AutismKB 2.0

Annotation Detail for INPP5K


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:INPP5K ( PPS,SKIP )
Gene Full Name: inositol polyphosphate-5-phosphatase K
Band: 17p13.3
Quick LinksEntrez ID:51763; OMIM: 607875; Uniprot ID:INP5K_HUMAN; ENSEMBL ID: ENSG00000132376; HGNC ID: 33882
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_130766
  • Location:chr17 1344621-1366703
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
PHF8 293TGSE20725 1366156 1367268 1112 9
PHF8 HeLaGSE20725 1365983 1367875 1892 226
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 1365583 1366864 1281 0
ETS1 JurkatGSE17954 1365763 1367478 1715 0
H3K4me3 colorectalcancer 1365740 1366184 444 0
H3ac HepG2E 1365548 1366213 665 0
TFAP2C MCF7GSE21234 1359237 1359713 476 0
hScc1 BcellGSE12603 1365442 1366995 1553 0
hScc1 CdLSGSE12603 1365583 1367095 1512 0
hScc1 G2GSE9613 1365583 1366864 1281 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