AutismKB 2.0

Annotation Detail for GGT1


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Basic Information Top
Gene Symbol:GGT1 ( CD224,D22S672,D22S732,GGT,GGT 1,GTG,MGC96892,MGC96904,MGC96963 )
Gene Full Name: gamma-glutamyltransferase 1
Band: 22q11.23
Quick LinksEntrez ID:2678; OMIM: 612346; Uniprot ID:GGT1_HUMAN; ENSEMBL ID: ENSG00000100031; HGNC ID: 4250
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
95N-linked (GlcNAc...).
120N-linked (GlcNAc...).
230N-linked (GlcNAc...).
266N-linked (GlcNAc...).
297N-linked (GlcNAc...).
344N-linked (GlcNAc...).
511N-linked (GlcNAc...).
Location(AA) Modifications Resource
95N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
120N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
230N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
266N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
297N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
344N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
511N-linked (GlcNAc...).Swiss-Prot 53.0
Location(AA) Modification Resource
94Phosphotyrosine(EGFR)HMM predict
95N-linkedHMM predict
120N-linkedHMM predict
125Phosphoserine(CK1)HMM predict
125Phosphoserine(ATM)HMM predict
230N-linkedHMM predict
297N-linkedHMM predict
302Phosphoserine(CK2)HMM predict
344N-linkedHMM predict
395Phosphoserine(IKK)HMM predict
397O-linkedHMM predict
410Phosphoserine(CDC2)HMM predict
426Phosphoserine(CDC2)HMM predict
426Phosphoserine(CDK)HMM predict
451O-linkedHMM predict
478O-linkedHMM predict
479O-linkedHMM predict
481O-linkedHMM predict
511N-linkedHMM predict
534Phosphothreonine(PKA)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001032364
  • Location:chr22 23329179-23354971
  • strand:+
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 23327930 23330961 3031 0
Myc K562GSE19551 23333391 23333748 357 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


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