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    Data summary

    • Publications : 991
    • Phenotypes : 178
    • Genes : 207
    • Mutations : 4571
    • SNVs : 3402
    • InDels : 1169
    • Last Update : 26/10/2017

    Detailed information for CACNA1F






    Basic information
    Official symbolCACNA1F
    Official full namecalcium channel, voltage-dependent, L type, alpha 1F subunit
    LocationXp11.23
    Gene typeprotein-coding
    SynonymsAIED|COD3|COD4|CORDX|CORDX3|CSNB2|CSNB2A|CSNBX2|Cav1.4|JM8|JMC8|OA2
    Quick linksEntrez ID:778; HGNC:1393; MIM:300110; Ensembl:ENSG00000102001; HPRD:02119; Vega:OTTHUMG00000022703
    GO related
    GO term accessionGO term nameNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-Value
    GO:0050953sensory perception of light stimulus2051002.5539.218.72e-1461.02e-142
    GO:0007601visual perception204992.5439.017.39e-1444.34e-141
    GO:0007600sensory perception4951036.1616.734.54e-1051.78e-102
    GO:0050877neurological system process123710615.396.891.82e-665.34e-64
    GO:0003008system process169510821.095.121.12e-542.63e-52
    GO:0060041retina development in camera-type eye105311.3123.731.13e-341.90e-32
    GO:0009583detection of light stimulus47240.5841.054.99e-347.32e-32
    GO:0007423sensory organ development436485.428.853.27e-323.84e-30
    GO:0009582detection of abiotic stimulus83271.0326.151.40e-311.49e-29
    GO:0001654eye development276393.4311.363.01e-302.94e-28
    GO:0009581detection of external stimulus100271.2421.704.42e-293.99e-27
    GO:0044707single-multicellular organism process561214369.812.059.21e-297.72e-27
    GO:0032501multicellular organismal process564414370.212.041.83e-281.43e-26
    GO:0009584detection of visible light22160.2758.461.18e-267.70e-25
    GO:0043010camera-type eye development237332.9511.192.13e-251.25e-23
    GO:0009416response to light stimulus203292.5311.481.06e-225.41e-21
    GO:0051606detection of stimulus202272.5110.742.10e-209.13e-19
    GO:0044699single-organism process768215295.571.599.26e-193.88e-17
    GO:0009314response to radiation319293.977.313.46e-171.35e-15
    GO:0048646anatomical structure formation involved in morphogenesis15946219.833.134.32e-171.64e-15
    GO:0009653anatomical structure morphogenesis20557025.562.741.99e-167.08e-15
    GO:0030030cell projection organization9344611.623.962.85e-169.84e-15
    GO:0048856anatomical structure development403010250.132.034.19e-161.33e-14
    GO:0000902cell morphogenesis9454211.763.572.49e-137.69e-12
    GO:0032502developmental process457210456.881.833.53e-131.04e-11
    GO:0044459plasma membrane part19184120.921.961.68e-059.98e-05
    Pathway related
    TermSurceNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-value
    Arrhythmogenic right ventricular cardiomyopathy (ARVC)KEGG7430.339.010.00460.0158
    Hypertrophic cardiomyopathy (HCM)KEGG8330.378.040.00630.0168
    Dilated cardiomyopathyKEGG9030.407.410.00790.0190
    Arrhythmogenic right ventricular cardiomyopathyWIKI10830.496.180.01300.0357
    PPI related
    IDNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-value
    OMIM related
    chromosomebeginenddisorder MIM numberdisorderphene mapping keygene/locus MIM numbercytogenetic loaction
    chrX4906052249090833300600Aland Island eye disease3300110Xp11.23
    chrX4906052249090833300476"Cone-rod dystropy, X-linked, 3"3300110Xp11.23
    chrX4906052249090833300071"Night blindness, congenital stationary (incomplete), 2A, X-linked"3300110Xp11.23
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chrX4906052249090833778Cacna1fMGI:1859639MP:0003012no phenotypic analysis
    chrX4906052249090833778Cacna1fMGI:1859639MP:0003631nervous system phenotype
    chrX4906052249090833778Cacna1fMGI:1859639MP:0005391vision/eye phenotype
    Mutation spectrum

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    Gene-disease network

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