AutismKB 2.0

Annotation Detail for MCPH1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:MCPH1 ( BRIT1,FLJ12847,MCT )
Gene Full Name: microcephalin 1
Band: 8p23.1
Quick LinksEntrez ID:79648; OMIM: 607117; Uniprot ID:MCPH1_HUMAN; ENSEMBL ID: ENSG00000147316; HGNC ID: 6954
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
No data
Desease Name
CHEMDEPENDENCY
smoking cessation
No data
Desease Name
Premature chromosome condensation with microcephaly and mental retardation
Microcephaly, autosomal recessive 1
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D013752 Tetracycline Tetracycline results in increased expression of MCPH1 mRNAincreases expression 16917069
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D056486 Drug-Induced Liver Injury Tetracycline 3.0317522070
MESH:D005234 Fatty Liver Tetracycline 4.6719224547 16917069
OMIM:251200 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1 marker/mechanism
OMIM:606858 MOVED TO 251200 marker/mechanism
MESH:D009395 Nephritis, Interstitial Tetracycline 6.209884423
MESH:D010391 Pemphigoid, Bullous Tetracycline 6.8511026799
MESH:D017096 Prion Diseases Tetracycline 6.5010903871
No data
Pharmacogenomics Knowledge Base Top
Drug Bank Top

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