COX6B1 (cytochrome c oxidase subunit 6B1) - Rat Genome Database

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Gene: COX6B1 (cytochrome c oxidase subunit 6B1) Homo sapiens
Analyze
Symbol: COX6B1
Name: cytochrome c oxidase subunit 6B1
RGD ID: 1343660
HGNC Page HGNC:2280
Description: Predicted to enable cytochrome-c oxidase activity. Involved in substantia nigra development. Located in mitochondrion. Part of mitochondrial membrane. Implicated in mitochondrial complex IV deficiency nuclear type 7.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: COX VIb-1; COX6B; COXG; COXVIb1; cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous); MC4DN7
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: COX6B1P1   COX6B1P2   COX6B1P3   COX6B1P4   COX6B1P5   COX6B1P6   COX6B1P7  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381935,648,323 - 35,658,782 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1935,648,323 - 35,658,782 (+)EnsemblGRCh38hg38GRCh38
GRCh371936,139,225 - 36,149,684 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361940,830,995 - 40,841,524 (+)NCBINCBI36Build 36hg18NCBI36
Build 341940,830,994 - 40,841,523NCBI
Celera1932,852,598 - 32,863,159 (+)NCBICelera
Cytogenetic Map19q13.12NCBI
HuRef1932,644,378 - 32,654,939 (+)NCBIHuRef
CHM1_11936,140,657 - 36,151,217 (+)NCBICHM1_1
T2T-CHM13v2.01938,193,302 - 38,203,762 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-dexrazoxane  (ISO)
(1->4)-beta-D-glucan  (ISO)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-diaminobutyric acid  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (ISO)
5-Hydroxythalidomide  (EXP,ISO)
ampicillin  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
astaxanthin  (ISO)
azoxystrobin  (EXP)
benzo[a]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
Brodifacoum  (ISO)
cadmium dichloride  (EXP)
captan  (ISO)
CGP 52608  (EXP)
chloropicrin  (EXP)
cisplatin  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
corosolic acid  (EXP)
cyclosporin A  (EXP,ISO)
doxorubicin  (EXP,ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
folic acid  (ISO)
folpet  (ISO)
gentamycin  (ISO)
hydralazine  (EXP)
isoniazide  (ISO)
ivermectin  (EXP)
maneb  (ISO)
melatonin  (ISO)
methidathion  (ISO)
methotrexate  (EXP)
methylparaben  (EXP)
metronidazole  (ISO)
neomycin  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP)
picoxystrobin  (EXP)
pirinixic acid  (ISO)
progesterone  (ISO)
pyrimidifen  (EXP)
pyrogallol  (ISO)
quercetin  (EXP)
resveratrol  (ISO)
rotenone  (EXP)
sodium arsenite  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
titanium dioxide  (ISO)
toluene  (ISO)
triphenyl phosphate  (EXP)
tungsten  (ISO)
tunicamycin  (EXP)
valproic acid  (EXP)
vancomycin  (ISO)
vincaleukoblastine  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1647217   PMID:1650756   PMID:1651883   PMID:2172092   PMID:2537962   PMID:7821789   PMID:11943455   PMID:12477932   PMID:15057824   PMID:15489334   PMID:17353931   PMID:17500595  
PMID:17516841   PMID:18029348   PMID:18499082   PMID:19843159   PMID:20877624   PMID:21873635   PMID:22190034   PMID:22419111   PMID:22926577   PMID:22939629   PMID:24344204   PMID:24781756  
PMID:25329893   PMID:25409632   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26577226   PMID:27499296   PMID:27609421   PMID:28514442   PMID:28700943   PMID:29568061   PMID:29791485  
PMID:30030519   PMID:31470122   PMID:31527615   PMID:31536960   PMID:31617661   PMID:31980649   PMID:32513696   PMID:32707033   PMID:32877691   PMID:33545068   PMID:33729478   PMID:33961781  
PMID:34079125   PMID:34349018   PMID:34373451   PMID:34800366   PMID:35013218   PMID:35063084   PMID:35140242   PMID:35944360   PMID:36225252   PMID:36373674   PMID:36724073   PMID:37827155  
PMID:38297188   PMID:38334954  


Genomics

Comparative Map Data
COX6B1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381935,648,323 - 35,658,782 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1935,648,323 - 35,658,782 (+)EnsemblGRCh38hg38GRCh38
GRCh371936,139,225 - 36,149,684 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361940,830,995 - 40,841,524 (+)NCBINCBI36Build 36hg18NCBI36
Build 341940,830,994 - 40,841,523NCBI
Celera1932,852,598 - 32,863,159 (+)NCBICelera
Cytogenetic Map19q13.12NCBI
HuRef1932,644,378 - 32,654,939 (+)NCBIHuRef
CHM1_11936,140,657 - 36,151,217 (+)NCBICHM1_1
T2T-CHM13v2.01938,193,302 - 38,203,762 (+)NCBIT2T-CHM13v2.0
Cox6b1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39730,316,396 - 30,325,539 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl730,316,286 - 30,325,576 (-)EnsemblGRCm39 Ensembl
GRCm38730,616,971 - 30,626,114 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl730,616,861 - 30,626,151 (-)EnsemblGRCm38mm10GRCm38
MGSCv37731,401,993 - 31,411,170 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36730,325,734 - 30,334,911 (-)NCBIMGSCv36mm8
MGSCv36722,894,581 - 22,903,778 (-)NCBIMGSCv36mm8
Celera725,208,771 - 25,217,172 (-)NCBICelera
Cytogenetic Map7B1NCBI
cM Map718.84NCBI
Cox6b1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8195,002,513 - 95,011,516 (-)NCBIGRCr8
mRatBN7.2185,875,080 - 85,884,081 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl185,875,109 - 85,884,001 (-)EnsemblmRatBN7.2 Ensembl
mRatBN7.2 Ensembl2196,169,217 - 196,184,807 (+)EnsemblmRatBN7.2 Ensembl
mRatBN7.2 Ensembl569,646,379 - 69,646,672 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx191,291,647 - 91,298,770 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0199,757,820 - 99,764,941 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0193,049,937 - 93,057,059 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0189,075,987 - 89,084,834 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl189,075,975 - 89,084,859 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 Ensembl2211,337,271 - 211,337,531 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0190,230,830 - 90,240,520 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4185,669,891 - 85,677,195 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera180,246,804 - 80,254,197 (-)NCBICelera
Cytogenetic Map1q21NCBI
LOC102025227
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554682,884,958 - 2,891,988 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554682,884,958 - 2,891,952 (-)NCBIChiLan1.0ChiLan1.0
LOC100972703
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22041,644,489 - 41,655,044 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11943,627,947 - 43,638,506 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01932,578,126 - 32,588,684 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11941,314,020 - 41,324,489 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1941,314,020 - 41,324,489 (+)Ensemblpanpan1.1panPan2
LOC612644
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11116,960,851 - 116,969,415 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1116,366,059 - 116,374,616 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01117,564,045 - 117,572,630 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.11117,127,088 - 117,135,659 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01116,750,997 - 116,759,548 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01117,806,857 - 117,815,447 (-)NCBIUU_Cfam_GSD_1.0
LOC101972214
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344133,636,614 - 133,637,083 (+)NCBIHiC_Itri_2
SpeTri2.0NW_004936543399,447 - 399,911 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
COX6B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl645,091,895 - 45,102,669 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1645,091,829 - 45,102,785 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2640,548,689 - 40,559,158 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LOC103242353
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1167,611,114 - 7,611,617 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605913,789,217 - 13,789,641 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
LOC101697786
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247949,961,643 - 9,971,948 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247949,962,206 - 9,970,501 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in COX6B1
48 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001863.5(COX6B1):c.59G>A (p.Arg20His) single nucleotide variant Mitochondrial complex IV deficiency, nuclear type 1 [RCV000018371] Chr19:35651302 [GRCh38]
Chr19:36142204 [GRCh37]
Chr19:19q13.12
pathogenic
NM_001863.5(COX6B1):c.228A>G (p.Gln76=) single nucleotide variant Mitochondrial complex IV deficiency, nuclear type 1 [RCV001124440]|not provided [RCV000961636]|not specified [RCV000124586] Chr19:35658614 [GRCh38]
Chr19:36149516 [GRCh37]
Chr19:19q13.12
benign|uncertain significance
NM_001863.5(COX6B1):c.42C>T (p.Thr14=) single nucleotide variant COX6B1-related disorder [RCV003975101]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000272774]|not provided [RCV000677072]|not specified [RCV000124587] Chr19:35651285 [GRCh38]
Chr19:36142187 [GRCh37]
Chr19:19q13.12
benign|likely benign
NM_001863.5(COX6B1):c.58C>T (p.Arg20Cys) single nucleotide variant Mitochondrial complex IV deficiency, nuclear type 1 [RCV000201789] Chr19:35651301 [GRCh38]
Chr19:36142203 [GRCh37]
Chr19:19q13.12
pathogenic|likely pathogenic
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31
pathogenic
GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1 copy number loss See cases [RCV000135879] Chr19:29661858..38114723 [GRCh38]
Chr19:30152765..38605363 [GRCh37]
Chr19:34844605..43297203 [NCBI36]
Chr19:19q12-13.13
pathogenic
GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1 copy number loss See cases [RCV000136794] Chr19:29671324..37902990 [GRCh38]
Chr19:30162231..38393630 [GRCh37]
Chr19:34854071..43085470 [NCBI36]
Chr19:19q12-13.13
pathogenic
NM_001863.5(COX6B1):c.136G>A (p.Ala46Thr) single nucleotide variant Inborn genetic diseases [RCV003372649]|not provided [RCV000197089] Chr19:35654600 [GRCh38]
Chr19:36145502 [GRCh37]
Chr19:19q13.12
likely benign|uncertain significance
NM_001863.5(COX6B1):c.247C>T (p.Pro83Ser) single nucleotide variant Inborn genetic diseases [RCV002515390]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000320973]|not provided [RCV000198288] Chr19:35658633 [GRCh38]
Chr19:36149535 [GRCh37]
Chr19:19q13.12
uncertain significance
NM_001863.4(COX6B1):c.-145G>A single nucleotide variant Mitochondrial complex IV deficiency, nuclear type 1 [RCV000269405]|not provided [RCV001539117] Chr19:35648270 [GRCh38]
Chr19:36139172 [GRCh37]
Chr19:19q13.12
benign|likely benign
NM_001863.4(COX6B1):c.-133A>G single nucleotide variant Mitochondrial complex IV deficiency, nuclear type 1 [RCV000308204] Chr19:35648282 [GRCh38]
Chr19:36139184 [GRCh37]
Chr19:19q13.12
uncertain significance
NM_001863.5(COX6B1):c.-47A>G single nucleotide variant Mitochondrial complex IV deficiency, nuclear type 1 [RCV000365070] Chr19:35648368 [GRCh38]
Chr19:36139270 [GRCh37]
Chr19:19q13.12
uncertain significance
GRCh37/hg19 19q13.12(chr19:35658728-36173537)x3 copy number gain not provided [RCV000752672] Chr19:35658728..36173537 [GRCh37]
Chr19:19q13.12
benign
NM_001863.5(COX6B1):c.107-16A>G single nucleotide variant Mitochondrial complex 4 deficiency, nuclear type 7 [RCV002502469]|not provided [RCV002061370]|not specified [RCV000425026] Chr19:35654555 [GRCh38]
Chr19:36145457 [GRCh37]
Chr19:19q13.12
benign|likely benign
GRCh37/hg19 19q13.12(chr19:35723176-36183886)x3 copy number gain See cases [RCV000448697] Chr19:35723176..36183886 [GRCh37]
Chr19:19q13.12
uncertain significance
GRCh37/hg19 19q13.12(chr19:36147111-37249653)x1 copy number loss See cases [RCV000511504] Chr19:36147111..37249653 [GRCh37]
Chr19:19q13.12
uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
NM_001863.5(COX6B1):c.-36C>G single nucleotide variant not specified [RCV000601450] Chr19:35648379 [GRCh38]
Chr19:36139281 [GRCh37]
Chr19:19q13.12
likely benign
NM_001863.5(COX6B1):c.243G>A (p.Thr81=) single nucleotide variant Mitochondrial complex 4 deficiency, nuclear type 7 [RCV002491255]|not provided [RCV002063268]|not specified [RCV000613210] Chr19:35658629 [GRCh38]
Chr19:36149531 [GRCh37]
Chr19:19q13.12
likely benign
NM_001863.5(COX6B1):c.-11-8G>A single nucleotide variant Mitochondrial complex 4 deficiency, nuclear type 7 [RCV002506458]|not specified [RCV000602542] Chr19:35651225 [GRCh38]
Chr19:36142127 [GRCh37]
Chr19:19q13.12
likely benign
NM_001863.5(COX6B1):c.249C>T (p.Pro83=) single nucleotide variant not provided [RCV001722624] Chr19:35658635 [GRCh38]
Chr19:36149537 [GRCh37]
Chr19:19q13.12
likely benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_001863.5(COX6B1):c.106+14T>C single nucleotide variant not provided [RCV001611321] Chr19:35651363 [GRCh38]
Chr19:36142265 [GRCh37]
Chr19:19q13.12
likely benign
NM_001863.5(COX6B1):c.107-194T>C single nucleotide variant not provided [RCV001610891] Chr19:35654377 [GRCh38]
Chr19:36145279 [GRCh37]
Chr19:19q13.12
benign
GRCh37/hg19 19q13.11-13.12(chr19:35043556-36316644) copy number loss not provided [RCV000767769] Chr19:35043556..36316644 [GRCh37]
Chr19:19q13.11-13.12
pathogenic
NM_001863.5(COX6B1):c.6G>A (p.Ala2=) single nucleotide variant not provided [RCV000904297] Chr19:35651249 [GRCh38]
Chr19:36142151 [GRCh37]
Chr19:19q13.12
likely benign
GRCh37/hg19 19q13.11-13.12(chr19:35111811-37744992) copy number loss Generalized epilepsy with febrile seizures plus, type 1 [RCV000767768] Chr19:35111811..37744992 [GRCh37]
Chr19:19q13.11-13.12
pathogenic
GRCh37/hg19 19q13.12(chr19:35613953-36183886)x1 copy number loss not provided [RCV000845987] Chr19:35613953..36183886 [GRCh37]
Chr19:19q13.12
uncertain significance
NM_001863.5(COX6B1):c.106+45G>A single nucleotide variant not provided [RCV000835512] Chr19:35651394 [GRCh38]
Chr19:36142296 [GRCh37]
Chr19:19q13.12
benign
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 copy number gain not provided [RCV000845733] Chr19:28271106..49213832 [GRCh37]
Chr19:19q11-13.33
pathogenic
NC_000019.9:g.(?_33167170)_(36643309_?)dup duplication Hereditary spastic paraplegia 75 [RCV003107659] Chr19:33167170..36643309 [GRCh37]
Chr19:19q13.11-13.12
uncertain significance
NC_000019.10:g.35658918del deletion not provided [RCV001552178] Chr19:35658905 [GRCh38]
Chr19:36149807 [GRCh37]
Chr19:19q13.12
likely benign
NC_000019.10:g.35658859A>G single nucleotide variant not provided [RCV001638613] Chr19:35658859 [GRCh38]
Chr19:36149761 [GRCh37]
Chr19:19q13.12
benign
NM_001863.5(COX6B1):c.107-49del deletion not provided [RCV001546812] Chr19:35654508 [GRCh38]
Chr19:36145410 [GRCh37]
Chr19:19q13.12
likely benign
NM_001863.5(COX6B1):c.-42G>A single nucleotide variant Mitochondrial complex IV deficiency, nuclear type 1 [RCV001123351] Chr19:35648373 [GRCh38]
Chr19:36139275 [GRCh37]
Chr19:19q13.12
uncertain significance
NM_001863.5(COX6B1):c.-11-96A>G single nucleotide variant not provided [RCV001545868] Chr19:35651137 [GRCh38]
Chr19:36142039 [GRCh37]
Chr19:19q13.12
likely benign
NM_001863.5(COX6B1):c.208-46C>T single nucleotide variant not provided [RCV001684916] Chr19:35658548 [GRCh38]
Chr19:36149450 [GRCh37]
Chr19:19q13.12
benign
NM_001863.5(COX6B1):c.102C>T (p.Tyr34=) single nucleotide variant Mitochondrial complex IV deficiency, nuclear type 1 [RCV001123352] Chr19:35651345 [GRCh38]
Chr19:36142247 [GRCh37]
Chr19:19q13.12
uncertain significance
Single allele deletion Dystonic disorder [RCV001003865] Chr19:35553425..36264299 [GRCh37]
Chr19:19q13.12
pathogenic
NM_001863.5(COX6B1):c.107-45G>A single nucleotide variant not provided [RCV001725539] Chr19:35654526 [GRCh38]
Chr19:36145428 [GRCh37]
Chr19:19q13.12
benign
NM_001863.5(COX6B1):c.212C>T (p.Thr71Ile) single nucleotide variant Mitochondrial complex 4 deficiency, nuclear type 7 [RCV002480496]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV001123353] Chr19:35658598 [GRCh38]
Chr19:36149500 [GRCh37]
Chr19:19q13.12
uncertain significance
GRCh37/hg19 19q13.12(chr19:36019064-36516110)x3 copy number gain not provided [RCV001833065] Chr19:36019064..36516110 [GRCh37]
Chr19:19q13.12
uncertain significance
GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3 copy number gain Specific learning disability [RCV001801194] Chr19:19546923..41313229 [GRCh37]
Chr19:19p13.11-q13.2
pathogenic
NC_000019.10:g.35658909T>A single nucleotide variant not provided [RCV001769613] Chr19:35658909 [GRCh38]
Chr19:36149811 [GRCh37]
Chr19:19q13.12
likely benign
NC_000019.10:g.35658908T>A single nucleotide variant not provided [RCV001776946] Chr19:35658908 [GRCh38]
Chr19:36149810 [GRCh37]
Chr19:19q13.12
likely benign
NC_000019.9:g.(?_35521725)_(36643309_?)del deletion Brugada syndrome 5 [RCV001910265] Chr19:35521725..36643309 [GRCh37]
Chr19:19q13.12
uncertain significance
NM_001863.5(COX6B1):c.250G>A (p.Gly84Arg) single nucleotide variant Inborn genetic diseases [RCV003303291]|not provided [RCV001892759] Chr19:35658636 [GRCh38]
Chr19:36149538 [GRCh37]
Chr19:19q13.12
uncertain significance
NM_001863.5(COX6B1):c.200C>T (p.Thr67Ile) single nucleotide variant Inborn genetic diseases [RCV003247112]|Mitochondrial complex 4 deficiency, nuclear type 7 [RCV002490151]|not provided [RCV001882248] Chr19:35654664 [GRCh38]
Chr19:36145566 [GRCh37]
Chr19:19q13.12
likely benign|uncertain significance
NM_001863.5(COX6B1):c.157G>A (p.Val53Met) single nucleotide variant Mitochondrial complex 4 deficiency, nuclear type 7 [RCV002489972]|not provided [RCV001870071] Chr19:35654621 [GRCh38]
Chr19:36145523 [GRCh37]
Chr19:19q13.12
uncertain significance
NM_001863.5(COX6B1):c.242C>T (p.Thr81Met) single nucleotide variant not provided [RCV001877068] Chr19:35658628 [GRCh38]
Chr19:36149530 [GRCh37]
Chr19:19q13.12
uncertain significance
NC_000019.9:g.(?_35521725)_(36229458_?)del deletion not provided [RCV001975081] Chr19:35521725..36229458 [GRCh37]
Chr19:19q13.12
pathogenic
NM_001863.5(COX6B1):c.106+11C>T single nucleotide variant not provided [RCV002104518] Chr19:35651360 [GRCh38]
Chr19:36142262 [GRCh37]
Chr19:19q13.12
likely benign
NM_001863.5(COX6B1):c.1A>G (p.Met1Val) single nucleotide variant not provided [RCV003116001] Chr19:35651244 [GRCh38]
Chr19:36142146 [GRCh37]
Chr19:19q13.12
uncertain significance
NM_001863.5(COX6B1):c.60C>T (p.Arg20=) single nucleotide variant not provided [RCV002993539] Chr19:35651303 [GRCh38]
Chr19:36142205 [GRCh37]
Chr19:19q13.12
likely benign
NM_001863.5(COX6B1):c.230G>T (p.Arg77Leu) single nucleotide variant not provided [RCV002690682] Chr19:35658616 [GRCh38]
Chr19:36149518 [GRCh37]
Chr19:19q13.12
uncertain significance
NM_001863.5(COX6B1):c.135C>T (p.Thr45=) single nucleotide variant not provided [RCV002694759] Chr19:35654599 [GRCh38]
Chr19:36145501 [GRCh37]
Chr19:19q13.12
likely benign
NM_001863.5(COX6B1):c.18G>C (p.Glu6Asp) single nucleotide variant not provided [RCV002659192] Chr19:35651261 [GRCh38]
Chr19:36142163 [GRCh37]
Chr19:19q13.12
uncertain significance
NM_001863.5(COX6B1):c.208-9T>C single nucleotide variant not provided [RCV002846924] Chr19:35658585 [GRCh38]
Chr19:36149487 [GRCh37]
Chr19:19q13.12
likely benign
NM_001863.5(COX6B1):c.130A>G (p.Met44Val) single nucleotide variant not provided [RCV002797329] Chr19:35654594 [GRCh38]
Chr19:36145496 [GRCh37]
Chr19:19q13.12
uncertain significance
NM_001863.5(COX6B1):c.235G>A (p.Glu79Lys) single nucleotide variant not provided [RCV002885720] Chr19:35658621 [GRCh38]
Chr19:36149523 [GRCh37]
Chr19:19q13.12
uncertain significance
NM_001863.5(COX6B1):c.207+20G>A single nucleotide variant not provided [RCV002626785] Chr19:35654691 [GRCh38]
Chr19:36145593 [GRCh37]
Chr19:19q13.12
likely benign
NM_001863.5(COX6B1):c.13A>C (p.Met5Leu) single nucleotide variant Inborn genetic diseases [RCV004068317]|not provided [RCV002967323] Chr19:35651256 [GRCh38]
Chr19:36142158 [GRCh37]
Chr19:19q13.12
uncertain significance
NM_001863.5(COX6B1):c.148G>A (p.Asp50Asn) single nucleotide variant not provided [RCV002646901] Chr19:35654612 [GRCh38]
Chr19:36145514 [GRCh37]
Chr19:19q13.12
uncertain significance
NM_001863.5(COX6B1):c.159G>T (p.Val53=) single nucleotide variant not provided [RCV002627564] Chr19:35654623 [GRCh38]
Chr19:36145525 [GRCh37]
Chr19:19q13.12
likely benign
NM_001863.5(COX6B1):c.163G>A (p.Glu55Lys) single nucleotide variant Inborn genetic diseases [RCV002965676]|not provided [RCV003720709] Chr19:35654627 [GRCh38]
Chr19:36145529 [GRCh37]
Chr19:19q13.12
uncertain significance
NM_001863.5(COX6B1):c.207+17A>C single nucleotide variant not provided [RCV002582973] Chr19:35654688 [GRCh38]
Chr19:36145590 [GRCh37]
Chr19:19q13.12
likely benign
NM_001863.5(COX6B1):c.207+19G>A single nucleotide variant not provided [RCV002612897] Chr19:35654690 [GRCh38]
Chr19:36145592 [GRCh37]
Chr19:19q13.12
likely benign
NM_001863.5(COX6B1):c.179T>C (p.Val60Ala) single nucleotide variant not provided [RCV002583258] Chr19:35654643 [GRCh38]
Chr19:36145545 [GRCh37]
Chr19:19q13.12
uncertain significance
Single allele deletion not provided [RCV003448708] Chr19:35225414..37357598 [GRCh37]
Chr19:19q13.11-13.12
pathogenic
NM_001863.5(COX6B1):c.126G>A (p.Lys42=) single nucleotide variant not provided [RCV003725248] Chr19:35654590 [GRCh38]
Chr19:36145492 [GRCh37]
Chr19:19q13.12
likely benign|conflicting interpretations of pathogenicity
NM_001863.5(COX6B1):c.106+13T>C single nucleotide variant not provided [RCV003551421] Chr19:35651362 [GRCh38]
Chr19:36142264 [GRCh37]
Chr19:19q13.12
likely benign
GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3 copy number gain not specified [RCV003986115] Chr19:28271146..41508851 [GRCh37]
Chr19:19q11-13.2
pathogenic
NM_001863.5(COX6B1):c.13A>G (p.Met5Val) single nucleotide variant not provided [RCV003722767] Chr19:35651256 [GRCh38]
Chr19:36142158 [GRCh37]
Chr19:19q13.12
uncertain significance
GRCh37/hg19 19q13.11-13.12(chr19:35223021-36895699)x1 copy number loss not provided [RCV004577477] Chr19:35223021..36895699 [GRCh37]
Chr19:19q13.11-13.12
pathogenic
NM_001863.5(COX6B1):c.91T>C (p.Trp31Arg) single nucleotide variant not provided [RCV004696827] Chr19:35651334 [GRCh38]
Chr19:36142236 [GRCh37]
Chr19:19q13.12
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1113
Count of miRNA genes:462
Interacting mature miRNAs:516
Transcripts:ENST00000246554, ENST00000392201, ENST00000590618, ENST00000592141
Prediction methods: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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1300034BP50_HBlood pressure QTL 50 (human)2.10.00094Blood pressuresystolic191108946337089463Human
1559110SCL22_HSerum cholesterol level QTL 22 (human)3.590.000241Lipid levelLDL cholesterol193190759457907594Human
597336380GWAS1432454_HC-reactive protein measurement QTL GWAS1432454 (human)3e-08C-reactive protein measurementblood C-reactive protein level (CMO:0003160)193565641335656414Human
597221743GWAS1317817_Hbody height QTL GWAS1317817 (human)2e-15body height (VT:0001253)body height (CMO:0000106)193565641335656414Human
1331657COPD9_HChronic obstructive pulmonary disease QTL 9 (human)1.94Chronic airflow obstructionpost-bronchodilator FEV1193102176057021760Human

Markers in Region
RH91816  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377148,751,153 - 148,751,330UniSTSGRCh37
Build 367148,382,086 - 148,382,263RGDNCBI36
Celera7143,420,955 - 143,421,132RGD
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map19q13.1UniSTS
HuRef7142,828,649 - 142,828,826UniSTS
CRA_TCAGchr7v27148,089,499 - 148,089,676UniSTS
GeneMap99-GB4 RH Map7675.32UniSTS
SHGC-30021  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371936,149,555 - 36,149,659UniSTSGRCh37
Build 361940,841,395 - 40,841,499RGDNCBI36
Celera1932,863,028 - 32,863,132RGD
Cytogenetic Map19q13.1UniSTS
HuRef1932,654,808 - 32,654,912UniSTS
TNG Radiation Hybrid Map1912905.0UniSTS
Stanford-G3 RH Map191526.0UniSTS
GeneMap99-GB4 RH Map19206.74UniSTS
Whitehead-RH Map19272.4UniSTS
NCBI RH Map19361.2UniSTS
GeneMap99-G3 RH Map191537.0UniSTS
RH18087  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.1UniSTS
GeneMap99-GB4 RH Map19214.24UniSTS
NCBI RH Map19387.9UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2432 2788 2245 4942 1723 2345 4 622 1948 464 2268 7281 6454 52 3708 847 1731 1612 171

Sequence


Ensembl Acc Id: ENST00000392201   ⟹   ENSP00000376037
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1935,648,825 - 35,658,726 (+)Ensembl
Ensembl Acc Id: ENST00000590618   ⟹   ENSP00000467776
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1935,651,245 - 35,658,778 (+)Ensembl
Ensembl Acc Id: ENST00000592141   ⟹   ENSP00000466818
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1935,648,640 - 35,658,782 (+)Ensembl
Ensembl Acc Id: ENST00000649813   ⟹   ENSP00000497926
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1935,648,323 - 35,658,782 (+)Ensembl
Ensembl Acc Id: ENST00000652250   ⟹   ENSP00000498883
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1935,650,621 - 35,654,626 (+)Ensembl
RefSeq Acc Id: NM_001863   ⟹   NP_001854
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381935,648,323 - 35,658,782 (+)NCBI
GRCh371936,139,125 - 36,149,686 (+)ENTREZGENE
Build 361940,830,995 - 40,841,524 (+)NCBI Archive
HuRef1932,644,378 - 32,654,939 (+)ENTREZGENE
CHM1_11936,140,657 - 36,151,217 (+)NCBI
T2T-CHM13v2.01938,193,302 - 38,203,762 (+)NCBI
Sequence:
RefSeq Acc Id: NP_001854   ⟸   NM_001863
- UniProtKB: B2R5C9 (UniProtKB/Swiss-Prot),   Q6IBL4 (UniProtKB/Swiss-Prot),   P14854 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000497926   ⟸   ENST00000649813
Ensembl Acc Id: ENSP00000498883   ⟸   ENST00000652250
Ensembl Acc Id: ENSP00000376037   ⟸   ENST00000392201
Ensembl Acc Id: ENSP00000467776   ⟸   ENST00000590618
Ensembl Acc Id: ENSP00000466818   ⟸   ENST00000592141
Protein Domains
CHCH

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P14854-F1-model_v2 AlphaFold P14854 1-86 view protein structure

Promoters
RGD ID:7239549
Promoter ID:EPDNEW_H25521
Type:initiation region
Name:COX6B1_2
Description:cytochrome c oxidase subunit 6B1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25522  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381935,643,650 - 35,643,710EPDNEW
RGD ID:7239551
Promoter ID:EPDNEW_H25522
Type:initiation region
Name:COX6B1_1
Description:cytochrome c oxidase subunit 6B1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25521  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381935,648,337 - 35,648,397EPDNEW
RGD ID:6795433
Promoter ID:HG_KWN:29669
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:ENST00000392201,   NM_001863
Position:
Human AssemblyChrPosition (strand)Source
Build 361940,830,781 - 40,831,281 (+)MPROMDB
RGD ID:6851874
Promoter ID:EP73743
Type:initiation region
Name:HS_COX6B
Description:Cytochrome c oxidase subunit VIb , nuclear gene encodingmitochondrial protein.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361940,831,094 - 40,831,154EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2280 AgrOrtholog
COSMIC COX6B1 COSMIC
Ensembl Genes ENSG00000126267 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000392201.1 UniProtKB/Swiss-Prot
  ENST00000590618.1 UniProtKB/TrEMBL
  ENST00000592141.6 UniProtKB/Swiss-Prot
  ENST00000649813 ENTREZGENE
  ENST00000649813.2 UniProtKB/Swiss-Prot
  ENST00000652250.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.10.140 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000126267 GTEx
HGNC ID HGNC:2280 ENTREZGENE
Human Proteome Map COX6B1 Human Proteome Map
InterPro COX6B-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyt_c_oxidase_su6B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyt_c_oxidase_su6B_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1340 UniProtKB/Swiss-Prot
NCBI Gene 1340 ENTREZGENE
OMIM 124089 OMIM
PANTHER CYTOCHROME C OXIDASE SUBUNIT 6B1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11387 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam COX6B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26797 PharmGKB
PIRSF Cyt_c_oxidase_6B UniProtKB/Swiss-Prot
PROSITE CHCH UniProtKB/Swiss-Prot
Superfamily-SCOP SSF47694 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A494C160_HUMAN UniProtKB/TrEMBL
  B2R5C9 ENTREZGENE
  CX6B1_HUMAN UniProtKB/Swiss-Prot
  K7EQD3_HUMAN UniProtKB/TrEMBL
  P14854 ENTREZGENE
  Q6IBL4 ENTREZGENE
UniProt Secondary B2R5C9 UniProtKB/Swiss-Prot
  Q6IBL4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-16 COX6B1  cytochrome c oxidase subunit 6B1  COX6B1  cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)  Symbol and/or name change 5135510 APPROVED
2011-07-27 COX6B1  cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)  COX6B1  cytochrome c oxidase subunit Vib polypeptide 1 (ubiquitous)  Symbol and/or name change 5135510 APPROVED