UQCRB (ubiquinol-cytochrome c reductase binding protein) - Rat Genome Database

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Gene: UQCRB (ubiquinol-cytochrome c reductase binding protein) Homo sapiens
Analyze
Symbol: UQCRB
Name: ubiquinol-cytochrome c reductase binding protein
RGD ID: 1323703
HGNC Page HGNC
Description: Predicted to be involved in aerobic respiration and mitochondrial electron transport, ubiquinol to cytochrome c. Predicted to localize to mitochondrial respiratory chain complex III. Implicated in inherited metabolic disorder and mitochondrial complex III deficiency nuclear type 3.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: complex III subunit 7; complex III subunit VII; cytochrome b-c1 complex subunit 7; FLJ92016; FLJ97033; MC3DN3; mitochondrial ubiquinone-binding protein; QCR7; QP-C; QPC; ubiquinol-cytochrome c reductase complex 14 kDa protein; ubiquinol-cytochrome c reductase, complex III subunit VI; ubiquinone-binding protein; UQBC; UQBP; UQCR6; UQPC
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC727947   UQCRBP1   UQCRBP2   UQCRBP3  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl896,222,947 - 96,235,546 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl896,225,920 - 96,235,634 (-)EnsemblGRCh38hg38GRCh38
GRCh38896,222,947 - 96,235,545 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37897,235,175 - 97,247,773 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36897,311,910 - 97,316,987 (-)NCBINCBI36hg18NCBI36
Build 34897,311,910 - 97,316,987NCBI
Celera893,425,296 - 93,433,854 (-)NCBI
Cytogenetic Map8q22.1NCBI
HuRef892,444,462 - 92,453,413 (-)NCBIHuRef
CHM1_1897,279,143 - 97,288,101 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:2159470   PMID:2167087   PMID:2543413   PMID:2981208   PMID:3056408   PMID:8751380   PMID:12477932   PMID:15489334   PMID:16189514   PMID:18445752   PMID:19064571   PMID:19077451  
PMID:19549744   PMID:20803152   PMID:20877624   PMID:21215626   PMID:21873635   PMID:22545919   PMID:22939629   PMID:23443559   PMID:23475074   PMID:23708980   PMID:24344204   PMID:25277244  
PMID:25416956   PMID:25437307   PMID:25446085   PMID:26186194   PMID:26344197   PMID:27499296   PMID:27684187   PMID:28514442   PMID:28604960   PMID:29115404   PMID:29147009   PMID:29507755  
PMID:29513927   PMID:30021884   PMID:30033366   PMID:30120311   PMID:31056398   PMID:31536960   PMID:31617661   PMID:31980649   PMID:32071343   PMID:32296183   PMID:32814053   PMID:32877691  


Genomics

Comparative Map Data
UQCRB
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl896,222,947 - 96,235,546 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl896,225,920 - 96,235,634 (-)EnsemblGRCh38hg38GRCh38
GRCh38896,222,947 - 96,235,545 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37897,235,175 - 97,247,773 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36897,311,910 - 97,316,987 (-)NCBINCBI36hg18NCBI36
Build 34897,311,910 - 97,316,987NCBI
Celera893,425,296 - 93,433,854 (-)NCBI
Cytogenetic Map8q22.1NCBI
HuRef892,444,462 - 92,453,413 (-)NCBIHuRef
CHM1_1897,279,143 - 97,288,101 (-)NCBICHM1_1
Uqcrb
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391367,048,640 - 67,053,414 (-)NCBIGRCm39mm39
GRCm39 Ensembl1367,048,681 - 67,053,442 (-)Ensembl
GRCm381366,900,576 - 66,905,350 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1366,900,617 - 66,905,378 (-)EnsemblGRCm38mm10GRCm38
MGSCv371367,001,557 - 67,006,286 (-)NCBIGRCm37mm9NCBIm37
MGSCv361367,336,370 - 67,341,099 (-)NCBImm8
Celera1370,399,407 - 70,404,153 (+)NCBICelera
Cytogenetic Map13B3NCBI
Uqcrb
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2763,814,784 - 63,820,150 (-)NCBI
Rnor_6.0 Ensembl194,718,402 - 94,718,876 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 Ensembl771,264,514 - 71,269,869 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0771,264,501 - 71,269,869 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0771,436,501 - 71,441,869 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4767,958,363 - 67,963,730 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1767,979,647 - 67,984,492 (-)NCBI
Celera760,947,446 - 60,952,812 (-)NCBICelera
Cytogenetic Map7q22NCBI
LOC102014666
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495541712,225,505 - 12,232,944 (-)NCBIChiLan1.0ChiLan1.0
LOC100985683
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1895,053,173 - 95,058,311 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl895,053,170 - 95,058,311 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0892,856,055 - 92,860,697 (-)NCBIMhudiblu_PPA_v0panPan3
LOC119866751
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ROS_Cfam_1.02940,934,060 - 40,939,720 (-)NCBI
UMICH_Zoey_3.12940,977,344 - 40,982,559 (-)NCBI
UNSW_CanFamBas_1.02940,946,437 - 40,951,665 (-)NCBI
UU_Cfam_GSD_1.02941,409,574 - 41,414,443 (-)NCBI
LOC101976290
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530338,874,448 - 38,883,247 (+)NCBI
SpeTri2.0NW_00493647046,300,547 - 46,305,016 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
UQCRB
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1440,403,272 - 40,409,080 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2443,631,687 - 43,645,603 (-)NCBISscrofa10.2Sscrofa10.2susScr3
LOC103237165
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1891,194,628 - 91,199,264 (-)NCBI
ChlSab1.1 Ensembl891,194,625 - 91,199,219 (-)Ensembl
LOC101707358
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247633,550,916 - 3,555,430 (-)NCBI

Position Markers
A007G39  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37897,243,264 - 97,243,401UniSTSGRCh37
Build 36897,312,440 - 97,312,577RGDNCBI36
Celera893,429,256 - 93,429,393RGD
Cytogenetic Map8q22UniSTS
HuRef892,448,820 - 92,448,957UniSTS
GeneMap99-GB4 RH Map8442.24UniSTS
NCBI RH Map8993.0UniSTS
SHGC-12379  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37897,243,150 - 97,243,274UniSTSGRCh37
Build 36897,312,326 - 97,312,450RGDNCBI36
Celera893,429,142 - 93,429,266RGD
Cytogenetic Map8q22UniSTS
HuRef892,448,706 - 92,448,830UniSTS
Whitehead-YAC Contig MapX UniSTS
RH70819  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375159,685,333 - 159,685,549UniSTSGRCh37
GRCh371162,511,168 - 162,511,381UniSTSGRCh37
Build 361160,777,792 - 160,778,005RGDNCBI36
Celera5155,717,849 - 155,718,065UniSTS
Celera1135,614,207 - 135,614,420RGD
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map8q22UniSTS
Cytogenetic Map5q33.3UniSTS
HuRef5154,779,218 - 154,779,434UniSTS
HuRef1133,756,245 - 133,756,458UniSTS
WI-14041  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37897,240,431 - 97,240,567UniSTSGRCh37
Build 36897,309,607 - 97,309,743RGDNCBI36
Celera893,426,423 - 93,426,559RGD
Cytogenetic Map8q22UniSTS
HuRef892,445,989 - 92,446,125UniSTS
GeneMap99-GB4 RH Map8439.92UniSTS
Whitehead-RH Map8581.3UniSTS
NCBI RH Map81215.4UniSTS
GDB:335751  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map10q24.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map3q22.2UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map8q22UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map3p21-p12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map6p21.1-p12.2UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map13q12.13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map10q24-q25UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map9q22.32UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
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Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3586
Count of miRNA genes:1022
Interacting mature miRNAs:1207
Transcripts:ENST00000287022, ENST00000517523, ENST00000517603, ENST00000518406, ENST00000518876, ENST00000519322, ENST00000521036, ENST00000521948, ENST00000523920
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 2 4
Medium 2435 2257 1714 613 1240 454 4354 2174 3730 416 1455 1612 175 1 1203 2786 6 2
Low 4 728 12 11 707 11 3 23 4 3 1 1 2
Below cutoff 4 4 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001199975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001254752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_045639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AH002958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI365233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP003465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AV747179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI547559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU535281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR542176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR542196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M22348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M26700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M26701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M26702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M37387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X13585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000287022   ⟹   ENSP00000287022
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl896,222,947 - 96,235,545 (-)Ensembl
RefSeq Acc Id: ENST00000517523   ⟹   ENSP00000429787
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl896,230,939 - 96,233,219 (-)Ensembl
RefSeq Acc Id: ENST00000517603   ⟹   ENSP00000430672
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl896,230,477 - 96,235,543 (-)Ensembl
RefSeq Acc Id: ENST00000518406   ⟹   ENSP00000430494
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl896,230,942 - 96,235,539 (-)Ensembl
RefSeq Acc Id: ENST00000518876
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl896,230,936 - 96,235,544 (-)Ensembl
RefSeq Acc Id: ENST00000519322
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl896,231,297 - 96,235,545 (-)Ensembl
RefSeq Acc Id: ENST00000521036   ⟹   ENSP00000427862
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl896,230,715 - 96,235,546 (-)Ensembl
RefSeq Acc Id: ENST00000521948
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl896,231,063 - 96,233,915 (-)Ensembl
RefSeq Acc Id: ENST00000523920   ⟹   ENSP00000430560
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl896,231,095 - 96,235,546 (-)Ensembl
RefSeq Acc Id: NM_001199975   ⟹   NP_001186904
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38896,222,947 - 96,235,545 (-)NCBI
GRCh37897,238,904 - 97,247,862 (-)NCBI
HuRef892,444,462 - 92,453,413 (-)NCBI
CHM1_1897,279,143 - 97,288,101 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001254752   ⟹   NP_001241681
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38896,222,947 - 96,235,545 (-)NCBI
HuRef892,444,462 - 92,453,413 (-)NCBI
CHM1_1897,279,143 - 97,288,101 (-)NCBI
Sequence:
RefSeq Acc Id: NM_006294   ⟹   NP_006285
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38896,222,947 - 96,235,545 (-)NCBI
GRCh37897,238,904 - 97,247,862 (-)NCBI
Build 36897,311,910 - 97,316,987 (-)NCBI Archive
Celera893,425,296 - 93,433,854 (-)RGD
HuRef892,444,462 - 92,453,413 (-)NCBI
CHM1_1897,279,143 - 97,288,101 (-)NCBI
Sequence:
RefSeq Acc Id: NR_045639
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38896,222,947 - 96,235,545 (-)NCBI
GRCh37897,238,904 - 97,247,862 (-)NCBI
HuRef892,444,462 - 92,453,413 (-)NCBI
CHM1_1897,279,143 - 97,288,101 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_006285   ⟸   NM_006294
- Peptide Label: isoform 1
- UniProtKB: P14927 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001186904   ⟸   NM_001199975
- Peptide Label: isoform 2
- UniProtKB: P14927 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001241681   ⟸   NM_001254752
- Peptide Label: isoform 3
- UniProtKB: P14927 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000430672   ⟸   ENST00000517603
RefSeq Acc Id: ENSP00000429787   ⟸   ENST00000517523
RefSeq Acc Id: ENSP00000430494   ⟸   ENST00000518406
RefSeq Acc Id: ENSP00000427862   ⟸   ENST00000521036
RefSeq Acc Id: ENSP00000287022   ⟸   ENST00000287022
RefSeq Acc Id: ENSP00000430560   ⟸   ENST00000523920

Promoters
RGD ID:7213819
Promoter ID:EPDNEW_H12656
Type:initiation region
Name:UQCRB_1
Description:ubiquinol-cytochrome c reductase binding protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12658  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38896,235,543 - 96,235,603EPDNEW
RGD ID:6807153
Promoter ID:HG_KWN:61753
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_006294,   UC010MBC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36897,316,654 - 97,317,154 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
UQCRB, 4-BP DEL, NT338 deletion Mitochondrial complex III deficiency, nuclear type 1 [RCV000013093] Chr8:8q22 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1(chr8:92755532-97792132)x1 copy number loss See cases [RCV000054278] Chr8:92755532..97792132 [GRCh38]
Chr8:93767760..98804360 [GRCh37]
Chr8:93836936..98873536 [NCBI36]
Chr8:8q22.1
pathogenic
GRCh38/hg38 8q22.1(chr8:96065893-97276981)x1 copy number loss See cases [RCV000054279] Chr8:96065893..97276981 [GRCh38]
Chr8:97078121..98289209 [GRCh37]
Chr8:97147297..98358385 [NCBI36]
Chr8:8q22.1
pathogenic
NM_006294.4(UQCRB):c.91+16G>C single nucleotide variant not specified [RCV000126222] Chr8:96233140 [GRCh38]
Chr8:97245368 [GRCh37]
Chr8:8q22.1
benign
NM_006294.4(UQCRB):c.195G>A (p.Arg65=) single nucleotide variant not provided [RCV000677090]|not specified [RCV000126223] Chr8:96231837 [GRCh38]
Chr8:97244065 [GRCh37]
Chr8:8q22.1
benign|likely benign
NM_006294.4(UQCRB):c.-13C>T single nucleotide variant not specified [RCV000126224] Chr8:96235543 [GRCh38]
Chr8:97247771 [GRCh37]
Chr8:8q22.1
benign
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
NM_006294.4(UQCRB):c.274del (p.Glu92fs) deletion not provided [RCV000198622] Chr8:96231117 [GRCh38]
Chr8:97243345 [GRCh37]
Chr8:8q22.1
pathogenic
NM_006294.4(UQCRB):c.324G>T (p.Trp108Cys) single nucleotide variant not provided [RCV000196431] Chr8:96231067 [GRCh38]
Chr8:97243295 [GRCh37]
Chr8:8q22.1
likely pathogenic
NM_006294.4(UQCRB):c.56A>T (p.Lys19Ile) single nucleotide variant not provided [RCV000200023] Chr8:96233191 [GRCh38]
Chr8:97245419 [GRCh37]
Chr8:8q22.1
likely pathogenic
NM_006294.4(UQCRB):c.200T>A (p.Leu67Gln) single nucleotide variant not provided [RCV000375507] Chr8:96231832 [GRCh38]
Chr8:97244060 [GRCh37]
Chr8:8q22.1
conflicting interpretations of pathogenicity|uncertain significance
NM_001254752.1(UQCRB):c.*20_*23del deletion not provided [RCV000375478] Chr8:96231082..96231085 [GRCh38]
Chr8:97243310..97243313 [GRCh37]
Chr8:8q22.1
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_006294.4(UQCRB):c.279G>A (p.Pro93=) single nucleotide variant not specified [RCV000435044] Chr8:96231112 [GRCh38]
Chr8:97243340 [GRCh37]
Chr8:8q22.1
likely benign
NM_006294.4(UQCRB):c.-39T>C single nucleotide variant not provided [RCV000767327]|not specified [RCV000419792] Chr8:96235569 [GRCh38]
Chr8:97247797 [GRCh37]
Chr8:8q22.1
likely benign|not provided
NM_006294.4(UQCRB):c.19+13G>C single nucleotide variant not specified [RCV000443732] Chr8:96235499 [GRCh38]
Chr8:97247727 [GRCh37]
Chr8:8q22.1
likely benign
NM_006294.4(UQCRB):c.91+11G>C single nucleotide variant not specified [RCV000444354] Chr8:96233145 [GRCh38]
Chr8:97245373 [GRCh37]
Chr8:8q22.1
likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
NM_006294.4(UQCRB):c.258+7C>T single nucleotide variant not specified [RCV000616182] Chr8:96231767 [GRCh38]
Chr8:97243995 [GRCh37]
Chr8:8q22.1
likely benign
NM_001254752.1(UQCRB):c.*24G>T single nucleotide variant not provided [RCV000513121] Chr8:96231081 [GRCh38]
Chr8:97243309 [GRCh37]
Chr8:8q22.1
likely pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3 copy number gain not provided [RCV000683045] Chr8:86841154..116518125 [GRCh37]
Chr8:8q21.2-23.3
pathogenic
GRCh37/hg19 8q22.1(chr8:96468763-98522743)x1 copy number loss not provided [RCV000683017] Chr8:96468763..98522743 [GRCh37]
Chr8:8q22.1
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1(chr8:97154645-98155535)x3 copy number gain Leri pleonosteosis [RCV000856633] Chr8:97154645..98155535 [GRCh37]
Chr8:8q22.1
pathogenic
NM_006294.4(UQCRB):c.-100G>T single nucleotide variant not provided [RCV000835233] Chr8:96235630 [GRCh38]
Chr8:97247858 [GRCh37]
Chr8:8q22.1
likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_006294.4(UQCRB):c.258+213C>G single nucleotide variant not provided [RCV000836226] Chr8:96231561 [GRCh38]
Chr8:97243789 [GRCh37]
Chr8:8q22.1
likely benign
NM_006294.4(UQCRB):c.259-274C>T single nucleotide variant not provided [RCV000836229] Chr8:96231406 [GRCh38]
Chr8:97243634 [GRCh37]
Chr8:8q22.1
likely benign
NM_006294.4(UQCRB):c.20-143T>C single nucleotide variant not provided [RCV000837915] Chr8:96233370 [GRCh38]
Chr8:97245598 [GRCh37]
Chr8:8q22.1
likely benign
NM_006294.4(UQCRB):c.19+271T>C single nucleotide variant not provided [RCV000844531] Chr8:96235241 [GRCh38]
Chr8:97247469 [GRCh37]
Chr8:8q22.1
benign
GRCh37/hg19 8q22.1(chr8:96646399-98973327)x3 copy number gain not provided [RCV001006122] Chr8:96646399..98973327 [GRCh37]
Chr8:8q22.1
likely pathogenic
NM_006294.5(UQCRB):c.258+268G>A single nucleotide variant Mitochondrial complex III deficiency, nuclear type 3 [RCV001002413] Chr8:96231506 [GRCh38]
Chr8:97243734 [GRCh37]
Chr8:8q22.1
likely benign
GRCh37/hg19 8q22.1(chr8:95803280-97802022)x3 copy number gain not provided [RCV001259019] Chr8:95803280..97802022 [GRCh37]
Chr8:8q22.1
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12582 AgrOrtholog
COSMIC UQCRB COSMIC
Ensembl Genes ENSG00000156467 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000287022 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000427862 UniProtKB/TrEMBL
  ENSP00000429787 UniProtKB/TrEMBL
  ENSP00000430494 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000430560 UniProtKB/TrEMBL
  ENSP00000430672 UniProtKB/TrEMBL
Ensembl Transcript ENST00000287022 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000517523 UniProtKB/TrEMBL
  ENST00000517603 UniProtKB/TrEMBL
  ENST00000518406 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000521036 UniProtKB/TrEMBL
  ENST00000523920 UniProtKB/TrEMBL
Gene3D-CATH 1.10.1090.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000156467 GTEx
HGNC ID HGNC:12582 ENTREZGENE
Human Proteome Map UQCRB Human Proteome Map
InterPro QCR7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  QCR7_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7381 UniProtKB/Swiss-Prot
NCBI Gene 7381 ENTREZGENE
OMIM 191330 OMIM
  615158 OMIM
PANTHER PTHR12022 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam UCR_14kD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37213 PharmGKB
PIRSF Bc1_14K UniProtKB/Swiss-Prot
Superfamily-SCOP SSF81524 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B7Z2R2_HUMAN UniProtKB/TrEMBL
  E5RHG9_HUMAN UniProtKB/TrEMBL
  E5RIT7_HUMAN UniProtKB/TrEMBL
  P14927 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary E5RJU0 UniProtKB/Swiss-Prot
  Q6FGD1 UniProtKB/Swiss-Prot