GeneID = 778 is in our transporter list.
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  • Gene general annotation
  • Data comes from NCBI-Gene
    Entrez GeneID 778
    Gene Symbol CACNA1F
    Aliases AIED,COD3,COD4,CORDX,CORDX3,CSNB2,CSNB2A,CSNBX2,Cav1.4,JM8,JMC8,OA2
    Description calcium channel, voltage-dependent, L type, alpha 1F subunit
    Organism Homo sapiens
    Location Xp11.23
    Genomic position NC_000023.10 49061522-49089832 minus strand (Reference GRCh37.p5 Primary Assembly) U E
    UniProt Accession O60840; O95226
    Mammalian Homolog
    (GeneID)
    mouse : 54652
    rat : 114493
  • KOBAS Annotation (Pathway/Disease Annotation)
  • PharmacoGenetics Related Genes/Drugs/Diseases
  • TaxicoGenetics Related Chemicals/Diseases/Pathways
  • Known Drugs in DrugBank
  • Data comes from DrugBank
    DrugBank DrugIDDrug NameRelated UniProt AccessionGene TypeAction
    DB00393 Nimodipine O60840 target inhibitor
    DB00568 Cinnarizine O60840 target inhibitor
    DB00661 Verapamil O60840 target inhibitor
    DB01388 Mibefradil O60840 target inhibitor
  • Transporter Substrate Information
  • Data comes from (unpublished integrated data)
    KEGG Compound ID:
    C00076
  • 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
    rs2071315 X 49063046 CEU G / T 101 / 0 FET lg p = -0.27

    max diff AF = 0.011
    G/G / G/T / T/T 65 / 0 / 0 exonic: CACNA1F

    nonsynonymous SNV: CACNA1F, NM_001256790, exon46, c.C5236A, p.Q1746K; CACNA1F, NM_001256789, exon46, c.C5398A, p.Q1800K; CACNA1F, NM_005183, exon46, c.C5431A, p.Q1811K

    SIFT score = 0.01

    PolyPhen2 score = 0.92
    CHB 68 / 0 45 / 0 / 0
    JPT 66 / 0 44 / 0 / 0
    MEX 86 / 1 56 / 1 / 0
    YRI 98 / 0 63 / 0 / 0
    1KG heterozygosity = 0.00988, with SE = 0.06960
    rs2071316 X 49069366 CEU C / T 65 / 36 FET lg p = -4.52

    max diff AF = 0.295
    C/C / C/T / T/T 32 / 18 / 15 intronic: CACNA1F
    CHB 25 / 43 13 / 7 / 25
    JPT 23 / 43 13 / 5 / 26
    YRI 60 / 38 32 / 13 / 18
    1KG T (minor)775 in 1654 = 0.46856 heterozygosity = 0.49802, with SE = 0.03138
    rs2071317 X 49070813 CEU G / A 65 / 36 FET lg p = -4.25

    max diff AF = 0.280
    G/G / A/G / A/A 32 / 18 / 15 intronic: CACNA1F
    CHB 25 / 43 13 / 7 / 25
    JPT 24 / 42 13 / 6 / 25
    YRI 60 / 38 32 / 13 / 18
    1KG A (minor)774 in 1654 = 0.46796 heterozygosity = 0.49795, with SE = 0.03198
    rs2075866 X 49071964 CEU G / A 36 / 65 FET lg p = -20.48

    max diff AF = 0.510
    G/G / A/G / A/A 15 / 18 / 32 exonic: CACNA1F

    synonymous SNV: CACNA1F, NM_001256790, exon28, c.T3114T, p.H1038H; CACNA1F, NM_001256789, exon28, c.T3276T, p.H1092H; CACNA1F, NM_005183, exon28, c.T3309T, p.H1103H
    CHB 43 / 25 25 / 7 / 13
    JPT 42 / 24 25 / 6 / 13
    LWK 137 / 25 81 / 9 / 16
    YRI 182 / 28 114 / 12 / 15
    1KG A (minor)743 in 1654 = 0.44921 heterozygosity = 0.49484, with SE = 0.05052
    rs926175 X 49074801 CEU G / A 64 / 34 FET lg p = -4.59

    max diff AF = 0.289
    G/G / A/G / A/A 32 / 16 / 15 intronic: CACNA1F
    CHB 25 / 43 13 / 7 / 25
    JPT 24 / 42 13 / 6 / 25
    YRI 60 / 36 32 / 13 / 17
    1KG A (minor)742 in 1654 = 0.44861 heterozygosity = 0.49472, with SE = 0.05112
    Limited to 5 records in this page. Click here to view more.
  • Genomic Variation --- CNV
  • 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
  • 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 778
    Gene Symbol and
    Genome Browser
    CACNA1F
    UCSC Ensembl
    mRNA NM_001256789; NM_001256790; NM_005183
    protein NP_001243718; NP_001243719; NP_005174
    Ensembl ENST00000376265; ENSP00000365441; ENSG00000102001
    HPRD 02119
    UniProt Accession O60840; O95226
    GeneCards GC0XM049061
    UniGene Hs.632799
    HomoloGene 74542
    EMBL AJ006216; AJ224874; AF201304; AF196779; AF235097; U93305
    IPI IPI00465135; IPI00925706
    PRIDE O60840
    STRING O60840
    TCDB 1.A.1.11.11
    OMIM 300071; 300110; 300476; 300600
    PharmGKB PA26010
    Reactome REACT_111045