AutismKB 2.0

Annotation Detail for CACNA1S


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Basic Information Top
Gene Symbol:CACNA1S ( CACNL1A3,CCHL1A3,Cav1.1,HOKPP,HOKPP1,MHS5,TTPP1,hypoPP )
Gene Full Name: calcium channel, voltage-dependent, L type, alpha 1S subunit
Band: 1q32.1
Quick LinksEntrez ID:779; OMIM: 114208; Uniprot ID:CAC1S_HUMAN; ENSEMBL ID: ENSG00000081248; HGNC ID: 1397
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04270Vascular smooth muscle contraction
hsa04912GnRH signaling pathway
hsa04010MAPK signaling pathway
hsa04020Calcium signaling pathway
hsa05410Hypertrophic cardiomyopathy (HCM)
hsa05412Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05414Dilated cardiomyopathy
hsa05010Alzheimer's disease
hsa04260Cardiac muscle contraction
Pathway IDPathway Name
Axon guidance
No data
Pathway IDPathway Name
P00003Alzheimer disease-amyloid secretase pathway
P04378Beta2 adrenergic receptor signaling pathway
P04391Oxytocin receptor mediated signaling pathway
P04377Beta1 adrenergic receptor signaling pathway
P00044Nicotinic acetylcholine receptor signaling pathway
P043745HT2 type receptor mediated signaling pathway
No data
Related Diseases/Disorders Top
Desease IDDesease Name
Inherited disorders of ion transport and metabolism
H00215Periodic paralysis
Genetic disorders
Desease IDDesease Name
1750Endocrine system disease
2134Amyotrophic lateral sclerosis
No data
No data
Desease Name
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia susceptibility 5
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of CACNA1S mRNAaffects expression 17555576
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of CACNA1S mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of CACNA1S mRNAaffects cotreatment|increases expression 17942748
D013629 Tamoxifen Tamoxifen affects the expression of CACNA1S mRNAaffects expression 17555576
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of CACNA1S mRNAaffects cotreatment|increases expression 17942748
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 5.4114745880
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.5915322242 11752688 14514962
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.8117505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8914692618
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 4.1216835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.3911748828
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 4.1211256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.9115885639
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.5312125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.6615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 3.0215746008
MESH:D001943 Breast Neoplasms Tamoxifen 1.9219103187 20390343 16202921 17261762 19142967 11161223 18351453 19084267 18629630 19221464 19244106 20135344 18855134 19200415 16273361 17893378 19410462 20859285 21138602 19189212 19289846 18815881 19059307 19011961 18425577 19115204 16873071 20544844 17242785 15565566 19066611 19189210 16818667 19155303 17049068 15668708 18997820 21152245 18821012 19288272 19487384 20065188 17440819 18984771 20005174
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9220435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.1616835633
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 5.1619066611
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 1.8616924424
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 4.0617572228
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5818850075 16120746 18670907
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.5816835633
MESH:D002779 Cholestasis Ethinyl Estradiol 3.2017681005 17333356 11677210 15861022 16105132 17110522 16919318
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2515668235 8697196 16354765 15340226 12621046
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.4817141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2720055451 10048152 15322242
MESH:D003711 Demyelinating Diseases Tamoxifen 5.0219031437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7417107852
MESH:D003928 Diabetic Nephropathies Tamoxifen 3.8919279558
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.6220420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.0911462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.8512711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.7718230668 15322242 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 10.9612538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 10.9619031437
MESH:D016889 Endometrial Neoplasms Tamoxifen 3.3116202921 17893378 19155303 20544844
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.479294722 10568697
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.3411564622
MESH:D005234 Fatty Liver Ethinyl Estradiol 9.3415345470
MESH:D005234 Fatty Liver Tamoxifen 9.3419224547 14986274
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.4716709447
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 4.1111858732
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 5.2714745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.9219069698
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.6020067830
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.4610696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.5310048152 11294989
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.8211000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.5416120746 15340226 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.9116354765 15340226 16959395 18606429 8697196
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0318850075 18670907
MESH:D020514 Hypokalemic Periodic Paralysis marker/mechanism 19822448
OMIM:170400 HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1 marker/mechanism
MESH:D007021 Hypospadias Ethinyl Estradiol 4.4616569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.9912013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.7617937319
MESH:D007249 Inflammation Tamoxifen 5.5519457130
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.5512200463 12878042
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.8216580747
MESH:D007680 Kidney Neoplasms Tamoxifen 3.4318625569
MESH:D008064 Lipidoses Tamoxifen 3.4617567588 15342952
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 2.3818564211
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.3812878042
MESH:D008113 Liver Neoplasms Tamoxifen 4.8416684651
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.8416984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.3512151625
MESH:D008175 Lung Neoplasms Tamoxifen 2.3418625569
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.3411884234 19555203
MESH:D008305 Malignant Hyperthermia marker/mechanism
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 4.5019428831
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 2.8814580682 19196722 11731420 19196723 16827153
MESH:D020149 Manganese Poisoning Tamoxifen 5.4119453300
MESH:D008545 Melanoma Tamoxifen 1.9219393235 12393984
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.9215990972
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3812213967
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.6819393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.6219410462
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.8719189210 19200415 19196722
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.8014600291
MESH:D016584 Panic Disorder Ethinyl Estradiol 4.2211578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 5.1212520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.1418163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.9311896295 11399792 11118676 11222880
MESH:D011471 Prostatic Neoplasms Tamoxifen 3.0815067354
MESH:D011537 Pruritus Ethinyl Estradiol 4.0516919318 15861022
MESH:D012131 Respiratory Insufficiency marker/mechanism 19822448
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.4218990726
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.2116192470
MESH:D013088 Spermatocele Ethinyl Estradiol 14.6716709447
MESH:D013088 Spermatocele Tamoxifen 14.6716709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.7819457130
MESH:D019851 Thrombophilia Ethinyl Estradiol 4.1511994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.5715669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.7712697716
OMIM:188580 THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1 marker/mechanism
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 2.4916712894 8653321 17572228
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.8814692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.4612125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 4.0215869587 14671159
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 5.1215886252
Pathway ID Pathway Name
KEGG:05010 Alzheimer's disease
KEGG:05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
REACT:18266 Axon guidance
KEGG:04020 Calcium signaling pathway
KEGG:04260 Cardiac muscle contraction
KEGG:05414 Dilated cardiomyopathy
KEGG:04912 GnRH signaling pathway
KEGG:05410 Hypertrophic cardiomyopathy (HCM)
KEGG:04010 MAPK signaling pathway
KEGG:04270 Vascular smooth muscle contraction
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA85
    • No data
    Releated disease ID Related disease Name
    PA447049Paralysis, Hyperkalemic Periodic
    PA444863Malignant Hyperthermia
    No data
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB00270 blocker Isradipine Antihypertensive Agents;Vasodilator Agents;Calcium Channel Blockers
    DB00381 antagonist Lotrel Antihypertensive Agents;Vasodilator Agents;Calcium Channel Blockers;Antianginals
    DB00393 blocker Nimodipine Antihypertensive Agents;Vasodilator Agents;Calcium Channel Blockers
    DB00401 blocker Nisoldipine Antihypertensive Agents;Vasodilator Agents;Calcium Channel Blockers
    DB00568 antagonist Cinnarizine Calcium Channel Blockers;Anti-Allergic Agents;Histamine H1 Antagonists
    DB00653 - Tetra Fungistop Anticonvulsants;Analgesics;Calcium Channel Blockers;Anesthetics;Anti-Arrhythmia Agents;Tocolytic Agents
    DB00661 blocker Tarka Vasodilator Agents;Antiarrhythmic Agents;Calcium Channel Blockers;Anti-Arrhythmia Agents
    DB01023 antagonist Lexxel Antihypertensive Agents;Vasodilator Agents;Calcium Channel Blockers;Dihydropyridines
    DB01054 antagonist Nitrendipine Antihypertensive Agents;Vasodilator Agents;Calcium Channel Blockers
    DB01115 blocker Nifedipine Vasodilator Agents;Calcium Channel Blockers;Tocolytic Agents;Dihydropyridines
    DB01388 antagonist Mibefradil Antihypertensive Agents;Vasodilator Agents;Calcium Channel Blockers
    DB06712 antagonist Nilvadipine Antihypertensive Agents;Calcium Channel Blockers
    No data
    No data
    No data

    Simple Query:


      (e.g. CHD8)

    Syndromic Genes

    Non-syndromic Genes

    AutismKB Statistics

    • Studies: 1,036
    • Genes: 1,379
    • CNVs/SVs: 5,420
    • SNVs/Indels: 11,669
    • de novo Mutations: 5,669
    • Mosaics: 789
    • Linkage Regions: 172
    • Paper Collected: 6/30/2018
    • Last Update: 8/26/2018


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