GeneID = 89832 is in our transporter list.
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  • Gene general annotation
  • Data comes from NCBI-Gene
    Entrez GeneID 89832
    Gene Symbol CHRFAM7A
    Aliases CHRNA7,CHRNA7-DR1,D-10,MGC120482,MGC120483
    Description CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion
    Organism Homo sapiens
    Location 15q13.1
    Genomic position NC_000015.9 30653442-30685863 minus strand (Reference GRCh37.p5 Primary Assembly) U E
    UniProt Accession Q494W8; Q8IUZ4
  • KOBAS Annotation (Pathway/Disease Annotation)
  • Data comes from KOBAS
    Disease IDDisease NameDisease Database
    PSYCH GAD
    memory performance GAD
    schizophrenia GAD
  • PharmacoGenetics Related Genes/Drugs/Diseases
  • TaxicoGenetics Related Chemicals/Diseases/Pathways
  • Known Drugs in DrugBank
  • Data comes from DrugBank
    DrugBank DrugIDDrug NameRelated UniProt AccessionGene TypeAction
    DB07494 (3-EXO)-3-(10,11-DIHYDRO-5H-DIBENZO[A,D][7]ANNULEN-5-YLOXY)-8,8-DIMETHYL-8-AZONIABICYCLO[3.2.1]OCTANE Q494W8 target
    DB07720 EPIBATIDINE Q494W8 target
    DB07980 (2E)-1-[(6-chloropyridin-3-yl)methyl]-N-nitroimidazolidin-2-imine Q494W8 target
    DB08620 {(2Z)-3-[(6-chloropyridin-3-yl)methyl]-1,3-thiazolidin-2-ylidene}cyanamide Q494W8 target
  • Transporter Substrate Information
  • Genomic Variation --- SNP
  • Data is integrated from dbSNP and HapMap, with functionally annotated by ANNOVAR
    Note: heterozygosity is not actually estimated from 1KG data, but is put in the same line for more compact representation.
    dbSNP rsIDchrpositionpop.alleleallele countfrequencyHapMap pop. diff.genotypegenotype count (frequency) functional annotation
    rs2604694 15 30657952 JPT A / C 225 / 1 max diff AF = 0.000 A/A / A/C / C/C 112 / 1 / 0 intronic: CHRFAM7A
    1KG heterozygosity = 0.01156, with SE = 0.07514
    rs139415030 15 30660481 1KG A (minor)66 in 2178 = 0.03030 heterozygosity = 0.05877, with SE = 0.16103 intronic: CHRFAM7A
    rs140845385 15 30663536 1KG A (minor)13 in 2178 = 0.00597 heterozygosity = 0.01187, with SE = 0.07611 intronic: CHRFAM7A
    rs139334363 15 30665181 1KG T (minor)11 in 2178 = 0.00505 heterozygosity = 0.01005, with SE = 0.07017 exonic;splicing: CHRFAM7A;CHRFAM7A

    nonsynonymous SNV: CHRFAM7A, NM_139320, exon6, c.G328A, p.G110R; CHRFAM7A, NM_148911, exon5, c.G55A, p.G19R

    SIFT score = 0.00

    PolyPhen2 score = 0.30
    rs145786150 15 30666736 1KG T (minor)1 in 2178 = 0.00046 heterozygosity = 0.00092, with SE = 0.02140 intronic: CHRFAM7A
    Limited to 5 records in this page. Click here to view more.
  • Genomic Variation --- CNV
  • Data comes from DGV
    Variation IDPositionVar. TypeGainLossTotal GL InvPubMed
    Variation_0319 chr15:30402414-30871399 U E CopyNumber 1 0 1 15273396
    Variation_104075 chr15:30490438-30794939 U E CopyNumber 0 272 272 20811451
    Variation_107730 chr15:30670050-30718100 U E CopyNumber 1 0 1 20482838
    Variation_2186 chr15:30605553-30783384 U E CopyNumber 0 6 6 16826518
    Variation_30694 chr15:30444764-30692110 U E CopyNumber 1 0 1 18304495
    Variation_3074 chr15:30605836-31177476 U E CopyNumber 0 7 7 17122850
    Variation_32014 chr15:30385330-31089674 U E CopyNumber 0 9 9 18304495
    Variation_37842 chr15:30589797-30749429 U E CopyNumber 260 0 260 18776908
    Variation_3955 chr15:30292944-31152491 U E CopyNumber 66 17122850
    Variation_4886 chr15:30579119-30798340 U E CopyNumber 1 4 5 17160897
    Variation_66758 chr15:30440575-30688192 U E CopyNumber 0 0 0 19812545
    Variation_66759 chr15:30670555-30687417 U E CopyNumber 0 1 1 19812545
    Variation_76886 chr15:30669661-30684286 U E CopyNumber 10 0 10 19900272
    Variation_76887 chr15:30669661-30698326 U E CopyNumber 2 0 2 19900272
    Variation_76888 chr15:30671328-30679502 U E CopyNumber 1 0 1 19900272
    Variation_87569 chr15:30669661-30698326 U E CopyNumber 0 10 10 19900272
    Variation_87570 chr15:30669661-30682531 U E CopyNumber 0 3 3 19900272
    Variation_87571 chr15:30669661-30687658 U E CopyNumber 0 1 1 19900272
    Variation_87572 chr15:30673756-30682531 U E CopyNumber 0 1 1 19900272
    Variation_87573 chr15:30678436-30684286 U E CopyNumber 0 1 1 19900272
    Variation_87574 chr15:30682531-30690721 U E CopyNumber 0 1 1 19900272
    Variation_9262 chr15:28969665-30979228 U E CopyNumber 1 1 17911159
  • Haplotype Information
  • Data links to UCSC Genome Browser
    ContentHyperlinkDemo example
    HapMap LD Structure (hg18)UCSC
    1000 Genomes Phase I Haplotype Clustering (hg19)UCSC
    Gene Haplotype Allele (hg19)UCSC
  • ENCODE TFBS (Transcription Factor Binding Sites) Information
  • Data comes from UCSC and ENCODE
    ChrStartEndTF nameScoreCell typesSNPs (rsIDs)
  • Epigenetic Information
  • Gene Ontology (GO)
  • Protein Sequence & Features
  • Protein Domain Information
  • Protein-Protein Interaction
  • UniGene EST Expression Data
  • Allen Brain Atlas - Mouse Brain Expression Data
  • RNA-seq Expression Data
  • External Links
  • EntrezGeneID 89832
    Gene Symbol and
    Genome Browser
    CHRFAM7A
    UCSC Ensembl
    mRNA NM_139320; NM_148911
    protein NP_647536; NP_683709
    Ensembl ENST00000299847; ENSP00000299847; ENSG00000166664
    HPRD 18704
    UniProt Accession Q494W8; Q8IUZ4
    GeneCards GC15M030653
    UniGene Hs.510853
    EMBL AK292984; BC101346; BC101347; BC101348; AC010799; AC019322; AF029838
    STRING Q494W8
    OMIM 609756
    PharmGKB PA26483