NDUFA4 (NDUFA4 mitochondrial complex associated) - Rat Genome Database

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Gene: NDUFA4 (NDUFA4 mitochondrial complex associated) Homo sapiens
Analyze
Symbol: NDUFA4
Name: NDUFA4 mitochondrial complex associated
RGD ID: 1352480
HGNC Page HGNC:7687
Description: Predicted to enable NADH dehydrogenase (ubiquinone) activity. Predicted to be involved in proton transmembrane transport. Located in mitochondrion. Part of mitochondrial membrane and respiratory chain complex IV. Implicated in mitochondrial complex IV deficiency nuclear type 21.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CI-9k; CI-MLRQ; Complex I 9kDa subunit; complex I-MLRQ; COXFA4; cytochrome c oxidase subunit FA4; cytochrome c oxidase subunit NDUFA4; FLJ27440; MC4DN21; MGC104422; MGC126843; MGC126845; MISTR1; mitochondrial respiratory chain associated factor 1; mitochondrial stress response 1; MLRQ; MRCAF1; NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa; NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 4; NADH-ubiquinone oxidoreductase MLRQ subunit; NDUFA4, mitochondrial complex associated
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: AC125238.1   LOC100130270   LOC100505788   NDUFA4P1   NDUFA4P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38710,931,943 - 10,940,153 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl710,931,943 - 10,940,153 (-)EnsemblGRCh38hg38GRCh38
GRCh37710,971,570 - 10,979,780 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36710,939,340 - 10,946,338 (-)NCBINCBI36Build 36hg18NCBI36
Build 34710,746,054 - 10,753,053NCBI
Celera710,947,593 - 10,954,592 (-)NCBICelera
Cytogenetic Map7p21.3NCBI
HuRef710,829,724 - 10,838,039 (-)NCBIHuRef
CHM1_1710,972,141 - 10,980,374 (-)NCBICHM1_1
T2T-CHM13v2.0711,062,535 - 11,070,743 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2711,025,124 - 11,033,358 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-dexrazoxane  (ISO)
(+)-schisandrin B  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2-amino-2-deoxy-D-glucopyranose  (ISO)
3-chloropropane-1,2-diol  (EXP,ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP)
aldehydo-D-glucosamine  (ISO)
all-trans-retinoic acid  (EXP)
amitrole  (ISO)
apigenin  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenic trichloride  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
atrazine  (EXP)
azoxystrobin  (EXP)
benzalkonium chloride  (ISO)
benzo[a]pyrene  (ISO)
beta-D-glucosamine  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chloropicrin  (EXP)
cisplatin  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
corosolic acid  (EXP)
cyclosporin A  (EXP)
diarsenic trioxide  (EXP)
dicrotophos  (EXP)
dioxygen  (ISO)
disodium selenite  (EXP)
diuron  (EXP)
doxorubicin  (EXP,ISO)
elemental selenium  (EXP)
epoxiconazole  (ISO)
folic acid  (ISO)
gentamycin  (ISO)
glyphosate  (ISO)
isoniazide  (ISO)
ivermectin  (EXP)
lamivudine  (ISO)
lipopolysaccharide  (EXP)
methimazole  (ISO)
ozone  (EXP)
paracetamol  (EXP,ISO)
paraquat  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
picoxystrobin  (EXP)
quercetin  (EXP)
resveratrol  (ISO)
rotenone  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
sulfadimethoxine  (ISO)
T-2 toxin  (ISO)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
thioacetamide  (ISO)
toluene  (ISO)
tributylstannane  (ISO)
Tributyltin oxide  (ISO)
triphenyl phosphate  (EXP)
triptonide  (ISO)
tungsten  (ISO)
tunicamycin  (EXP)
zidovudine  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype 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. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:9352085   PMID:9878551   PMID:12477932   PMID:12611891   PMID:12690205   PMID:15489334   PMID:16729965   PMID:19822128   PMID:20877624   PMID:21145461   PMID:21832049   PMID:21873635  
PMID:22810586   PMID:22902835   PMID:23209302   PMID:23246001   PMID:23376485   PMID:23455922   PMID:23602568   PMID:23746447   PMID:23798571   PMID:24189400   PMID:24344204   PMID:24457600  
PMID:24981860   PMID:25130324   PMID:25437307   PMID:25659154   PMID:26058080   PMID:26209609   PMID:26300397   PMID:26425749   PMID:26496610   PMID:26687479   PMID:26752685   PMID:26972000  
PMID:27499296   PMID:27545878   PMID:27880917   PMID:28225217   PMID:28319085   PMID:28380382   PMID:28515276   PMID:28675297   PMID:28712289   PMID:28883622   PMID:29111377   PMID:29128334  
PMID:29229926   PMID:29298432   PMID:29507755   PMID:29509794   PMID:29568061   PMID:29656893   PMID:30030519   PMID:30097533   PMID:30238562   PMID:30348529   PMID:30455355   PMID:30462309  
PMID:30463901   PMID:30575818   PMID:30948266   PMID:30997501   PMID:31048545   PMID:31091453   PMID:31419492   PMID:31536960   PMID:31586073   PMID:31732153   PMID:31871319   PMID:31980649  
PMID:32060556   PMID:32203420   PMID:32457219   PMID:32707033   PMID:32807901   PMID:32814053   PMID:33306668   PMID:33658012   PMID:33837217   PMID:33957083   PMID:33961781   PMID:34079125  
PMID:34349018   PMID:34369648   PMID:34650049   PMID:34709727   PMID:34800366   PMID:35063084   PMID:35182466   PMID:35256949   PMID:35384245   PMID:35563538   PMID:35918402   PMID:35944360  
PMID:35977935   PMID:35987950   PMID:36114006   PMID:36206731   PMID:36244648   PMID:36307669   PMID:36538041   PMID:36610398   PMID:36652389   PMID:37314216   PMID:37317656   PMID:37602474  
PMID:37827155   PMID:38113892   PMID:39231216  


Genomics

Comparative Map Data
NDUFA4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38710,931,943 - 10,940,153 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl710,931,943 - 10,940,153 (-)EnsemblGRCh38hg38GRCh38
GRCh37710,971,570 - 10,979,780 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36710,939,340 - 10,946,338 (-)NCBINCBI36Build 36hg18NCBI36
Build 34710,746,054 - 10,753,053NCBI
Celera710,947,593 - 10,954,592 (-)NCBICelera
Cytogenetic Map7p21.3NCBI
HuRef710,829,724 - 10,838,039 (-)NCBIHuRef
CHM1_1710,972,141 - 10,980,374 (-)NCBICHM1_1
T2T-CHM13v2.0711,062,535 - 11,070,743 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2711,025,124 - 11,033,358 (-)NCBI
Ndufa4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39611,900,371 - 11,907,449 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl611,900,291 - 11,907,496 (-)EnsemblGRCm39 Ensembl
GRCm38611,900,372 - 11,907,450 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl611,900,292 - 11,907,497 (-)EnsemblGRCm38mm10GRCm38
MGSCv37611,850,373 - 11,857,446 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36611,850,373 - 11,857,446 (-)NCBIMGSCv36mm8
Celera611,992,912 - 11,999,985 (-)NCBICelera
Cytogenetic Map6A1NCBI
cM Map65.01NCBI
Ndufa4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8440,968,391 - 40,975,559 (-)NCBIGRCr8
mRatBN7.2440,002,216 - 40,009,384 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl440,002,216 - 40,023,920 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx444,975,238 - 44,982,402 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0440,901,442 - 40,908,606 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0439,304,957 - 39,312,121 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0438,233,680 - 38,240,848 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl438,233,680 - 38,240,848 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0438,070,978 - 38,078,251 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4437,125,782 - 37,133,055 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera435,414,376 - 35,421,532 (-)NCBICelera
Cytogenetic Map4q21NCBI
Ndufa4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543217,502,272 - 17,509,517 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495543217,502,272 - 17,509,517 (-)NCBIChiLan1.0ChiLan1.0
NDUFA4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2615,760,949 - 15,767,672 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1764,085,666 - 64,092,390 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0711,585,054 - 11,591,775 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1710,932,727 - 10,939,949 (-)NCBIpanpan1.1PanPan1.1panPan2
NDUFA4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11425,887,204 - 25,893,746 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1425,468,815 - 25,475,355 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01425,696,535 - 25,703,079 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.11425,864,709 - 25,871,252 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01425,594,037 - 25,600,585 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01425,847,856 - 25,854,404 (-)NCBIUU_Cfam_GSD_1.0
Ndufa4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511839,433,348 - 39,440,232 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936761554,028 - 560,901 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936761554,025 - 560,913 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NDUFA4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl980,636,929 - 80,644,315 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1980,637,005 - 80,644,067 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2988,555,979 - 88,563,046 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NDUFA4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12147,245,396 - 47,252,145 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2147,245,170 - 47,252,730 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604257,188,514 - 57,195,774 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ndufa4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248278,366,027 - 8,375,881 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248278,366,597 - 8,373,881 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NDUFA4
45 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7p21.3(chr7:10610069-11290160)x3 copy number gain See cases [RCV000050319] Chr7:10610069..11290160 [GRCh38]
Chr7:10649696..11329787 [GRCh37]
Chr7:10616221..11296312 [NCBI36]
Chr7:7p21.3		 uncertain significance
GRCh38/hg38 7p22.1-21.3(chr7:6106402-11012657)x1 copy number loss See cases [RCV000050923] Chr7:6106402..11012657 [GRCh38]
Chr7:6146033..11052284 [GRCh37]
Chr7:6112559..11018809 [NCBI36]
Chr7:7p22.1-21.3		 pathogenic
GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3 copy number gain See cases [RCV000051159] Chr7:54185..41875885 [GRCh38]
Chr7:54185..41915483 [GRCh37]
Chr7:149268..41882008 [NCBI36]
Chr7:7p22.3-14.1		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p21.3-15.3(chr7:8274775-21988311)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052280]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052280]|See cases [RCV000052280] Chr7:8274775..21988311 [GRCh38]
Chr7:8314405..22027929 [GRCh37]
Chr7:8280930..21994454 [NCBI36]
Chr7:7p21.3-15.3		 pathogenic
GRCh38/hg38 7p21.3-21.1(chr7:9975653-19356878)x1 copy number loss See cases [RCV000052281] Chr7:9975653..19356878 [GRCh38]
Chr7:10015280..19396501 [GRCh37]
Chr7:9981805..19363026 [NCBI36]
Chr7:7p21.3-21.1		 pathogenic
GRCh38/hg38 7p21.3(chr7:10106458-11714808)x4 copy number gain See cases [RCV000053409] Chr7:10106458..11714808 [GRCh38]
Chr7:10146085..11754435 [GRCh37]
Chr7:10112610..11720960 [NCBI36]
Chr7:7p21.3		 uncertain significance
GRCh38/hg38 7p21.3(chr7:10691723-11375132)x3 copy number gain See cases [RCV000053410] Chr7:10691723..11375132 [GRCh38]
Chr7:10731350..11414759 [GRCh37]
Chr7:10697875..11381284 [NCBI36]
Chr7:7p21.3		 uncertain significance
GRCh38/hg38 7p22.3-15.3(chr7:53985-24361531)x3 copy number gain See cases [RCV000053528] Chr7:53985..24361531 [GRCh38]
Chr7:53985..24401150 [GRCh37]
Chr7:149068..24367675 [NCBI36]
Chr7:7p22.3-15.3		 pathogenic
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3 copy number gain See cases [RCV000053530] Chr7:54185..37089712 [GRCh38]
Chr7:54185..37129317 [GRCh37]
Chr7:149268..37095842 [NCBI36]
Chr7:7p22.3-14.2		 pathogenic
NM_002489.4(NDUFA4):c.77C>T (p.Ala26Val) single nucleotide variant not provided [RCV000144495] Chr7:10938862 [GRCh38]
Chr7:10978489 [GRCh37]
Chr7:7p21.3		 not provided
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3 copy number gain See cases [RCV000136557] Chr7:54185..26827634 [GRCh38]
Chr7:54185..26867253 [GRCh37]
Chr7:149268..26833778 [NCBI36]
Chr7:7p22.3-15.2		 pathogenic
GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3 copy number gain See cases [RCV000136649] Chr7:5682209..27230311 [GRCh38]
Chr7:5721840..27269930 [GRCh37]
Chr7:5688366..27236455 [NCBI36]
Chr7:7p22.1-15.2		 pathogenic
GRCh38/hg38 7p21.3(chr7:10835790-11523056)x3 copy number gain See cases [RCV000137364] Chr7:10835790..11523056 [GRCh38]
Chr7:10875417..11562683 [GRCh37]
Chr7:10841942..11529208 [NCBI36]
Chr7:7p21.3		 likely benign
GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3 copy number gain See cases [RCV000137824] Chr7:45130..25221165 [GRCh38]
Chr7:45130..25260784 [GRCh37]
Chr7:140213..25227309 [NCBI36]
Chr7:7p22.3-15.3		 pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3 copy number gain See cases [RCV000143060] Chr7:1698124..27207295 [GRCh38]
Chr7:1737760..27246914 [GRCh37]
Chr7:1704286..27213439 [NCBI36]
Chr7:7p22.3-15.2		 pathogenic
GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)x1 copy number loss See cases [RCV000142708] Chr7:10610069..25760560 [GRCh38]
Chr7:10649696..25800180 [GRCh37]
Chr7:10616221..25766705 [NCBI36]
Chr7:7p21.3-15.2		 pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3 copy number gain See cases [RCV000143586] Chr7:43360..27196404 [GRCh38]
Chr7:43360..27236023 [GRCh37]
Chr7:138443..27202548 [NCBI36]
Chr7:7p22.3-15.2		 pathogenic
GRCh38/hg38 7p21.3(chr7:10610069-11290160)x3 copy number gain See cases [RCV000148270] Chr7:10610069..11290160 [GRCh38]
Chr7:10649696..11329787 [GRCh37]
Chr7:10616221..11296312 [NCBI36]
Chr7:7p21.3		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:183556-12746636)x3 copy number gain See cases [RCV000449446] Chr7:183556..12746636 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.3-21.1(chr7:43360-17656861)x3 copy number gain See cases [RCV000449347] Chr7:43360..17656861 [GRCh37]
Chr7:7p22.3-21.1		 pathogenic
NM_002489.4(NDUFA4):c.-7C>T single nucleotide variant NDUFA4-related disorder [RCV003912651]|not specified [RCV000424507] Chr7:10940064 [GRCh38]
Chr7:10979691 [GRCh37]
Chr7:7p21.3		 benign|likely benign
NM_002489.4(NDUFA4):c.-6G>A single nucleotide variant not specified [RCV000418740] Chr7:10940063 [GRCh38]
Chr7:10979690 [GRCh37]
Chr7:7p21.3		 likely benign
NM_002489.4(NDUFA4):c.-13C>T single nucleotide variant not specified [RCV000444808] Chr7:10940070 [GRCh38]
Chr7:10979697 [GRCh37]
Chr7:7p21.3		 benign
GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3 copy number gain See cases [RCV000510652] Chr7:43360..23674928 [GRCh37]
Chr7:7p22.3-15.3		 pathogenic
GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3 copy number gain See cases [RCV000510275] Chr7:704573..29257946 [GRCh37]
Chr7:7p22.3-14.3		 pathogenic
GRCh37/hg19 7p21.3(chr7:9645570-12393614)x3 copy number gain See cases [RCV000510670] Chr7:9645570..12393614 [GRCh37]
Chr7:7p21.3		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p21.3-21.1(chr7:7660104-18400293)x3 copy number gain See cases [RCV000511575] Chr7:7660104..18400293 [GRCh37]
Chr7:7p21.3-21.1		 uncertain significance
GRCh37/hg19 7p22.3-21.2(chr7:43360-14664158)x3 copy number gain See cases [RCV000511772] Chr7:43360..14664158 [GRCh37]
Chr7:7p22.3-21.2		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p21.3(chr7:10275242-11803023)x4 copy number gain See cases [RCV000512007] Chr7:10275242..11803023 [GRCh37]
Chr7:7p21.3		 likely benign
GRCh37/hg19 7p21.3(chr7:10635991-11383182)x3 copy number gain See cases [RCV000510803] Chr7:10635991..11383182 [GRCh37]
Chr7:7p21.3		 uncertain significance
GRCh37/hg19 7p22.3-21.3(chr7:43360-12098696)x3 copy number gain See cases [RCV000510950] Chr7:43360..12098696 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
NM_002489.4(NDUFA4):c.-18G>T single nucleotide variant not specified [RCV000615278] Chr7:10940075 [GRCh38]
Chr7:10979702 [GRCh37]
Chr7:7p21.3		 likely benign
GRCh37/hg19 7p22.3-21.3(chr7:43360-11567351)x3 copy number gain See cases [RCV000512505] Chr7:43360..11567351 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p21.3(chr7:10866366-11568530)x3 copy number gain not provided [RCV000682863] Chr7:10866366..11568530 [GRCh37]
Chr7:7p21.3		 likely benign
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:10239-13116278)x3 copy number gain not provided [RCV000746277] Chr7:10239..13116278 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
NM_002489.3(NDUFA4):c.-253T>C single nucleotide variant not provided [RCV000835654] Chr7:10940310 [GRCh38]
Chr7:10979937 [GRCh37]
Chr7:7p21.3		 benign
NM_002489.4(NDUFA4):c.189+281A>C single nucleotide variant not provided [RCV000832670] Chr7:10937809 [GRCh38]
Chr7:10937809..10937810 [GRCh38]
Chr7:10977436 [GRCh37]
Chr7:10977436..10977437 [GRCh37]
Chr7:7p21.3		 likely benign
NM_002489.4(NDUFA4):c.43-120A>T single nucleotide variant not provided [RCV000836410] Chr7:10939016 [GRCh38]
Chr7:10978643 [GRCh37]
Chr7:7p21.3		 benign
NM_002489.4(NDUFA4):c.42+247T>C single nucleotide variant not provided [RCV000842844] Chr7:10939769 [GRCh38]
Chr7:10979396 [GRCh37]
Chr7:7p21.3		 benign
NM_002489.4(NDUFA4):c.43-266T>A single nucleotide variant not provided [RCV000842848] Chr7:10939162 [GRCh38]
Chr7:10978789 [GRCh37]
Chr7:7p21.3		 benign
NM_002489.4(NDUFA4):c.131+161T>C single nucleotide variant not provided [RCV000842849] Chr7:10938647 [GRCh38]
Chr7:10978274 [GRCh37]
Chr7:7p21.3		 benign
GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3 copy number gain not provided [RCV000848100] Chr7:43376..19520619 [GRCh37]
Chr7:7p22.3-21.1		 pathogenic
NM_002489.3(NDUFA4):c.-234G>A single nucleotide variant not provided [RCV000836549] Chr7:10940291 [GRCh38]
Chr7:10979918 [GRCh37]
Chr7:7p21.3		 likely benign
NM_002489.3(NDUFA4):c.-233G>T single nucleotide variant not provided [RCV000836550] Chr7:10940290 [GRCh38]
Chr7:10979917 [GRCh37]
Chr7:7p21.3		 likely benign
GRCh37/hg19 7p21.3(chr7:10116563-11737690)x3 copy number gain not provided [RCV001005909] Chr7:10116563..11737690 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_002489.4(NDUFA4):c.190-5C>T single nucleotide variant not provided [RCV003106565] Chr7:10933697 [GRCh38]
Chr7:10973324 [GRCh37]
Chr7:7p21.3		 likely benign
NM_002489.4(NDUFA4):c.25del (p.Ala9fs) deletion not provided [RCV001532102] Chr7:10940033 [GRCh38]
Chr7:10979660 [GRCh37]
Chr7:7p21.3		 likely pathogenic
NC_000007.14:g.10940291C>A single nucleotide variant not provided [RCV001710730] Chr7:10940291 [GRCh38]
Chr7:10979918 [GRCh37]
Chr7:7p21.3		 benign
NM_002489.4(NDUFA4):c.190-43G>A single nucleotide variant not provided [RCV001716756] Chr7:10933735 [GRCh38]
Chr7:10973362 [GRCh37]
Chr7:7p21.3		 benign
NM_002489.4(NDUFA4):c.189+87C>T single nucleotide variant not provided [RCV001594577] Chr7:10938003 [GRCh38]
Chr7:10977630 [GRCh37]
Chr7:7p21.3		 benign
GRCh37/hg19 7p21.3(chr7:10528678-11457492)x3 copy number gain not provided [RCV001259426] Chr7:10528678..11457492 [GRCh37]
Chr7:7p21.3		 likely benign
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_002489.4(NDUFA4):c.42+1G>C single nucleotide variant Mitochondrial complex 4 deficiency, nuclear type 21 [RCV001255196] Chr7:10940015 [GRCh38]
Chr7:10979642 [GRCh37]
Chr7:7p21.3		 pathogenic
GRCh37/hg19 7p21.3(chr7:10712710-11500366)x3 copy number gain not provided [RCV001259430] Chr7:10712710..11500366 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_002489.4(NDUFA4):c.42+207G>A single nucleotide variant not provided [RCV001715953] Chr7:10939809 [GRCh38]
Chr7:10979436 [GRCh37]
Chr7:7p21.3		 benign
GRCh37/hg19 7p21.3-21.2(chr7:8980970-14085991)x3 copy number gain 7p21.3p21.2 microduplication [RCV001775451] Chr7:8980970..14085991 [GRCh37]
Chr7:7p21.3-21.2		 likely pathogenic
NM_002489.4(NDUFA4):c.42+236dup duplication not provided [RCV001769863] Chr7:10939779..10939780 [GRCh38]
Chr7:10979406..10979407 [GRCh37]
Chr7:7p21.3		 likely benign
NM_002489.4(NDUFA4):c.42+313del deletion not provided [RCV001776548] Chr7:10939703 [GRCh38]
Chr7:10979330 [GRCh37]
Chr7:7p21.3		 likely benign
NM_002489.4(NDUFA4):c.190-50C>T single nucleotide variant not provided [RCV001759291] Chr7:10933742 [GRCh38]
Chr7:10973369 [GRCh37]
Chr7:7p21.3		 likely benign
NM_002489.4(NDUFA4):c.132-116A>G single nucleotide variant not provided [RCV001752921] Chr7:10938263 [GRCh38]
Chr7:10977890 [GRCh37]
Chr7:7p21.3		 likely benign
NC_000007.14:g.10940254T>C single nucleotide variant not provided [RCV001752931] Chr7:10940254 [GRCh38]
Chr7:10979881 [GRCh37]
Chr7:7p21.3		 likely benign
NM_002489.4(NDUFA4):c.43-3T>C single nucleotide variant NDUFA4-related disorder [RCV003968543]|not provided [RCV001768079] Chr7:10938899 [GRCh38]
Chr7:10978526 [GRCh37]
Chr7:7p21.3		 likely benign
NM_002489.4(NDUFA4):c.42+24A>T single nucleotide variant not provided [RCV001752905] Chr7:10939992 [GRCh38]
Chr7:10979619 [GRCh37]
Chr7:7p21.3		 likely benign
NC_000007.14:g.10940440T>C single nucleotide variant not provided [RCV001753115] Chr7:10940440 [GRCh38]
Chr7:10980067 [GRCh37]
Chr7:7p21.3		 likely benign
NM_002489.4(NDUFA4):c.42+50G>A single nucleotide variant not provided [RCV001755595] Chr7:10939966 [GRCh38]
Chr7:10979593 [GRCh37]
Chr7:7p21.3		 likely benign
GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167) copy number gain not specified [RCV002053668] Chr7:10745750..35305167 [GRCh37]
Chr7:7p21.3-14.2		 likely pathogenic
GRCh37/hg19 7p21.3-15.3(chr7:9358316-20982082) copy number loss not specified [RCV002053667] Chr7:9358316..20982082 [GRCh37]
Chr7:7p21.3-15.3		 pathogenic
GRCh37/hg19 7p21.3-21.1(chr7:7909867-17213072)x1 copy number loss not provided [RCV001836593] Chr7:7909867..17213072 [GRCh37]
Chr7:7p21.3-21.1		 uncertain significance
GRCh38/hg38 7p21.3(chr7:10609869-11290301) copy number gain Diaphragmatic hernia [RCV001823076] Chr7:10609869..11290301 [GRCh38]
Chr7:7p21.3		 uncertain significance
NM_002489.4(NDUFA4):c.135G>C (p.Trp45Cys) single nucleotide variant not provided [RCV001996896] Chr7:10938144 [GRCh38]
Chr7:10977771 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_002489.4(NDUFA4):c.19G>A (p.Gly7Ser) single nucleotide variant not provided [RCV003119048] Chr7:10940039 [GRCh38]
Chr7:10979666 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_002489.4(NDUFA4):c.42+1del deletion Mitochondrial complex 4 deficiency, nuclear type 21 [RCV003152864] Chr7:10940015 [GRCh38]
Chr7:10979642 [GRCh37]
Chr7:7p21.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)x3 copy number gain See cases [RCV002287567] Chr7:43360..19485604 [GRCh37]
Chr7:7p22.3-21.1		 pathogenic
NM_002489.4(NDUFA4):c.218A>G (p.Lys73Arg) single nucleotide variant not provided [RCV002947162] Chr7:10933664 [GRCh38]
Chr7:10973291 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_002489.4(NDUFA4):c.43-20C>G single nucleotide variant not provided [RCV002617060] Chr7:10938916 [GRCh38]
Chr7:10978543 [GRCh37]
Chr7:7p21.3		 likely benign
NM_002489.4(NDUFA4):c.189+12A>T single nucleotide variant not provided [RCV002824936] Chr7:10938078 [GRCh38]
Chr7:10977705 [GRCh37]
Chr7:7p21.3		 likely benign
NM_002489.4(NDUFA4):c.190-10C>G single nucleotide variant not provided [RCV003040634] Chr7:10933702 [GRCh38]
Chr7:10973329 [GRCh37]
Chr7:7p21.3		 likely benign
NM_002489.4(NDUFA4):c.189+14T>C single nucleotide variant not provided [RCV002875903] Chr7:10938076 [GRCh38]
Chr7:10977703 [GRCh37]
Chr7:7p21.3		 likely benign
NM_002489.4(NDUFA4):c.190-8G>C single nucleotide variant NDUFA4-related disorder [RCV003943757]|not provided [RCV003089349] Chr7:10933700 [GRCh38]
Chr7:10973327 [GRCh37]
Chr7:7p21.3		 likely benign
NM_002489.4(NDUFA4):c.190-12_190-11del deletion not provided [RCV002627463] Chr7:10933703..10933704 [GRCh38]
Chr7:10973330..10973331 [GRCh37]
Chr7:7p21.3		 benign
NM_002489.4(NDUFA4):c.42+20C>G single nucleotide variant not provided [RCV003028019] Chr7:10939996 [GRCh38]
Chr7:10979623 [GRCh37]
Chr7:7p21.3		 likely benign
NM_002489.4(NDUFA4):c.214A>G (p.Ser72Gly) single nucleotide variant not provided [RCV002601996]|not specified [RCV004065706] Chr7:10933668 [GRCh38]
Chr7:10973295 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_002489.4(NDUFA4):c.180T>C (p.Asp60=) single nucleotide variant not provided [RCV002582669] Chr7:10938099 [GRCh38]
Chr7:10977726 [GRCh37]
Chr7:7p21.3		 likely benign
NM_002489.4(NDUFA4):c.176A>G (p.Asn59Ser) single nucleotide variant not provided [RCV002943920] Chr7:10938103 [GRCh38]
Chr7:10977730 [GRCh37]
Chr7:7p21.3		 likely benign
NM_002489.4(NDUFA4):c.4C>T (p.Leu2Phe) single nucleotide variant not provided [RCV002584440] Chr7:10940054 [GRCh38]
Chr7:10979681 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_002489.4(NDUFA4):c.149C>G (p.Pro50Arg) single nucleotide variant not provided [RCV002612466] Chr7:10938130 [GRCh38]
Chr7:10977757 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_002489.4(NDUFA4):c.103C>G (p.Arg35Gly) single nucleotide variant not specified [RCV004262288] Chr7:10938836 [GRCh38]
Chr7:10978463 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_002489.4(NDUFA4):c.95A>C (p.Tyr32Ser) single nucleotide variant not specified [RCV004252286] Chr7:10938844 [GRCh38]
Chr7:10978471 [GRCh37]
Chr7:7p21.3		 uncertain significance
GRCh37/hg19 7p21.3-21.2(chr7:10973263-14669896)x3 copy number gain not provided [RCV003327276] Chr7:10973263..14669896 [GRCh37]
Chr7:7p21.3-21.2		 uncertain significance
NM_002489.4(NDUFA4):c.143A>C (p.Asn48Thr) single nucleotide variant not specified [RCV004357779] Chr7:10938136 [GRCh38]
Chr7:10977763 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_002489.4(NDUFA4):c.30G>A (p.Lys10=) single nucleotide variant not provided [RCV003443948] Chr7:10940028 [GRCh38]
Chr7:10979655 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_002489.4(NDUFA4):c.6C>A (p.Leu2=) single nucleotide variant not provided [RCV003433751] Chr7:10940052 [GRCh38]
Chr7:10979679 [GRCh37]
Chr7:7p21.3		 likely benign
NM_002489.4(NDUFA4):c.190-8G>T single nucleotide variant not provided [RCV003668467] Chr7:10933700 [GRCh38]
Chr7:10973327 [GRCh37]
Chr7:7p21.3		 likely benign
NM_002489.4(NDUFA4):c.219G>A (p.Lys73=) single nucleotide variant not provided [RCV003560349] Chr7:10933663 [GRCh38]
Chr7:10973290 [GRCh37]
Chr7:7p21.3		 likely benign
NM_002489.4(NDUFA4):c.42+8C>G single nucleotide variant not provided [RCV003559058] Chr7:10940008 [GRCh38]
Chr7:10979635 [GRCh37]
Chr7:7p21.3		 likely benign
NM_002489.4(NDUFA4):c.43-18_43-14del deletion not provided [RCV003838570] Chr7:10938910..10938914 [GRCh38]
Chr7:10978537..10978541 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_002489.4(NDUFA4):c.109G>C (p.Ala37Pro) single nucleotide variant not provided [RCV003837883] Chr7:10938830 [GRCh38]
Chr7:10978457 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_002489.4(NDUFA4):c.86C>T (p.Ala29Val) single nucleotide variant not provided [RCV003866418] Chr7:10938853 [GRCh38]
Chr7:10978480 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_002489.4(NDUFA4):c.3_4delinsCT (p.Met1_Leu2delinsIlePhe) indel not provided [RCV003678771] Chr7:10940054..10940055 [GRCh38]
Chr7:10979681..10979682 [GRCh37]
Chr7:7p21.3		 uncertain significance
NC_000007.13:g.(?_10973263)_(10979684_?)dup duplication not provided [RCV004583634] Chr7:10973263..10979684 [GRCh37]
Chr7:7p21.3		 uncertain significance
NC_000007.13:g.(?_10973263)_(10973339_?)dup duplication not provided [RCV004583635] Chr7:10973263..10973339 [GRCh37]
Chr7:7p21.3		 uncertain significance
NM_002489.4(NDUFA4):c.131+1G>A single nucleotide variant Mitochondrial complex 4 deficiency, nuclear type 21 [RCV004595202] Chr7:10938807 [GRCh38]
Chr7:10978434 [GRCh37]
Chr7:7p21.3		 likely pathogenic
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR147Bhsa-miR-147bMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248

Predicted Target Of
Summary Value
Count of predictions:1238
Count of miRNA genes:714
Interacting mature miRNAs:796
Transcripts:ENST00000339600, ENST00000463308, ENST00000470761, ENST00000482299, ENST00000486007, ENST00000492822
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1643402BMD2_HBone mineral density QTL 2 (human)2.690.0002Bone mineral density7122435431Human
1643247BW130_HBody Weight QTL 130 (human)1.280.008Body weightbody mass index7117453493Human
1643391BW322_HBody weight QTL 322 (human)2.690.0002Body fat amount7122435431Human
406895407GWAS544383_Heosinophil-derived neurotoxin measurement QTL GWAS544383 (human)5e-08eosinophil-derived neurotoxin measurement71093780910937810Human

Markers in Region
RH36185  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37710,972,777 - 10,972,876UniSTSGRCh37
Build 36710,939,302 - 10,939,401RGDNCBI36
Celera710,947,555 - 10,947,654RGD
Cytogenetic Map7p21.3UniSTS
HuRef710,830,921 - 10,831,020UniSTS
CRA_TCAGchr7v2711,026,321 - 11,026,420UniSTS
GeneMap99-GB4 RH Map758.79UniSTS
NCBI RH Map7201.2UniSTS
RH70516  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371108,047,844 - 108,047,927UniSTSGRCh37
GRCh37710,978,463 - 10,979,665UniSTSGRCh37
Build 361107,849,367 - 107,849,450RGDNCBI36
Celera710,953,242 - 10,954,444UniSTS
Celera1106,222,598 - 106,222,681RGD
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map1p13.3UniSTS
HuRef1105,993,771 - 105,993,854UniSTS
HuRef710,836,689 - 10,837,891UniSTS
CRA_TCAGchr7v2711,032,008 - 11,033,210UniSTS
SHGC-75243  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371108,047,920 - 108,048,062UniSTSGRCh37
Build 361107,849,443 - 107,849,585RGDNCBI36
Celera1106,222,674 - 106,222,816RGD
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map7p21.3UniSTS
HuRef1105,993,847 - 105,993,989UniSTS
GeneMap99-GB4 RH Map1334.29UniSTS
NCBI RH Map1832.0UniSTS
UniSTS:486201  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371108,047,772 - 108,048,138UniSTSGRCh37
Build 361107,849,295 - 107,849,661RGDNCBI36
Celera1106,222,526 - 106,222,892RGD
HuRef1105,993,699 - 105,994,065UniSTS


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
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence


Ensembl Acc Id: ENST00000339600   ⟹   ENSP00000339720
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl710,931,943 - 10,940,153 (-)Ensembl
Ensembl Acc Id: ENST00000463308
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl710,938,104 - 10,939,051 (-)Ensembl
Ensembl Acc Id: ENST00000470761
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl710,933,665 - 10,939,834 (-)Ensembl
Ensembl Acc Id: ENST00000482299
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl710,933,515 - 10,938,517 (-)Ensembl
Ensembl Acc Id: ENST00000486007
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl710,937,867 - 10,940,079 (-)Ensembl
Ensembl Acc Id: ENST00000492822
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl710,939,213 - 10,940,135 (-)Ensembl
RefSeq Acc Id: NM_002489   ⟹   NP_002480
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38710,931,943 - 10,940,153 (-)NCBI
GRCh37710,971,580 - 10,979,813 (-)ENTREZGENE
Build 36710,939,340 - 10,946,338 (-)NCBI Archive
Celera710,947,593 - 10,954,592 (-)RGD
HuRef710,829,724 - 10,838,039 (-)ENTREZGENE
CHM1_1710,972,141 - 10,980,374 (-)NCBI
T2T-CHM13v2.0711,062,535 - 11,070,743 (-)NCBI
CRA_TCAGchr7v2711,025,124 - 11,033,358 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NP_002480   ⟸   NM_002489
- UniProtKB: A4D109 (UniProtKB/Swiss-Prot),   Q6FHN5 (UniProtKB/Swiss-Prot),   O00483 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000339720   ⟸   ENST00000339600

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O00483-F1-model_v2 AlphaFold O00483 1-81 view protein structure

Promoters
RGD ID:7209943
Promoter ID:EPDNEW_H10716
Type:initiation region
Name:NDUFA4_1
Description:NDUFA4, mitochondrial complex associated
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
GRCh38710,940,132 - 10,940,192EPDNEW
RGD ID:6805951
Promoter ID:HG_KWN:56325
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:OTTHUMT00000207507,   OTTHUMT00000325849,   OTTHUMT00000325850,   OTTHUMT00000325851,   OTTHUMT00000325852,   OTTHUMT00000326023
Position:
Human AssemblyChrPosition (strand)Source
Build 36710,946,206 - 10,946,852 (-)MPROMDB
RGD ID:6851886
Promoter ID:EP73749
Type:initiation region
Name:HS_NDUFA4
Description:NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa.
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 36710,946,287 - 10,946,347EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7687 AgrOrtholog
COSMIC NDUFA4 COSMIC
Ensembl Genes ENSG00000189043 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000339600 ENTREZGENE
  ENST00000339600.6 UniProtKB/Swiss-Prot
GTEx ENSG00000189043 GTEx
HGNC ID HGNC:7687 ENTREZGENE
Human Proteome Map NDUFA4 Human Proteome Map
InterPro B12D UniProtKB/Swiss-Prot
KEGG Report hsa:4697 UniProtKB/Swiss-Prot
NCBI Gene 4697 ENTREZGENE
OMIM 603833 OMIM
PANTHER CYTOCHROME C OXIDASE SUBUNIT NDUFA4 UniProtKB/Swiss-Prot
  PTHR14256 UniProtKB/Swiss-Prot
Pfam B12D UniProtKB/Swiss-Prot
PharmGKB PA31493 PharmGKB
UniProt A4D109 ENTREZGENE
  NDUA4_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q6FHN5 ENTREZGENE
UniProt Secondary A4D109 UniProtKB/Swiss-Prot
  Q6FHN5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-29 NDUFA4  NDUFA4 mitochondrial complex associated  NDUFA4  NDUFA4, mitochondrial complex associated  Symbol and/or name change 5135510 APPROVED
2014-08-06 NDUFA4  NDUFA4, mitochondrial complex associated  NDUFA4  NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa  Symbol and/or name change 5135510 APPROVED