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EPB41L3 Gene

protein-coding   GIFtS: 66
GCID: GC18M005382

Erythrocyte Membrane Protein Band 4.1-Like 3

  See EPB41L3-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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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Erythrocyte Membrane Protein Band 4.1-Like 31 2     DAL-12 3
DAL12 3 5     Band 4.1-Like Protein 32
Differentially Expressed In Adenocarcinoma Of The Lung Protein 12 3     KIAA09873
4.1B2 3     

External Ids:    HGNC: 33801   Entrez Gene: 231362   Ensembl: ENSG000000823977   OMIM: 6053315   UniProtKB: Q9Y2J23   
ORGUL members:         

Export aliases for EPB41L3 gene to outside databases

Previous GC identifers: GC18P005437 GC18M005456


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for EPB41L3 Gene:
EPB41L3 (erythrocyte membrane protein band 4.1-like 3) is a protein-coding gene. Diseases associated with EPB41L3 include adenocarcinoma, and benign meningioma. GO annotations related to this gene include actin binding and structural constituent of cytoskeleton. An important paralog of this gene is EPB41L5.

UniProtKB/Swiss-Prot: E41L3_HUMAN, Q9Y2J2
Function: Tumor suppressor that inhibits cell proliferation and promotes apoptosis. Modulates the activity of
protein arginine N-methyltransferases, including PRMT3 and PRMT5

Gene Wiki entry for EPB41L3 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_000018.9  NT_010859.15  NC_018929.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the EPB41L3 gene promoter:
         Max1   p53   IRF-1   NF-AT   S8   NF-AT4   NF-AT2   NF-AT3   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEPB41L3 promoter sequence
   Search Chromatin IP Primers for EPB41L3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat EPB41L3


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

Entrez Gene cytogenetic band: 18p11.32   Ensembl cytogenetic band:  18p11.31   HGNC cytogenetic band: 18p11.32

EPB41L3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EPB41L3 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M005382:  view genomic region     (about GC identifiers)

Start:
5,392,383 bp from pter      End:
5,630,699 bp from pter
Size:
238,317 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: E41L3_HUMAN, Q9Y2J2 (See protein sequence)
Recommended Name: Band 4.1-like protein 3  
Size: 1087 amino acids; 120678 Da
Subunit: Interacts (via FERM domain) with CADM1. Interacts with PRMT3, PRMT5 and PRMT6
Sequence caution: Sequence=AAC79806.1; Type=Frameshift; Positions=29, 59; Sequence=BAA76831.1; Type=Erroneous
initiation; Note=Translation N-terminally shortened;
2 PDB 3D structures from and Proteopedia for EPB41L3:
2HE7 (3D)        3BIN (3D)    
Secondary accessions: O95713 Q9BRP5
Alternative splicing: 3 isoforms:  Q9Y2J2-1   Q9Y2J2-2   Q9Y2J2-3   

Explore the universe of human proteins at neXtProt for EPB41L3: NX_Q9Y2J2

Explore proteomics data for EPB41L3 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys75, Lys138, Lys162, Lys336, Lys397, Lys398, Lys405
  • Modification sites at PhosphoSitePlus

  • See EPB41L3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001268462.1  NP_001268463.1  NP_001268464.1  NP_036439.2  

    ENSEMBL proteins: 
     ENSP00000343158   ENSP00000442091   ENSP00000464570   ENSP00000462783   ENSP00000464533  
     ENSP00000462692   ENSP00000464020   ENSP00000464148   ENSP00000463122   ENSP00000461937  
     ENSP00000463289   ENSP00000462338   ENSP00000464336   ENSP00000463707   ENSP00000441174  
     ENSP00000341138   ENSP00000382981   ENSP00000392195   ENSP00000442233  

    EPB41L3 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Novus Biologicals EPB41L3 Proteins
    Novus Biologicals EPB41L3 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for EPB41L3

     
    Search eBioscience for Proteins for EPB41L3 

     
    antibodies-online proteins for EPB41L3 (4 products) 

     
    antibodies-online peptides for EPB41L3

    EPB41L3 Antibody Products:

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    antibodies-online antibodies for EPB41L3 (41 products) 

    EPB41L3 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for EPB41L3
    Cloud-Clone Corp. CLIAs for EPB41L3
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    antibodies-online kits for EPB41L3 (4 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 14):
     IPR019748 FERM_central
     IPR018980 FERM_PH-like_C
     IPR019750 Band_41_fam
     IPR000798 Ez/rad/moesin_like
     IPR019749 Band_41_domain

    Graphical View of Domain Structure for InterPro Entry Q9Y2J2

    ProtoNet protein and cluster: Q9Y2J2

    2 Blocks protein domains:
    IPB000299 Band 4.1 domain
    IPB007477 SAB


    UniProtKB/Swiss-Prot: E41L3_HUMAN, Q9Y2J2
    Similarity: Contains 1 FERM domain


    Find genes that share domains with EPB41L3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: E41L3_HUMAN, Q9Y2J2
    Function: Tumor suppressor that inhibits cell proliferation and promotes apoptosis. Modulates the activity of
    protein arginine N-methyltransferases, including PRMT3 and PRMT5

         Genatlas biochemistry entry for EPB41L3:
    erythrocyte surface protein 4.1-like 3,expressed in the brain

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005198structural molecule activity ----
    GO:0005200structural constituent of cytoskeleton TAS--
    GO:0005515protein binding IPI12234973
    GO:0008092cytoskeletal protein binding ----
         
    Find genes that share ontologies with EPB41L3           About GenesLikeMe


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Epb4.1l3):
     behavior/neurological  cellular  endocrine/exocrine gland  mortality/aging  nervous system 
     normal  reproductive system  tumorigenesis 

    Find genes that share phenotypes with EPB41L3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for EPB41L3: Epb4.1l3Epb4.tm1Sohn Epb4.1l3Epb4.tm1.1Jglt Epb4.1l3Epb4.tm1Jkis Epb4.1l3Epb4.tm1.1Bhat

       genOway: Develop your customized and physiologically relevant rodent model for EPB41L3

    miRNA
    Products:
        
    miRTarBase miRNAs that target EPB41L3:
    hsa-mir-92a-3p (MIRT049330), hsa-mir-223-3p (MIRT006374), hsa-mir-877-3p (MIRT037171), hsa-let-7b-5p (MIRT051992)

    Block miRNA regulation of human, mouse, rat EPB41L3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate EPB41L3 (see all 20):
    hsa-miR-3910 hsa-miR-181c hsa-miR-1271 hsa-let-7a-2* hsa-miR-488 hsa-miR-197 hsa-let-7g* hsa-miR-330-3p
    SwitchGear 3'UTR luciferase reporter plasmidEPB41L3 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for EPB41L3
    Predesigned siRNA for gene silencing in human, mouse, rat EPB41L3

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for EPB41L3

    Clone
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    OriGene clones in human, mouse for EPB41L3 (see all 7)
    OriGene ORF clones in mouse, rat for EPB41L3
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    GenScript: all cDNA clones in your preferred vector: EPB41L3 (NM_012307)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EPB41L3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EPB41L3

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EPB41L3


    (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
    E41L3_HUMAN, Q9Y2J2: Cytoplasm, cytoskeleton (By similarity). Cell junction. Cell membrane; Peripheral membrane
    protein; Cytoplasmic side. Cytoplasm. Note=Detected in the cytoplasm of actively dividing cells
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol3
    cytoskeleton2
    extracellular1
    mitochondrion1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005856cytoskeleton IEA--
    GO:0005886plasma membrane NAS9892180
    GO:0005911cell-cell junction IDA12234973
    GO:0019898extrinsic component of membrane IEA--

    Find genes that share ontologies with EPB41L3           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 EPB41L3 About    
    See pathways by source

    SuperPathContained pathways About
    1Tight junction
    Tight junction


    Find genes that share SuperPaths with EPB41L3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for EPB41L3):
        Tight junction

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for EPB41L3
    Interactions:

        GeneGlobe Interaction Network for EPB41L3

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

    Selected Interacting proteins for EPB41L3 (Q9Y2J22, 3 ENSP000003411384) via UniProtKB, MINT, STRING, and/or I2D (see all 589)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHABP319462, 3, ENSP000003001614MINT-50963 I2D: score=5 STRING: ENSP00000300161
    YWHAGP619812, 3, ENSP000003063304MINT-50838 I2D: score=5 STRING: ENSP00000306330
    YWHAZP631042, 3, ENSP000003095034MINT-51018 I2D: score=5 STRING: ENSP00000309503
    SPTBN1Q010822, 3, ENSP000003492594MINT-7947479 I2D: score=2 STRING: ENSP00000349259
    CNTNAP2Q9UHC63, ENSP000003547784I2D: score=4 STRING: ENSP00000354778
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002175protein localization to paranode region of axon ISS--
    GO:0006915apoptotic process IEA--
    GO:0007016cytoskeletal anchoring at plasma membrane TAS--
    GO:0008150biological_process ND--
    GO:0008360regulation of cell shape ISS--

    Find genes that share ontologies with EPB41L3           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 EPB41L3 (E41L3)

    3 Novoseek inferred chemical compound relationships for EPB41L3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    5-aza-2'deoxycytidine 67.2 10 19115211 (1), 17260099 (1), 15837747 (1), 16205641 (1)
    progesterone 15.4 3 11589430 (1), 11079777 (1)
    thymidine 8.69 2 15116094 (1), 15688033 (1)



    Find genes that share compounds with EPB41L3           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 EPB41L3 gene (4 alternative transcripts): 
    NM_001281533.1  NM_001281534.1  NM_001281535.1  NM_012307.3  

    Unigene Cluster for EPB41L3:

    Erythrocyte membrane protein band 4.1-like 3
    Hs.213394  [show with all ESTs]
    Unigene Representative Sequence: AL832598
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 38):
    ENST00000341928(uc010wze.1 uc010wzf.1 uc010wzg.1 uc010dkr.2 uc010wzh.1 uc002kmt.1 uc002kmu.1 uc010dkq.1)
    ENST00000578618 ENST00000542652(uc002kms.1) ENST00000540638 ENST00000545076
    ENST00000579951 ENST00000578524 ENST00000581292 ENST00000584055 ENST00000581387
    ENST00000579271 ENST00000580647 ENST00000580316 ENST00000578196 ENST00000582729
    ENST00000578395 ENST00000581661 ENST00000584670
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate EPB41L3 (see all 20):
    hsa-miR-3910 hsa-miR-181c hsa-miR-1271 hsa-let-7a-2* hsa-miR-488 hsa-miR-197 hsa-let-7g* hsa-miR-330-3p
    SwitchGear 3'UTR luciferase reporter plasmidEPB41L3 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat EPB41L3
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    GenScript: all cDNA clones in your preferred vector: EPB41L3 (NM_012307)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EPB41L3
    Primer
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      QuantiFast Probe-based Assays in human, mouse, rat EPB41L3

    Additional mRNA sequence: 

    AB023204.1 AF069072.1 AF515797.1 AK090875.1 AK094952.1 AK128531.1 AK292583.1 AK294610.1 
    AK294690.1 AK295453.1 AK297406.1 AK303679.1 AK307751.1 AK307904.1 AK314438.1 AL832598.2 
    BC006141.1 BC008377.1 BC144531.1 

    21 DOTS entries:

    DT.100811666  DT.100680879  DT.448097  DT.102839096  DT.91651680  DT.100811665  DT.100037099  DT.100760852 
    DT.121103773  DT.121103834  DT.95255086  DT.100746176  DT.91756598  DT.91756605  DT.97801097  DT.100675153 
    DT.102839110  DT.121103786  DT.121103787  DT.121103845  DT.86853288 

    Selected AceView cDNA sequences (see all 188):

    CK824976 AA137177 CD671393 AA757612 AI089001 BQ100946 CA397120 BG655507 
    Z43119 BE790193 AI300230 Z39205 AA946867 BU734855 BM310084 AA969754 
    AL832598 CA406389 BQ723106 BQ721327 AA321945 BQ718050 BC006141 AA495835 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for EPB41L3 (see all 18)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b · 15c · 15d · 15e ^ 16 ^ 17a · 17b ^ 18 ^
    SP1:                          -     -     -                                                                                               -     -           -   
    SP2:                                                                                                                                      -     -           -   
    SP3:                          -     -     -                                   -     -     -     -     -     -     -     -     -     -     -     -     -     -   
    SP4:                                                                                                                                      -     -           -   
    SP5:                          -     -     -                                                                                                                     

    ExUns: 19a · 19b · 19c ^ 20a · 20b · 20c ^ 21 ^ 22a · 22b ^ 23a · 23b · 23c ^ 24a · 24b ^ 25a · 25b ^ 26 ^ 27 ^ 28a · 28b ^ 29a · 29b · 29c · 29d · 29e
    SP1:              -     -     -     -     -     -     -                                                                                                   
    SP2:                    -     -     -     -     -     -                                                                                                   
    SP3:  -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -                                       
    SP4:              -     -     -     -           -                                                                                                         
    SP5:                                                                                                                                                      


    ECgene alternative splicing isoforms for EPB41L3

    (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)
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    EPB41L3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGAATGTAT
    EPB41L3 Expression
    About this image


    EPB41L3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 17) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             GABAergic Amacrine Cells Inner Nuclear Layer
     
     Neurons
             GABAergic Amacrine Cells Inner Nuclear Layer
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
     
     Lateral Plate Mesoderm (Gastrulation Derivatives)    fully expand to see all 2 entries
             PureStem E15, Meso-prx/latp Progenitor
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
    EPB41L3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EPB41L3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.213394

    UniProtKB/Swiss-Prot: E41L3_HUMAN, Q9Y2J2
    Tissue specificity: Expressed at high levels in brain, with lower levels in kidney, intestine, and testis.
    Detected in lung

        Custom PCR Arrays for EPB41L3
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for EPB41L3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat EPB41L3
    QuantiTect SYBR Green Assays in human, mouse, rat EPB41L3
    QuantiFast Probe-based Assays in human, mouse, rat EPB41L3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EPB41L3

    (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

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    This gene was present in the common ancestor of animals.

    Orthologs for EPB41L3 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Epb4.1l31 , 5 erythrocyte protein band 4.1-like 31, 5 83.35(n)1
    88.12(a)1
      17 (40.15 cM)5
    138231  NM_013813.11  NP_038841.11 
     691568105 
    chicken
    (Gallus gallus)
    Aves EPB41L31 erythrocyte membrane protein band 4.1-like 3 78.95(n)
    83(a)
      421055  XM_419142.4  XP_419142.4 
    lizard
    (Anolis carolinensis)
    Reptilia EPB41L36
    erythrocyte membrane protein band 4.1-like 3
    77(a)
    1 ↔ 1
    4(41795834-41872508)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC060449.12   -- 77.57(n)    BC060449.1 
    zebrafish
    (Danio rerio)
    Actinopterygii epb41l3b1 erythrocyte membrane protein band 4.1-like 3b 63.38(n)
    66.58(a)
      407981  NM_214812.1  NP_999977.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta cora3 cytoskeleton organization and
    biogenesis cytoskeletal more
    60(a)
    (best of 2)
      56C4   --


    ENSEMBL Gene Tree for EPB41L3 (if available)
    TreeFam Gene Tree for EPB41L3 (if available)

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

    TryGeneCards Plus
    Paralogs for EPB41L3 gene
    EPB41L52  EPB412  FRMD32  EPB41L12  PTPN32  EPB41L4B2  FARP12  PTPN42  
    FRMD52  FRMD72  EPB41L4A2  FARP22  EPB41L22  
    15 SIMAP similar genes for EPB41L3 using alignment to 16 protein entries:     E41L3_HUMAN (see all proteins):
    DKFZp564J1082    PTPN4    EPB41L2    EPB41L1    FARP1    FRMD5
    EPB41L5    FARP2    EPB41L4B    EPB41L4A    EPB41    PTPN21
    RDX    FRMD3    MSN

    Find genes that share paralogs with EPB41L3           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 EPB41L3 (see all 3226)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs788986581,2
    F--5381401(+) TGTAAG/ATTAGA 1 -- ds50011Minor allele frequency- A:0.07WA 118
    rs118730151,2
    C,F,H--5381418(+) TTCAAA/CTTCAC 1 -- ds50013Minor allele frequency- C:0.03NA WA 212
    rs1834602101,2
    --5381505(+) GAGATA/GGATAT 1 -- ds50010--------
    rs1500855001,2
    C--5381529(+) GATGAC/TGGGGA 1 -- ds50010--------
    rs118763591,2
    C,F,H--5381531(+) TGACGG/CGGACA 1 -- ds50015Minor allele frequency- C:0.07NA CSA WA EA 244
    rs1137869441,2
    C--5381608(+) TTATTA/-AAAAA 1 -- ds50011Minor allele frequency- -:0.00CSA 2
    rs1153986341,2
    F--5381682(+) AAATAT/CTTAAA 1 -- ds50011Minor allele frequency- C:0.03WA 118
    rs739371181,2
    C,F--5381746(+) CTGTAC/TACTCT 1 -- ds50011Minor allele frequency- T:0.50WA 2
    rs2013416091,2
    --5381757(+) TGGGG-/TTTTTT 1 -- ds50010--------
    rs580492471,2
    C,F--5381798(+) CTACCG/ATGCAG 1 -- ds50012Minor allele frequency- A:0.15CSA WA 120
    rs1427405451,2
    C--5381821(+) TTTGAC/TGTCAT 1 -- ds50010--------
    rs582413801,2
    --5381849(+) ACTAAA/GCACAT 1 -- ds50010--------
    rs1380823681,2
    --5381853(+) AACACA/GTACAA 1 -- ds50010--------
    rs739371191,2
    C,F--5381955(+) TGATGC/TAGGTG 1 -- ut311Minor allele frequency- T:0.50WA 2
    rs1440974411,2
    --5381968(+) CGTGTA/GATGGA 1 -- ut310--------
    rs11408361,2
    C--5382029(-) TTTCCA/CCTGTA 1 -- ut31 ese33Minor allele frequency- C:0.01MN NA 188
    rs1899393951,2
    --5382151(+) GGCACA/GGAAAA 1 -- ut310--------
    rs99534901,2
    C,F,A,H--5382159(+) AAAAGT/AAACTA 1 -- ut3113Minor allele frequency- A:0.33NS EA WA NA CSA 786
    rs1486905031,2
    C--5382282(+) CTGGAG/TTGAAC 1 -- ut310--------
    rs1413785271,2
    C--5382317(+) AGAAAC/TCGCAT 1 -- ut310--------
    rs728650981,2
    C--5382337(+) AAAATA/CAGTAC 1 -- ut310--------
    rs733739991,2
    C--5382390(+) AAGCAT/CTACAT 1 -- ut312Minor allele frequency- C:0.04WA 120
    rs1811599291,2
    --5382404(+) TCCAGA/GGGGTC 1 -- ut310--------
    rs1871222081,2
    --5382459(+) AAACAA/CGTACA 1 -- ut310--------
    rs800081141,2
    C,F--5382530(+) CGGACG/AGACCT 1 -- ut312Minor allele frequency- A:0.03WA NA 238
    rs728651001,2
    C,F--5383111(+) TCCAGC/TGTTAA 1 -- int13Minor allele frequency- T:0.03WA NA EA 358
    rs769618941,2
    C,F--5383159(+) AACAAC/TGCCCA 1 -- int11Minor allele frequency- T:0.05WA 118
    rs802712601,2
    C--5383179(+) AGCTCA/GTGGAA 1 -- int10--------
    rs42587181,2
    C,F,A--5383192(-) TAAAAC/AAGATT 1 -- int15Minor allele frequency- A:0.20NA WA 244
    rs44413671,2
    C,F,A,H--5383212(-) TTGGAC/AGATAG 1 -- int129Minor allele frequency- A:0.17NS EA NA WA CSA 2910
    rs746303811,2
    F--5383369(+) CAAGTC/TGCTCG 1 -- int11Minor allele frequency- T:0.01EA 120
    rs1899130511,2
    --5383373(+) TCGCTC/TGACTG 1 -- int10--------
    rs44413661,2
    C,F,A,H--5383583(-) CCTAGC/TGTAGC 1 -- int124Minor allele frequency- T:0.08NS EA NA WA CSA 2459
    rs796690981,2
    C,F--5383612(+) GAATAC/TAGGAA 1 -- int12Minor allele frequency- T:0.02WA NA 238
    rs44535981,2
    C,F,A,H--5383697(-) TTGTAA/GCCTGT 1 -- int126Minor allele frequency- G:0.07NS EA NA WA CSA 2685
    rs1825908831,2
    --5383806(+) TGAGCC/TTCTCA 1 -- int10--------
    rs1864124851,2
    --5383874(+) TTACAA/TATTTG 1 -- int10--------
    rs1465798871,2
    --5384091(+) ACAGAC/GGAAAG 1 -- int10--------
    rs3739666441,2
    C--5384175(+) ATCACC/TTCTTA 1 -- int10--------
    rs1998316541,2
    C--5384185(+) ACCTCT/GGGTCA 1 -- ut311Minor allele frequency- G:0.00EU 1323
    rs1408306601,2
    C,F--5384191(+) GGTCAA/TTCCTC 2 E D mis12Minor allele frequency- T:0.00NA EU 5875
    rs1996163311,2
    --5384192(+) GTCAAA/TCCTCT 2 D V mis10--------
    rs1908753581,2
    --5384258(+) TGTCAG/TGGTGC 2 H P mis10--------
    rs2015926291,2
    --5384288(+) TTGCCC/TGAGCC 2 Q R mis10--------
    rs1823134301,2
    --5384457(+) AGTTAA/GTTCGG 1 -- int10--------
    rs786516921,2
    C,F--5384472(+) TTCTTC/TGGAAT 1 -- int11Minor allele frequency- T:0.01NA 120
    rs1851702211,2
    C--5384531(+) TTTCTC/TTGTTT 1 -- int10--------
    rs2007525481,2
    C--5384550(+) GGGTAG/TTTACC 1 -- int10--------
    rs1405486841,2
    C,F--5384604(+) CGTGAT/CGACTA 2 /I /V mis11Minor allele frequency- C:0.00NA 4550
    rs2000473471,2
    C--5384665(+) ACACGC/TAGAGA 1 -- int10--------
    rs1401045981,2
    C--5384754(+) CTCTTC/TGAGAA 1 -- int10--------
    rs1160429301,2
    F--5384757(+) TTCGAG/TAATTG 1 -- int11Minor allele frequency- T:0.02WA 118
    rs1828976401,2
    --5384931(+) GAACTC/TGCACG 1 -- int10--------
    rs1888335551,2
    --5384935(+) TCGCAC/TGTGAG 1 -- int10--------
    rs72299031,2
    C,F,A,H--5384936(+) CGCACG/ATGAGG 1 -- int113Minor allele frequency- A:0.08NS EA NA CSA WA 1556
    rs733757041,2
    C,F--5384984(+) CCTTGC/TAGCTA 1 -- int14Minor allele frequency- T:0.10WA CSA 126
    rs1928798301,2
    --5384995(+) TCCCGG/TCGTCC 1 -- int10--------
    rs2018333861,2
    --5385066(+) CTTCCA/TCCAGC 1 -- int10--------
    rs2009959181,2
    C--5385097(+) TCTCGA/GTTCTC 1 -- int10--------
    rs2004746911,2
    --5385114(+) CTTACC/TTTGGT 2 K syn10--------
    rs2020006841,2
    --5385123(+) GTGATA/GTGCGT 2 H syn10--------
    rs1498242111,2
    C--5385183(+) AGCACA/G/TCCTGG 3 G syn11NA 4552
    rs1458349201,2
    C--5385209(+) TGGATA/CGACCT 2 D Y mis10--------
    rs1161486371,2
    C,F--5385210(+) GGATCG/AACCTA 2 /V syn11Minor allele frequency- A:0.00NA 4552
    rs1490032161,2
    C--5385236(+) AGACCC/TCTCAT 1 -- int10--------
    rs2002123871,2
    --5385256(+) CACATC/GTGCTC 1 -- int10--------
    rs1438339431,2
    C--5385261(+) CTGCTC/TTTCAG 1 -- int10--------
    rs1827363501,2
    --5385278(+) GCTACA/GTTATT 1 -- int10--------
    rs1118202331,2
    C--5385300(+) ACAATTTCAC   
      TATC
    /-
    TTCAC
    1 -- cds11Minor allele frequency- -:0.50CSA 2
    rs1477644781,2
    --5385306(+) TTCACA/TATCTC 1 -- int10--------
    rs1411440091,2
    --5385346(+) TCTGAA/GCGCTG 1 -- int10--------
    rs733757051,2
    C,F--5385384(+) CACAGG/ATAACT 1 -- int14Minor allele frequency- A:0.13WA CSA 123
    rs2016492491,2
    --5385549(+) CTAAT-/AAAATGA 1 -- int10--------
    rs1121879921,2
    C--5385550(+) AATAAT/-AATGA 1 -- int11Minor allele frequency- -:0.00CSA 2
    rs1469471911,2
    --5385564(+) TTATTG/TCATCA 1 -- int10--------
    rs1877621641,2
    --5385577(+) TTTAAC/TAGAAA 1 -- int10--------
    rs1151317481,2
    F--5385586(+) AATGGT/GCTGGC 1 -- int11Minor allele frequency- G:0.02WA 118
    rs1380173021,2
    C--5385713(+) GTGATA/GATTCA 2 S L mis10--------
    rs795928971,2
    C--5385764(+) CCTTCG/ATGGAA 2 /T /M mis12Minor allele frequency- A:0.00EA NA 4670
    rs1480452831,2
    C,F--5385820(+) GTTTCC/TGTCTT 2 T syn12Minor allele frequency- T:0.00NA EU 5871
    rs617354591,2
    C,F--5385830(+) TCACCG/TTTGAG 2 K T mis13Minor allele frequency- T:0.01NS NA EU 5947
    rs1483720471,2
    --5385868(+) GGCTG-/GGG   
      GGGGGT
    TTATA
    1 -- cds10--------
    rs1501386821,2
    C--5385925(+) ATAAGC/TACAGG 1 -- int10--------
    rs1386047001,2
    --5385983(+) CATACA/GACATG 1 -- int10--------
    rs1126981991,2
    C--5385995(+) CATGTCAAA/-  
            
    CAGTC
    1 -- int11Minor allele frequency- -:0.00CSA 2
    rs571919551,2
    C--5385997(+) TGTCA-/AACA  
            
    GTCTC
    1 -- int10--------
    rs588178211,2
    C,F--5386019(+) TAGCAC/TTTTTA 1 -- int13Minor allele frequency- T:0.09WA NA 240
    rs588667091,2
    C,F--5386079(+) GTTTTC/ATATTT 1 -- int12Minor allele frequency- A:0.09WA 120
    rs1923931101,2
    --5386118(+) AATGAG/TACATT 1 -- int10--------
    rs1836782691,2
    --5386122(+) AGACAC/TTAACT 1 -- int10--------
    rs574020651,2
    C,F--5386148(+) GAATCT/CCAATA 1 -- int14Minor allele frequency- C:0.11WA CSA 122
    rs1493158431,2
    C--5386192(+) GACCCA/GGGTAA 1 -- int10--------
    rs1446236221,2
    C--5386223(+) GAAAAC/GTGCAC 1 -- int10--------
    rs739371201,2
    C,F--5386335(+) TTCCTG/AGTGCC 1 -- int11Minor allele frequency- A:0.50WA 2
    rs1427668791,2
    --5386338(+) CTGGTA/GCCATA 1 -- int10--------
    rs591763981,2
    C,F--5386442(+) AGAAAT/CACACT 1 -- int15Minor allele frequency- C:0.24WA CSA EA 245
    rs116613711,2
    C,F,H--5386482(+) AGCTCC/TACCTT 1 -- int117Minor allele frequency- T:0.06NS EA NA EU 2343
    rs105254871,2
    C--5386523(+) ATCAG-/TTTTA 
            
    TTTTA
    1 -- int10--------
    rs1891212471,2
    --5386525(+) CAGTTC/TTATTT 1 -- int10--------
    rs1460753201,2
    C,F--5386634(+) CTCACG/AGGAAG 2 /R /C mis11Minor allele frequency- A:0.01NA 4552
    rs1929742841,2
    C--5386644(+) GCAGCA/GGCTGT 2 A syn10--------
    rs790154631,2
    C--5386710(+) CCCTCC/TGTCAA 2 T syn10--------
    rs1428533451,2
    C,F--5386711(+) CCTCCG/ATCAAG 2 /T /M mis12Minor allele frequency- A:0.00NA EU 5875
    rs1472471531,2
    C--5386751(+) GAATGC/TGGGCT 2 T A mis11Minor allele frequency- T:0.00NA 4552
    rs1997697411,2
    --5386767(+) GCAGCA/GTCCCC 2 D syn10--------
    rs1431558971,2
    C,F--5386773(+) TCCCCG/ACTGTC 2 /S syn12Minor allele frequency- A:0.00NA EU 5873
    rs1474807861,2
    C--5386799(+) AGCATC/ACCCAC 2 /D /Y mis11Minor allele frequency- A:0.00NA 4548
    rs1485685791,2
    C,F--5386802(+) ATCCCC/TACTCG 2 R G mis11Minor allele frequency- T:0.00NA 4542
    rs2008698581,2
    --5386819(+) CCACAC/TGCCGC 2 H R mis10--------
    rs1510822241,2
    C,F--5386821(+) ACACGC/TCGCTC 2 R syn12Minor allele frequency- T:0.00NA EU 5853
    rs1399975571,2
    C,F--5386823(+) ACGCCG/ACTCCT 2 /R /W mis12Minor allele frequency- A:0.00NA EU 5849
    rs80964521,2,,4
    C,F,A,H--5386829(+) CTCCTC/GCACCA 2 Q E mis1 ese310Minor allele frequency- G:0.01NS EA NA 5070
    rs2001132801,2
    C--5386832(+) CTCCAC/TCAACA 2 M V mis10--------
    rs2017408941,2
    --5386833(+) TCCACC/TAACAC 2 L syn10--------
    rs2011959041,2
    --5386839(+) AACACG/TGTCTC 2 T syn10--------
    rs1402303361,2
    C,F--5386870(+) TAAGCG/AGCAGG 2 /P /L mis12Minor allele frequency- A:0.00NA EU 5581
    rs1512946721,2
    C,F--5386883(+) GTGCAC/TGGTGG 2 M V mis12Minor allele frequency- T:0.00NA EU 5677
    rs617364601,2
    C,F--5386889(+) GGTGGG/ATTCCG 2 /P /S mis14Minor allele frequency- A:0.02NS NA EU 5969
    rs1904036761,2
    C--5386893(+) GGTTCC/TGTCTC 2 T syn10--------
    rs1431413791,2
    C--5386894(+) GTTCCG/ATCTCT 2 /T /M mis11Minor allele frequency- A:0.00NA 4484
    rs1164590261,2
    C,F--5386910(+) ACTGGA/CCTCCG 2 A S mis12Minor allele frequency- C:0.01WA NA 4642
    rs1393703911,2
    C--5386959(+) ATCAGC/TGTGAC 1 -- int10--------
    rs1816315691,2
    C--5386965(+) GTGACC/GATCCA 1 -- int11Minor allele frequency- G:0.00EU 1323
    rs1500530081,2
    --5387058(+) CTGACA/GAAAAA 1 -- int10--------
    rs733757081,2
    C--5387171(+) CAAACG/AGAAGG 1 -- int12Minor allele frequency- A:0.07WA 120
    rs1859153741,2
    --5387222(+) GCAGCA/GCATTC 1 -- int10--------
    rs3676044481,2
    C--5387323(+) CTTTCA/GATAGT 1 -- int10--------
    rs1477482821,2
    --5387333(+) GTGAAA/GTACAT 1 -- int10--------
    rs1410761441,2
    --5387380(+) CAAGCA/GGACAC 1 -- int10--------
    rs1469309111,2
    --5387394(+) GGACAA/GTAAGT 1 -- int10--------
    rs1475737791,2
    C--5387455(+) ACTCAC/TGCCCA 1 -- int10--------
    rs1470086741,2
    C,F--5387640(+) GAAGAC/GTGCTT 2 H Q mis12Minor allele frequency- G:0.00NA EU 5873
    rs1490527661,2
    C--5387696(+) CACAAA/GCTCAG 1 -- int10--------
    rs791654821,2
    F--5387736(+) AAATCA/GTAGGC 1 -- int10--------
    rs1430893161,2
    --5387900(+) TTTCCC/TCTTCA 1 -- int10--------
    rs1482370041,2
    --5387906(+) CTTCAC/TTGCAA 1 -- int10--------
    rs1861958141,2
    --5387975(+) TTTAAC/TGCTGA 1 -- int10--------
    rs1412625201,2
    --5388185(+) AGTAAC/GGTAAT 1 -- int10--------
    rs1503636691,2
    --5388186(+) GTAACA/GTAATG 1 -- int10--------
    rs1130041001,2
    C,F--5388257(+) TCGGGG/TACCAA 1 -- int13Minor allele frequency- T:0.05CSA WA 121
    rs770867521,2
    C,F--5388276(+) ACTTTT/CAAGAC 1 -- int13Minor allele frequency- C:0.12CSA WA 121
    rs1427036201,2
    --5388347(+) GGCCAC/GATCCT 1 -- int10--------
    rs1907682751,2
    --5388449(+) TTTCCA/GCTGTG 1 -- int10--------
    rs733757091,2
    C,F--5388475(+) GTCCTC/GTCTTG 1 -- int14Minor allele frequency- G:0.21WA CSA 124
    rs80850721,2
    C,F,H--5388494(+) ATCAGC/TGAGGG 1 -- int18Minor allele frequency- T:0.06NS EA CSA WA 543
    rs1834192171,2
    --5388527(+) CAGGCC/TGGGAA 1 -- int10--------
    rs603799891,2
    F--5388528(+) AGGCCG/AGGAAT 1 -- int11Minor allele frequency- A:0.03WA 118
    rs1460552451,2
    C--5388615(+) CCCTCG/TTTAGC 1 -- int10--------
    rs1863739831,2
    --5388621(+) TTAGCA/TTTCCC 1 -- int10--------
    rs777180751,2
    C,F--5388718(+) TTTCTC/TGAGCC 1 -- int11Minor allele frequency- T:0.08WA 118
    rs80890251,2
    C,F,A,H--5388862(+) GTATTC/TTGTCT 1 -- int120Minor allele frequency- T:0.13NS EA NA CSA WA 2060
    rs1912303201,2
    --5388944(+) TTTCTA/GAAATA 1 -- int10--------
    rs1829525121,2
    --5389060(+) CTGAAA/GTGATA 1 -- int10--------
    rs1872619721,2
    --5389166(+) TTGCTC/TTTATG 1 -- int10--------
    rs761202391,2
    C,F--5389313(+) AGAGAG/ACTTCC 1 -- int14Minor allele frequency- A:0.17CSA WA EA 242
    rs1926490671,2
    --5389351(+) TTTCCA/GTATTT 1 -- int10--------
    rs787085691,2
    C,F--5389369(+) GTATTT/CCTTTA 1 -- int11Minor allele frequency- C:0.12EA 120
    rs762927291,2
    C--5389487(+) GCCTCT/CTACAG 1 -- int14Minor allele frequency- C:0.06CSA WA NA EA 360
    rs1493697551,2
    --5389561(+) CAGGTC/TGGCCT 1 -- int10--------
    rs559973181,2
    C,F--5389632(+) CACATG/ACCATT 1 -- int12Minor allele frequency- A:0.04NA EA 240
    rs1831715951,2
    --5389707(+) TTAGTG/TTTAGT 1 -- int10--------
    rs765451651,2
    C,F--5389772(+) AATACA/CATATG 1 -- int11Minor allele frequency- C:0.03NA 120
    rs765233501,2
    C,F--5389778(+) ATATGA/GCCAGG 1 -- int11Minor allele frequency- G:0.03WA 118
    rs1447422361,2
    --5390123(+) AAGAAC/TTCAGA 1 -- int10--------
    rs1880638111,2
    --5390147(+) GTCAAC/TTTCAT 1 -- int10--------
    rs1922793331,2
    --5390284(+) ATGATC/GCATAA 1 -- int10--------
    rs1485497981,2
    --5390294(+) ACTGAA/TAACTA 1 -- int10--------
    rs1429258571,2
    --5390493(+) ATGGAA/GCGCTT 1 -- int10--------
    rs1842855501,2
    --5390637(+) GTATTA/CTCTCT 1 -- int10--------
    rs1473121941,2
    --5390643(+) TCTCTA/CTCTAT 1 -- int10--------
    rs1410142471,2
    --5390697(+) TGAAGA/GAGTAA 1 -- int10--------
    rs750042071,2
    C,F--5390900(+) TGTTGG/ATATCA 1 -- int11Minor allele frequency- A:0.08WA 118
    rs562048891,2
    C,F--5390916(+) TGGGTA/GTTTAA 1 -- int14Minor allele frequency- G:0.21WA CSA 124
    rs1879961941,2
    --5390988(+) TATTCC/TCCATT 1 -- int10--------
    rs1916858461,2
    --5390997(+) TTTAGG/TTGCTG 1 -- int10--------
    rs1117550671,2
    C,F--5391073(+) TTATAA/CTTAGA 1 -- int12Minor allele frequency- C:0.33CSA 3
    rs47983501,2
    C,F,H--5391091(+) ATTTAT/ATGCCC 1 -- int15Minor allele frequency- A:0.03NS EA NA 540
    rs1138165821,2
    C,F--5391278(+) TAACTT/ACTTTT 1 -- int12Minor allele frequency- A:0.08CSA WA 120
    rs1151924051,2
    F--5391354(+) TTGAAC/GCAAGC 1 -- int11Minor allele frequency- G:0.03WA 118
    rs1449632501,2
    --5391535(+) ACCAGC/TACTAC 1 -- int10--------
    rs728668091,2
    C,F--5391597(+) CAGGAC/TCTACC 1 -- int11Minor allele frequency- T:0.03NA 120
    rs1161500091,2
    C,F--5391759(+) TGTGGA/CATCAT 1 -- int11Minor allele frequency- C:0.07WA 118
    rs129670911,2
    C,F,H--5391772(+) AATGTG/AGATTT 1 -- int16Minor allele frequency- A:0.01NS EA NA 522
    rs2001210871,2
    --5391788(+) CTTTT-/CCTTTT 1 -- int10--------
    rs566953861,2
    C--5391789(+) TTTTCC/TTTTTT 1 -- int14Minor allele frequency- T:0.07CSA WA NA EA 360
    rs129684891,2
    H--5391925(+) TATTCC/TTAAGA 1 -- int14Minor allele frequency- T:0.00NS EA 418
    rs1889823021,2
    --5391950(+) AACCCC/TCAGCG 1 -- int10--------
    rs1475541431,2
    --5392021(+) TCTTAC/TAATTG 1 -- int10--------
    rs1820783841,2
    --5392063(+) TGTATA/GTCCAA 1 -- int10--------
    rs777830211,2
    F--5392316(+) CTGGCA/GCACAA 1 -- int10--------
    rs774303201,2
    C,F--5392441(+) AATCAT/ACTAGC 1 -- int12Minor allele frequency- A:0.05CSA WA 120
    rs728668101,2
    C,F--5392472(+) GAACAC/TGCCTG 1 -- int12Minor allele frequency- T:0.04NA EA 240
    rs1904603031,2
    --5392509(+) GGACAA/GTATCG 1 -- int10--------
    rs1808620191,2
    C--5392560(+) ATTTGG/TAAACT 1 -- int10--------
    rs1143128461,2
    C,F--5392606(+) TAACAT/CGGACA 1 -- int11Minor allele frequency- C:0.09WA 118
    rs99571791,2
    C,F,A,H--5392676(+) TGGCAC/TGCTGT 1 -- int15Minor allele frequency- T:0.04NS EA WA 536
    rs1158247651,2
    F--5392677(+) GGCACG/ACTGTA 1 -- int11Minor allele frequency- A:0.03WA 118
    rs99565821,2
    C,F,H--5392712(+) TGTTTG/CGTGGG 1 -- int15Minor allele frequency- C:0.03NS EA WA 538
    rs1859648271,2
    --5392725(+) CTGTGG/TGTGGG 1 -- int10--------
    rs1901732021,2
    --5392945(+) TTTGAA/GTTGTT 1 -- int10--------
    rs80990751,2
    C,F,A,H--5393014(+) CAACAG/ATATAA 1 -- int122Minor allele frequency- A:0.13NA NS EA CSA WA 2448
    rs1407216961,2
    --5393185(+) ACACAA/GAATAA 1 -- int10--------
    rs1153192301,2
    C,F--5393244(+) CCATTT/CGGAAG 1 -- int11Minor allele frequency- C:0.02WA 118
    rs99577941,2
    C,F,H--5393299(+) GTAGGC/ATTTAT 1 -- int15Minor allele frequency- A:0.01NS EA WA 504
    rs1811482291,2
    --5393340(+) TTATTC/TTAAAA 1 -- int10--------
    rs1859857341,2
    --5393455(+) TTGTGC/TTTTTC 1 -- int10--------
    rs1496814001,2
    --5393499(+) ATAGAA/TATAGG 1 -- int10--------
    rs72360891,2
    C,F,H--5393656(+) TGCCAT/CGGGGA 1 -- int18Minor allele frequency- C:0.17NS EA CSA WA 662
    rs758253571,2
    C,F--5393696(+) CTTTTC/TCCCTG 1 -- int11Minor allele frequency- T:0.08WA 118
    rs1904998241,2
    --5393744(+) TTTGAC/TAAGCA 1 -- int10--------
    rs1842108911,2
    --5393746(+) TGATAA/CGCAGG 1 -- int10--------
    rs72323331,2
    C,F,H--5393845(+) GGACTG/ACAAAA 1 -- int124Minor allele frequency- A:0.10NS EA NA WA CSA 2352
    rs1888150291,2
    --5393862(+) TGCAGA/CCGCTG 1 -- int10--------
    rs72317431,2
    C,F,H--5393863(+) gcagaC/Tgctga 1 -- int114Minor allele frequency- T:0.10NS EA NA CSA WA 1794
    rs129594871,2
    C,F,H--5393985(+) CTGGCC/GTTCTC 1 -- int115Minor allele frequency- G:0.05NS EA WA NA CSA 778
    rs728668121,2
    C,F--5394049(+) ATATTC/AAAAGT 1 -- int12Minor allele frequency- A:0.04NA EA 240
    rs1151294071,2
    F--5394052(+) TTCAAA/GGTACT 1 -- int11Minor allele frequency- G:0.01WA 118
    rs1455134311,2
    --5394082(+) TTGGGC/TTTATC 1 -- int10--------
    rs1921028591,2
    --5394090(+) ATCAAA/CTGTTA 1 -- int10--------
    rs1826624711,2
    --5394097(+) GTTAAC/TTCTCT 1 -- int10--------
    rs620805451,2
    F--5394154(+) TAATAG/ACCTGG 1 -- int11Minor allele frequency- A:0.50NA 2
    rs285569711,2
    C--5394165(+) ACTTAT/CGAAGT 1 -- int12Minor allele frequency- C:0.12CSA WA 120
    rs1877979821,2
    --5394202(+) AAATTA/CTCTAA 1 -- int10--------
    rs1918684271,2
    --5394230(+) CATTCA/GAAGTG 1 -- int10--------
    rs1454411611,2
    C--5394233(+) TCAAAC/GTGGCG 1 -- int10--------
    rs1841552901,2
    --5394237(+) AGTGGA/CGATCA 1 -- int10--------
    rs72370451,2
    C,F,A--5394281(+) TTGGGT/GTGGCT 1 -- int15Minor allele frequency- G:0.13CSA WA NA EA 362
    rs1380634951,2
    --5394291(+) TATTTA/GGTTTG 1 -- int10--------
    rs1876548381,2
    --5394360(+) AGAGGG/TAGTAG 1 -- int10--------
    rs1921806161,2
    --5394387(+) ACTTAA/GCCAAT 1 -- int10--------
    rs1850872141,2
    --5394437(+) GACTAC/TTATAT 1 -- int10--------
    rs1904667431,2
    --5394615(+) TTTGGA/GATTGT 1 -- int10--------
    rs1822428521,2
    --5394622(+) TTGTCA/GTGAAC 1 -- int10--------
    rs1156686531,2
    F--5394677(+) AAGGTT/CTAGAA 1 -- int11Minor allele frequency- C:0.03WA 118
    rs1410931561,2
    --5394816(+) CTTCCG/TGAACA 1 -- int10--------
    rs18800221,2
    C,F,H--5394832(-) TTTATT/GGGGAA 1 -- int117Minor allele frequency- G:0.06MN NS EA NA WA CSA 735
    rs72361311,2
    C,H--5394904(+) CTTTTT/GTTGAA 1 -- int112Minor allele frequency- G:0.09NA WA CSA EA 375
    rs3724696461,2
    F,H--5394904(+) CTTTT-/GTTGAA 1 -- int19Minor allele frequency- G:0.09NS EA 1468
    rs114007591,2
    C--5395051(+) CTTCC-/TTTGGG 1 -- int10--------
    rs1115168191,2
    C,F--5395131(+) TTCTAC/TTAAAA 1 -- int11Minor allele frequency- T:0.50CSA 2
    rs1157701971,2
    F--5395170(+) TGCCTG/ACTTGT 1 -- int11Minor allele frequency- A:0.05WA 118
    rs47983511,2
    F,H--5395272(+) agaaaC/Taccat 1 -- int16Minor allele frequency- T:0.03NS EA NA 646
    rs106455231,2
    C--5395282(+) ctcaa-/AAAC  
            
    aaaca
    1 -- int10--------
    rs716701491,2
    C--5395283(+) TCAAA-/AAAC  
            
    AACAA
    1 -- int10--------
    rs1388896241,2
    C--5395326(+) GTCTC-/AAAAAAA 1 -- int10--------
    rs107160971,2
    C--5395382(+) TACTTA/-AAAAA 1 -- int1 trp31Minor allele frequency- -:0.00NA 2
    rs99638871,2
    C--5395457(+) ggtgcA/Gatggc 1 -- int10--------
    rs1122501881,2
    C,F--5395516(+) TTAAGA/GCCTGG 1 -- int12Minor allele frequency- G:0.04CSA WA 120
    rs19681801,2
    C,F,H--5395539(-) gttttG/Cccact 1 -- int117Minor allele frequency- C:0.04NS EA NA WA CSA 774
    rs1414205521,2
    --5395689(+) GCGGAA/GGCTAC 1 -- int10--------
    rs1844958921,2
    --5395774(+) AAAACA/GTAATA 1 -- int10--------
    rs1508392901,2
    C--5395780(+) TAATAC/TAAATC 1 -- int10--------
    rs1880766671,2
    --5395782(+) ATATAA/CATCAA 1 -- int10--------
    rs1813607121,2
    --5395815(+) AAAATC/TAAATA 1 -- int10--------
    rs1854452221,2
    --5395861(+) ATCTCA/CGAGTA 1 -- int10--------
    rs1382155051,2
    C--5396091(+) TACTCA/CCTCCT 1 -- int10--------
    rs1899482281,2
    --5396106(+) CACTTC/TAACCA 1 -- int10--------
    rs1495999201,2
    C--5396236(+) GAAGGC/TGGGTA 1 -- int10--------
    rs1390781581,2
    C,F--5396288(+) TTCAGG/AGACAA 2 /P /S mis12Minor allele frequency- A:0.00NA EU 5875
    rs1472957601,2
    C,F--5396352(+) GTGGAA/CAGCCT 2 L syn12Minor allele frequency- C:0.01NA EU 5875
    rs1393179111,2
    C,F--5396374(+) CATTCG/ATTACG 2 /T /M mis11Minor allele frequency- A:0.00NA 4552
    rs1409410171,2
    C--5396378(+) CGTTAC/G/TGGCAG 3 I L V mis11EU 1323
    rs756437231,2
    C--5396392(+) CTGTTG/TAGGTT 2 * S stg10--------
    rs1817343091,2
    --5396556(+) TAATGC/TCAATC 1 -- int10--------
    rs1868604121,2
    --5396648(+) CCATGA/GAAAGG 1 -- int10--------
    rs557173521,2
    C,F--5396654(+) AAAGGA/GAACAG 1 -- int12Minor allele frequency- G:0.04NA EA 240
    rs19746941,2
    C,F,O,H--5396688(-) GGTATT/CCATGT 1 -- int121Minor allele frequency- C:0.09MN NS EA NA WA CSA 1119
    rs1459692681,2
    C--5396852(+) CAGTT-/TCATGC 1 -- int10--------
    rs286264481,2
    C,F--5396869(+) CAATAC/TGAGCC 1 -- int13Minor allele frequency- T:0.15CSA WA 124
    rs1145186221,2
    C,F--5397038(+) AGTAAA/GGGACA 1 -- int11Minor allele frequency- G:0.08WA 118
    rs1920201091,2
    C--5397128(+) TGAACA/GCTGTA 1 -- int10--------
    rs2003887851,2
    C--5397171(+) TGTTGC/TTGTTG 1 -- int10--------
    rs1839623671,2
    C--5397300(+) ATTGAA/CGAACT 1 -- int10--------
    rs1448655581,2
    C--5397315(+) TCTAC-/ATAGAC 1 -- int10--------
    rs1448898831,2
    --5397338(+) GGCACA/GTGTAC 1 -- int10--------
    rs28746861,2
    C,F,O,A,H--5397343(+) GTGTAT/CGCTCT 1 -- int116Minor allele frequency- C:0.32NS EA NA WA 930
    rs1869680161,2
    --5397385(+) AAACCA/GCAACA 1 -- int10--------
    rs1898077271,2
    --5397402(+) CACACA/GATTAG 1 -- int10--------
    rs23220931,2
    C,F,A,H--5397415(+) AGCTTG/AATAAG 1 -- int126Minor allele frequency- A:0.11NS EA NA WA CSA 2357
    rs1475381881,2
    --5397425(+) GAATAC/TAGGAA 1 -- int10--------
    rs80863771,2
    C,F,H--5397470(+) TTGGCA/GTTTTG 1 -- int16Minor allele frequency- G:0.02NS EA CSA 418
    rs1162022961,2
    C,F--5397592(+) TGTAAG/AAATAG 1 -- int11Minor allele frequency- A:0.03WA 118
    rs1132368141,2
    C,F--5397635(+) AGTGTT/ATGAAT 1 -- int12Minor allele frequency- A:0.50CSA 6
    rs1127440971,2
    C,F--5397724(+) ACACAG/AAGGTT 1 -- int13Minor allele frequency- A:0.06CSA WA 123
    rs2016012801,2
    --5397778(+) TTCTT-/TCTTTTT 1 -- int10--------
    rs286258061,2
    C--5397781(+) TCTTTC/TTTTTT 1 -- int1 trp30--------
    rs1474046461,2
    C--5397781(+) CTTTT-/CTTTTT 1 -- int10--------
    rs1138717511,2
    F--5397795(+) TTTTTG/TGAGAC 1 -- int11Minor allele frequency- T:0.50CSA 2
    rs1871781951,2
    --5397875(+) TGGGTG/TCAAGC 1 -- int10--------
    rs1916756591,2
    --5398061(+) GGAGTA/GAGCCA 1 -- int10--------
    rs1834913131,2
    --5398070(+) CACCAC/TGCCCA 1 -- int10--------
    rs1511536761,2
    C--5398085(+) ATTTTA/CTTGAA 1 -- int10--------
    rs99655011,2
    C,F,H--5398319(+) CTGCTG/TTCTGA 1 -- int128Minor allele frequency- T:0.13NA NS EA WA CSA 2500
    rs126053701,2
    C,F,A,H--5398502(+) AAAATA/CATTTA 1 -- int136Minor allele frequency- C:0.24NA NS EA WA CSA 3276
    rs773341491,2
    C,F--5398530(+) TCTTCT/GTATTT 1 -- int11Minor allele frequency- G:0.09WA 118
    rs1447774181,2
    C--5398592(+) GCTGG-/CCCACC 1 -- int10--------
    rs1149230001,2
    F--5398628(+) TATCAC/TGGGGC 1 -- int11Minor allele frequency- T:0.03WA 118
    rs126041811,2
    C,F,A,H--5398713(+) CTTCAC/TTTTAT 1 -- int122Minor allele frequency- T:0.35NA NS EA WA 1792
    rs1886049951,2
    --5398742(+) ACCTAC/TGTTAT 1 -- int10--------
    rs1931304641,2
    --5398743(+) CCTATA/GTTATA 1 -- int10--------
    rs1440591881,2
    --5398860(+) TTCCAA/GTGAAA 1 -- int10--------
    rs72406961,2
    C,F,H--5399184(+) ATACCC/AAACTA 1 -- int110Minor allele frequency- A:0.15NA WA CSA EA 372