AutismKB 2.0

Annotation Detail for TCAP


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Basic Information Top
Gene Symbol:TCAP ( CMD1N,LGMD2G,T-cap,TELE,telethonin )
Gene Full Name: titin-cap (telethonin)
Band: 17q12
Quick LinksEntrez ID:8557; OMIM: 604488; Uniprot ID:TELT_HUMAN; ENSEMBL ID: ENSG00000173991; HGNC ID: 11610
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
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Pathway IDPathway Name
Muscle contraction
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Related Diseases/Disorders Top
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Desease Name
Muscular dystrophy, limb-girdle, type 2G
Cardiomyopathy, dilated, 1N
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of TCAP mRNAaffects binding|decreases expression|increases activity 19710929
D013629 Tamoxifen Tamoxifen results in decreased expression of TCAP mRNAdecreases expression 17555576
C004648 testosterone enanthate testosterone enanthate affects the expression of TCAP mRNAaffects expression 17440010
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 5.4114745880
MESH:D055371 Acute Lung Injury pirinixic acid 3.6418653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 4.2216434500
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.6319483382
MESH:D001943 Breast Neoplasms Tamoxifen 2.1617049068 16202921 19200415 18351453 21138602 15565566 19084267 20135344 16873071 17242785 15668708 16273361 17440819 20005174 20390343 20065188 21152245 11161223 19410462 18984771 17261762 18425577 19288272 18855134 20859285 19115204 16818667 19189212 19244106 19289846 19066611 19059307 19011961 19221464 19487384 19103187 19189210 20544844 19142967 18997820 19155303 18629630 18821012 18815881 17893378
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 5.1619066611
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 1.8616924424
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 4.0617572228
MESH:D002311 Cardiomyopathy, Dilated marker/mechanism
MESH:D002779 Cholestasis pirinixic acid 3.1519176532
MESH:D003711 Demyelinating Diseases Tamoxifen 5.0219031437
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5918249437
MESH:D003928 Diabetic Nephropathies Tamoxifen 3.8919279558
MESH:D004487 Edema pirinixic acid 2.9612083418
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 4.1219031437
MESH:D016889 Endometrial Neoplasms Tamoxifen 3.3117893378 16202921 20544844 19155303
MESH:D005234 Fatty Liver pirinixic acid 9.3220131406 19236843
MESH:D005234 Fatty Liver Tamoxifen 9.3219224547 14986274
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.4716709447
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 5.2714745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.9219069698
MESH:D006333 Heart Failure pirinixic acid 2.7820558911
MESH:D006529 Hepatomegaly pirinixic acid 3.6419772884 16221962 19176532 18467677
MESH:D019247 HIV Wasting Syndrome testosterone enanthate 6.6117440010
MESH:D006943 Hyperglycemia pirinixic acid 3.6320558911
MESH:D007249 Inflammation Tamoxifen 2.5519457130
MESH:D007333 Insulin Resistance pirinixic acid 2.9016306350
MESH:D007680 Kidney Neoplasms Tamoxifen 3.4318625569
MESH:D008064 Lipidoses Tamoxifen 3.4617567588 15342952
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.4215474484
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 2.4218564211
MESH:D008113 Liver Neoplasms pirinixic acid 4.8820007298 16377806 15890375
MESH:D008113 Liver Neoplasms Tamoxifen 4.8816684651
MESH:D008175 Lung Neoplasms Tamoxifen 1.7518625569
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 4.5019428831
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 2.8819196723 14580682 16827153 11731420 19196722
MESH:D020149 Manganese Poisoning Tamoxifen 5.4119453300
MESH:D008545 Melanoma Tamoxifen 1.9219393235 12393984
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.9215990972
MESH:D009135 Muscular Diseases pirinixic acid 4.1616239165
OMIM:601954 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G marker/mechanism
MESH:D009203 Myocardial Infarction pirinixic acid 2.2919151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.2916411023
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.6819393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.6219410462
MESH:D009369 Neoplasms pirinixic acid 2.1217405874
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.8719200415 19196722 19189210
MESH:D009765 Obesity pirinixic acid 1.8920558911
MESH:D011471 Prostatic Neoplasms Tamoxifen 3.0815067354
MESH:D015427 Reperfusion Injury pirinixic acid 2.5619058328
MESH:D013088 Spermatocele Tamoxifen 5.1616709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.7819457130
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 2.4917572228 8653321 16712894
Pathway ID Pathway Name
REACT:17044 Muscle contraction
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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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