AutismKB 2.0

Annotation Detail for SPHKAP


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Basic Information Top
Gene Symbol:SPHKAP ( DKFZp781H143,DKFZp781J171,KIAA1678,MGC132614,MGC132616,SKIP )
Gene Full Name: SPHK1 interactor, AKAP domain containing
Band: 2q36.3
Quick LinksEntrez ID:80309; OMIM: 611646; Uniprot ID:SPKAP_HUMAN; ENSEMBL ID: ENSG00000153820; HGNC ID: 30619
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_030623
  • Location:chr2 228552918-228754585
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
KLF4 hESGSE17917 228756669 228756852 183 2175
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF HelaGSE12889 228574327 228574556 229 0
CTCF G2GSE9613 228721454 228721638 184 0
CTCF G2GSE9613 228753306 228753684 378 0
CTCF G2GSE9613 228754213 228754941 728 0
Nanog hESGSE18292 228602709 228602991 282 0
Oct4 hESGSE17917 228589265 228589509 244 0
Sox2 hESGSE18292 228602796 228603019 223 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