AutismKB 2.0

Annotation Detail for UQCRC1


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Basic Information Top
Gene Symbol:UQCRC1 ( D3S3191,QCR1,UQCR1 )
Gene Full Name: ubiquinol-cytochrome c reductase core protein I
Band: 3p21.31
Quick LinksEntrez ID:7384; OMIM: 191328; Uniprot ID:QCR1_HUMAN; ENSEMBL ID: ENSG00000010256; HGNC ID: 12585
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
111N6-acetyllysine.
138N6-acetyllysine (By similarity).
248N6-acetyllysine (By similarity).
381Phosphothreonine.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_003365
  • Location:chr3 48611435-48622101
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 48621964 48622329 365 45
CTCF CD4SISSRdata 48621964 48622329 365 45
Rb GrowingGSE19898 48622042 48622276 234 58
Rb QuiescentGSE19898 48621942 48622281 339 10
Rb SenescentGSE19898 48621893 48622443 550 67
Rb shRbQuiescentGSE19898 48622031 48622257 226 43
Rb shRbSenescenceGSE19898 48621976 48622360 384 67
p130 QuiescentGSE19898 48622034 48622223 189 27
p130 SenescentGSE19898 48622054 48622275 221 63
p130 shRbQuiescentGSE19898 48622070 48622523 453 195
p130 shRbSenescentGSE19898 48621842 48622469 627 54
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 48611014 48611190 176 334
TFAP2C MCF7GSE21234 48610601 48612057 1456 107
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 48611531 48611893 362 0
CTCF G2GSE9613 48612139 48612798 659 0
CTCF G2GSE9613 48613393 48613997 604 0
CTCF G2GSE9613 48616188 48617076 888 0
CTCF G2GSE9613 48621498 48622448 950 0
H3ac HepG2E 48621227 48621973 746 0
PHF8 HeLaGSE20725 48621264 48622507 1243 0
Rb SenescentGSE19898 48621477 48621672 195 0
hScc1 BcellGSE12603 48615262 48615836 574 0
hScc1 BcellGSE12603 48621695 48622448 753 0
p130 QuiescentGSE19898 48621448 48621810 362 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