COA6 (cytochrome c oxidase assembly factor 6) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: COA6 (cytochrome c oxidase assembly factor 6) Homo sapiens
Analyze
Symbol: COA6
Name: cytochrome c oxidase assembly factor 6
RGD ID: 1352912
HGNC Page HGNC
Description: Enables copper ion binding activity. Involved in mitochondrial ATP synthesis coupled electron transport; plasma membrane ATP synthesis coupled electron transport; and respiratory chain complex IV assembly. Located in mitochondrial intermembrane space and nucleoplasm. Implicated in fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: C1orf31; CEMCOX4; cytochrome c oxidase assembly factor 6 homolog; hypothetical protein LOC388753; MC4DN13; uncharacterized protein C1orf31
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1234,373,456 - 234,385,080 (+)EnsemblGRCh38hg38GRCh38
GRCh381234,373,456 - 234,385,080 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371234,509,202 - 234,520,826 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361232,576,052 - 232,586,414 (+)NCBINCBI36hg18NCBI36
Celera1207,780,333 - 207,790,700 (+)NCBI
Cytogenetic Map1q42.2NCBI
HuRef1205,002,255 - 205,012,839 (+)NCBIHuRef
CHM1_11235,781,494 - 235,792,155 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:11076863   PMID:11329013   PMID:12477932   PMID:15489334   PMID:15489336   PMID:16381901   PMID:16710414   PMID:16712791   PMID:20877624   PMID:22277967   PMID:22356826   PMID:22658674  
PMID:22939629   PMID:22984289   PMID:24549041   PMID:25339201   PMID:25959673   PMID:26160915   PMID:28007894   PMID:28330871   PMID:29154948   PMID:29381136   PMID:29568061   PMID:29791485  
PMID:31515291   PMID:31536960   PMID:31851937   PMID:32061935   PMID:32296183   PMID:32694731   PMID:32913203   PMID:32977416  


Genomics

Comparative Map Data
COA6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1234,373,456 - 234,385,080 (+)EnsemblGRCh38hg38GRCh38
GRCh381234,373,456 - 234,385,080 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371234,509,202 - 234,520,826 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361232,576,052 - 232,586,414 (+)NCBINCBI36hg18NCBI36
Celera1207,780,333 - 207,790,700 (+)NCBI
Cytogenetic Map1q42.2NCBI
HuRef1205,002,255 - 205,012,839 (+)NCBIHuRef
CHM1_11235,781,494 - 235,792,155 (+)NCBICHM1_1
Coa6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm398127,149,240 - 127,152,174 (+)NCBIGRCm39mm39
GRCm39 Ensembl8127,149,254 - 127,152,172 (+)Ensembl
GRCm388126,422,501 - 126,425,435 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl8126,422,515 - 126,425,433 (+)EnsemblGRCm38mm10GRCm38
MGSCv378128,946,401 - 128,949,335 (+)NCBIGRCm37mm9NCBIm37
MGSCv368129,308,618 - 129,311,524 (+)NCBImm8
Celera8130,729,516 - 130,733,949 (+)NCBICelera
Cytogenetic Map8E2NCBI
Coa6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21954,395,682 - 54,398,918 (+)NCBImRatBN7.2
Rnor_6.01959,327,328 - 59,333,706 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1959,328,960 - 59,331,192 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01970,007,574 - 70,012,729 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera1953,749,521 - 53,753,539 (+)NCBICelera
Cytogenetic Map19q12NCBI
LOC102028200
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554925,316,594 - 5,324,913 (-)NCBIChiLan1.0ChiLan1.0
LOC100973340
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11214,935,609 - 214,944,496 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1214,934,998 - 214,944,496 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01209,913,610 - 209,914,929 (+)NCBIMhudiblu_PPA_v0panPan3
COA6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.145,447,252 - 5,454,500 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl45,447,249 - 5,454,456 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha45,426,137 - 5,434,318 (-)NCBI
ROS_Cfam_1.045,464,242 - 5,472,425 (-)NCBI
UMICH_Zoey_3.145,476,834 - 5,485,012 (-)NCBI
UNSW_CanFamBas_1.045,595,299 - 5,602,555 (-)NCBI
UU_Cfam_GSD_1.045,817,161 - 5,825,343 (-)NCBI
LOC101966578
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934441,646,576 - 41,650,580 (-)NCBI
SpeTri2.0NW_00493648417,812,157 - 17,815,837 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
COA6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.11456,751,142 - 56,758,956 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21460,803,286 - 60,811,104 (-)NCBISscrofa10.2Sscrofa10.2susScr3
COA6
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12571,550,057 - 71,561,012 (+)NCBI
ChlSab1.1 Ensembl2571,550,617 - 71,560,786 (+)Ensembl
Vero_WHO_p1.0NW_02366605573,574,625 - 73,586,002 (+)NCBI
LOC101702099
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462477515,942,940 - 15,945,964 (-)NCBI

Position Markers
SHGC-76538  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371234,513,777 - 234,513,926UniSTSGRCh37
Build 361232,580,400 - 232,580,549RGDNCBI36
Celera1207,784,678 - 207,784,827RGD
Cytogenetic Map1q42.2UniSTS
HuRef1205,006,813 - 205,006,962UniSTS
TNG Radiation Hybrid Map1118676.0UniSTS
GeneMap99-GB4 RH Map1740.69UniSTS
GeneMap99-GB4 RH Map1740.49UniSTS
Whitehead-RH Map1910.4UniSTS
RH103199  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371234,508,729 - 234,508,808UniSTSGRCh37
Build 361232,575,352 - 232,575,431RGDNCBI36
Celera1207,779,633 - 207,779,712RGD
Cytogenetic Map1q42.2UniSTS
HuRef1205,001,770 - 205,001,849UniSTS
GeneMap99-GB4 RH Map1740.49UniSTS
SHGC-76585  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371234,519,506 - 234,519,630UniSTSGRCh37
Build 361232,586,129 - 232,586,253RGDNCBI36
Celera1207,790,415 - 207,790,539RGD
Cytogenetic Map1q42.2UniSTS
HuRef1205,012,550 - 205,012,674UniSTS
TNG Radiation Hybrid Map1118668.0UniSTS
GeneMap99-GB4 RH Map1745.18UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:127
Count of miRNA genes:42
Interacting mature miRNAs:43
Transcripts:ENST00000366612, ENST00000366613, ENST00000366615
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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
Medium 2167 1550 1483 445 1205 329 3221 1852 3248 389 1095 1384 128 1024 2036 3
Low 271 1438 243 178 742 136 1135 343 482 30 360 227 46 1 180 752 2 1
Below cutoff 3 3 1 3 5 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000366612   ⟹   ENSP00000355571
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1234,373,701 - 234,384,046 (+)Ensembl
RefSeq Acc Id: ENST00000366613   ⟹   ENSP00000355572
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1234,373,683 - 234,384,045 (+)Ensembl
RefSeq Acc Id: ENST00000366615   ⟹   ENSP00000355574
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1234,373,456 - 234,385,080 (+)Ensembl
RefSeq Acc Id: ENST00000619305   ⟹   ENSP00000479686
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1234,373,468 - 234,384,048 (+)Ensembl
RefSeq Acc Id: NM_001012985   ⟹   NP_001013003
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381234,373,683 - 234,384,049 (+)NCBI
GRCh371234,508,932 - 234,519,795 (+)NCBI
Build 361232,576,052 - 232,586,414 (+)NCBI Archive
Celera1207,780,333 - 207,790,700 (+)RGD
HuRef1205,002,255 - 205,012,839 (+)ENTREZGENE
CHM1_11235,781,709 - 235,792,155 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001206641   ⟹   NP_001193570
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381234,373,456 - 234,385,080 (+)NCBI
GRCh371234,508,932 - 234,519,795 (+)NCBI
HuRef1205,002,255 - 205,012,839 (+)ENTREZGENE
CHM1_11235,781,463 - 235,792,155 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001301733   ⟹   NP_001288662
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381234,373,701 - 234,384,049 (+)NCBI
CHM1_11235,781,727 - 235,792,155 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001013003   ⟸   NM_001012985
- Peptide Label: isoform 1
- UniProtKB: Q5JTJ3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001193570   ⟸   NM_001206641
- Peptide Label: isoform 2
- UniProtKB: X6R5Z6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001288662   ⟸   NM_001301733
- Peptide Label: isoform 3
- UniProtKB: Q5JTJ3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000355574   ⟸   ENST00000366615
RefSeq Acc Id: ENSP00000355571   ⟸   ENST00000366612
RefSeq Acc Id: ENSP00000355572   ⟸   ENST00000366613
RefSeq Acc Id: ENSP00000479686   ⟸   ENST00000619305
Protein Domains
CHCH

Promoters
RGD ID:6785344
Promoter ID:HG_KWN:7884
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000366612,   NM_001012985,   OTTHUMT00000092612
Position:
Human AssemblyChrPosition (strand)Source
Build 361232,575,026 - 232,576,147 (+)MPROMDB
RGD ID:6859310
Promoter ID:EPDNEW_H2819
Type:initiation region
Name:COA6_1
Description:cytochrome c oxidase assembly factor 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2818  EPDNEW_H2820  EPDNEW_H2821  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381234,373,516 - 234,373,576EPDNEW
RGD ID:6859312
Promoter ID:EPDNEW_H2820
Type:initiation region
Name:COA6_2
Description:cytochrome c oxidase assembly factor 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2818  EPDNEW_H2819  EPDNEW_H2821  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381234,373,748 - 234,373,808EPDNEW
RGD ID:6859460
Promoter ID:EPDNEW_H2821
Type:multiple initiation site
Name:COA6_3
Description:cytochrome c oxidase assembly factor 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2818  EPDNEW_H2819  EPDNEW_H2820  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381234,374,222 - 234,374,282EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 copy number gain See cases [RCV000050981] Chr1:214023812..248918469 [GRCh38]
Chr1:214197155..249212668 [GRCh37]
Chr1:212263778..247179291 [NCBI36]
Chr1:1q32.3-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3 copy number gain See cases [RCV000050581] Chr1:223347693..248918469 [GRCh38]
Chr1:223521035..249212668 [GRCh37]
Chr1:221587658..247179291 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1 copy number loss See cases [RCV000051082] Chr1:230106271..243677283 [GRCh38]
Chr1:230242018..243840585 [GRCh37]
Chr1:228308641..241907208 [NCBI36]
Chr1:1q42.13-44
pathogenic
GRCh38/hg38 1q41-44(chr1:221902539-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|See cases [RCV000051875] Chr1:221902539..248918469 [GRCh38]
Chr1:222075881..249212668 [GRCh37]
Chr1:220142504..247179291 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3 copy number gain See cases [RCV000051878] Chr1:223828500..248891309 [GRCh38]
Chr1:224016202..249185508 [GRCh37]
Chr1:222082825..247152131 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3 copy number gain See cases [RCV000051880] Chr1:223887780..248891309 [GRCh38]
Chr1:224075482..249185508 [GRCh37]
Chr1:222142105..247152131 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3 copy number gain See cases [RCV000051882] Chr1:224096488..248918469 [GRCh38]
Chr1:224284190..249212668 [GRCh37]
Chr1:222350813..247179291 [NCBI36]
Chr1:1q42.11-44
pathogenic
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 copy number gain See cases [RCV000051861] Chr1:209646207..248931113 [GRCh38]
Chr1:209819552..249225312 [GRCh37]
Chr1:207886175..247191935 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q42.2-44(chr1:232097468-248918610)x1 copy number loss See cases [RCV000053985] Chr1:232097468..248918610 [GRCh38]
Chr1:232233214..249212809 [GRCh37]
Chr1:230299837..247179432 [NCBI36]
Chr1:1q42.2-44
pathogenic
GRCh38/hg38 1q42.2-43(chr1:233486559-239971543)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053986]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053986]|See cases [RCV000053986] Chr1:233486559..239971543 [GRCh38]
Chr1:233622305..240134843 [GRCh37]
Chr1:231688928..238201466 [NCBI36]
Chr1:1q42.2-43
pathogenic
NM_001206641.3(COA6):c.90G>A (p.Glu30=) single nucleotide variant not specified [RCV000603008] Chr1:234373556 [GRCh38]
Chr1:234509302 [GRCh37]
Chr1:1q42.2
likely benign
NM_001206641.3(COA6):c.267G>C (p.Trp89Cys) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 [RCV000133543] Chr1:234374284 [GRCh38]
Chr1:234510030 [GRCh37]
Chr1:1q42.2
pathogenic|uncertain significance
NM_001206641.3(COA6):c.349G>T (p.Glu117Ter) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 [RCV000133544] Chr1:234374366 [GRCh38]
Chr1:234510112 [GRCh37]
Chr1:1q42.2
pathogenic|uncertain significance
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 copy number gain See cases [RCV000134979] Chr1:209963625..248918469 [GRCh38]
Chr1:210136970..249212668 [GRCh37]
Chr1:208203593..247179291 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3 copy number gain See cases [RCV000135839] Chr1:223815147..248918469 [GRCh38]
Chr1:224002849..249212668 [GRCh37]
Chr1:222069472..247179291 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3 copy number gain See cases [RCV000136666] Chr1:229022909..248918469 [GRCh38]
Chr1:229158656..249212668 [GRCh37]
Chr1:227225279..247179291 [NCBI36]
Chr1:1q42.13-44
pathogenic
GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3 copy number gain See cases [RCV000137769] Chr1:224022862..248918469 [GRCh38]
Chr1:224210564..249212668 [GRCh37]
Chr1:222277187..247179291 [NCBI36]
Chr1:1q42.11-44
pathogenic
GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3 copy number gain See cases [RCV000142448] Chr1:225438480..248787200 [GRCh38]
Chr1:225626182..249060210 [GRCh37]
Chr1:223692805..247048022 [NCBI36]
Chr1:1q42.12-44
pathogenic
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 copy number gain See cases [RCV000143727] Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q42.2-42.3(chr1:234147274-235184361)x1 copy number loss See cases [RCV000143613] Chr1:234147274..235184361 [GRCh38]
Chr1:234283020..235347676 [GRCh37]
Chr1:232349643..233414299 [NCBI36]
Chr1:1q42.2-42.3
uncertain significance
NM_001206641.3(COA6):c.286T>C (p.Trp96Arg) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 [RCV000186606] Chr1:234374303 [GRCh38]
Chr1:234510049 [GRCh37]
Chr1:1q42.2
pathogenic
NM_001206641.3(COA6):c.-11A>G single nucleotide variant not specified [RCV000605487] Chr1:234373456 [GRCh38]
Chr1:234509202 [GRCh37]
Chr1:1q42.2
likely benign
GRCh37/hg19 1q42.2-44(chr1:234050864-249213059)x3 copy number gain See cases [RCV000240034] Chr1:234050864..249213059 [GRCh37]
Chr1:1q42.2-44
pathogenic
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44
pathogenic
GRCh37/hg19 1q41-44(chr1:214697099-249224684)x3 copy number gain See cases [RCV000449210] Chr1:214697099..249224684 [GRCh37]
Chr1:1q41-44
pathogenic
GRCh37/hg19 1q42.2-44(chr1:231670870-249213000)x3 copy number gain See cases [RCV000447654] Chr1:231670870..249213000 [GRCh37]
Chr1:1q42.2-44
pathogenic
NM_001206641.3(COA6):c.47G>C (p.Ser16Thr) single nucleotide variant not specified [RCV000423818] Chr1:234373513 [GRCh38]
Chr1:234509259 [GRCh37]
Chr1:1q42.2
benign
NM_001206641.3(COA6):c.212+76C>A single nucleotide variant not specified [RCV000432122] Chr1:234373754 [GRCh38]
Chr1:234509500 [GRCh37]
Chr1:1q42.2
likely benign
NM_001206641.3(COA6):c.213-4A>G single nucleotide variant not provided [RCV000676949]|not specified [RCV000439991] Chr1:234374226 [GRCh38]
Chr1:234509972 [GRCh37]
Chr1:1q42.2
benign
NM_001206641.3(COA6):c.212+144C>G single nucleotide variant not provided [RCV000957523]|not specified [RCV000430076] Chr1:234373822 [GRCh38]
Chr1:234509568 [GRCh37]
Chr1:1q42.2
benign|likely benign
GRCh37/hg19 1q42.2-43(chr1:232226609-241010904)x1 copy number loss See cases [RCV000447936] Chr1:232226609..241010904 [GRCh37]
Chr1:1q42.2-43
pathogenic
NM_001206641.3(COA6):c.373-8dup duplication not specified [RCV000484744] Chr1:234383706..234383707 [GRCh38]
Chr1:234519452..234519453 [GRCh37]
Chr1:1q42.2
benign
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3 copy number gain See cases [RCV000510981] Chr1:224105294..249224684 [GRCh37]
Chr1:1q42.11-44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_001206641.3(COA6):c.191C>G (p.Ala64Gly) single nucleotide variant not specified [RCV000599904] Chr1:234373657 [GRCh38]
Chr1:234509403 [GRCh37]
Chr1:1q42.2
benign
NM_001206641.3(COA6):c.212+29C>T single nucleotide variant not specified [RCV000610305] Chr1:234373707 [GRCh38]
Chr1:234509453 [GRCh37]
Chr1:1q42.2
likely benign
NM_001206641.3(COA6):c.373-19T>A single nucleotide variant not specified [RCV000613126] Chr1:234383704 [GRCh38]
Chr1:234519450 [GRCh37]
Chr1:1q42.2
benign
NM_001206641.3(COA6):c.72T>C (p.Ser24=) single nucleotide variant not specified [RCV000616217] Chr1:234373538 [GRCh38]
Chr1:234509284 [GRCh37]
Chr1:1q42.2
likely benign
NM_001206641.3(COA6):c.212+154A>G single nucleotide variant not specified [RCV000614309] Chr1:234373832 [GRCh38]
Chr1:234509578 [GRCh37]
Chr1:1q42.2
likely benign
NM_001206641.3(COA6):c.212+162G>A single nucleotide variant not provided [RCV000955892]|not specified [RCV000609288] Chr1:234373840 [GRCh38]
Chr1:234509586 [GRCh37]
Chr1:1q42.2
benign|likely benign
NM_001206641.3(COA6):c.248A>G (p.Lys83Arg) single nucleotide variant not provided [RCV000676950] Chr1:234374265 [GRCh38]
Chr1:234510011 [GRCh37]
Chr1:1q42.2
uncertain significance
GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3 copy number gain not provided [RCV000684700] Chr1:218252551..249224684 [GRCh37]
Chr1:1q41-44
pathogenic
GRCh37/hg19 1q42.13-44(chr1:228529973-249181598)x3 copy number gain not provided [RCV000684707] Chr1:228529973..249181598 [GRCh37]
Chr1:1q42.13-44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q42.2-44(chr1:232232335-249218992)x3 copy number gain not provided [RCV000749394] Chr1:232232335..249218992 [GRCh37]
Chr1:1q42.2-44
pathogenic
GRCh37/hg19 1q42.2(chr1:234392804-234613331)x3 copy number gain not provided [RCV000736900] Chr1:234392804..234613331 [GRCh37]
Chr1:1q42.2
benign
GRCh37/hg19 1q42.2(chr1:234393176-234614268)x3 copy number gain not provided [RCV000736901] Chr1:234393176..234614268 [GRCh37]
Chr1:1q42.2
benign
GRCh37/hg19 1q41-42.2(chr1:223653722-234591807)x1 copy number loss not provided [RCV001005180] Chr1:223653722..234591807 [GRCh37]
Chr1:1q41-42.2
pathogenic
NM_001012985.2(COA6):c.-509A>C single nucleotide variant not provided [RCV000843649] Chr1:234373210 [GRCh38]
Chr1:234508956 [GRCh37]
Chr1:1q42.2
benign
GRCh37/hg19 1q42.2(chr1:234491689-234518218)x1 copy number loss not provided [RCV000846951] Chr1:234491689..234518218 [GRCh37]
Chr1:1q42.2
uncertain significance
NM_001012985.2(COA6):c.-613T>A single nucleotide variant not provided [RCV000831855] Chr1:234373106 [GRCh38]
Chr1:234508852 [GRCh37]
Chr1:1q42.2
likely benign
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 copy number gain See cases [RCV001194578] Chr1:210152794..249218992 [GRCh37]
Chr1:1q32.2-44
pathogenic
GRCh37/hg19 1q42.2(chr1:234479682-234518218)x1 copy number loss not provided [RCV000849212] Chr1:234479682..234518218 [GRCh37]
Chr1:1q42.2
uncertain significance
GRCh37/hg19 1q42.2(chr1:234479682-234518218)x1 copy number loss not provided [RCV000847519] Chr1:234479682..234518218 [GRCh37]
Chr1:1q42.2
uncertain significance
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44
pathogenic
GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3 copy number gain not provided [RCV001005175] Chr1:219916966..239004378 [GRCh37]
Chr1:1q41-43
pathogenic
NM_001206641.3(COA6):c.213-102_213-101del deletion not provided [RCV001568638] Chr1:234374113..234374114 [GRCh38]
Chr1:234509859..234509860 [GRCh37]
Chr1:1q42.2
likely benign
NM_001206641.3(COA6):c.213-105T>G single nucleotide variant not provided [RCV001551857] Chr1:234374125 [GRCh38]
Chr1:234509871 [GRCh37]
Chr1:1q42.2
likely benign
GRCh37/hg19 1q42.13-43(chr1:228832737-240993877)x3 copy number gain not provided [RCV001005187] Chr1:228832737..240993877 [GRCh37]
Chr1:1q42.13-43
pathogenic
GRCh37/hg19 1q42.2-43(chr1:233843930-237971511)x1 copy number loss not provided [RCV001005193] Chr1:233843930..237971511 [GRCh37]
Chr1:1q42.2-43
pathogenic
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44
pathogenic
GRCh37/hg19 1q42.2-43(chr1:231407943-237289859)x1 copy number loss not provided [RCV001537901] Chr1:231407943..237289859 [GRCh37]
Chr1:1q42.2-43
pathogenic
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18025 AgrOrtholog
COSMIC COA6 COSMIC
Ensembl Genes ENSG00000168275 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000355571 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000355572 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000355574 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000479686 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000366612 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000366613 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000366615 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000619305 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.10.140 UniProtKB/Swiss-Prot
GTEx ENSG00000168275 GTEx
HGNC ID HGNC:18025 ENTREZGENE
Human Proteome Map COA6 Human Proteome Map
InterPro COA6 UniProtKB/Swiss-Prot
  Cyt_c_oxidase_su6B UniProtKB/Swiss-Prot
  Cyt_c_oxidase_su6B_sf UniProtKB/Swiss-Prot
KEGG Report hsa:388753 UniProtKB/Swiss-Prot
NCBI Gene 388753 ENTREZGENE
OMIM 614772 OMIM
  616501 OMIM
PANTHER PTHR46690 UniProtKB/Swiss-Prot
Pfam COX6B UniProtKB/Swiss-Prot
PharmGKB PA25617 PharmGKB
PROSITE CHCH UniProtKB/Swiss-Prot
Superfamily-SCOP SSF47694 UniProtKB/Swiss-Prot
UniProt COA6_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  X6R5Z6 ENTREZGENE
UniProt Secondary Q5JTJ2 UniProtKB/Swiss-Prot
  Q5JTJ4 UniProtKB/Swiss-Prot
  Q8TA88 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2014-12-03 COA6  cytochrome c oxidase assembly factor 6    cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED
2012-10-23 COA6  cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae)  C1orf31  chromosome 1 open reading frame 31  Symbol and/or name change 5135510 APPROVED