NDUFA6 (NADH:ubiquinone oxidoreductase subunit A6) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: NDUFA6 (NADH:ubiquinone oxidoreductase subunit A6) Homo sapiens
Analyze
Symbol: NDUFA6
Name: NADH:ubiquinone oxidoreductase subunit A6
RGD ID: 1320359
HGNC Page HGNC
Description: Involved in mitochondrial respiratory chain complex I assembly and response to oxidative stress. Located in mitochondrial membrane. Part of mitochondrial respiratory chain complex I. Implicated in nuclear type mitochondrial complex I deficiency 33. Biomarker of Alzheimer's disease.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: B14; CI-B14; complex I B14 subunit; Complex I-B14; LYR motif-containing protein 6; LYRM6; MC1DN33; NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa; NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 6; NADH-ubiquinone oxidoreductase 1 alpha subcomplex, 6; NADH-ubiquinone oxidoreductase B14 subunit; NADHB14
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 Ensembl2242,085,526 - 42,090,884 (-)EnsemblGRCh38hg38GRCh38
GRCh382242,085,526 - 42,090,772 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372242,481,530 - 42,486,776 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362240,811,476 - 40,816,834 (-)NCBINCBI36hg18NCBI36
Build 342240,806,030 - 40,811,388NCBI
Celera2226,287,732 - 26,293,090 (-)NCBI
Cytogenetic Map22q13.2NCBI
HuRef2225,447,717 - 25,453,074 (-)NCBIHuRef
CHM1_12242,441,649 - 42,447,020 (-)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
References

Additional References at PubMed
PMID:9345899   PMID:9425316   PMID:9763676   PMID:9878551   PMID:10591208   PMID:10830953   PMID:12477932   PMID:12611891   PMID:12857734   PMID:15461802   PMID:15489334   PMID:16169070  
PMID:17209039   PMID:17601350   PMID:18976975   PMID:18977241   PMID:19343046   PMID:20819778   PMID:20877624   PMID:21873635   PMID:24344204   PMID:25056061   PMID:26344197   PMID:26465331  
PMID:26496610   PMID:26972000   PMID:27499296   PMID:27626371   PMID:28380382   PMID:28514442   PMID:29395067   PMID:29568061   PMID:29987050   PMID:30245030   PMID:31056398   PMID:31073040  
PMID:31536960   PMID:31586073   PMID:31617661   PMID:32457219   PMID:32877691   PMID:33957083   PMID:34079125  


Genomics

Comparative Map Data
NDUFA6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2242,085,526 - 42,090,884 (-)EnsemblGRCh38hg38GRCh38
GRCh382242,085,526 - 42,090,772 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372242,481,530 - 42,486,776 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362240,811,476 - 40,816,834 (-)NCBINCBI36hg18NCBI36
Build 342240,806,030 - 40,811,388NCBI
Celera2226,287,732 - 26,293,090 (-)NCBI
Cytogenetic Map22q13.2NCBI
HuRef2225,447,717 - 25,453,074 (-)NCBIHuRef
CHM1_12242,441,649 - 42,447,020 (-)NCBICHM1_1
Ndufa6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391582,234,340 - 82,238,492 (-)NCBIGRCm39mm39
GRCm39 Ensembl1582,234,341 - 82,238,523 (-)Ensembl
GRCm381582,350,139 - 82,354,291 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1582,350,140 - 82,354,322 (-)EnsemblGRCm38mm10GRCm38
MGSCv371582,180,569 - 82,184,721 (-)NCBIGRCm37mm9NCBIm37
MGSCv361582,177,927 - 82,182,006 (-)NCBImm8
Celera1584,474,298 - 84,478,444 (-)NCBICelera
Cytogenetic Map15E1NCBI
Ndufa6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27113,866,382 - 113,870,239 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl7113,866,382 - 113,870,239 (-)Ensembl
Rnor_6.07123,583,062 - 123,586,919 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7123,583,062 - 123,586,919 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07123,567,781 - 123,571,638 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47120,726,071 - 120,729,928 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17120,760,305 - 120,764,140 (-)NCBI
Celera7110,181,220 - 110,185,077 (-)NCBICelera
Cytogenetic Map7q34NCBI
Ndufa6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541327,485,678 - 27,491,757 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541327,485,678 - 27,491,757 (-)NCBIChiLan1.0ChiLan1.0
NDUFA6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12241,066,111 - 41,074,852 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2241,066,111 - 41,074,852 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02222,978,954 - 22,987,979 (-)NCBIMhudiblu_PPA_v0panPan3
NDUFA6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11023,283,951 - 23,292,457 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1023,283,933 - 23,292,638 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1023,218,678 - 23,226,545 (+)NCBI
ROS_Cfam_1.01024,028,457 - 24,036,987 (+)NCBI
UMICH_Zoey_3.11023,746,101 - 23,754,602 (+)NCBI
UNSW_CanFamBas_1.01024,066,922 - 24,075,444 (+)NCBI
UU_Cfam_GSD_1.01024,240,891 - 24,249,421 (+)NCBI
Ndufa6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049456,912,544 - 6,919,368 (+)NCBI
SpeTri2.0NW_00493671860,797 - 67,614 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NDUFA6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl56,562,011 - 6,567,647 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.156,562,074 - 6,567,321 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.253,786,926 - 3,792,175 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NDUFA6
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11924,622,172 - 24,630,977 (-)NCBI
Vero_WHO_p1.0NW_023666045100,764,521 - 100,773,331 (+)NCBI
Ndufa6
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247526,658,807 - 6,663,830 (+)NCBI

Position Markers
A008Y37  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,487,497 - 42,487,599UniSTSGRCh37
Build 362240,817,443 - 40,817,545RGDNCBI36
Celera2226,293,699 - 26,293,801RGD
Cytogenetic Map22q13.2UniSTS
HuRef2225,453,683 - 25,453,785UniSTS
GeneMap99-GB4 RH Map22136.76UniSTS
RH75430  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,481,563 - 42,481,799UniSTSGRCh37
Build 362240,811,509 - 40,811,745RGDNCBI36
Celera2226,287,765 - 26,288,001RGD
Cytogenetic Map22q13.2UniSTS
HuRef2225,447,750 - 25,447,986UniSTS
RH103955  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,485,855 - 42,485,936UniSTSGRCh37
Build 362240,815,801 - 40,815,882RGDNCBI36
Celera2226,292,057 - 26,292,138RGD
Cytogenetic Map22q13.2UniSTS
HuRef2225,452,041 - 25,452,122UniSTS
GeneMap99-GB4 RH Map22136.44UniSTS
RH78147  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,487,480 - 42,487,605UniSTSGRCh37
Build 362240,817,426 - 40,817,551RGDNCBI36
Celera2226,293,682 - 26,293,807RGD
Cytogenetic Map22q13.2UniSTS
HuRef2225,453,666 - 25,453,791UniSTS
GeneMap99-GB4 RH Map22136.44UniSTS
WI-20966  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,481,570 - 42,481,852UniSTSGRCh37
Build 362240,811,516 - 40,811,798RGDNCBI36
Celera2226,287,772 - 26,288,054RGD
Cytogenetic Map22q13.2UniSTS
HuRef2225,447,757 - 25,448,039UniSTS
GeneMap99-GB4 RH Map22136.05UniSTS
Whitehead-RH Map22158.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:490
Count of miRNA genes:251
Interacting mature miRNAs:264
Transcripts:ENST00000470753, ENST00000498737, ENST00000602404
Prediction methods: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 adipose tissue appendage entire extraembryonic component
High
Medium 2432 2752 1720 619 1740 461 4355 2169 3702 417 1448 1608 171 1204 2788 4
Low 232 3 3 208 3 24 6 1
Below cutoff

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000470753   ⟹   ENSP00000473478
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2242,086,116 - 42,087,335 (-)Ensembl
RefSeq Acc Id: ENST00000498737   ⟹   ENSP00000418842
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2242,085,526 - 42,090,772 (-)Ensembl
RefSeq Acc Id: ENST00000617763   ⟹   ENSP00000482543
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2242,085,527 - 42,090,884 (-)Ensembl
RefSeq Acc Id: NM_002490   ⟹   NP_002481
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382242,085,526 - 42,090,772 (-)NCBI
GRCh372242,481,530 - 42,486,888 (-)RGD
Build 362240,811,476 - 40,816,834 (-)NCBI Archive
Celera2226,287,732 - 26,293,090 (-)RGD
HuRef2225,447,717 - 25,453,074 (-)RGD
CHM1_12242,441,649 - 42,447,020 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_002481   ⟸   NM_002490
- Sequence:
RefSeq Acc Id: ENSP00000473478   ⟸   ENST00000470753
RefSeq Acc Id: ENSP00000418842   ⟸   ENST00000498737
RefSeq Acc Id: ENSP00000482543   ⟸   ENST00000617763

Promoters
RGD ID:6800173
Promoter ID:HG_KWN:43049
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat,   Lymphoblastoid
Transcripts:OTTHUMT00000322090
Position:
Human AssemblyChrPosition (strand)Source
Build 362240,812,716 - 40,813,216 (-)MPROMDB
RGD ID:6800351
Promoter ID:HG_KWN:43050
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:OTTHUMT00000320522,   OTTHUMT00000320524,   OTTHUMT00000322089,   OTTHUMT00000322152,   UC003BCC.1,   UC003BCD.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362240,816,596 - 40,817,562 (+)MPROMDB
RGD ID:6851888
Promoter ID:EP73750
Type:multiple initiation site
Name:HS_NDUFA6
Description:NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa.
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 362240,816,709 - 40,816,769EPD
RGD ID:13604304
Promoter ID:EPDNEW_H28338
Type:initiation region
Name:NDUFA6_1
Description:NADH:ubiquinone oxidoreductase subunit A6
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
GRCh382242,090,772 - 42,090,832EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3 copy number gain See cases [RCV000051684] Chr22:37061769..50738932 [GRCh38]
Chr22:37457809..51177360 [GRCh37]
Chr22:35787755..49524226 [NCBI36]
Chr22:22q12.3-13.33
pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 copy number gain See cases [RCV000051682] Chr22:33768441..50739977 [GRCh38]
Chr22:34164428..51178405 [GRCh37]
Chr22:32494428..49525271 [NCBI36]
Chr22:22q12.3-13.33
pathogenic
NM_002490.3(NDUFA6):c.87G>A (p.Gly29=) single nucleotide variant Malignant melanoma [RCV000072984] Chr22:42090736 [GRCh38]
Chr22:42486740 [GRCh37]
Chr22:40816686 [NCBI36]
Chr22:22q13.2
not provided
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
Single allele deletion Intellectual disability [RCV001293368] Chr22:42356886..43684002 [GRCh37]
Chr22:22q13.2
pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3 copy number gain See cases [RCV000134513] Chr22:40202014..50735806 [GRCh38]
Chr22:40598018..51174234 [GRCh37]
Chr22:38927964..49521100 [NCBI36]
Chr22:22q13.1-13.33
pathogenic
GRCh38/hg38 22q13.2(chr22:41645339-42565798)x1 copy number loss See cases [RCV000136528] Chr22:41645339..42565798 [GRCh38]
Chr22:42041343..42961804 [GRCh37]
Chr22:40371289..41291748 [NCBI36]
Chr22:22q13.2
uncertain significance
GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1 copy number loss See cases [RCV000136921] Chr22:41871143..50739836 [GRCh38]
Chr22:42267147..51178264 [GRCh37]
Chr22:40597093..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2(chr22:41277822-42414957)x3 copy number gain See cases [RCV000136785] Chr22:41277822..42414957 [GRCh38]
Chr22:41673826..42810963 [GRCh37]
Chr22:40003772..41140907 [NCBI36]
Chr22:22q13.2
pathogenic
NM_002490.6(NDUFA6):c.322C>T (p.His108Tyr) single nucleotide variant not specified [RCV000202893] Chr22:42086248 [GRCh38]
Chr22:42482252 [GRCh37]
Chr22:22q13.2
likely benign
GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3 copy number gain See cases [RCV000142755] Chr22:42080077..50739836 [GRCh38]
Chr22:42476081..51178264 [GRCh37]
Chr22:40806027..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2(chr22:42207144-42776457)x1 copy number loss See cases [RCV000240146] Chr22:42207144..42776457 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3 copy number gain See cases [RCV000240469] Chr22:35728929..51220961 [GRCh37]
Chr22:22q12.3-13.33
pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3 copy number gain See cases [RCV000240459] Chr22:40425714..51220961 [GRCh37]
Chr22:22q13.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2(chr22:42486662-42525705)x3 copy number gain See cases [RCV000446480] Chr22:42486662..42525705 [GRCh37]
Chr22:22q13.2
benign
GRCh37/hg19 22q13.2(chr22:42486662-42540449)x3 copy number gain See cases [RCV000447348] Chr22:42486662..42540449 [GRCh37]
Chr22:22q13.2
benign|likely benign
GRCh37/hg19 22q13.2(chr22:42486662-42536651)x3 copy number gain See cases [RCV000448934] Chr22:42486662..42536651 [GRCh37]
Chr22:22q13.2
benign|likely benign
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2(chr22:41835094-42756616)x3 copy number gain See cases [RCV000511241] Chr22:41835094..42756616 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q13.2-13.33(chr22:42441918-51197838)x1 copy number loss See cases [RCV000510765] Chr22:42441918..51197838 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_002490.6(NDUFA6):c.355del (p.Leu119fs) deletion Mitochondrial complex 1 deficiency, nuclear type 33 [RCV000710002]|Mitochondrial diseases [RCV000680375] Chr22:42086215 [GRCh38]
Chr22:42482219 [GRCh37]
Chr22:22q13.2
pathogenic
NM_002490.6(NDUFA6):c.331_332del (p.Glu111fs) deletion Mitochondrial complex 1 deficiency, nuclear type 33 [RCV000709999]|Mitochondrial diseases [RCV000680374] Chr22:42086238..42086239 [GRCh38]
Chr22:42482242..42482243 [GRCh37]
Chr22:22q13.2
pathogenic
NM_002490.6(NDUFA6):c.3G>A (p.Met1Ile) single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 33 [RCV000710000]|Mitochondrial diseases [RCV000680370] Chr22:42090742 [GRCh38]
Chr22:42486746 [GRCh37]
Chr22:22q13.2
pathogenic
NM_002490.6(NDUFA6):c.309del (p.Met104fs) deletion Mitochondrial complex 1 deficiency, nuclear type 33 [RCV000710001]|Mitochondrial diseases [RCV000680373] Chr22:42086261 [GRCh38]
Chr22:42482265 [GRCh37]
Chr22:22q13.2
pathogenic
GRCh37/hg19 22q13.2(chr22:41849322-42756616)x3 copy number gain not provided [RCV000684486] Chr22:41849322..42756616 [GRCh37]
Chr22:22q13.2
likely pathogenic
NM_002490.6(NDUFA6):c.191G>C (p.Arg64Pro) single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 33 [RCV000709997]|Mitochondrial diseases [RCV000680371] Chr22:42087124 [GRCh38]
Chr22:42483128 [GRCh37]
Chr22:22q13.2
pathogenic
NM_002490.6(NDUFA6):c.265G>T (p.Glu89Ter) single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 33 [RCV000709998]|Mitochondrial diseases [RCV000680372] Chr22:42086305 [GRCh38]
Chr22:42482309 [GRCh37]
Chr22:22q13.2
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42151555-51195728)x1 copy number loss not provided [RCV000741989] Chr22:42151555..51195728 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.2(chr22:42470317-42535461)x1 copy number loss not provided [RCV000741995] Chr22:42470317..42535461 [GRCh37]
Chr22:22q13.2
benign
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759) copy number loss 22q13.3 deletion syndrome [RCV000767745] Chr22:42416026..51181759 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3 copy number gain not provided [RCV001007181] Chr22:30654764..51197838 [GRCh37]
Chr22:22q12.2-13.33
pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3 copy number gain not provided [RCV001007502] Chr22:40502364..51197838 [GRCh37]
Chr22:22q13.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
Single allele deletion Developmental delay with variable intellectual impairment and behavioral abnormalities [RCV001391668] Chr22:42440000..43780000 [GRCh37]
Chr22:22q13.2
pathogenic
Single allele deletion Intellectual disability [RCV001293376] Chr22:42333802..51195728 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
NM_002490.6(NDUFA6):c.387A>C (p.Ter129Cys) single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 33 [RCV001420587] Chr22:42086183 [GRCh38]
Chr22:42482187 [GRCh37]
Chr22:22q13.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7690 AgrOrtholog
COSMIC NDUFA6 COSMIC
Ensembl Genes ENSG00000184983 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000272765 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000273397 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000277365 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000281013 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000418842 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000473478 UniProtKB/TrEMBL
  ENSP00000475402 UniProtKB/Swiss-Prot
  ENSP00000475816 UniProtKB/TrEMBL
  ENSP00000482543 UniProtKB/TrEMBL
  ENSP00000484723 UniProtKB/TrEMBL
  ENSP00000485080 UniProtKB/TrEMBL
  ENSP00000485713 UniProtKB/TrEMBL
  ENSP00000485795 UniProtKB/TrEMBL
  ENSP00000485886 UniProtKB/TrEMBL
  ENSP00000486423 UniProtKB/TrEMBL
  ENSP00000486781 UniProtKB/Swiss-Prot
  ENSP00000487431 UniProtKB/Swiss-Prot
  ENSP00000487462 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000470753 UniProtKB/TrEMBL
  ENST00000498737 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000605916 UniProtKB/Swiss-Prot
  ENST00000605927 UniProtKB/TrEMBL
  ENST00000607132 UniProtKB/TrEMBL
  ENST00000610887 UniProtKB/TrEMBL
  ENST00000617763 UniProtKB/TrEMBL
  ENST00000627617 UniProtKB/TrEMBL
  ENST00000628004 UniProtKB/TrEMBL
  ENST00000628198 UniProtKB/TrEMBL
  ENST00000628740 UniProtKB/Swiss-Prot
  ENST00000630201 UniProtKB/Swiss-Prot
  ENST00000630511 UniProtKB/TrEMBL
  ENST00000630971 UniProtKB/Swiss-Prot
GTEx ENSG00000184983 GTEx
  ENSG00000272765 GTEx
  ENSG00000273397 GTEx
  ENSG00000277365 GTEx
  ENSG00000281013 GTEx
HGNC ID HGNC:7690 ENTREZGENE
Human Proteome Map NDUFA6 Human Proteome Map
InterPro Complex1_LYR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NADH_Ub_cplx-1_asu_su-6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4700 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 4700 ENTREZGENE
OMIM 602138 OMIM
  618253 OMIM
PANTHER PTHR12964 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Complex1_LYR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31496 PharmGKB
PIRSF NDUA6 UniProtKB/Swiss-Prot
UniProt A0A2Y9D025_HUMAN UniProtKB/TrEMBL
  NDUA6_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  R4GN43_HUMAN UniProtKB/TrEMBL
UniProt Secondary B2RE54 UniProtKB/Swiss-Prot
  O43675 UniProtKB/Swiss-Prot
  Q6FGW0 UniProtKB/Swiss-Prot
  Q6IBT8 UniProtKB/Swiss-Prot
  Q6IC39 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 NDUFA6  NADH:ubiquinone oxidoreductase subunit A6    NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa  Symbol and/or name change 5135510 APPROVED