AutismKB 2.0

Annotation Detail for SH2D1B


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Basic Information Top
Gene Symbol:SH2D1B ( EAT2 )
Gene Full Name: SH2 domain containing 1B
Band: 1q23.3
Quick LinksEntrez ID:117157; OMIM: 608510; Uniprot ID:SH21B_HUMAN; ENSEMBL ID: ENSG00000198574; HGNC ID: 30416
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
35Phosphoserine(IKK)HMM predict
43S-palmitoylHMM predict
62Phosphotyrosine(INSR)HMM predict
62Phosphotyrosine(Jak)HMM predict
62Phosphotyrosine(Syk)HMM predict
127Phosphotyrosine(Syk)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_053282
  • Location:chr1 160631679-160648551
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
STAT1 HeLaGSE12783 160657278 160658234 956 9205
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 160628363 160628878 515 3059
ER MCF7GSE19013 160624847 160625432 585 6540
Gata2 K562GSE18868 160622489 160623329 840 8771
P300 T0-glioblastomaGSE21026 160625578 160626424 846 5679
hScc1 BcellGSE12603 160628363 160628700 337 3148
hScc1 CdLSGSE12603 160628327 160628916 589 3058
hScc1 G2GSE9613 160628327 160628916 589 3058
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FoxA1 MCF7MACSdata 160644623 160644758 135 0
STAT1 HeLaGSE12782 160640976 160643004 2028 0
STAT1 HeLaGSE12783 160640976 160643004 2028 0
Validated miRNA targets Top
Cis-Nats regulation Top

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  (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