AutismKB 2.0

Annotation Detail for SHD


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Basic Information Top
Gene Symbol:SHD ( - )
Gene Full Name: Src homology 2 domain containing transforming protein D
Band: 19p13.3
Quick LinksEntrez ID:56961; OMIM: 610481; Uniprot ID:SHD_HUMAN; ENSEMBL ID: ENSG00000105251; HGNC ID: 30633
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
22Phosphothreonine(MAPK)HMM predict
46Phosphotyrosine(SRC)HMM predict
46Phosphotyrosine(Syk)HMM predict
46Phosphotyrosine(EGFR)HMM predict
106Phosphotyrosine(Syk)HMM predict
123PhosphotyrosineHMM predict
123Phosphotyrosine(Syk)HMM predict
123SulfotyrosineHMM predict
123Phosphotyrosine(INSR)HMM predict
148Phosphotyrosine(Syk)HMM predict
161Phosphoserine(CDK)HMM predict
168PhosphoserineHMM predict
222Phosphoserine(CDC2)HMM predict
252Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_020209
  • Location:chr19 4230658-4241719
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
hScc1 BcellGSE12603 4229546 4230689 1143 541
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 HelaGSE14283 4242035 4242158 123 377
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 4230505 4231205 700 0
Fos K562GSE19551 4235452 4235938 486 0
Oct1 HelaGSE14283 4235345 4235373 28 0
p130 SenescentGSE19898 4241436 4241665 229 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