AutismKB 2.0

Annotation Detail for UQCRFS1


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Basic Information Top
Gene Symbol:UQCRFS1 ( RIP1,RIS1,RISP,UQCR5 )
Gene Full Name: ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1
Band: 19q12
Quick LinksEntrez ID:7386; OMIM: 191327; Uniprot ID:UCRI_HUMAN; ENSEMBL ID: ENSG00000169021; HGNC ID: 12587
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
37Phosphothreonine(MAPK)HMM predict
37Phosphothreonine(CDK)HMM predict
54Phosphoserine(CK1)HMM predict
91Phosphotyrosine(EGFR)HMM predict
106Phosphoserine(CK2)HMM predict
121O-linkedHMM predict
180Phosphothreonine(PKC)HMM predict
234Phosphotyrosine(INSR)HMM predict
263TyrosineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_006003
  • Location:chr19 34390006-34395953
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 34395475 34396454 979 11
Oct1 H2O2-HelaGSE14283 34400355 34400385 30 4417
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 34395470 34395993 523 0
H3K4me3 colorectalcancer 34394072 34395181 1109 0
H3ac HepG2E 34394147 34395181 1034 0
PHF8 Hs68plusFBSGSE20725 34394630 34396333 1703 0
TAF k562GSE8489 34394106 34395181 1075 0
hScc1 BcellGSE12603 34395470 34395845 375 0
p130 shRbSenescentGSE19898 34395840 34396063 223 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