AutismKB 2.0

Annotation Detail for RPUSD1


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Basic Information Top
Gene Symbol:RPUSD1 ( C16orf40,MGC19600,RLUCL )
Gene Full Name: RNA pseudouridylate synthase domain containing 1
Band: 16p13.3
Quick LinksEntrez ID:113000; OMIM: NA; Uniprot ID:RUSD1_HUMAN; ENSEMBL ID: ENSG00000007376; HGNC ID: 14173
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_058192
  • Location:chr16 774975-778383
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 774540 774997 457 207
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 775688 775910 222 0
CTCF CD4SISSRdata 775688 775910 222 0
CTCF JurkatGSE12889 775677 775851 174 0
CTCF G2GSE9613 775514 777205 1691 0
CTCF G2GSE9613 777706 778653 947 0
PHF8 HeLaGSE20725 777212 779555 2343 0
hScc1 CdLSGSE12603 775514 775943 429 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