AutismKB 2.0

Annotation Detail for GZMH


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Basic Information Top
Gene Symbol:GZMH ( CCP-X,CGL-2,CSP-C,CTLA1,CTSGL2 )
Gene Full Name: granzyme H (cathepsin G-like 2, protein h-CCPX)
Band: 14q12
Quick LinksEntrez ID:2999; OMIM: 116831; Uniprot ID:GRAH_HUMAN; ENSEMBL ID: ENSG00000100450; HGNC ID: 4710
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
71N-linked (GlcNAc...) (Potential).
104N-linked (GlcNAc...) (Potential).
179N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
71N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
104N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
179N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
71N-linkedHMM predict
132O-linkedHMM predict
149Phosphotyrosine(INSR)HMM predict
179N-linkedHMM predict
199O-linkedHMM predict
202O-linkedHMM predict
224Phosphothreonine(PKA)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_033423
  • Location:chr14 24145532-24148703
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 HelaGSE14283 24158447 24158499 52 9770
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 24144199 24144965 766 951
Oct1 H2O2-HelaGSE14283 24133787 24133816 29 11731
Oct1 HelaGSE14283 24133787 24133820 33 11729
hScc1 BcellGSE12603 24144380 24145006 626 840
hScc1 CdLSGSE12603 24144199 24145006 807 930
No data
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