COX6C (cytochrome c oxidase subunit 6C) - Rat Genome Database

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Gene: COX6C (cytochrome c oxidase subunit 6C) Homo sapiens
Analyze
Symbol: COX6C
Name: cytochrome c oxidase subunit 6C
RGD ID: 736850
HGNC Page HGNC
Description: Predicted to have cytochrome-c oxidase activity. Predicted to be involved in mitochondrial electron transport, cytochrome c to oxygen. Localizes to mitochondrion.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: cytochrome c oxidase polypeptide VIc; cytochrome c oxidase subunit VIc preprotein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: COX6CP1   COX6CP10   COX6CP11   COX6CP12   COX6CP13   COX6CP14   COX6CP15   COX6CP16   COX6CP17   COX6CP18   COX6CP2   COX6CP3   COX6CP4   COX6CP5   COX6CP6   COX6CP7   COX6CP8   COX6CP9  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl899,873,200 - 99,893,707 (-)EnsemblGRCh38hg38GRCh38
GRCh38899,877,865 - 99,893,707 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378100,890,093 - 100,905,935 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368100,959,548 - 100,975,071 (-)NCBINCBI36hg18NCBI36
Build 348100,959,547 - 100,975,071NCBI
Celera897,076,023 - 97,092,041 (-)NCBI
Cytogenetic Map8q22.2NCBI
HuRef896,092,853 - 96,108,871 (-)NCBIHuRef
CHM1_18100,931,004 - 100,947,023 (-)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
References

Additional References at PubMed
PMID:2849755   PMID:8705997   PMID:9752724   PMID:9930743   PMID:10072584   PMID:12477932   PMID:15489334   PMID:16169070   PMID:17353931   PMID:17500595   PMID:17516841   PMID:19064571  
PMID:19843159   PMID:20195357   PMID:20877624   PMID:21988832   PMID:22419111   PMID:22860893   PMID:24344204   PMID:25203353   PMID:25544563   PMID:26496610   PMID:27173435   PMID:27499296  
PMID:28700943   PMID:29505834   PMID:29509794   PMID:29568061   PMID:30033366   PMID:30097533   PMID:31536960   PMID:31586073   PMID:31617661   PMID:31980649   PMID:32296183   PMID:32814053  
PMID:32877691   PMID:33144569  


Genomics

Comparative Map Data
COX6C
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl899,873,200 - 99,893,707 (-)EnsemblGRCh38hg38GRCh38
GRCh38899,877,865 - 99,893,707 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378100,890,093 - 100,905,935 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368100,959,548 - 100,975,071 (-)NCBINCBI36hg18NCBI36
Build 348100,959,547 - 100,975,071NCBI
Celera897,076,023 - 97,092,041 (-)NCBI
Cytogenetic Map8q22.2NCBI
HuRef896,092,853 - 96,108,871 (-)NCBIHuRef
CHM1_18100,931,004 - 100,947,023 (-)NCBICHM1_1
Cox6c
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391535,932,122 - 35,938,392 (-)NCBIGRCm39mm39
GRCm39 Ensembl1535,926,032 - 35,938,392 (-)Ensembl
GRCm381535,931,976 - 35,938,246 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1535,925,886 - 35,938,246 (-)EnsemblGRCm38mm10GRCm38
MGSCv371535,861,731 - 35,868,001 (-)NCBIGRCm37mm9NCBIm37
MGSCv361535,876,565 - 35,882,835 (-)NCBImm8
Celera1536,558,001 - 36,564,267 (-)NCBICelera
Cytogenetic Map15B3.1NCBI
Cox6c
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2767,129,265 - 67,142,001 (-)NCBI
Rnor_6.0 Ensembl774,723,179 - 74,735,650 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0774,723,177 - 74,735,650 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0774,880,032 - 74,892,505 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4771,465,790 - 71,478,524 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1771,486,526 - 71,498,346 (-)NCBI
Celera764,212,107 - 64,224,807 (-)NCBICelera
Cytogenetic Map7q22NCBI
LOC102014046
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541715,230,562 - 15,241,610 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541715,230,562 - 15,241,610 (-)NCBIChiLan1.0ChiLan1.0
LOC100994763
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1898,700,722 - 98,716,662 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl898,700,724 - 98,716,662 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0896,525,872 - 96,541,578 (-)NCBIMhudiblu_PPA_v0panPan3
LOC101970194
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530335,843,593 - 35,854,787 (+)NCBI
SpeTri2.0NW_00493647043,269,744 - 43,280,886 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
COX6C
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1437,074,619 - 37,089,364 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2439,990,984 - 40,005,771 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LOC103237200
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1894,737,674 - 94,753,239 (-)NCBI
Vero_WHO_p1.0NW_02366603945,937,277 - 45,957,667 (+)NCBI
LOC101716380
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247636,867,602 - 6,877,864 (-)NCBI

Position Markers
STS-N66159  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378100,890,099 - 100,890,255UniSTSGRCh37
Build 368100,959,275 - 100,959,431RGDNCBI36
Celera897,075,899 - 97,076,055RGD
Cytogenetic Map8q22.2UniSTS
HuRef896,092,729 - 96,092,885UniSTS
GeneMap99-GB4 RH Map8437.68UniSTS
NCBI RH Map81110.1UniSTS
RH79007  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378100,890,190 - 100,890,352UniSTSGRCh37
Build 368100,959,366 - 100,959,528RGDNCBI36
Celera897,075,990 - 97,076,152RGD
Cytogenetic Map8q22.2UniSTS
HuRef896,092,820 - 96,092,982UniSTS
GeneMap99-GB4 RH Map8439.2UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:935
Count of miRNA genes:505
Interacting mature miRNAs:543
Transcripts:ENST00000297564, ENST00000517682, ENST00000518171, ENST00000520271, ENST00000520468, ENST00000520517, ENST00000522934, ENST00000522940, ENST00000523016, ENST00000524245, ENST00000606245
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.


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 23
Medium 2439 2280 1725 623 1254 464 4357 2181 3733 418 1437 1613 175 1 1204 2788 6 2
Low 711 1 1 697 1 16 1 1
Below cutoff

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000297564   ⟹   ENSP00000297564
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl899,878,148 - 99,893,684 (-)Ensembl
RefSeq Acc Id: ENST00000517682   ⟹   ENSP00000429714
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl899,878,149 - 99,893,681 (-)Ensembl
RefSeq Acc Id: ENST00000518171   ⟹   ENSP00000429755
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl899,885,992 - 99,893,697 (-)Ensembl
RefSeq Acc Id: ENST00000520271   ⟹   ENSP00000428150
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl899,878,149 - 99,893,622 (-)Ensembl
RefSeq Acc Id: ENST00000520468   ⟹   ENSP00000428895
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl899,877,865 - 99,893,707 (-)Ensembl
RefSeq Acc Id: ENST00000520517   ⟹   ENSP00000429991
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl899,874,996 - 99,893,707 (-)Ensembl
RefSeq Acc Id: ENST00000522934   ⟹   ENSP00000428702
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl899,873,200 - 99,893,706 (-)Ensembl
RefSeq Acc Id: ENST00000522940   ⟹   ENSP00000428965
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl899,878,151 - 99,893,623 (-)Ensembl
RefSeq Acc Id: ENST00000523016   ⟹   ENSP00000429707
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl899,887,061 - 99,893,680 (-)Ensembl
RefSeq Acc Id: ENST00000524245   ⟹   ENSP00000429410
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl899,878,150 - 99,893,135 (-)Ensembl
RefSeq Acc Id: ENST00000606245
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl899,878,149 - 99,878,794 (-)Ensembl
RefSeq Acc Id: NM_004374   ⟹   NP_004365
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38899,877,865 - 99,893,707 (-)NCBI
GRCh378100,890,223 - 100,906,242 (-)RGD
Build 368100,959,548 - 100,975,071 (-)NCBI Archive
Celera897,076,023 - 97,092,041 (-)RGD
HuRef896,092,853 - 96,108,871 (-)RGD
CHM1_18100,931,004 - 100,947,023 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013020   ⟹   XP_016868509
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38899,878,142 - 99,893,624 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_004365   ⟸   NM_004374
- UniProtKB: P09669 (UniProtKB/Swiss-Prot),   A0A024R9B7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016868509   ⟸   XM_017013020
- Peptide Label: isoform X1
- UniProtKB: P09669 (UniProtKB/Swiss-Prot),   A0A024R9B7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000429714   ⟸   ENST00000517682
RefSeq Acc Id: ENSP00000429755   ⟸   ENST00000518171
RefSeq Acc Id: ENSP00000297564   ⟸   ENST00000297564
RefSeq Acc Id: ENSP00000428895   ⟸   ENST00000520468
RefSeq Acc Id: ENSP00000428150   ⟸   ENST00000520271
RefSeq Acc Id: ENSP00000429991   ⟸   ENST00000520517
RefSeq Acc Id: ENSP00000428702   ⟸   ENST00000522934
RefSeq Acc Id: ENSP00000428965   ⟸   ENST00000522940
RefSeq Acc Id: ENSP00000429707   ⟸   ENST00000523016
RefSeq Acc Id: ENSP00000429410   ⟸   ENST00000524245
Protein Domains
COX6C

Promoters
RGD ID:7213879
Promoter ID:EPDNEW_H12686
Type:initiation region
Name:COX6C_1
Description:cytochrome c oxidase subunit 6C
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38899,893,681 - 99,893,741EPDNEW
RGD ID:6806573
Promoter ID:HG_KWN:61796
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_004374
Position:
Human AssemblyChrPosition (strand)Source
Build 368100,974,651 - 100,975,151 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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(chr8:241530-145054634)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 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 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 8q22.2-22.3(chr8:99580206-101547228)x1 copy number loss See cases [RCV000137322] Chr8:99580206..101547228 [GRCh38]
Chr8:100592434..102559456 [GRCh37]
Chr8:100661610..102628632 [NCBI36]
Chr8:8q22.2-22.3
likely 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 8q21.3-24.3(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 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 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
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 8q22.2(chr8:99055243-99917250)x1 copy number loss See cases [RCV000142353] Chr8:99055243..99917250 [GRCh38]
Chr8:100067471..100929478 [GRCh37]
Chr8:100136647..100998654 [NCBI36]
Chr8:8q22.2
uncertain significance
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
GRCh37/hg19 8q22.2(chr8:100871620-101253185)x3 copy number gain Ductal breast carcinoma [RCV000207177] Chr8:100871620..101253185 [GRCh37]
Chr8:8q22.2
uncertain significance
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
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
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 8q22.2(chr8:100604182-100923847)x1 copy number loss See cases [RCV000511046] Chr8:100604182..100923847 [GRCh37]
Chr8:8q22.2
likely benign
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
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 8q22.2-22.3(chr8:100551211-103676738)x1 copy number loss not provided [RCV000683023] Chr8:100551211..103676738 [GRCh37]
Chr8:8q22.2-22.3
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 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 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(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.2(chr8:100791383-101278033)x3 copy number gain not provided [RCV001006126] Chr8:100791383..101278033 [GRCh37]
Chr8:8q22.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2285 AgrOrtholog
COSMIC COX6C COSMIC
Ensembl Genes ENSG00000164919 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000297564 UniProtKB/Swiss-Prot
  ENSP00000428150 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000428702 UniProtKB/Swiss-Prot
  ENSP00000428895 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000428965 UniProtKB/Swiss-Prot
  ENSP00000429410 UniProtKB/Swiss-Prot
  ENSP00000429707 UniProtKB/Swiss-Prot
  ENSP00000429714 UniProtKB/Swiss-Prot
  ENSP00000429755 UniProtKB/Swiss-Prot
  ENSP00000429991 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000297564 UniProtKB/Swiss-Prot
  ENST00000517682 UniProtKB/Swiss-Prot
  ENST00000518171 UniProtKB/Swiss-Prot
  ENST00000520271 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000520468 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000520517 UniProtKB/Swiss-Prot
  ENST00000522934 UniProtKB/Swiss-Prot
  ENST00000522940 UniProtKB/Swiss-Prot
  ENST00000523016 UniProtKB/Swiss-Prot
  ENST00000524245 UniProtKB/Swiss-Prot
Gene3D-CATH 4.10.93.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000164919 GTEx
HGNC ID HGNC:2285 ENTREZGENE
Human Proteome Map COX6C Human Proteome Map
InterPro COX6C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cytochrome_c_oxidase_VIc/VIIs UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cytochrome_c_oxidase_VIc_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1345 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 1345 ENTREZGENE
OMIM 124090 OMIM
Pfam COX6C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26802 PharmGKB
Superfamily-SCOP SSF81415 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R9B7 ENTREZGENE, UniProtKB/TrEMBL
  COX6C_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B2R4D7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-16 COX6C  cytochrome c oxidase subunit 6C    cytochrome c oxidase subunit VIc  Symbol and/or name change 5135510 APPROVED