AutismKB 2.0

Annotation Detail for INPP5E


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Basic Information Top
Gene Symbol:INPP5E ( CORS1,JBTS1,MGC117201,MORMS,PPI5PIV )
Gene Full Name: inositol polyphosphate-5-phosphatase, 72 kDa
Band: 9q34.3
Quick LinksEntrez ID:56623; OMIM: 613037; Uniprot ID:INP5E_HUMAN; ENSEMBL ID: ENSG00000148384; HGNC ID: 21474
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
99Phosphoserine.
109Phosphothreonine.
241Phosphoserine (By similarity).
Location(AA) Modifications Resource
Location(AA) Modification Resource
11O-linkedHMM predict
35MethylarginineHMM predict
38O-linkedHMM predict
45O-linkedHMM predict
54O-linkedHMM predict
57O-linkedHMM predict
57Phosphothreonine(MAPK)HMM predict
57Phosphothreonine(CDC2)HMM predict
59Phosphoserine(IKK)HMM predict
59O-linkedHMM predict
107N-linkedHMM predict
110Phosphoserine(CDC2)HMM predict
115Phosphoserine(CK2)HMM predict
127O-linkedHMM predict
129O-linkedHMM predict
132S-palmitoylHMM predict
153Phosphoserine(IKK)HMM predict
153Phosphoserine(CDC2)HMM predict
155Phosphoserine(CDC2)HMM predict
155O-linkedHMM predict
182Phosphoserine(CDK)HMM predict
241Phosphoserine(IKK)HMM predict
329SulfotyrosineHMM predict
334Phosphotyrosine(Jak)HMM predict
543Phosphotyrosine(Syk)HMM predict
543Phosphotyrosine(INSR)HMM predict
543Phosphotyrosine(EGFR)HMM predict
551Phosphothreonine(MAPK)HMM predict
553Phosphoserine(PKB)HMM predict
553PhosphoserineHMM predict
581Phosphothreonine(PKC)HMM predict
623Phosphoserine(PKG)HMM predict
623Phosphoserine(CK1)HMM predict
623PhosphoserineHMM predict
634Phosphoserine(ATM)HMM predict
636N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_019892
  • Location:chr9 138442892-138454076
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 138453971 138454275 304 47
CTCF CD4SISSRdata 138453971 138454275 304 47
hScc1 BcellGSE12603 138469443 138469963 520 15627
p130 SenescentGSE19898 138458385 138458635 250 4434
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
PHF8 293TGSE20725 138453495 138454370 875 0
PHF8 HeLaGSE20725 138452595 138454528 1933 0
PHF8 Hs68minusFBSGSE20725 138453535 138454234 699 0
hScc1 BcellGSE12603 138447108 138447622 514 0
hScc1 BcellGSE12603 138448031 138448283 252 0
hScc1 BcellGSE12603 138450537 138450823 286 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