AutismKB 2.0

Annotation Detail for FAM40A


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Basic Information Top
Gene Symbol:FAM40A ( FLJ14743,KIAA1761,MGC148091,RP4-773N10.1 )
Gene Full Name: family with sequence similarity 40, member A
Band: 1p13.3
Quick LinksEntrez ID:85369; OMIM: NA; Uniprot ID:FA40A_HUMAN; ENSEMBL ID: ENSG00000143093; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
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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 increased expression of FAM40A mRNAaffects binding|increases activity|increases expression 19710929
D012402 Rotenone Rotenone results in decreased expression of FAM40A mRNAdecreases expression 19013527
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D055371 Acute Lung Injury pirinixic acid 3.7218653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 4.3716434500
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.7019483382
MESH:D002779 Cholestasis pirinixic acid 3.1919176532
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.6118249437
MESH:D004487 Edema pirinixic acid 3.0212083418
MESH:D005234 Fatty Liver pirinixic acid 3.3119236843 20131406
MESH:D006333 Heart Failure pirinixic acid 2.8120558911
MESH:D006529 Hepatomegaly pirinixic acid 3.7618467677 16221962 19176532 19772884
MESH:D006943 Hyperglycemia pirinixic acid 3.6920558911
MESH:D007333 Insulin Resistance pirinixic acid 2.9316306350
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008113 Liver Neoplasms pirinixic acid 1.9520007298 16377806 15890375
MESH:D009135 Muscular Diseases pirinixic acid 4.2716239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.3019151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.3316411023
MESH:D009369 Neoplasms pirinixic acid 2.1417405874
MESH:D009410 Nerve Degeneration Rotenone 4.2617356569 18619942 15790535
MESH:D009765 Obesity pirinixic acid 1.9020558911
MESH:D010300 Parkinson Disease Rotenone 3.1111535288 19232380 18619942 18191903 19114014 16140633 15451049 16412576 11445065
MESH:D020734 Parkinsonian Disorders Rotenone 4.5818197244 15795934 15574749 15927086
MESH:D015427 Reperfusion Injury pirinixic acid 2.5819058328
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