AutismKB 2.0

Annotation Detail for SHKBP1


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Basic Information Top
Gene Symbol:SHKBP1 ( Sb1 )
Gene Full Name: SH3KBP1 binding protein 1
Band: 19q13.2
Quick LinksEntrez ID:92799; OMIM: NA; Uniprot ID:SHKB1_HUMAN; ENSEMBL ID: ENSG00000160410; HGNC ID: 19214
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
647Phosphoserine.
649Phosphoserine.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_138392
  • Location:chr19 45774629-45789140
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 45774144 45775015 871 50
P300 T0-glioblastomaGSE21026 45774300 45774863 563 48
P300 T30-glioblastomaGSE21026 45774305 45774919 614 18
p130 SenescentGSE19898 45774488 45774661 173 55
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 45783166 45784018 852 0
ETS1 JurkatGSE17954 45776164 45776780 616 0
H3K4me2 HCT116GSE10453 45775754 45775997 243 0
Oct1 H2O2-HelaGSE14283 45781929 45781961 32 0
TAF HelaGSE8489 45778786 45778931 145 0
TFAP2C MCF7GSE21234 45774635 45775127 492 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