AutismKB 2.0

Annotation Detail for C9orf172


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Basic Information Top
Gene Symbol:C9orf172 ( - )
Gene Full Name: chromosome 9 open reading frame 172
Band: 9q34.3
Quick LinksEntrez ID:389813; OMIM: NA; Uniprot ID:CI172_HUMAN; ENSEMBL ID: ENSG00000232434; HGNC ID: 37284
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
109Phosphoserine (By similarity).
129Phosphoserine (By similarity).
448Phosphoserine (By similarity).
498Phosphothreonine (By similarity).
511Phosphothreonine (By similarity).
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
Validated miRNA targets Top
Cis-Nats regulation 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