AutismKB 2.0

Annotation Detail for GH1


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Basic Information Top
Gene Symbol:GH1 ( GH,GH-N,GHN,IGHD1B,hGH-N )
Gene Full Name: growth hormone 1
Band: 17q23.3
Quick LinksEntrez ID:2688; OMIM: 139250; Uniprot ID:SOMA_HUMAN; ENSEMBL ID: ENSG00000189162; HGNC ID: 4261
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
132Phosphoserine.
163Deamidated glutamine; by deterioration.
176Phosphoserine.
178Deamidated asparagine; by deterioration.
Location(AA) Modifications Resource
77PhosphoserinePhospho.ELM 6.0
132Phosphoserine.Swiss-Prot 53.0
132PhosphoserinePhospho.ELM 6.0
163Deamidated glutamine.Swiss-Prot 53.0
176Phosphoserine.Swiss-Prot 53.0
176PhosphoserinePhospho.ELM 6.0
178Deamidated asparagine.Swiss-Prot 53.0
Location(AA) Modification Resource
54Phosphotyrosine(EGFR)HMM predict
54Phosphotyrosine(Syk)HMM predict
61Phosphotyrosine(EGFR)HMM predict
61Phosphotyrosine(Jak)HMM predict
61SulfotyrosineHMM predict
69Phosphoserine(IKK)HMM predict
137Phosphotyrosine(Syk)HMM predict
215S-farnesylHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000515
  • Location:chr17 59348295-59349929
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 59350400 59350571 171 556
CTCF CD4SISSRdata 59350400 59350571 171 556
CTCF JurkatGSE12889 59350388 59350608 220 569
CTCF G2GSE9613 59350093 59350657 564 446
Myc K562GSE19551 59350288 59350659 371 544
hScc1 BcellGSE12603 59350028 59350657 629 413
hScc1 CdLSGSE12603 59349958 59350657 699 378
hScc1 G2GSE9613 59350165 59350657 492 482
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
PHF8 Hs68plusFBSGSE20725 59347611 59348823 1212 79
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 59349454 59349723 269 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