AutismKB 2.0

Annotation Details for TMC1


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Basic Information Top
Gene Symbol:TMC1 ( DFNA36,DFNB11,DFNB7 )
Gene Full Name: transmembrane channel-like 1
Band: 9q21.13
Quick LinksEntrez ID:117531; OMIM: 606706; Uniprot ID:TMC1_HUMAN; ENSEMBL ID: ENSG00000165091; HGNC ID: 16513
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0009897IEA-external side of plasma membrane-
GO:0016021IEA-integral component of membrane-
GO:0032426IEA-stereocilium tip-
GO ID Evidence Qualifier GO_term References
GO:0005245IEA-voltage-gated calcium channel activity-
GO:0008381IEA-mechanically-gated ion channel activity-
GO ID Evidence Qualifier GO_term References
GO:0050910IEA-detection of mechanical stimulus involved in sensory perception of sound-
GO:0060005IEA-vestibular reflex-
GO:0060117IEA-auditory receptor cell development-
GO:0070588IEA-calcium ion transmembrane transport-
GO:1903169IEA-regulation of calcium ion transmembrane transport-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2151016
  • Data Attributes: MGI curated and HomoloGene calculated
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