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ARSA Gene

protein-coding   GIFtS: 70
GCID: GC22M051063

Arylsulfatase A

  See ARSA-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Arylsulfatase A1 2     cerebroside-sulfatase2
ASA2 3     Cerebroside-sulfatase3
Metachromatic Leucodystrophy1     EC 3.1.6.83
MLD2     EC 3.1.68

External Ids:    HGNC: 7131   Entrez Gene: 4102   Ensembl: ENSG000001002997   OMIM: 6075745   UniProtKB: P152893   

Export aliases for ARSA gene to outside databases

Previous GC identifers: GC22M047567 GC22M049195 GC22M049353 GC22M049410 GC22M033953


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ARSA Gene:
The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene
lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of
neurological symptoms and ultimately death. Alternatively spliced transcript variants have been described for
this gene. (provided by RefSeq, Dec 2010)

GeneCards Summary for ARSA Gene:
ARSA (arylsulfatase A) is a protein-coding gene. Diseases associated with ARSA include metachromatic leukodystrophy, juvenile form, and cerebral lipidosis. GO annotations related to this gene include sulfuric ester hydrolase activity and calcium ion binding. An important paralog of this gene is ARSF.

UniProtKB/Swiss-Prot: ARSA_HUMAN, P15289
Function: Hydrolyzes cerebroside sulfate

Gene Wiki entry for ARSA (Arylsulfatase A) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000022.10  NT_011526.8  NC_018933.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ARSA gene promoter:
         GR   ER-alpha   AML1a   RelA   Nkx2-5   E4BP4   NF-kappaB   COMP1   GR-alpha   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidARSA promoter sequence
   Search Chromatin IP Primers for ARSA

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ARSA


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q13.33   Ensembl cytogenetic band:  22q13.33   HGNC cytogenetic band: 22q13.33

ARSA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ARSA gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M051063:  view genomic region     (about GC identifiers)

Start:
51,061,182 bp from pter      End:
51,066,607 bp from pter
Size:
5,426 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ARSA_HUMAN, P15289 (See protein sequence)
Recommended Name: Arylsulfatase A precursor  
Size: 507 amino acids; 53588 Da
Cofactor: Binds 1 calcium ion per subunit
Subunit: Homodimer at neutral pH and homooctamer at acidic pH. Exists both as a single chain of 58 kDa (component
A) or as a chain of 50 kDa (component B) linked by disulfide bond(s) to a 7 kDa chain (component C). Interacts
with SUMF1
Miscellaneous: The metal cofactor was first identified as magnesium ion, based on the structure of the recombinant
protein, but when purified from human placenta, the protein contains 1 calcium ion per subunit
Sequence caution: Sequence=AAB03341.1; Type=Erroneous initiation; Sequence=BAH11167.1; Type=Erroneous initiation;
Selected PDB 3D structures from and Proteopedia for ARSA (see all 9):
1AUK (3D)        1E1Z (3D)        1E2S (3D)        1E33 (3D)        1E3C (3D)        1N2K (3D)    
Secondary accessions: B2RCA6 B7XD04 F8WCC8 Q6ICI5 Q96CJ0
Alternative splicing: 2 isoforms:  P15289-1   P15289-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ARSA: NX_P15289

Explore proteomics data for ARSA at MOPED

Post-translational modifications: 

  • The conversion to 3-oxoalanine (also known as C-formylglycine, FGly), of a serine or cysteine residue in
    prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity. This post-translational
    modification is severely defective in multiple sulfatase deficiency (MSD)1
  • Glycosylation2 at Asn158, Asn184, Asn350
  • 2 DME Specific Peptides for ARSA (P15289)
     GKYKAHF  PSRAALLTGRLP 


    See ARSA Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_000478.3  NP_001078894.2  NP_001078895.2  NP_001078896.2  NP_001078897.1  

    ENSEMBL proteins: 
     ENSP00000477013   ENSP00000348406   ENSP00000216124   ENSP00000378983   ENSP00000412542  
     ENSP00000378981   ENSP00000448440   ENSP00000448932  
    Reactome Protein details: P15289

    ARSA Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for ARSA
    OriGene MassSpec for ARSA
    OriGene Custom Protein Services for ARSA
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    Novus Biologicals ARSA Proteins
    Novus Biologicals ARSA Lysates
    Sino Biological Recombinant Protein for ARSA
    Sino Biological Cell Lysate for ARSA
    ProSpec Recombinant Protein for ARSA
    Cloud-Clone Corp. Proteins for ARSA

     
    Search eBioscience for Proteins for ARSA 

    ARSA Antibody Products:

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    Search eBioscience for ELISAs for ARSA 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ARS: Arylsulfatase family

    4 InterPro protein domains:
     IPR017849 Alkaline_Pase-like_a/b/a
     IPR000917 Sulfatase
     IPR024607 Sulfatase_CS
     IPR017850 Alkaline_phosphatase_core

    Graphical View of Domain Structure for InterPro Entry P15289

    ProtoNet protein and cluster: P15289

    1 Blocks protein domain: IPB000917 Sulfatase

    UniProtKB/Swiss-Prot: ARSA_HUMAN, P15289
    Similarity: Belongs to the sulfatase family


    Find genes that share domains with ARSA           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ARSA_HUMAN, P15289
    Function: Hydrolyzes cerebroside sulfate
    Catalytic activity: A cerebroside 3-sulfate + H(2)O = a cerebroside + sulfate
    Enzyme regulation: Inhibited by phosphate. The phosphate forms a covalent bond with the active site 3-oxoalanine

         Genatlas biochemistry entry for ARSA:
    arylsulfatase A,lysosomal,hydrolyzing esters bonds in cerebrosides,sulfation of most sulfolipids

         Enzyme Numbers (IUBMB): EC 3.1.6.81 EC 3.1.62

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004065arylsulfatase activity IEA--
    GO:0004098cerebroside-sulfatase activity TAS--
    GO:0005509calcium ion binding IDA12888274
    GO:0008484sulfuric ester hydrolase activity IDA15962010
         
    Find genes that share ontologies with ARSA           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for ARSA:
     Cell cycle / mitosis defect  Decreased viability of wild-ty 

         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Arsa):
     behavior/neurological  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism  immune system 
     nervous system 

    Find genes that share phenotypes with ARSA           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Arsatm1Gie for ARSA

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ARSA
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ARSA

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ARSA
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ARSA

    miRNA
    Products:
        
    miRTarBase miRNAs that target ARSA:
    hsa-mir-335-5p (MIRT018147)

    Block miRNA regulation of human, mouse, rat ARSA using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ARSA (see all 9):
    hsa-miR-374b* hsa-miR-485-5p hsa-miR-892b hsa-miR-3918 hsa-miR-619 hsa-miR-646 hsa-miR-221* hsa-miR-24
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ARSA

    Gene Editing
    Products:
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 5): ARSA (NM_001085428)
    Sino Biological Human cDNA Clone for ARSA
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ARSA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ARSA

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARSA


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ARSA_HUMAN, P15289: Lysosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    lysosome5
    vacuole5
    endoplasmic reticulum4
    cytosol2
    endosome2
    golgi apparatus2
    extracellular1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001669acrosomal vesicle IEA--
    GO:0005615extracellular space IEA--
    GO:0005737cytoplasm ----
    GO:0005764lysosome TAS2562955
    GO:0005768endosome IEA--

    Find genes that share ontologies with ARSA           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ARSA About    
    See pathways by source

    SuperPathContained pathways About
    1Sphingolipid metabolism
    Sphingolipid metabolism0.61
    Glycosphingolipid metabolism0.56
    Sphingolipid metabolism0.61
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    3PTM- gamma carboxylation, hypusine formation and arylsulfatase activation
    PTM- gamma carboxylation, hypusine formation and arylsulfatase activation0.31
    The activation of arylsulfatases0.00
    4Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Post-translational protein modification0.43
    Metabolism of proteins0.30
    5Lysosome
    Lysosome


    Find genes that share SuperPaths with ARSA           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    2 Reactome Pathways for ARSA
        Glycosphingolipid metabolism
    The activation of arylsulfatases


    2 Kegg Pathways  (Kegg details for ARSA):
        Sphingolipid metabolism
    Lysosome

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ARSA
    Interactions:

        Search GeneGlobe Interaction Network for ARSA

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ARSA (P152893 ENSP000002161244) via UniProtKB, MINT, STRING, and/or I2D (see all 26)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CLEC4GQ6UXB43, ENSP000003275994I2D: score=2 STRING: ENSP00000327599
    CTSLP077113, ENSP000003453444I2D: score=1 STRING: ENSP00000345344
    TRIP13Q156453I2D: score=1 
    ARSBENSP000002649144STRING: ENSP00000264914
    ARSDENSP000003705464STRING: ENSP00000370546
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006665sphingolipid metabolic process TAS--
    GO:0006687glycosphingolipid metabolic process TAS--
    GO:0006914autophagy IEA--
    GO:0007339binding of sperm to zona pellucida IEA--
    GO:0007417central nervous system development IEA--

    Find genes that share ontologies with ARSA           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ARSA

    Selected HMDB Compounds for ARSA (see all 11)    About this table
    CompoundSynonyms CAS #PubMed Ids
    3-O-Sulfogalactosylceramide (d18:1/24:0)Sulfatide (d18:1/24:0) (see all 16)151122-71-3--
    Galactosylceramide (d18:1/16:0)Galactocerebroside (see all 15)----
    Galactosylceramide (d18:1/18:0)Galactocerebroside (see all 15)----
    Galactosylceramide (d18:1/18:1(9Z))Galactocerebroside (see all 15)----
    Galactosylceramide (d18:1/20:0)Galactocerebroside (see all 15)----
    Galactosylceramide (d18:1/22:0)Galactocerebroside (see all 15)----
    Galactosylceramide (d18:1/24:1(15Z))Galactocerebroside (see all 15)----
    Galactosylceramide (d18:1/26:1(17Z))Galactocerebroside (see all 15)----
    MagnesiumMagnesium (see all 2)7439-95-4--
    SulfateSulfate (ion 2-) (see all 9)14808-79-8--

    4 DrugBank Compounds for ARSA    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Micafungin-- 235114-32-6enzymesubstrate15882123 17516879
    N,4-Dihydroxy-N-Oxo-3-(Sulfooxy)Benzenaminium-- --target--10592235
    SuraminBayer 205 (see all 6)145-63-1enzymeinhibitor7291729
    2-Amino-3-Hydroxy-3-Phosphonooxy-Propionic Acid-- --target----
    enzyme----

    Selected Novoseek inferred chemical compound relationships for ARSA gene (see all 42)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sulfatide 95.1 72 1359786 (6), 10894127 (3), 15322834 (2), 17204333 (2) (see all 37)
    formylglycine 90.1 3 10212197 (1), 9497327 (1), 9760228 (1)
    p-nitrocatechol sulfate 89.9 14 10464659 (2), 1687673 (2), 16613739 (2), 11870284 (1) (see all 7)
    cerebroside 77.4 9 10082381 (1), 11746679 (1), 1687673 (1), 15275696 (1) (see all 6)
    n-acetylgalactosamine 6-sulfate 72.1 2 1755850 (1), 1875023 (1)
    mannose 6-phosphate 70.3 12 12296771 (3), 1352293 (1), 8106525 (1), 15709909 (1) (see all 7)
    sulf 66.4 5 16311251 (2), 17093507 (2)
    galactosylceramide 65.7 3 9024105 (1), 18097285 (1)
    mucopolysaccharide 40.9 3 9336808 (2), 11315200 (1)
    mannose 35.5 3 1352293 (1), 7890120 (1), 9202426 (1)



    Find genes that share compounds with ARSA           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ARSA gene (5 alternative transcripts): 
    NM_000487.5  NM_001085425.2  NM_001085426.2  NM_001085427.2  NM_001085428.2  

    Unigene Cluster for ARSA:

    Arylsulfatase A
    Hs.88251  [show with all ESTs]
    Unigene Representative Sequence: NM_000487
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000610191 ENST00000608497 ENST00000356098 ENST00000216124(uc003bna.4 uc021wsd.1 uc021wse.1 uc021wsf.1 uc003bmz.4)
    ENST00000395621 ENST00000453344 ENST00000395619 ENST00000551731(uc010hbf.3)
    ENST00000547307 ENST00000547805
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ARSA (see all 9):
    hsa-miR-374b* hsa-miR-485-5p hsa-miR-892b hsa-miR-3918 hsa-miR-619 hsa-miR-646 hsa-miR-221* hsa-miR-24
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    GenScript: all cDNA clones in your preferred vector (see all 5): ARSA (NM_001085428)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ARSA
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for ARSA
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ARSA
      QuantiTect SYBR Green Assays in human, mouse, rat ARSA
      QuantiFast Probe-based Assays in human, mouse, rat ARSA

    Additional mRNA sequence: 

    AB448736.1 AK092752.1 AK098659.1 AK315011.1 BC014210.2 BX648618.1 CR456383.1 X52151.1 

    15 DOTS entries:

    DT.100877746  DT.453952  DT.100731419  DT.65287834  DT.95337986  DT.100028446  DT.100644967  DT.100877740 
    DT.100877741  DT.100877744  DT.120644762  DT.40230542  DT.91745500  DT.95337982  DT.97844860 

    Selected AceView cDNA sequences (see all 228):

    CR607373 C01652 BP367614 BG035223 CB124424 CR598173 CB126238 AI459538 
    BX365605 BQ184813 BQ917626 CB151533 CR590422 BM763358 CB306644 BM547797 
    BU632246 CR600807 R96096 CA423492 T28370 BQ109579 CB125745 BE465784 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ARSA (see all 8)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b · 3c · 3d ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9
    SP1:                                                                                                  -                                       
    SP2:                                                                                      -           -                                       
    SP3:                    -     -           -     -     -     -     -     -     -                       -                                       
    SP4:                                                                    -     -     -                 -                                       
    SP5:                          -                                                                                                               


    ECgene alternative splicing isoforms for ARSA

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    ARSA expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACCCTGGCG
    ARSA Expression
    About this image


    ARSA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    ARSA Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ARSA Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.88251
        Custom PCR Arrays for ARSA
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for ARSA
    OriGene qSTAR qPCR primer pairs in human, mouse for ARSA
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ARSA
    QuantiTect SYBR Green Assays in human, mouse, rat ARSA
    QuantiFast Probe-based Assays in human, mouse, rat ARSA
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARSA

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for ARSA gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Arsa1 , 5 arylsulfatase A1, 5 83.68(n)1
    87.6(a)1
      15 (44.94 cM)5
    118831  NM_009713.41  NP_033843.21 
     894724765 
    chicken
    (Gallus gallus)
    Aves ARSA1 arylsulfatase A 67.43(n)
    66.32(a)
      426863  XM_424471.4  XP_424471.3 
    lizard
    (Anolis carolinensis)
    Reptilia ARSA6
    arylsulfatase A
    67(a)
    1 ↔ 1
    GL343765.1(209941-216295)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia arsa1 arylsulfatase A 58.75(n)
    57.71(a)
      100486429  XM_002938291.2  XP_002938337.2 
    zebrafish
    (Danio rerio)
    Actinopterygii arsa1 arylsulfatase A 59.82(n)
    58.28(a)
      541416  NM_001013543.2  NP_001013561.2 
    worm
    (Caenorhabditis elegans)
    Secernentea D1014.13 arylsulfatase 36(a)   V(8160224-8161279)   --


    ENSEMBL Gene Tree for ARSA (if available)
    TreeFam Gene Tree for ARSA (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for ARSA gene
    ARSF2  ARSI2  ARSJ2  ARSG2  STS2  ARSH2  ARSB2  GALNS2  
    ARSE2  ARSD2  
    3 SIMAP similar genes for ARSA using alignment to 2 protein entries:     ARSA_HUMAN (see all proteins):
    DKFZp686G12235    GALNS    ARSG

    Find genes that share paralogs with ARSA           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for ARSA (see all 464)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289408931,2,,4
    CLeukodystrophy metachromatic (MLD)4 pathogenic135006735(-) GCCCCC/TGCTGC 10 P L mis1 ese31Minor allele frequency- T:0.00NA 3842
    rs743154851,2,,4
    CLeukodystrophy metachromatic (MLD)4 pathogenic135006739(-) ATGAGA/CCCCCG 10 T P mis10--------
    rs743154811,2,,4
    CLeukodystrophy metachromatic (MLD)4 pathogenic135006786(-) TACCAC/TTGCAG 10 T I mis10--------
    rs289408951,2,,4
    CLeukodystrophy metachromatic (MLD)4 pathogenic135006789(-) TGATAC/TCACTG 10 T I mis1 ese30--------
    rs1994763911,2,,4
    CLeukodystrophy metachromatic (MLD)4 untested135006957(-) TGTGCG/AGACTG 10 /Q /R mis11Minor allele frequency- A:0.00EU 1315
    rs743154801,2,,4
    CLeukodystrophy metachromatic (MLD)4 pathogenic135006958(-) CTGTGC/TGGACT 10 R W mis10--------
    rs1994763701,2,,4
    CLeukodystrophy metachromatic (MLD)4 untested135006976(-) AGGTCC/TGTGGG 10 R C mis10--------
    rs743154791,2,,4
    CLeukodystrophy metachromatic (MLD)4 pathogenic135006982(-) CAGACA/GAGGTC 10 K E mis10--------
    rs61514251,2,,4
    C,F,HLeukodystrophy metachromatic (MLD)4 untested135006983(-) CCAGAC/G/TGAGGT 10 D E mis1 ese322NS NA EU 8383
    rs743154781,2,,4
    CLeukodystrophy metachromatic (MLD)4 pathogenic135006996(-) CTACCA/C/TGTCCT 10 P L mis11NA 4486
    rs743154771,2,,4
    CLeukodystrophy metachromatic (MLD)4 pathogenic135007017(-) CCCTCA/GGCAGT 10 Q R mis10--------
    rs743154761,2,,4
    CLeukodystrophy metachromatic (MLD)4 pathogenic135007018(-) GCCCTC/TGGCAG 10 R W mis10--------
    rs743154751,2,,4
    CLeukodystrophy metachromatic (MLD)4 pathogenic135007376(-) CCTGGA/TCCTGC 10 D V mis10--------
    rs743154591,2,,4
    CLeukodystrophy metachromatic (MLD)4 pathogenic135007545(-) AGGGCA/GGTGTC 10 S G mis10--------
    rs1994763561,2,,4
    CLeukodystrophy metachromatic (MLD)4 untested135007547(-) CGAGGA/G/TCGGTG 15 D G V mis10--------
    rs743154841,2,,4
    CLeukodystrophy metachromatic (MLD)4 pathogenic135007571(-) GCGGTG/TTGGAA 10 C F mis10--------
    rs743154741,2,,4
    CLeukodystrophy metachromatic (MLD)4 pathogenic135007586(-) CTGCTA/CCGGTC 10 Y S mis10--------
    rs1994763551,2,,4
    CLeukodystrophy metachromatic (MLD)4 untested135007607(-) CATGCA/GTATGT 10 H R mis10--------
    rs743154731,2,,4
    CLeukodystrophy metachromatic (MLD)4 pathogenic135007608(-) CCATGC/TGTATG 10 R C mis10--------
    rs289408941,2,,4
    CLeukodystrophy metachromatic (MLD)4 pathogenic135007614(-) CTGAGA/CCCATG 10 T P mis1 ese30--------
    rs743154721,2,,4
    CLeukodystrophy metachromatic (MLD)4 pathogenic135007961(-) AGAGAC/TGCTGG 10 T M mis10--------
    rs743154831,2,,4
    CLeukodystrophy metachromatic (MLD)4 pathogenic135008025(-) TGATGA/GAGCTG 10 K E mis10--------
    rs743154711,2,,4
    CLeukodystrophy metachromatic (MLD)4 pathogenic135008049(-) GCCGCA/GGGCCA 10 R G mis10--------
    rs743154701,2,,4
    CLeukodystrophy metachromatic (MLD)4 pathogenic135008052(-) CAGGCC/TGCGGG 10 R C mis10--------
    rs743154691,2,,4
    CLeukodystrophy metachromatic (MLD)4 pathogenic135008091(-) ACTACA/CCTCAG 10 T P mis10--------
    rs743154681,2,,4
    CLeukodystrophy metachromatic (MLD)4 pathogenic135008184(-) CTATGC/TCTCTC 10 A V mis11Minor allele frequency- T:0.00NA 4398
    rs1484034061,2,,4
    C,FLeukodystrophy metachromatic (MLD)4 --35008205(+) AGGGGC/TGATCC 10 H R mis11Minor allele frequency- T:0.00NA 4360
    rs743154671,2,,4
    CLeukodystrophy metachromatic (MLD)4 pathogenic135008220(-) CGACGC/TCCAGC 10 A V mis10--------
    rs1994763411,2,,4
    CLeukodystrophy metachromatic (MLD)4 untested135008221(-) CCGACA/C/GCCCAG 10 P A mis10--------
    rs743154571,2,,4
    CLeukodystrophy metachromatic (MLD)4 pathogenic135008319(-) CCCCAT/GCCCAC 10 /S /I mis11Minor allele frequency- G:0.00EU 821
    rs743154661,2,,4
    CLeukodystrophy metachromatic (MLD)4 pathogenic135008350(-) CTTGCA/GACGGT 10 N D mis10--------
    rs743154651,2,,4
    CLeukodystrophy metachromatic (MLD)4 pathogenic135008355(-) CACTCC/GTTGCG 10 P R mis10--------
    rs743154641,2,,4
    CLeukodystrophy metachromatic (MLD)4 pathogenic135008391(-) GGGCCC/G/TCTGCC 15 P R L mis10--------
    rs743154631,2,,4
    CLeukodystrophy metachromatic (MLD)4 pathogenic135008394(-) TCAGGA/GCCCCT 10 D G mis10--------
    rs1994763751,2,,4
    CLeukodystrophy metachromatic (MLD)4 untested135008525(-) CATCCC/TGTACT 10 P L mis10--------
    rs743154621,2,,4
    CLeukodystrophy metachromatic (MLD)4 pathogenic135008561(-) CCTGCC/TCCCCC 10 P L mis10--------
    rs605040111,2,,4
    CLeukodystrophy metachromatic (MLD)4 untested135008562(+) GGGGGA/C/GCAGGA 10 P S mis10--------
    rs743154611,2,,4
    CLeukodystrophy metachromatic (MLD)4 pathogenic135008604(-) TGGCCA/GGCAAG 10 S G mis10--------
    rs743154551,2,,4
    CLeukodystrophy metachromatic (MLD)4 pathogenic135008672(-) GGGGGA/G/TCCTGC 15 D G V mis10--------
    rs743154561,2,,4
    CLeukodystrophy metachromatic (MLD)4 pathogenic135008681(-) CAGCTC/TCCGGG 10 S F mis10--------
    rs743154601,2,,4
    CLeukodystrophy metachromatic (MLD)4 pathogenic135008711(-) GATGGA/GCATGT 10 D G mis10--------
    rs743154581,2,,4
    CLeukodystrophy metachromatic (MLD)4 pathogenic135008717(-) GGTTCA/GGATGG 9 Q R mis1 ut510--------
    rs61514111,2,,4
    CLeukodystrophy metachromatic (MLD)4 --35008723(-) GCTCCC/TGGTTC 9 P L mis1 ut51 ese32Minor allele frequency- T:0.01NS NA 182
    VAR_0542034
    Leukodystrophy metachromatic (MLD)4--see VAR_0542032 T I mis40--------
    rs1994763711,2,4
    Leukodystrophy metachromatic (MLD)4--see VAR_0072492 mis40--------
    rs61514291,2
    C,F,Hpathogenic135006392(-) ACGTAA/GTAACA 5 -- ut3132Minor allele frequency- G:0.05NS EA NA 3544
    rs743154821,2
    Cpathogenic135006556(-) CCCTGC/TAGATC 10 Q * stg10--------
    rs7436161,2,,4
    C,F,O,A,Hpathogenic135006954(+) TTCCAG/CTCCGC 10 /T /S mis1 ese330Minor allele frequency- C:0.46MN NS EA NA CSA WA EU 8237
    rs20714211,2,,4
    C,F,O,A,Hpathogenic135007331(-) GCCCAA/GTGTCA 10 N S mis1 ese326Minor allele frequency- G:0.22NS EA NA WA CSA 5526
    rs803388151,2
    Cpathogenic135008508(-) ACCAGA/GTAGGA 5 -- spd10--------
    rs1452139181,2
    C--35003777(+) GGGGAA/GGAAAG 5 -- ds50010--------
    rs1509589931,2
    C--35003912(+) ACCACC/TACCTT 5 -- ds50010--------
    rs81377811,2
    C,F,H--35003914(+) CACCAC/ACTTAT 5 -- ds500111Minor allele frequency- A:0.05NS EA NA WA 1428
    rs1407570701,2
    --35003979(+) CCAGAG/TGAAAA 5 -- ds50010--------
    rs1501122411,2
    --35003980(+) CAGATC/GAAAAG 5 -- ds50010--------
    rs1841717891,2
    --35004043(+) TCACGC/TAGGCA 5 -- ds50010--------
    rs117045571,2
    C,F,H--35004146(+) gcaggG/Ttttat 5 -- ut317Minor allele frequency- T:0.01NS EA NA 714
    rs1179515521,2
    F--35004204(+) TAGCAG/ACTGCC 5 -- ut311Minor allele frequency- A:0.03EA 120
    rs1874444111,2
    --35004261(+) CAGGGC/TTGCCC 5 -- ut310--------
    rs1386048641,2
    --35004482(+) CTGAAC/TGCCCG 5 -- ut310--------
    rs1427956791,2
    --35004571(+) CTGACA/GTCAGT 5 -- ut310--------
    rs1915488261,2
    --35004717(+) TGGAGC/GCCTCA 5 -- ut310--------
    rs72901991,2
    H--35004730(+) GGCAAA/TCtggg 5 -- ut314Minor allele frequency- T:0.00NS EA 414
    rs567882621,2
    C,F--35004751(+) GGGTTT/CGGATT 5 -- ut311Minor allele frequency- C:0.13WA 118
    rs731722771,2
    C--35004774(+) GCCTGC/TGAAAT 5 -- ut313Minor allele frequency- T:0.07CSA WA NA 240
    rs1839376481,2
    --35004806(+) AAGCCC/TAGCCT 5 -- ut310--------
    rs1886670661,2
    --35004901(+) CCTCGA/GCCTAG 5 -- ut310--------
    rs1808940811,2
    --35004918(+) GAAGTC/GATTCT 5 -- ut310--------
    rs798239401,2
    C--35004950(+) GCTAGG/AACAAA 5 -- ut314Minor allele frequency- A:0.13NA WA EA 360
    rs60099391,2
    C,F,H--35004998(+) gccagG/Ttgtgg 5 -- ut316Minor allele frequency- T:0.29NA CSA WA EA 364
    rs1845155881,2
    C--35005045(+) GAGGCA/GGGTGG 5 -- ut310--------
    rs60100321,2
    C--35005115(+) ttaaaA/Taaaaa 5 -- ut310--------
    rs1904786061,2
    --35005148(+) ACACAC/TCTGTA 5 -- ut310--------
    rs768410851,2
    C--35005151(+) CACCTG/ATAGTT 5 -- ut311Minor allele frequency- A:0.50NA 2
    rs1317171,2
    C,F--35005169(-) AGCCTG/CCCTAG 5 -- ut313Minor allele frequency- C:0.50NA CSA 6
    rs1821429191,2
    --35005198(+) GAACCC/TGGGAG 5 -- ut310--------
    rs1148335061,2
    C,F--35005412(+) CAGCCT/AAACAG 5 -- ut311Minor allele frequency- A:0.13WA 118
    rs1859556581,2
    --35005415(+) CCTAAC/TAGATT 5 -- ut310--------
    rs1905698571,2
    --35005555(+) GATTAC/TAGGGA 5 -- ut310--------
    rs57708051,2
    C,F,A--35005569(+) accacC/Tacacc 5 -- ut314Minor allele frequency- T:0.29NA WA CSA 7
    rs72880501,2
    C,F,A--35005633(+) ggtctT/Cgaact 5 -- ut313Minor allele frequency- C:0.40NA WA CSA 5
    rs1816885691,2
    C--35005650(+) CTCAGA/GTGATC 5 -- ut310--------
    rs1856875581,2
    C--35005688(+) GGATTA/GCAGGC 5 -- ut310--------
    rs1155938861,2
    F--35005711(+) GCCCAG/CCCAAC 5 -- ut311Minor allele frequency- C:0.08WA 118
    rs81420331,2
    C,F,A,H--35005747(+) ctgctG/Aggtgg 5 -- ut3122Minor allele frequency- A:0.19NS EA NA CSA WA 2762
    rs1487145271,2
    --35005758(+) AGAATC/TGTTAG 5 -- ut310--------
    rs1913358671,2
    C--35005759(+) GAATCA/GTTAGT 5 -- ut310--------
    rs72883381,2
    C,F,A--35005806(+) GGGCAC/GAGGTG 5 -- ut3113Minor allele frequency- G:0.35NA WA CSA EA 511
    rs57709531,2
    C,F,A,H--35005853(+) GGAGCC/TGTCTC 5 -- ut3117Minor allele frequency- T:0.36NS EA NA CSA WA 2328
    rs1414943391,2
    C--35005985(+) GTGCCC/TGTGTC 5 -- ut310--------
    rs1826354381,2
    --35006146(+) GTCCTC/TGAGGC 5 -- ut310--------
    rs57418621,2
    C,F,A,H--35006148(+) CCTTGA/TGGCTG 5 -- ut3118Minor allele frequency- T:0.12NS EA NA WA 1566
    rs1508455941,2
    --35006237(+) AATCCC/TAGCCC 5 -- ut310--------
    rs1397243341,2
    --35006244(+) GCCCAA/GCCTCT 5 -- ut310--------
    rs1443667061,2
    C--35006323(+) GGGACC/TGGCAC 5 -- ut310--------
    rs1461607371,2
    --35006385(+) CCACTA/GGTGTT 5 -- ut310--------
    rs2018462181,2
    --35006486(+) GGGGCC/TCTCAG 5 -- ut310--------
    rs61514281,2,,4
    C,F,H--35006525(-) CCCCCA/G/TCCCAG 15 H R L mis17NS EA WA NA 830
    rs2010853861,2
    C--35006531(+) GGGGGA/GTGCAG 10 T I mis10--------
    rs1483523711,2
    C,F--35006571(+) GTCCTC/TGCCCC 10 K E mis11Minor allele frequency- T:0.00NA 3616
    rs1173419841,2
    C--35006673(+) GGCCCC/TGGCCA 10 R G mis11Minor allele frequency- T:0.01EA 120
    rs61514271,2,,4
    C,F,H--35006693(-) CTACAA/GCCTGC 10 N S mis1 ese38Minor allele frequency- G:0.00NS EA NA 4938
    rs2016936081,2
    C--35006721(+) GGACAC/GGTCAT 10 L V mis10--------
    rs1390731951,2
    C,F--35006760(+) AGAGCT/GGGAGG 10 /S /R mis11Minor allele frequency- G:0.00NA 3446
    rs1401587051,2
    C,F--35006767(+) GAGGCG/ATGGCA 10 /H syn12Minor allele frequency- A:0.00NA EU 4361
    rs749257101,2
    C--35006809(+) GAGCCC/TGGGGA 5 -- spa10--------
    rs3741509801,2
    C--35006822(+) GGGCCA/GATTCT 5 -- int10--------
    rs1875992741,2
    C--35006874(+) GCTCCA/GGGGAG 5 -- int10--------
    rs7626741,2
    C,F,A,H--35006902(-) TGGATG/CCCTCC 5 -- int1 trp320Minor allele frequency- C:0.19NS EA NA CSA WA EU 2201
    rs61514261,2
    C--35006909(-) CTCCCC/AGTGGA 5 -- int12Minor allele frequency- A:0.03NS WA 284
    rs1115081211,2
    C--35006920(+) GGGTTA/G/TCCCTG 5 -- spd11CSA 1
    rs1490882031,2
    F--35006977(+) CCACGG/AACCTC 10 /V syn11Minor allele frequency- A:0.00NA 4514
    rs2002568001,2
    C--35007053(+) GGGGCA/GGGGCA 5 -- int10--------
    rs7626731,2
    C,F,A,H--35007056(-) GCCTGT/CCCCGC 5 -- int115Minor allele frequency- C:0.21NS EA NA WA CSA 795
    rs8736971,2
    C,F,O,H--35007084(+) CCTGGG/AGCTGC 5 -- int17Minor allele frequency- A:0.04NS EA WA NA 710
    rs61514241,2
    C,F,A,H--35007101(-) GCCTCC/ACACCA 5 -- int12Minor allele frequency- A:0.01NS NA 292
    rs61514231,2
    C,F,H--35007154(-) AGTGGC/TGCCAC 5 -- int111Minor allele frequency- T:0.08NS NA EA 1308
    rs2009016261,2
    --35007280(+) CTACCG/TTGCCT 10 K T mis10--------
    rs61514221,2,,4
    C,F,H--35007314(-) ATGGCT/GTTGAC 10 /V /F mis16Minor allele frequency- G:0.01NS EA NA 584
    rs1470272291,2
    C,F--35007384(+) AGGGAG/ACTGGC 10 /S syn11Minor allele frequency- A:0.00NA 3276
    rs1439949921,2
    C--35007404(+) GGTCAC/TGCCTG 10 M V mis10--------
    rs2018708261,2
    --35007439(+) CAGTTC/TGCCAT 5 -- int10--------
    rs61514211,2
    C,F,H--35007459(-) GCCCCA/GCCACC 5 -- int111Minor allele frequency- G:0.06NS EA WA 1252
    rs1449152191,2
    C--35007488(+) GCCTGC/TGGACT 5 -- int10--------
    rs2005673151,2
    --35007504(+) GGAGCA/GATATG 10 I syn10--------
    rs2000825461,2
    --35007583(+) AGAGAA/CCGGAG 10 G V mis10--------
    rs96168011,2
    C,F--35007703(+) TCTAAG/CTCACA 5 -- int11Minor allele frequency- C:0.02NA 120
    rs7626721,2
    C,F,A,H--35007733(-) GGCTCG/ATGCTG 5 -- int125Minor allele frequency- A:0.16NS EA NA WA CSA 2526
    rs1921642421,2
    --35007758(+) CCTACC/GAAGAC 5 -- int10--------
    rs11067881,2
    C,F,H--35007813(-) GGCCAC/TGTTGC 5 -- int114Minor allele frequency- T:0.16NA NS CSA WA EA 1188
    rs61514191,2
    C,F,A,H--35007830(-) GGGTGC/TCAGGA 5 -- int17Minor allele frequency- T:0.13NS NA WA EA 532
    rs61514181,2
    C,F--35007834(-) GAGGGG/AGTGCC 5 -- int12Minor allele frequency- A:0.04NS WA 286
    rs61514161,2
    C,F--35008144(-) CTGCCC/TGTGAC 5 -- int13Minor allele frequency- T:0.04NS NA EU 887
    rs1463719681,2
    C,F--35008176(+) ACTTAC/TGTGAG 5 -- spd12Minor allele frequency- T:0.00NA EU 5185
    rs1384683951,2
    C--35008181(+) CGTGAG/CAGGCA 10 /S /C mis11Minor allele frequency- C:0.00NA 4410
    rs2012516341,2
    C--35008202(+) AGAAGA/GGGCGA 10 P L mis10--------
    rs2001829831,2
    --35008225(+) GCGTCA/GGCCAT 10 A syn10--------
    rs1139902301,2
    C,F--35008237(+) AGGTCA/GTGGGC 10 H syn13Minor allele frequency- G:0.01NA EU 4789
    rs620018671,2
    C,F--35008242(+) ATGGGC/TGAAAG 10 T A mis12Minor allele frequency- T:0.00NS NA 4230
    rs2017948081,2
    C--35008256(+) TGTAGC/TGGGCC 10 H R mis11Minor allele frequency- T:0.00EU 601
    rs61514151,2,,4
    C,F,H--35008276(-) CCCTGG/TCTGCC 10 W C mis1 ese314Minor allele frequency- T:0.05NS EA NA EU 6157
    rs1132091081,2
    C,F--35008297(+) TCCACG/AGACAG 10 /S syn12Minor allele frequency- A:0.00CSA NA 3738
    rs1452990721,2
    C,F--35008366(+) GCCGGC/TGGGAA 10 P syn11Minor allele frequency- T:0.00NA 2916
    rs61514141,2
    C,F--35008402(-) TGCCCG/CCCTCA 5 -- int11Minor allele frequency- C:0.01NS 174
    rs61514131,2
    C,F--35008439(-) CCGCAG/TCCCCA 5 -- int12Minor allele frequency- T:0.02NS NA 294
    rs1997676251,2
    --35008496(+) GGCCCA/GGGTGG 5 -- int10--------
    rs61514121,2
    C,F,H--35008515(-) TCCCAC/TGACCA 10 H syn1 ese316Minor allele frequency- T:0.06NS EA NA WA EU 2559
    rs61514101,2
    C,F--35008731(-) ACCGGC/TCGGCT 9 G syn1 ut51 ese32Minor allele frequency- T:0.02NS WA 296
    rs1920133941,2
    C--35008754(+) CCTGCA/GGGACA 5 -- int10--------
    rs61514091,2
    C--35008871(-) TCCCCG/ACCCCG 5 -- int11Minor allele frequency- A:0.01NS 180
    rs1451571961,2
    C,F--35009083(+) AGCAGC/TCAGGG 9 T A mis1 int11Minor allele frequency- T:0.00NA 2330
    rs61514081,2
    C,F,H--35009258(-) AGCTTC/GAGGAG 5 -- ut51 int1 ese35Minor allele frequency- G:0.21NS EA 592
    rs1845115471,2
    --35009298(+) AGACCA/GCGGGC 5 -- ut51 int10--------
    rs1882272271,2
    --35009428(+) GAGTCA/GGGCCG 5 -- ut510--------
    rs61514061,2
    C,F--35009467(-) GTACCG/CGCTCC 5 -- ut51 ese32Minor allele frequency- C:0.11NS WA 264
    rs61514051,2
    C,F--35009660(-) CGCACA/GCGGCG 5 -- us2k11Minor allele frequency- G:0.06NS 178
    rs1317151,2
    C,F,H--35009882(-) ACGCTC/TCGCGC 5 -- us2k120Minor allele frequency- T:0.27NS MN EA NA WA 2704
    rs7626681,2
    C,F,A,H--35009951(-) AGGAAG/AAGCCC 5 -- us2k1 trp322Minor allele frequency- A:0.31MN NS EA NA WA CSA 2532
    rs748209191,2
    F--35010012(+) TGTGCG/CTGTAA 5 -- us2k11Minor allele frequency- C:0.07WA 118
    rs65201591,2
    C,A--35010158(+) gagggA/Gtatgt 5 -- us2k10--------
    rs65201601,2
    C,A--35010160(+) gggatA/Gtgtgt 5 -- us2k10--------
    rs65201611,2
    C,A--35010222(+) TGAGGG/TGTGTG 5 -- us2k10--------
    rs2007209261,2
    --35010274(+) TTGAG-/GTGTGTG 5 -- us2k10--------
    rs61514031,2
    C,F--35010308(-) ACCCAACA/-CCACA 5 -- us2k11Minor allele frequency- -:0.14NS 162
    rs1423101821,2
    --35010505(+) AGGACA/CACGTG 5 -- us2k10--------
    rs1501658531,2
    --35010521(+) GTCCTC/TGCTCC 5 -- us2k10--------
    rs23410031,2
    H--35010593(+) ccaaaT/Aatatt 5 -- us2k14Minor allele frequency- A:0.00NS EA 416
    rs1927290951,2
    --35010605(+) CCTTGA/GCACGG 5 -- us2k10--------
    rs40400401,2
    --35010608(+) tgacaC/Tggttc 5 -- us2k10--------
    rs342334841,2
    C--35010905(+) CCACTG/-GTCAC 5 -- us2k11Minor allele frequency- -:0.50CSA 2
    rs130542621,2
    C--35010977(+) atggtG/Atataa 5 -- us2k1 tfbs33Minor allele frequency- A:0.17WA NA 6
    rs743612951,2
    C--35010977(+) ATGGTA/GTATAA 5 -- us2k10--------
    rs1382903631,2
    --35011009(+) GTTGGA/GGTCAT 5 -- us2k10--------
    rs1429623041,2
    C--35011012(+) GGGGTC/TATCAC 5 -- us2k10--------
    rs1461102701,2
    --35011128(+) TCTAGC/GCTCCT 5 -- us2k10--------
    rs1148519131,2
    C,F--35011207(+) GAGCCG/AACAAG 5 -- us2k11Minor allele frequency- A:0.02WA 118
    rs1401259911,2
    --35011226(+) AAGAAA/GGGTAA 5 -- us2k10--------
    rs30437151,2
    C--35011255(+) CCGGC-/CGGC  
     C
    /CTCTC
    TGGAA
    5 -- us2k10--------
    rs1420016411,2
    C--35011258(+) CCCGG-/CCTCT 
            
    CTGGA
    5 -- us2k10--------
    rs1424832491,2
    --35011400(+) TAGTCA/GTCTTT 5 -- us2k10--------
    rs1317141,2
    C,F,A,H--35011478(-) cccaaC/Gacggg 5 -- us2k115Minor allele frequency- G:0.16EA NS NA WA CSA 671
    rs1892634821,2
    --35011493(+) TCCTGC/TAGGCT 5 -- us2k10--------
    rs1317131,2
    C,F,A,H--35011521(-) gcatcC/Tgatca 5 -- us2k123Minor allele frequency- T:0.28NS EA NA WA 2706
    rs1509000741,2
    C--35011526(+) GGATGC/TGTCTA 5 -- us2k10--------
    rs60100331,2
    C--51062335(+) AAAAAA/CAAAAA 5 -- ut310--------
    rs1473293261,2
    C--51066621(+) GGGCC-/GGGGGC 5 -- us2k10--------
    VAR_0072924
    ----see VAR_0072922 A V mis40--------
    rs3691107181,2
    ----35005029(+) AGCACA/TTGGGA 5 -- ut310--------
    rs3681630681,2
    ----35006873(+) GGCTCA/CGGGGA 5 -- int10--------
    rs3753465611,2
    ----35011259(+) CCGGC-/CTCTC 
            
    TGGAA
    5 -- us2k10--------
    rs3676027341,2
    ----35007965(+) CGTCTC/TTTCAA 10 K E mis10--------
    rs3695434711,2
    ----35007014(+) GAGACC/TCCGAG 10 Q R mis10--------
    rs3761124581,2
    ----35010427(+) CGTGG-/GTGTGGTG 5 -- us2k10--------
    rs3715704151,2
    ----35008414(+) CTGCCA/GTGAGG 5 -- int10--------
    rs3767992051,2
    ----35009731(+) CCTGGC/GTGAGG 5 -- us2k10--------
    rs1456043511,2
    ----51062358(+) AAAAAA/CAAAAA 5 -- ut310--------
    rs3758980401,2
    ----35008557(+) TGATGA/GGGGGG 10 P syn10--------
    rs803388231,2
    --pathogenic135006601(-) TTAGA-/CGCA  
     GCTGTGA
    CCTTC
    10 L AAVT fra10--------
    rs343671801,2
    ----35005010(+) GGTTCA/CCACCT 5 -- ut310--------
    rs50307631,2
    ----35007824(-) CAGGAC/GATGCT 5 -- int10--------
    rs1994763771,2,,4
    --Leukodystrophy metachromatic (MLD)4 untested135008509(-) GACCAC/GGTAGG 10 H Q mis10--------
    rs3754939571,2
    ----35008988(+) GTAGAG/TCTGGG 9 R S mis1 int10--------
    rs1994763501,2,,4
    --Leukodystrophy metachromatic (MLD)4 untested135009023(-) ACCTCA/GGCTAT 9 S G mis1 int10--------
    rs1839695151,2
    ----35010183(+) AGGTGG/TGTGTG 5 -- us2k10--------
    rs3777172421,2
    ----35006574(+) CTCGCC/TCCGGG 10 S G mis10--------
    rs3749600481,2
    ----35004964(+) TACCAC/TGCCTG 5 -- ut310--------
    rs1994763641,2,,4
    --Leukodystrophy metachromatic (MLD)4 untested135008613(-) TCACAA/GGAATG 10 R G mis10--------
    rs1994763811,2,,4
    --Leukodystrophy metachromatic (MLD)4 untested135008340(-) TGGCTA/GTGACC 10 Y C mis10--------
    rs3690712151,2
    ----35008155(+) CCAGGA/GGGTTG 5 -- int10--------
    rs3688081141,2
    ----35007052(+) CGGGGC/TGGGGC 5 -- int10--------
    rs1994763921,2,,4
    --Leukodystrophy metachromatic (MLD)4 untested135006729(-) GCTGCC/TCTATG 10 P L mis10--------
    rs3715155531,2
    ----35007968(+) CTCTTC/TAAGCA 10 K E mis10--------
    rs3739611761,2
    ----35006845(+) AGGGCA/GAGAGG 5 -- int10--------
    rs1994763441,2,,4
    --Leukodystrophy metachromatic (MLD)4 untested135007000(-) TCTTCA/TACCCG 10 N Y mis10--------
    rs3769070091,2
    ----35007047(+) GGTCAC/TGGGGC 5 -- int10--------
    rs3731667311,2
    ----35005310(+) GGTCTC/GCTATG 5 -- ut310--------
    rs2018454331,2
    ----35010904(+) GCCACA/TGGTCA 5 -- us2k10--------
    rs2013155401,2
    ----35009109(+) GCGGTA/GCCCCC 9 A V mis1 int10--------
    rs1994763671,2,,4
    --Leukodystrophy metachromatic (MLD)4 untested135008033(-) GGACTA/CCCTGA 10 Y S mis10--------
    rs3768349351,2
    ----35008288(+) GGCTGC/TGCCTC 10 A syn10--------
    rs743152671,2
    --untested135006724(-) TCTATG/TACCTG 10 D Y mis10--------
    rs10515391,2
    ----35009423(-) CGACTC/GCGCTG 5 -- ut51 ese31Minor allele frequency- G:0.00MN 184
    rs1994763721,2,,4
    --Leukodystrophy metachromatic (MLD)4 untested135008285(-) GCGCAC/GCCCCC 10 H Q mis10--------
    rs743152711,2
    --untested135008347(-) GCGACA/GGTGGC 10 S G mis10--------
    rs3728696501,2
    ----35006995(+) TAGGAC/TGGGTA 10 P syn10--------
    rs1433720471,2
    ----51062357(+) AAAAAA/TAAAAA 5 -- ut310--------
    rs1994763631,2,,4
    --Leukodystrophy metachromatic (MLD)4 untested135008684(-) GCCCAA/GCTCCC 10 N S mis10--------
    rs3677255941,2
    ----35003873(+) CTTATA/GCAGCA 5 -- ds50010--------
    rs3771872481,2
    ----35006473(+) CCAGGC/TCAGCC 5 -- ut310--------
    rs61514071,2
    ----35009281(-) ACTGTC/TGGGCC 5 -- ut51 int1 ese31Minor allele frequency- T:0.01NS 174
    rs3758355991,2
    ----35007910(+) CGGAGC/TACCCA 5 -- int10--------
    rs3687698711,2
    ----35008008(+) GTCCCC/GACAGC 10 V syn10--------
    rs3752855541,2
    ----35007265(+) CAGGGA/GTCACC 5 -- int10--------
    rs3725327631,2
    ----35008279(+) AGCCAA/GGGGGG 10 P syn10--------
    rs1994763581,2,,4
    --Leukodystrophy metachromatic (MLD)4 untested135008556(-) CCCCCC/GATCAG 10 H D mis10--------
    rs1461737681,2
    ----35008203(+) GAAGGG/TGCGAT 10 T P mis11Minor allele frequency- T:0.00NA 4360
    rs1994763541,2,,4
    --Leukodystrophy metachromatic (MLD)4 untested135008103(-) CCCAGC/TACACC 10 H Y mis10--------
    rs2014701651,2
    ----35007985(+) GGTCCC/ACTATG 10 /G /V mis11Minor allele frequency- A:0.00EU 1203
    rs3776100431,2
    ----35006766(+) GGAGGC/TGTGGC 10 T A mis10--------
    rs3758201581,2
    ----35004458(+) ACGGTA/GCTGCC 5 -- ut310--------
    rs3694901341,2
    ----35006926(+) CCCTGA/GGTGAA 10 T syn10--------
    rs1388509401,2
    ----35008007(+) GGTCCC/TCACAG 10 R G mis11Minor allele frequency- T:0.00NA 4542
    rs23410041,2
    ----35011260(+) CGGCCC/TCTCTG 5 -- us2k1 tfbs30--------
    rs1994763881,2,,4
    --Leukodystrophy metachromatic (MLD)4 untested135006547(-) TCTGCG/TGTCAT 10 G C mis10--------
    rs1994763821,2,,4
    --Leukodystrophy metachromatic (MLD)4 untested135007538(-) TGTCCA/GAGAGC 10 Q R mis10--------
    rs3744945021,2
    ----35007999(+) GTCATC/GAGGGT 10 L syn10--------
    rs1994763531,2,,4
    --Leukodystrophy metachromatic (MLD)4 untested135008688(-) TGGTGC/GCCAGC 10 P A mis10--------
    rs3700176781,2
    ----35011390(+) TCCCCA/GAAATA 5 -- us2k10--------
    rs346188021,2
    ----35010309(+) GTGGT-/GTTGGG 5 -- us2k10--------
    rs1994763761,2,,4
    --Leukodystrophy metachromatic (MLD)4 untested135006937(-) AGGCTC/TACTTC 10 H Y mis10--------
    rs358947661,2
    ----35011081(+) TTTGT-/GCAGTT 5 -- us2k10--------
    rs2000217111,2
    ----35010907(+) ACTGGA/TCACCT 5 -- us2k10--------
    rs787757341,2
    ----35010310(+) TGGTG-/TTGGGTGT 5 -- us2k10--------
    rs61514041,2
    ----35009868(-) GGTCTC/TTTACA 5 -- us2k11Minor allele frequency- T:0.01NS 178
    rs3705850191,2
    ----35007960(+) ACCAGC/TGTCTC 10 T syn10--------
    rs81378181,2
    ----35005050(+) gggtgA/Gatcac 5 -- ut310--------
    rs1994763451,2,,4
    --Leukodystrophy metachromatic (MLD)4 untested135008253(-) CCGCTA/GCATGG 10 Y C mis10--------
    rs3763599261,2
    ----35007901(+) TGACAA/GGGCCG 5 -- int10--------
    rs3707932091,2
    ----35007248(+) GGCCAA/GGGATC 5 -- int10--------
    rs743152701,2
    --untested135008029(-) TCCCT-/TGATGG 10 M D fra10--------
    rs3697860381,2
    ----35008224(+) GGCGTC/TGGCCA 10 N D mis10--------
    rs1114195241,2
    ----35010085(+) GGCAGGT/-GTGTG 5 -- us2k11Minor allele frequency- -:0.50CSA 2
    rs346362601,2
    ----35007832(+) TGGCA-/CCCCCC 5 -- int10--------
    rs1994763491,2,,4
    --Leukodystrophy metachromatic (MLD)4 untested135007593(-) GAGGCA/GGCTGC 10 S G mis10--------
    rs1994763601,2,,4
    --Leukodystrophy metachromatic (MLD)4 untested135007551(-) CCTACA/GAGGGC 10 K E mis10--------
    rs360191241,2
    ----35004486(+) CGCCC-/GGGAAG 5 -- ut310--------
    rs3709625141,2
    ----35007618(+) GTCTCA/GGGTCT 10 P syn10--------
    rs1994763571,2,,4
    --Leukodystrophy metachromatic (MLD)4 untested135008962(-) CCAGCC/TGGCGG 9 P L mis1 int10--------
    rs1431398011,2
    ----35006734(+) AGCAGC/TGGGGG 10 P syn11Minor allele frequency- T:0.00NA 3886
    rs1994763851,2,,4
    --Leukodystrophy metachromatic (MLD)4 untested135006606(-) CGCAGC/GTGTGA 10 A G mis10--------
    rs3764517461,2
    ----35007358(+) GGGCTA/GCCAGG 10 A V mis10--------
    rs3769105901,2
    ----35005496(+) TGCAAC/TACCGC 5 -- ut310--------
    rs1114958981,2
    ----51062341(+) AAAAAA/CAAAAA 5 -- ut310--------
    rs1994763651,2,,4
    --Leukodystrophy metachromatic (MLD)4 untested135008514(-) CCCACG/TACCAG 10 D Y mis10--------
    rs1994763791,2,,4
    --Leukodystrophy metachromatic (MLD)4 untested135007554(-) CGACCC/TACGAG 10 H Y mis10--------
    rs1994763661,2,,4
    --Leukodystrophy metachromatic (MLD)4 untested135008051(-) AGGCCA/GCGGGC 10 H R mis10--------
    rs61514171,2
    ----35007882(-) GGCCCT/CGGAGG 5 -- int11Minor allele frequency- C:0.01NS 156
    rs3737767831,2
    ----35008443(+) GCTGCA/GGGAGC 5 -- int10--------
    rs1994763591,2,,4
    --Leukodystrophy metachromatic (MLD)4 untested135007559(-) GGGAAC/TGACCT 10 T M mis10--------
    rs3675447511,2
    ----35007449(+) TCAAGG/TTTGGG 5 -- int10--------
    rs1994763461,2,,4
    --Leukodystrophy metachromatic (MLD)4 untested135009032(-) TTGCCA/GACGAC 9 N D mis1 int10--------
    rs3727055961,2
    ----35006904(+) AGGGAG/TCCACG 5 -- int10--------
    rs1409663241,2
    ----35007962(+) CAGCGT/ACTCTT 10 /T /S mis11Minor allele frequency- A:0.00NA 4504
    rs3738297501,2
    ----35006893(+) AGGTCA/GGGGGG 5 -- int10--------
    rs340433001,2
    ----35010308(+) TGTGG-/TGTTGG 5 -- us2k10--------
    rs803388201,2
    --pathogenic135006921(-) CCAGGA/GTAACC 5 -- spd10--------
    rs355191401,2
    ----35005234(+) GTACCA/CCTGCA 5 -- ut310--------
    rs1994763621,2,,4
    --untested135008741(-) CGCCCC/TCCTGA 9 P L mis1 ut510--------
    rs1443235131,2
    ----35006538(+) GCAGCC/TAGGAT 10 S G mis11Minor allele frequency- T:0.00NA 2398
    rs3690582591,2
    ----35008442(+) GGCTGC/TGGGAG 5 -- int10--------
    rs349699401,2
    ----35005054(+) GGATCA/CCCTGA 5