AutismKB 2.0

Annotation Detail for SH2B1


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Basic Information Top
Gene Symbol:SH2B1 ( DKFZp547G1110,FLJ30542,KIAA1299,PSM,SH2B )
Gene Full Name: SH2B adaptor protein 1
Band: 16p11.2
Quick LinksEntrez ID:25970; OMIM: 608937; Uniprot ID:SH2B1_HUMAN; ENSEMBL ID: ENSG00000178188; HGNC ID: 30417
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
88Phosphoserine.
96Phosphoserine.
125Phosphoserine (By similarity).
126Phosphoserine (By similarity).
439Phosphotyrosine; by JAK1, JAK2 and PDGFR
494Phosphotyrosine; by JAK1, JAK2 (By
624Phosphotyrosine.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_015503
  • Location:chr16 28782814-28793027
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 28782142 28782406 264 541
CTCF CD4SISSRdata 28782142 28782406 264 541
CTCF G2GSE9613 28782116 28782422 306 546
ETS1 JurkatGSE17954 28781858 28783163 1305 304
Myc K562GSE19551 28781978 28782761 783 445
PHF8 HeLaGSE20725 28781484 28783273 1789 436
PHF8 Hs68plusFBSGSE20725 28781851 28783437 1586 171
VDR GM10855-UnstimGSE22484 28781463 28783282 1819 442
VDR GM10855-stimGSE22484 28781624 28783194 1570 406
hScc1 BcellGSE12603 28782116 28782300 184 607
p130 shRbQuiescentGSE19898 28782091 28782884 793 327
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 28793161 28793402 241 254
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 28792487 28792666 179 0
CTCF CD4SISSRdata 28792487 28792666 179 0
CTCF G2GSE9613 28792302 28792667 365 0
GABP k562GSE8489 28782977 28783471 494 0
H3ac HepG2E 28782901 28783471 570 0
H3ac HepG2E 28783913 28784803 890 0
NRSF pAbJurkat 28784767 28785269 502 0
hScc1 BcellGSE12603 28792444 28792794 350 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