AutismKB 2.0

Annotation Detail for GBX1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:GBX1 ( - )
Gene Full Name: gastrulation brain homeobox 1
Band: 7q36.1
Quick LinksEntrez ID:2636; OMIM: 603354; Uniprot ID:GBX1_HUMAN; ENSEMBL ID: ENSG00000164900; HGNC ID: 4185
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
97Phosphoserine(MAPK)HMM predict
172O-linkedHMM predict
186Phosphoserine(CK2)HMM predict
187Phosphoserine(CK2)HMM predict
187Phosphoserine(ATM)HMM predict
202Phosphoserine(CK2)HMM predict
209Phosphoserine(CK1)HMM predict
213Phosphoserine(CK2)HMM predict
266Phosphothreonine(PKA)HMM predict
323N-linkedHMM predict
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