AutismKB 2.0

Annotation Detail for TBX6


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Basic Information Top
Gene Symbol:TBX6 ( DFNB67 )
Gene Full Name: T-box 6
Band: 16p11.2
Quick LinksEntrez ID:6911; OMIM: 602427; Uniprot ID:TBX6_HUMAN; ENSEMBL ID: ENSG00000149922; HGNC ID: 11605
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
80O-linkedHMM predict
173Phosphotyrosine(Jak)HMM predict
199N-linkedHMM predict
230Phosphoserine(ATM)HMM predict
250O-linkedHMM predict
303O-linkedHMM predict
306Phosphothreonine(CDC2)HMM predict
334O-linkedHMM predict
367O-linkedHMM predict
367Phosphoserine(CDC2)HMM predict
369Phosphoserine(PKC)HMM predict
369Phosphoserine(PKB)HMM predict
396O-linkedHMM predict
398Phosphotyrosine(EGFR)HMM predict
427TyrosineHMM 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