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ASPM Gene

protein-coding   GIFtS: 56
GCID: GC01M197053

Asp (Abnormal Spindle) Homolog, Microcephaly Associated...

(Previous names: microcephaly, primary autosomal recessive 5, asp (abnormal...)
(Previous symbol: MCPH5)
  See 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
Asp (Abnormal Spindle) Homolog, Microcephaly Associated
(Drosophila)1 2
     Calmbp12
MCPH51 2 3 5     Abnormal Spindle-Like Microcephaly-Associated Protein2
Asp (Abnormal Spindle)-Like, Microcephaly Associated (Drosophila)1     Abnormal Spindle Protein Homolog3
Microcephaly, Primary Autosomal Recessive 51     Asp Homolog3
ASP2     

External Ids:    HGNC: 190481   Entrez Gene: 2592662   Ensembl: ENSG000000662797   OMIM: 6054815   UniProtKB: Q8IZT63   

Export aliases for ASPM gene to outside databases

Previous GC identifers: GC01U990488 GC01M192511 GC01M193519 GC01M194341 GC01M193785 GC01M195319 GC01M168210


(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 ASPM Gene:
This gene is the human ortholog of the Drosophila melanogaster 'abnormal spindle' gene (asp), which is essential
for normal mitotic spindle function in embryonic neuroblasts. Studies in mouse also suggest a role of this gene
in mitotic spindle regulation, with a preferential role in regulating neurogenesis. Mutations in this gene are
associated with microcephaly primary type 5. Multiple transcript variants encoding different isoforms have been
found for this gene.(provided by RefSeq, May 2011)

GeneCards Summary for ASPM Gene:
ASPM (asp (abnormal spindle) homolog, microcephaly associated (Drosophila)) is a protein-coding gene. Diseases associated with ASPM include microcephaly, and primary autosomal recessive microcephaly type 5. GO annotations related to this gene include calmodulin binding.

UniProtKB/Swiss-Prot: ASPM_HUMAN, Q8IZT6
Function: Probable role in mitotic spindle regulation and coordination of mitotic processes. May have a
preferential role in regulating neurogenesis

Gene Wiki entry for ASPM 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:
NC_000001.11  NC_018912.2  NT_004487.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the ASPM gene promoter:
         AML1a   E2F-1   E2F   FOXD3   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   POU3F2   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidASPM promoter sequence
   Search Chromatin IP Primers for ASPM

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


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

Entrez Gene cytogenetic band: 1q31   Ensembl cytogenetic band:  1q31.3   HGNC cytogenetic band: 1q31

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M197053:  view genomic region     (about GC identifiers)

Start:
197,053,257 bp from pter      End:
197,115,824 bp from pter
Size:
62,568 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., 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: ASPM_HUMAN, Q8IZT6 (See protein sequence)
Recommended Name: Abnormal spindle-like microcephaly-associated protein  
Size: 3477 amino acids; 409800 Da
Sequence caution: Sequence=AAH34607.1; Type=Erroneous initiation; Sequence=BAA91676.1; Type=Erroneous initiation;
Secondary accessions: Q4G1H1 Q5VYL3 Q86UX4 Q8IUL2 Q8IZJ7 Q8IZJ8 Q8IZJ9 Q8N4D1 Q9NVS1 Q9NVT6
Alternative splicing: 2 isoforms:  Q8IZT6-1   Q8IZT6-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ASPM: NX_Q8IZT6

Explore proteomics data for ASPM at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys177, Lys1349, Lys1519, Lys1537, Lys1830, Lys1843, Lys1875, Lys1903, Lys2002, Lys2053,
                                 Lys2171, Lys2358, Lys3061, Lys3169, Lys3404, Lys3446
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (2 alternative transcripts): 
    NP_001193775.1  NP_060606.3  

    ENSEMBL proteins: 
     ENSP00000356379   ENSP00000356378   ENSP00000294732  

    ASPM Human Recombinant Protein Products:

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    ASPM Antibody Products:

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    Novus Biologicals ASPM Antibodies
    Search for Antibodies for ASPM at Abcam
    Cloud-Clone Corp. Antibodies for ASPM
    Search ThermoFisher Antibodies for ASPM
    LSBio Antibodies in human, mouse, rat for ASPM

    ASPM Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ASPM
    Cloud-Clone Corp. CLIAs for ASPM


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR001715 CH-domain
     IPR027417 P-loop_NTPase
     IPR000048 IQ_motif_EF-hand-BS
     IPR022613 CAMSAP_CH
     IPR016024 ARM-type_fold

    Graphical View of Domain Structure for InterPro Entry Q8IZT6

    ProtoNet protein and cluster: Q8IZT6

    2 Blocks protein domains:
    IPB000048 IQ calmodulin-binding region
    IPB001715 Calponin-like actin-binding


    UniProtKB/Swiss-Prot: ASPM_HUMAN, Q8IZT6
    Similarity: Contains 2 CH (calponin-homology) domains
    Similarity: Contains 39 IQ domains


    ASPM for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ASPM_HUMAN, Q8IZT6
    Function: Probable role in mitotic spindle regulation and coordination of mitotic processes. May have a
    preferential role in regulating neurogenesis

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005488binding ----
    GO:0005515protein binding ----
    GO:0005516calmodulin binding IEA--
         
    ASPM for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ASPM:
     Synthetic lethal with gemcitab 

         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Aspm):
     craniofacial  endocrine/exocrine gland  growth/size/body  nervous system  reproductive system 

    ASPM for phenotypes           About GeneDecksing

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

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

    miRNA
    Products:
        
    miRTarBase miRNAs that target ASPM:
    hsa-mir-192-5p (MIRT026460), hsa-mir-215-5p (MIRT024686), hsa-mir-193b-3p (MIRT016478), hsa-mir-26b-5p (MIRT029549), hsa-let-7a-5p (MIRT052495)

    Block miRNA regulation of human, mouse, rat ASPM using miScript Target Protectors
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    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ASPM

    Gene Editing
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ASPM (NM_018136)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ASPM
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ASPM

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


    (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
    ASPM_HUMAN, Q8IZT6: Cytoplasm (By similarity). Cytoplasm, cytoskeleton, spindle. Nucleus (By similarity).
    Note=The nuclear-cytoplasmic distribution could be regulated by the availability of calmodulin (By similarity).
    Localizes to spindle poles during mitosis
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol3
    nucleus2
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000922spindle pole IEA--
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IEA--
    GO:0030496midbody IEA--

    ASPM for ontologies           About GeneDecksing


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

        GeneGlobe Interaction Network for ASPM

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

    Selected Interacting proteins for ASPM (Q8IZT63 ENSP000003563794) via UniProtKB, MINT, STRING, and/or I2D (see all 59)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    TP53P046373, ENSP000002693054I2D: score=1 STRING: ENSP00000269305
    TP63Q9H3D43, ENSP000002647314I2D: score=1 STRING: ENSP00000264731
    PLK1P533503, ENSP000003000934I2D: score=1 STRING: ENSP00000300093
    TP73O153503, ENSP000003675454I2D: score=1 STRING: ENSP00000367545
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001764neuron migration IEA--
    GO:0002052positive regulation of neuroblast proliferation IEA--
    GO:0007067mitosis IEA--
    GO:0007283spermatogenesis IEA--
    GO:0007420brain development ----

    ASPM for ontologies           About GeneDecksing



    (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 ASPM



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ASPM gene (2 alternative transcripts): 
    NM_001206846.1  NM_018136.4  

    Unigene Cluster for ASPM:

    Asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
    Hs.121028  [show with all ESTs]
    Unigene Representative Sequence: NM_018136
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367409(uc001gtu.3 uc001gtw.4) ENST00000367408 ENST00000294732(uc001gtv.3)

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat ASPM using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate ASPM
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for ASPM
    Predesigned siRNA for gene silencing in human, mouse, rat ASPM
    Clone
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    OriGene clones in human, mouse for ASPM (see all 5)
    OriGene ORF clones in mouse, rat for ASPM
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ASPM (NM_018136)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ASPM
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ASPM
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for ASPM
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ASPM
      QuantiTect SYBR Green Assays in human, mouse, rat ASPM
      QuantiFast Probe-based Assays in human, mouse, rat ASPM

    Additional mRNA sequence: 

    AF509326.1 AK001379.1 AK001380.1 AK001411.1 AK095892.1 AK125107.1 AK226178.1 AY099890.1 
    AY099891.1 AY099892.1 AY099893.1 AY101201.1 AY367065.1 AY971955.1 AY971956.1 AY971957.1 
    BC015396.2 BC034607.1 BC040439.1 BX648804.1 

    7 DOTS entries:

    DT.211122  DT.100783368  DT.427161  DT.100783370  DT.40219070  DT.102828077  DT.121330049 

    Selected AceView cDNA sequences (see all 130):

    AY101201 AF509326 BC040439 AI248866 AY099892 AI016489 BG035713 AA287875 
    AY099893 BM698701 AA287540 AA642440 BC034607 NM_018136 AU141032 CB123979 
    AY367065 AY099890 AY099891 AI214278 AA969404 AI126836 AA827767 AI085761 

    GeneLoc Exon Structure


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


    ASPM 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 9 entries
             Thalamus
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Secondary Oocyte Antral Follicle
     
     Gonad (Reproductive System)    fully expand to see all 2 entries
             Primordial Germ Cells Primitive Gonad
     
     Epithelial Cells
             Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
     
     Blood (Hematopoietic System)
             pre Conventional Dendritic Cells Peripheral Blood
    ASPM Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ASPM Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.121028
        Custom PCR Arrays for ASPM
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASPM

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for ASPM gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aspm1 , 5 asp (abnormal spindle)-like, microcephaly associated more1, 5 74.57(n)1
    66.16(a)1
      1 (61.45 cM)5
    123161  NM_009791.41  NP_033921.31 
     1394547735 
    chicken
    (Gallus gallus)
    Aves ASPM1 asp (abnormal spindle) homolog, microcephaly associated more 61.32(n)
    53.97(a)
      424354  XM_422197.4  XP_422197.4 
    lizard
    (Anolis carolinensis)
    Reptilia ASPM6
    asp (abnormal spindle) homolog, microcephaly assoc...
    47(a)
    1 ↔ 1
    GL343432.1(254266-288658)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.77782 Xenopus laevis transcribed sequence with weak similarity more 74.25(n)    CF289446.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.194632 Transcribed sequence with weak similarity to protein more 72.06(n)    BM141409.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta asp6
    abnormal spindle
    25(a)
    1 ↔ 1
    3R(20579625-20586235)
    worm
    (Caenorhabditis elegans)
    Secernentea aspm-16
    Protein ASPM-1 (aspm-1) mRNA, complete cds
    18(a)
    1 ↔ 1
    I(9221826-9226386) WBGene00008107


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

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

    (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)
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    Selected SNPs for ASPM (see all 1692)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs75288271,2,,4
    C,F,Hnon-pathogenic1203600276(+) GGTAAT/CGAAGT 4 /H /R mis112Minor allele frequency- C:0.01NS EA NA WA 5500
    rs360043061,2,,4
    C,Fnon-pathogenic1203601978(+) CAGCCA/CGGTAA 4 R L mis15Minor allele frequency- C:0.04NA EU 5905
    rs37622711,2,,4
    C,F,Hnon-pathogenic1203611335(-) TCCACC/ATTAGA 3 /I /L mis1 int133Minor allele frequency- A:0.26EA NS MN NA WA EU 11142
    rs121383361,2,,4
    C,F,Hnon-pathogenic1203611414(+) TGAATC/GTGTTT 3 H Q mis1 int114Minor allele frequency- G:0.06NS EA NA EU 6770
    rs413109271,2,,4
    C,Fnon-pathogenic1203611590(+) GGTGCT/CTTGTA 3 /S /G mis1 int19Minor allele frequency- C:0.31NA WA EA EU 6117
    rs413083651,2
    C,Fnon-pathogenic1203611600(+) ATTACA/G/TATAGA 3 I syn1 int19NA WA EA EU 6115
    rs109221621,2
    C,F,A,Hnon-pathogenic1203611669(+) ATAACC/TACAGC 3 V syn1 int118Minor allele frequency- T:0.17NS EA NA EU 7987
    rs14126401,2
    C,F,O,A,Hnon-pathogenic1203611708(+) CTTTGC/TAATTT 3 L syn1 int1 ese325Minor allele frequency- T:0.20MN NS EA NA WA CSA EU 7822
    rs9642011,2,,4
    C,F,A,Hnon-pathogenic1203611794(+) TCTGTG/ACATCC 3 /H /Y mis1 int1 ese323Minor allele frequency- A:0.00MN NS EA NA WA CSA EU 7456
    rs413109251,2
    C,Fnon-pathogenic1203613313(+) TTCTTT/CTGTTG 3 /Q syn1 int18Minor allele frequency- C:0.32NA EA EU 6059

    HapMap Linkage Disequilibrium report for ASPM (197053257 - 197115824 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for ASPM:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv873068CNV Loss21882294
    nsv873069CNV Loss21882294
    dgv514n71CNV Loss21882294
    dgv515n71CNV Loss21882294
    nsv826053CNV Loss20364138
    nsv528460CNV Gain19592680
    nsv873070CNV Gain+Loss21882294
    essv19099CNV CNV17122850
    esv743CNV CNV17122850
    essv8557CNV CNV17122850

    Human Gene Mutation Database (HGMD): ASPM
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ASPM
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605481   
    OMIM disorders: 608716  
    UniProtKB/Swiss-Prot: ASPM_HUMAN, Q8IZT6
  • Microcephaly 5, primary, autosomal recessive (MCPH5) [MIM:608716]: A disease defined as a head
    circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and
    the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is
    relatively well preserved, with no major abnormality in cortical architecture. Affected individuals are mentally
    retarded. Primary microcephaly is further defined by the absence of other syndromic features or significant
    neurological deficits due to degenerative brain disorder. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • Selected diseases for ASPM (see all 25):    
    About MalaCards
    microcephaly    primary autosomal recessive microcephaly type 5    microcephaly, primary autosomal recessive    primary autosomal recessive microcephalies and seckel syndrome spectrum disorders
    primary autosomal recessive microcephaly type 1    oculocerebrorenal syndrome    seckel syndrome    age related macular degeneration
    angelman syndrome    intellectual disability    medulloblastoma    malignant glioma
    mental retardation    hepatitis c virus    hepatitis c    cerebritis
    schizophrenia    hepatocellular carcinoma    hepatitis    retinitis

    3 diseases from the University of Copenhagen DISEASES database for ASPM:
    Microcephaly     Intellectual disability     Oculocerebrorenal syndrome

    ASPM for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for ASPM gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    microcephaly, primary 98.6 22 16141009 (3), 19808985 (3), 14997185 (2), 19770472 (2) (see all 14)
    microcephaly 85.9 17 18331833 (4), 15972725 (2), 16687438 (1), 18636190 (1) (see all 10)
    mental retardation 59.8 2 17849285 (1), 14574646 (1)

    GeneTests: ASPM
    GeneReviews: ASPM
    Genetic Association Database (GAD): ASPM
    Human Genome Epidemiology (HuGE) Navigator: ASPM (8 documents)

    Export disorders for ASPM gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ASPM gene, integrated from 10 sources (see all 89):
    (articles sorted by number of sources associating them with ASPM)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A common SNP of MCPH1 is associated with cranial volume variation in Chinese population. (PubMed id 18204051)1, 2, 4 Wang J.-K.... Su B. (Hum. Mol. Genet. 2008)
    2. The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein. (PubMed id 15972725)1, 2, 9 Kouprina N.... Larionov V. (Hum. Mol. Genet. 2005)
    3. ASPM is a major determinant of cerebral cortical size. (PubMed id 12355089)1, 2, 9 Bond J.... Woods C.G. (Nat. Genet. 2002)
    4. Protein-truncating mutations in ASPM cause variable reduction in brain size. (PubMed id 14574646)1, 2, 9 Bond J.... Woods C.G. (Am. J. Hum. Genet. 2003)
    5. No evidence that polymorphisms of brain regulator genes Microcephalin and ASPM are associated with general mental ability, head circumference or altruism. (PubMed id 17251122)1, 4, 9 Rushton J.P....Bons T.A. (Biol. Lett. 2007)
    6. Sex-dependent association of common variants of microcephaly genes with brain structure. (PubMed id 20080800)1, 4, 9 Rimol L.M....Andreassen O.A. (Proc. Natl. Acad. Sci. U.S.A. 2010)
    7. Centrosome-related genes, genetic variation, and risk of breast cancer. (PubMed id 20508983)1, 4 Olson J.E....Couch F.J. (Breast Cancer Res. Treat. 2011)
    8. Polymorphisms in genes involved in neurodevelopment may be associated with altered brain morphology in schizophrenia: preliminary evidence. (PubMed id 19054571)1, 4 GregA^rio S.P....Dias-Neto E. (Psychiatry Res 2009)
    9. The NEI/NCBI dbGAP database: genotypes and haplotypes that may specifically predispose to risk of neovascular age-related macular degeneration. (PubMed id 18541031)1, 4 Zhang H....Deangelis M.M. (BMC Med. Genet. 2008)
    10. Investigation of MCPH1 G37995C and ASPM A44871G polymorphisms and brain size in a healthy cohort. (PubMed id 17566767)1, 4 Dobson-Stone C....Schofield P.R. (Neuroimage 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 259266 HGNC: 19048 AceView: ASPM Ensembl:ENSG00000066279 euGenes: HUgn259266
    ECgene: ASPM H-InvDB: ASPM

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ASPM Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ASPM Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ASPM[genesymbol]

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ASPM gene:
    Search GeneIP for patents involving ASPM

    GeneCards and IP:
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