AutismKB 2.0

Annotation Detail for PHPT1


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Basic Information Top
Gene Symbol:PHPT1 ( CGI-202,DKFZp564M173,HSPC141,PHP14,RP11-216L13.10,bA216L13.10 )
Gene Full Name: phosphohistidine phosphatase 1
Band: 9q34.3
Quick LinksEntrez ID:29085; OMIM: 610167; Uniprot ID:PHP14_HUMAN; ENSEMBL ID: ENSG00000054148; HGNC ID: 30033
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
93Phosphotyrosine (By similarity).
116Phosphotyrosine.
125Phosphotyrosine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
80Phosphoserine(PKG)HMM predict
83Phosphoserine(ATM)HMM predict
106Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_014172
  • Location:chr9 138863366-138865308
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
TFAP2C MCF7GSE21234 138862688 138863951 1263 47
hScc1 BcellGSE12603 138860286 138861094 808 2677
hScc1 BcellGSE12603 138861922 138862901 979 955
p130 SenescentGSE19898 138862084 138862364 280 1143
p130 shRbSenescentGSE19898 138862145 138862407 262 1091
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 138863231 138864094 863 0
Fos K562GSE19551 138863178 138863947 769 0
P300 T30-glioblastomaGSE21026 138863298 138863925 627 0
PHF8 293TGSE20725 138862949 138864302 1353 0
PHF8 Hs68plusFBSGSE20725 138862956 138864135 1179 0
Rb QuiescentGSE19898 138863975 138864236 261 0
Rb shRbSenescenceGSE19898 138863972 138864127 155 0
p130 SenescentGSE19898 138863266 138863884 618 0
p130 SenescentGSE19898 138863988 138864261 273 0
p130 shRbQuiescentGSE19898 138863264 138863993 729 0
p130 shRbSenescentGSE19898 138863966 138864147 181 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