AutismKB 2.0

Annotation Detail for SH3D19


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Basic Information Top
Gene Symbol:SH3D19 ( EBP,EVE1,Kryn,MGC105136,MGC118910,MGC118911,MGC118912,MGC118913,SH3P19 )
Gene Full Name: SH3 domain containing 19
Band: 4q31.3
Quick LinksEntrez ID:152503; OMIM: 608674; Uniprot ID:SH319_HUMAN; ENSEMBL ID: ENSG00000109686; HGNC ID: 30418
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
150Phosphoserine.
452Phosphotyrosine.
677Phosphoserine (By similarity).
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001009555
  • Location:chr4 152260888-152367021
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
hScc1 BcellGSE12603 152258089 152258233 144 2728
hScc1 CdLSGSE12603 152257839 152258233 394 2853
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 152315894 152316137 243 0
CTCF G2GSE9613 152340118 152340407 289 0
Oct1 HelaGSE14283 152309876 152309908 32 0
P300 T0-glioblastomaGSE21026 152339359 152340043 684 0
p130 shRbQuiescentGSE19898 152309821 152310174 353 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-218 hsa-mir-218-1 4 17998940
hsa-miR-218 hsa-mir-218-2 5 17998940
hsa-miR-218 hsa-mir-218-1 4 17998940
hsa-miR-218 hsa-mir-218-2 5 17998940
No data
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


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