AutismKB 2.0

Annotation Detail for RPUSD3


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Basic Information Top
Gene Symbol:RPUSD3 ( FLJ34707,FLJ37268,MGC29784 )
Gene Full Name: RNA pseudouridylate synthase domain containing 3
Band: 3p25.3
Quick LinksEntrez ID:285367; OMIM: NA; Uniprot ID:RUSD3_HUMAN; ENSEMBL ID: ENSG00000156990; HGNC ID: 28437
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_173659
  • Location:chr3 9854533-9860675
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 9865579 9865711 132 4970
CTCF CD4SISSRdata 9865579 9865711 132 4970
ER E2-MCF7GSE14664 9869385 9869417 32 8726
Fos K562GSE19551 9860473 9860970 497 46
Oct1 HelaGSE14283 9864119 9864161 42 3465
Rb SenescentGSE19898 9860621 9860916 295 93
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER Fulvestrant-MCF7GSE14664 9854029 9854066 37 486
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 9854682 9854862 180 0
CTCF G2GSE9613 9859922 9860883 961 0
H3ac HepG2E 9858462 9859419 957 0
H3ac HepG2E 9859886 9860192 306 0
PHF8 HeLaGSE20725 9859676 9861279 1603 0
TAFII hESGSE17917 9860264 9861000 736 0
p130 SenescentGSE19898 9860389 9860726 337 0
p130 shRbQuiescentGSE19898 9860262 9860645 383 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