AutismKB 2.0

Annotation Detail for HEATR5A


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Basic Information Top
Gene Symbol:HEATR5A ( C14orf125,DKFZp781E083,MGC72028 )
Gene Full Name: HEAT repeat containing 5A
Band: 14q12
Quick LinksEntrez ID:25938; OMIM: NA; Uniprot ID:HTR5A_HUMAN; ENSEMBL ID: ENSG00000129493; HGNC ID: 20276
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of HEATR5A mRNAdecreases expression 19150397
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of HEATR5A mRNAincreases expression 19465110
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.7315322242 14514962 11752688
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 4.2616835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.4511748828
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.5912125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.8615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 3.0515746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6620435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.2116835633
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.6018850075 16120746 18670907
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 3.0420889678
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.6316835633
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2616354765 15340226 15668235 8697196 12621046
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.5314669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2710048152 20055451 15322242
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7517107852
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.6320420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.1211462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.9212711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.9715322242 18230668 16714409
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.5310568697 9294722
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.1620426865
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.3811564622
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 4.2211858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.7120067830
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.6610696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.5511294989 10048152
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.8911000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.6515340226 16120746 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 5.128697196 16959395 15340226 16354765 18606429
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0418850075 18670907
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0612200463 12878042
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.8916580747
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2512878042
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 1.8516984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.3812151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2419555203 11884234
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.4312213967
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.8914600291
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 5.3212520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.2318163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 4.0811896295 11118676 11399792 11222880
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.5118990726
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.2316192470
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.9712697716
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.6612125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 5.3215886252
No data
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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