AutismKB 2.0

Annotation Detail for C1GALT1


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Basic Information Top
Gene Symbol:C1GALT1 ( C1GALT,T-synthase )
Gene Full Name: core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1
Band: 7p22.1-p21.3
Quick LinksEntrez ID:56913; OMIM: 610555; Uniprot ID:C1GLT_HUMAN; ENSEMBL ID: ENSG00000106392; HGNC ID: 24337
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
235Phosphoserine (By similarity).
Location(AA) Modifications Resource
235Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
70Phosphoserine(ATM)HMM predict
173Phosphotyrosine(Jak)HMM predict
206Phosphotyrosine(INSR)HMM predict
213Phosphotyrosine(Jak)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_020156
  • Location:chr7 7240413-7250503
  • strand:+
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Nanog hESGSE18292 7243655 7244307 652 0
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