NDUFA11 (NADH:ubiquinone oxidoreductase subunit A11) - Rat Genome Database

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Gene: NDUFA11 (NADH:ubiquinone oxidoreductase subunit A11) Homo sapiens
Analyze
Symbol: NDUFA11
Name: NADH:ubiquinone oxidoreductase subunit A11
RGD ID: 1353803
HGNC Page HGNC:20371
Description: Involved in mitochondrial respiratory chain complex I assembly. Located in mitochondrial inner membrane. Part of mitochondrial respiratory chain complex I. Implicated in communication disorder and nuclear type mitochondrial complex I deficiency 14.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: B14.7; CI-B14.7; complex I B14.7 subunit; complex I-B14.7; FLJ76501; MC1DN14; NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa; NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 11; NADH-ubiquinone oxidoreductase subunit B14.7
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
GRCh38195,891,229 - 5,903,790 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl195,891,276 - 5,904,006 (-)EnsemblGRCh38hg38GRCh38
GRCh37195,891,240 - 5,903,801 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36195,845,686 - 5,855,025 (-)NCBINCBI36Build 36hg18NCBI36
Build 34195,845,685 - 5,855,025NCBI
Celera195,830,248 - 5,842,986 (-)NCBICelera
Cytogenetic Map19p13.3NCBI
HuRef195,650,763 - 5,663,502 (-)NCBIHuRef
CHM1_1195,891,532 - 5,904,277 (-)NCBICHM1_1
T2T-CHM13v2.0195,878,657 - 5,891,220 (-)NCBIT2T-CHM13v2.0
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

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Mutation burden analysis of six common mental disorders in African Americans by whole genome sequencing. Liu Y, etal., Hum Mol Genet. 2022 Nov 10;31(22):3769-3776. doi: 10.1093/hmg/ddac129.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:12381726   PMID:12477932   PMID:12611891   PMID:12665801   PMID:12951057   PMID:15489334   PMID:18306244   PMID:21873635   PMID:24344204   PMID:25609649   PMID:26972000   PMID:27432908  
PMID:27499296   PMID:27626371   PMID:28380382   PMID:28675297   PMID:28844695   PMID:30030361   PMID:31536960   PMID:32296183   PMID:32807901   PMID:32877691   PMID:33961781   PMID:36114006  
PMID:36538041   PMID:38113892  


Genomics

Comparative Map Data
NDUFA11
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38195,891,229 - 5,903,790 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl195,891,276 - 5,904,006 (-)EnsemblGRCh38hg38GRCh38
GRCh37195,891,240 - 5,903,801 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36195,845,686 - 5,855,025 (-)NCBINCBI36Build 36hg18NCBI36
Build 34195,845,685 - 5,855,025NCBI
Celera195,830,248 - 5,842,986 (-)NCBICelera
Cytogenetic Map19p13.3NCBI
HuRef195,650,763 - 5,663,502 (-)NCBIHuRef
CHM1_1195,891,532 - 5,904,277 (-)NCBICHM1_1
T2T-CHM13v2.0195,878,657 - 5,891,220 (-)NCBIT2T-CHM13v2.0
Ndufa11
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391757,024,762 - 57,031,248 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1757,024,767 - 57,029,141 (+)EnsemblGRCm39 Ensembl
GRCm381756,717,762 - 56,724,248 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1756,717,767 - 56,722,141 (+)EnsemblGRCm38mm10GRCm38
MGSCv371756,857,185 - 56,863,671 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361756,402,886 - 56,407,816 (+)NCBIMGSCv36mm8
Celera1761,061,897 - 61,068,383 (+)NCBICelera
Cytogenetic Map17DNCBI
cM Map1729.47NCBI
Ndufa11
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr891,637,614 - 1,641,673 (+)NCBIGRCr8
mRatBN7.291,550,487 - 1,554,546 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl91,550,468 - 1,555,601 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx91,984,630 - 1,988,692 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.097,333,716 - 7,337,779 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.096,289,827 - 6,293,889 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0910,334,104 - 10,338,163 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl910,334,090 - 10,338,216 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.099,331,184 - 9,335,243 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera96,962,202 - 6,966,261 (-)NCBICelera
Cytogenetic Map9q11NCBI
Ndufa11
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554953,557,016 - 3,564,999 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554953,557,016 - 3,564,999 (+)NCBIChiLan1.0ChiLan1.0
NDUFA11
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22010,295,409 - 10,304,660 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1199,521,617 - 9,530,800 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0194,912,557 - 4,925,203 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1195,843,085 - 5,854,846 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl195,843,085 - 5,854,797 (-)Ensemblpanpan1.1panPan2
NDUFA11
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12054,183,584 - 54,189,435 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2053,927,083 - 53,932,783 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02054,834,771 - 54,840,499 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2054,834,781 - 54,840,496 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12053,901,171 - 53,906,885 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02054,350,035 - 54,355,744 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02054,580,210 - 54,585,910 (+)NCBIUU_Cfam_GSD_1.0
Ndufa11
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118214,444,923 - 214,451,109 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365883,383,509 - 3,390,087 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365883,383,674 - 3,389,862 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NDUFA11
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl273,130,403 - 73,137,916 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1273,131,029 - 73,137,921 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2273,675,744 - 73,682,635 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NDUFA11
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.165,517,871 - 5,529,754 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl65,517,797 - 5,529,455 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660812,507,925 - 2,515,866 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ndufa11
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248284,319,665 - 4,328,273 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248284,319,657 - 4,328,273 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NDUFA11
108 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NDUFA11, IVS1DS, G-A, +5 single nucleotide variant Mitochondrial complex I deficiency [RCV000000544] Chr19:19p13.3 pathogenic
NM_175614.5(NDUFA11):c.97+5G>A single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 14 [RCV000000544]|not provided [RCV000521728] Chr19:5903607 [GRCh38]
Chr19:5903618 [GRCh37]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:265917-8564134)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|See cases [RCV000052876] Chr19:265917..8564134 [GRCh38]
Chr19:265917..8629018 [GRCh37]
Chr19:216917..8535018 [NCBI36]
Chr19:19p13.3-13.2		 pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3 copy number gain See cases [RCV000052879] Chr19:1972245..9648879 [GRCh38]
Chr19:1972244..9759555 [GRCh37]
Chr19:1923244..9620555 [NCBI36]
Chr19:19p13.3-13.2		 pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:4039158-9176125)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052881]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052881]|See cases [RCV000052881] Chr19:4039158..9176125 [GRCh38]
Chr19:4039156..9286801 [GRCh37]
Chr19:3990156..9147801 [NCBI36]
Chr19:19p13.3-13.2		 pathogenic
GRCh38/hg38 19p13.3(chr19:4934885-6501642)x3 copy number gain See cases [RCV000052882] Chr19:4934885..6501642 [GRCh38]
Chr19:4934897..6501653 [GRCh37]
Chr19:4885897..6452653 [NCBI36]
Chr19:19p13.3		 pathogenic
NM_175614.4(NDUFA11):c.365C>T (p.Ala122Val) single nucleotide variant Malignant melanoma [RCV000072330] Chr19:5894803 [GRCh38]
Chr19:5894814 [GRCh37]
Chr19:5845814 [NCBI36]
Chr19:19p13.3		 not provided
NM_001193375.3(NDUFA11):c.390G>A (p.Gln130=) single nucleotide variant not specified [RCV000127106] Chr19:5893214 [GRCh38]
Chr19:5893225 [GRCh37]
Chr19:19p13.3		 benign
NM_175614.5(NDUFA11):c.48C>T (p.Thr16=) single nucleotide variant Mitochondrial complex I deficiency, nuclear type 1 [RCV001135436]|not provided [RCV000756412]|not specified [RCV000127107] Chr19:5903661 [GRCh38]
Chr19:5903672 [GRCh37]
Chr19:19p13.3		 benign|uncertain significance
NM_175614.5(NDUFA11):c.6G>C (p.Ala2=) single nucleotide variant not provided [RCV002189321] Chr19:5903703 [GRCh38]
Chr19:5903714 [GRCh37]
Chr19:19p13.3		 likely benign
GRCh38/hg38 19p13.3(chr19:259395-6795611)x3 copy number gain See cases [RCV000142627] Chr19:259395..6795611 [GRCh38]
Chr19:259395..6795622 [GRCh37]
Chr19:210395..6746622 [NCBI36]
Chr19:19p13.3		 pathogenic
NM_175614.5(NDUFA11):c.245A>G (p.Glu82Gly) single nucleotide variant not provided [RCV000200303] Chr19:5896521 [GRCh38]
Chr19:5896532 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001193375.3(NDUFA11):c.394G>C (p.Ala132Pro) single nucleotide variant not specified [RCV000200858] Chr19:5893210 [GRCh38]
Chr19:5893221 [GRCh37]
Chr19:19p13.3		 benign
NM_001193375.3(NDUFA11):c.614C>G (p.Ala205Gly) single nucleotide variant not specified [RCV000197249] Chr19:5892990 [GRCh38]
Chr19:5893001 [GRCh37]
Chr19:19p13.3		 likely benign
NM_175614.5(NDUFA11):c.311G>T (p.Arg104Leu) single nucleotide variant Mitochondrial complex I deficiency, nuclear type 1 [RCV000765475]|not provided [RCV000197389] Chr19:5896455 [GRCh38]
Chr19:5896466 [GRCh37]
Chr19:19p13.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_175614.5(NDUFA11):c.138G>A (p.Pro46=) single nucleotide variant Mitochondrial complex I deficiency, nuclear type 1 [RCV000382120]|NDUFA11-related condition [RCV003947634]|not provided [RCV000914175] Chr19:5896957 [GRCh38]
Chr19:5896968 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_175614.5(NDUFA11):c.314-2A>G single nucleotide variant not provided [RCV000195679] Chr19:5894856 [GRCh38]
Chr19:5894867 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_175614.5(NDUFA11):c.30G>T (p.Trp10Cys) single nucleotide variant not provided [RCV000199263] Chr19:5903679 [GRCh38]
Chr19:5903690 [GRCh37]
Chr19:19p13.3		 likely pathogenic|uncertain significance
NM_175614.5(NDUFA11):c.54C>T (p.Cys18=) single nucleotide variant NDUFA11-related condition [RCV003945488]|not provided [RCV000896545] Chr19:5903655 [GRCh38]
Chr19:5903666 [GRCh37]
Chr19:19p13.3		 benign|likely benign
NM_175614.4(NDUFA11):c.-300G>A single nucleotide variant Mitochondrial complex I deficiency, nuclear type 1 [RCV000301439]|not provided [RCV001770263] Chr19:5904008 [GRCh38]
Chr19:5904019 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_175614.5(NDUFA11):c.*59C>G single nucleotide variant Mitochondrial complex I deficiency, nuclear type 1 [RCV000321494] Chr19:5894683 [GRCh38]
Chr19:5894694 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_175614.5(NDUFA11):c.*55G>C single nucleotide variant Mitochondrial complex I deficiency, nuclear type 1 [RCV000378538] Chr19:5894687 [GRCh38]
Chr19:5894698 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_175614.4(NDUFA11):c.-83G>C single nucleotide variant Mitochondrial complex I deficiency, nuclear type 1 [RCV000386066] Chr19:5903791 [GRCh38]
Chr19:5903802 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_175614.4(NDUFA11):c.-217A>G single nucleotide variant Mitochondrial complex I deficiency, nuclear type 1 [RCV000336107]|not provided [RCV001712053] Chr19:5903925 [GRCh38]
Chr19:5903936 [GRCh37]
Chr19:19p13.3		 benign|likely benign
NM_175614.4(NDUFA11):c.-88C>A single nucleotide variant Mitochondrial complex I deficiency, nuclear type 1 [RCV000294085]|not provided [RCV001613069] Chr19:5903796 [GRCh38]
Chr19:5903807 [GRCh37]
Chr19:19p13.3		 benign|likely benign
NM_175614.4(NDUFA11):c.-205_-204CT[2] microsatellite Mitochondrial complex I deficiency [RCV000400628] Chr19:5903908..5903909 [GRCh38]
Chr19:5903919..5903920 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001193375.3(NDUFA11):c.314-1391GT[4] microsatellite Mitochondrial complex I deficiency [RCV000264047] Chr19:5894672..5894673 [GRCh38]
Chr19:5894683..5894684 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_175614.4(NDUFA11):c.-234T>C single nucleotide variant Mitochondrial complex I deficiency, nuclear type 1 [RCV000408273] Chr19:5903942 [GRCh38]
Chr19:5903953 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_175614.4(NDUFA11):c.-143C>G single nucleotide variant Mitochondrial complex I deficiency, nuclear type 1 [RCV000351225] Chr19:5903851 [GRCh38]
Chr19:5903862 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_175614.5(NDUFA11):c.-51T>G single nucleotide variant Mitochondrial complex I deficiency, nuclear type 1 [RCV000347902] Chr19:5903759 [GRCh38]
Chr19:5903770 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_175614.4(NDUFA11):c.-210T>C single nucleotide variant Mitochondrial complex I deficiency, nuclear type 1 [RCV000297568] Chr19:5903918 [GRCh38]
Chr19:5903929 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_175614.5(NDUFA11):c.233C>T (p.Ala78Val) single nucleotide variant Mitochondrial complex I deficiency, nuclear type 1 [RCV000325113] Chr19:5896533 [GRCh38]
Chr19:5896544 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_175614.5(NDUFA11):c.-31G>A single nucleotide variant Mitochondrial complex I deficiency, nuclear type 1 [RCV000290662] Chr19:5903739 [GRCh38]
Chr19:5903750 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_175614.5(NDUFA11):c.313+1G>A single nucleotide variant not provided [RCV000412826] Chr19:5896452 [GRCh38]
Chr19:5896463 [GRCh37]
Chr19:19p13.3		 likely pathogenic
NM_175614.5(NDUFA11):c.-43C>T single nucleotide variant not specified [RCV000431062] Chr19:5903751 [GRCh38]
Chr19:5903762 [GRCh37]
Chr19:19p13.3		 likely benign
NM_001193375.3(NDUFA11):c.672G>A (p.Ser224=) single nucleotide variant not provided [RCV001311149]|not specified [RCV000432061] Chr19:5892932 [GRCh38]
Chr19:5892943 [GRCh37]
Chr19:19p13.3		 likely benign
NM_175614.5(NDUFA11):c.313+10C>A single nucleotide variant not specified [RCV000442699] Chr19:5896443 [GRCh38]
Chr19:5896454 [GRCh37]
Chr19:19p13.3		 likely benign
NM_175614.5(NDUFA11):c.98-14C>T single nucleotide variant not specified [RCV000421653] Chr19:5897011 [GRCh38]
Chr19:5897022 [GRCh37]
Chr19:19p13.3		 likely benign
NM_175614.5(NDUFA11):c.97+1G>A single nucleotide variant not provided [RCV000428019] Chr19:5903611 [GRCh38]
Chr19:5903622 [GRCh37]
Chr19:19p13.3		 likely pathogenic
NM_175614.5(NDUFA11):c.98-5C>T single nucleotide variant not provided [RCV002521597]|not specified [RCV000440273] Chr19:5897002 [GRCh38]
Chr19:5897013 [GRCh37]
Chr19:19p13.3		 likely benign
NM_175614.5(NDUFA11):c.98-4G>A single nucleotide variant not provided [RCV000913735]|not specified [RCV000420261] Chr19:5897001 [GRCh38]
Chr19:5897012 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
NM_175614.5(NDUFA11):c.-33G>T single nucleotide variant not specified [RCV000607915] Chr19:5903741 [GRCh38]
Chr19:5903752 [GRCh37]
Chr19:19p13.3		 likely benign
NM_175614.5(NDUFA11):c.191-12T>C single nucleotide variant not provided [RCV002529407]|not specified [RCV000611885] Chr19:5896587 [GRCh38]
Chr19:5896598 [GRCh37]
Chr19:19p13.3		 likely benign
GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3 copy number gain not provided [RCV000684096] Chr19:3120160..9732820 [GRCh37]
Chr19:19p13.3-13.2		 pathogenic
NM_001193375.3(NDUFA11):c.460G>T (p.Glu154Ter) single nucleotide variant NDUFA11-related condition [RCV003910981]|not provided [RCV001725883] Chr19:5893144 [GRCh38]
Chr19:5893155 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_001193375.3(NDUFA11):c.314-324T>A single nucleotide variant not provided [RCV001530614] Chr19:5893614 [GRCh38]
Chr19:5893625 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3(chr19:5455422-5995450)x3 copy number gain not provided [RCV000740012] Chr19:5455422..5995450 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:5823903-6175936)x3 copy number gain not provided [RCV000740019] Chr19:5823903..6175936 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:5897610-5905141)x1 copy number loss not provided [RCV000740020] Chr19:5897610..5905141 [GRCh37]
Chr19:19p13.3		 benign
NM_001193375.3(NDUFA11):c.557C>T (p.Ala186Val) single nucleotide variant not provided [RCV001645193] Chr19:5893047 [GRCh38]
Chr19:5893058 [GRCh37]
Chr19:19p13.3		 benign
NM_175614.5(NDUFA11):c.324C>T (p.Tyr108=) single nucleotide variant not provided [RCV000942487] Chr19:5894844 [GRCh38]
Chr19:5894855 [GRCh37]
Chr19:19p13.3		 likely benign
NM_175614.5(NDUFA11):c.97+144G>C single nucleotide variant not provided [RCV000835718] Chr19:5903468 [GRCh38]
Chr19:5903479 [GRCh37]
Chr19:19p13.3		 benign
NM_175614.5(NDUFA11):c.190+150G>A single nucleotide variant not provided [RCV000835719] Chr19:5896755 [GRCh38]
Chr19:5896766 [GRCh37]
Chr19:19p13.3		 benign
NM_175614.5(NDUFA11):c.98-109A>G single nucleotide variant not provided [RCV000835777] Chr19:5897106 [GRCh38]
Chr19:5897117 [GRCh37]
Chr19:19p13.3		 likely benign
NM_175614.5(NDUFA11):c.190+9G>A single nucleotide variant not provided [RCV000916063] Chr19:5896896 [GRCh38]
Chr19:5896907 [GRCh37]
Chr19:19p13.3		 likely benign
NM_175614.5(NDUFA11):c.234C>T (p.Ala78=) single nucleotide variant Mitochondrial complex I deficiency, nuclear type 1 [RCV001135433] Chr19:5896532 [GRCh38]
Chr19:5896543 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_175614.5(NDUFA11):c.288C>T (p.Ala96=) single nucleotide variant Mitochondrial complex I deficiency, nuclear type 1 [RCV001135432] Chr19:5896478 [GRCh38]
Chr19:5896489 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_175614.5(NDUFA11):c.64G>T (p.Ala22Ser) single nucleotide variant Mitochondrial complex I deficiency, nuclear type 1 [RCV001135435] Chr19:5903645 [GRCh38]
Chr19:5903656 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_175614.4(NDUFA11):c.-282T>C single nucleotide variant Mitochondrial complex I deficiency, nuclear type 1 [RCV001131101] Chr19:5903990 [GRCh38]
Chr19:5904001 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_175614.5(NDUFA11):c.104C>G (p.Thr35Ser) single nucleotide variant Mitochondrial complex I deficiency, nuclear type 1 [RCV001135434] Chr19:5896991 [GRCh38]
Chr19:5897002 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001193375.3(NDUFA11):c.*158G>A single nucleotide variant not provided [RCV001643269] Chr19:5892759 [GRCh38]
Chr19:5892770 [GRCh37]
Chr19:19p13.3		 benign
NM_001193375.3(NDUFA11):c.*244G>A single nucleotide variant not provided [RCV001654194] Chr19:5892673 [GRCh38]
Chr19:5892684 [GRCh37]
Chr19:19p13.3		 benign
NM_175614.5(NDUFA11):c.314-330G>A single nucleotide variant not provided [RCV001616388] Chr19:5895184 [GRCh38]
Chr19:5895195 [GRCh37]
Chr19:19p13.3		 benign
NM_175614.5(NDUFA11):c.345C>T (p.Cys115=) single nucleotide variant Mitochondrial complex I deficiency, nuclear type 1 [RCV001133936]|not provided [RCV000926141] Chr19:5894823 [GRCh38]
Chr19:5894834 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_175614.5(NDUFA11):c.*63G>A single nucleotide variant Mitochondrial complex I deficiency, nuclear type 1 [RCV001133935] Chr19:5894679 [GRCh38]
Chr19:5894690 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001193375.3(NDUFA11):c.314-1344C>G single nucleotide variant not provided [RCV001713493] Chr19:5894634 [GRCh38]
Chr19:5894645 [GRCh37]
Chr19:19p13.3		 benign
NM_001193375.3(NDUFA11):c.*185G>A single nucleotide variant not provided [RCV001688606] Chr19:5892732 [GRCh38]
Chr19:5892743 [GRCh37]
Chr19:19p13.3		 benign
NC_000019.10:g.5904058G>A single nucleotide variant not provided [RCV001716662] Chr19:5904058 [GRCh38]
Chr19:5904069 [GRCh37]
Chr19:19p13.3		 benign
NC_000019.10:g.5904342C>T single nucleotide variant not provided [RCV001693889] Chr19:5904342 [GRCh38]
Chr19:5904353 [GRCh37]
Chr19:19p13.3		 benign
NM_001193375.3(NDUFA11):c.*131A>G single nucleotide variant not provided [RCV001680661] Chr19:5892786 [GRCh38]
Chr19:5892797 [GRCh37]
Chr19:19p13.3		 benign
NM_001193375.3(NDUFA11):c.314-1283C>T single nucleotide variant not provided [RCV001614360] Chr19:5894573 [GRCh38]
Chr19:5894584 [GRCh37]
Chr19:19p13.3		 benign
NM_175614.5(NDUFA11):c.116A>G (p.Tyr39Cys) single nucleotide variant not provided [RCV001352054] Chr19:5896979 [GRCh38]
Chr19:5896990 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_175614.5(NDUFA11):c.205G>A (p.Val69Met) single nucleotide variant Mitochondrial complex I deficiency, nuclear type 1 [RCV001330535]|not provided [RCV001863224] Chr19:5896561 [GRCh38]
Chr19:5896572 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_175614.5(NDUFA11):c.362C>T (p.Ala121Val) single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 14 [RCV001330536] Chr19:5894806 [GRCh38]
Chr19:5894817 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001193375.3(NDUFA11):c.661A>G (p.Thr221Ala) single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 14 [RCV001779252]|not provided [RCV001540607] Chr19:5892943 [GRCh38]
Chr19:5892954 [GRCh37]
Chr19:19p13.3		 benign
NC_000019.10:g.5904056C>T single nucleotide variant not provided [RCV001671184] Chr19:5904056 [GRCh38]
Chr19:5904067 [GRCh37]
Chr19:19p13.3		 benign
NM_175614.5(NDUFA11):c.242G>A (p.Arg81His) single nucleotide variant not provided [RCV003109123] Chr19:5896524 [GRCh38]
Chr19:5896535 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_5678562)_(5903719_?)dup duplication not provided [RCV002239957] Chr19:5678562..5903719 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_175614.5(NDUFA11):c.191-80T>C single nucleotide variant not provided [RCV001752896] Chr19:5896655 [GRCh38]
Chr19:5896666 [GRCh37]
Chr19:19p13.3		 likely benign
NM_001193375.3(NDUFA11):c.517T>A (p.Cys173Ser) single nucleotide variant not provided [RCV001768177] Chr19:5893087 [GRCh38]
Chr19:5893098 [GRCh37]
Chr19:19p13.3		 likely benign
NM_001193375.3(NDUFA11):c.314-216C>T single nucleotide variant not provided [RCV001753029] Chr19:5893506 [GRCh38]
Chr19:5893517 [GRCh37]
Chr19:19p13.3		 likely benign
NM_001193375.3(NDUFA11):c.*105C>G single nucleotide variant not provided [RCV001759365] Chr19:5892812 [GRCh38]
Chr19:5892823 [GRCh37]
Chr19:19p13.3		 likely benign
NM_175614.5(NDUFA11):c.313+3G>A single nucleotide variant NDUFA11-related condition [RCV003941125]|not provided [RCV001753117] Chr19:5896450 [GRCh38]
Chr19:5896461 [GRCh37]
Chr19:19p13.3		 likely benign
NC_000019.10:g.5904050G>A single nucleotide variant not provided [RCV001753149] Chr19:5904050 [GRCh38]
Chr19:5904061 [GRCh37]
Chr19:19p13.3		 likely benign
NM_175614.5(NDUFA11):c.323A>T (p.Tyr108Phe) single nucleotide variant not provided [RCV001814834] Chr19:5894845 [GRCh38]
Chr19:5894856 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_175614.5(NDUFA11):c.65C>T (p.Ala22Val) single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 14 [RCV001824267] Chr19:5903644 [GRCh38]
Chr19:5903655 [GRCh37]
Chr19:19p13.3		 likely pathogenic
NM_175614.5(NDUFA11):c.409G>A (p.Ala137Thr) single nucleotide variant not provided [RCV001985677] Chr19:5894759 [GRCh38]
Chr19:5894770 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_175614.5(NDUFA11):c.313+6T>C single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 14 [RCV001824278]|not provided [RCV002034675] Chr19:5896447 [GRCh38]
Chr19:5896458 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_175614.5(NDUFA11):c.311G>A (p.Arg104His) single nucleotide variant not provided [RCV001983489] Chr19:5896455 [GRCh38]
Chr19:5896466 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_175614.5(NDUFA11):c.32A>C (p.Asp11Ala) single nucleotide variant not provided [RCV001967507] Chr19:5903677 [GRCh38]
Chr19:5903688 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_175614.5(NDUFA11):c.59G>A (p.Arg20His) single nucleotide variant not provided [RCV001894648] Chr19:5903650 [GRCh38]
Chr19:5903661 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_5894753)_(5903719_?)dup duplication not provided [RCV001943309] Chr19:5894753..5903719 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_175614.5(NDUFA11):c.334G>A (p.Ala112Thr) single nucleotide variant not provided [RCV001982506] Chr19:5894834 [GRCh38]
Chr19:5894845 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_175614.5(NDUFA11):c.136C>G (p.Pro46Ala) single nucleotide variant not provided [RCV002031797] Chr19:5896959 [GRCh38]
Chr19:5896970 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_175614.5(NDUFA11):c.256G>A (p.Asp86Asn) single nucleotide variant Inborn genetic diseases [RCV002573525]|not provided [RCV001991094] Chr19:5896510 [GRCh38]
Chr19:5896521 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_175614.5(NDUFA11):c.385C>T (p.Arg129Trp) single nucleotide variant not provided [RCV001971930] Chr19:5894783 [GRCh38]
Chr19:5894794 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_175614.5(NDUFA11):c.292G>T (p.Gly98Cys) single nucleotide variant not provided [RCV001897030] Chr19:5896474 [GRCh38]
Chr19:5896485 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_5678562)_(5897028_?)dup duplication not provided [RCV001918791] Chr19:5678562..5897028 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_175614.5(NDUFA11):c.314-6C>T single nucleotide variant not provided [RCV002104357] Chr19:5894860 [GRCh38]
Chr19:5894871 [GRCh37]
Chr19:19p13.3		 likely benign
NM_175614.5(NDUFA11):c.98-17C>G single nucleotide variant not provided [RCV002150927] Chr19:5897014 [GRCh38]
Chr19:5897025 [GRCh37]
Chr19:19p13.3		 likely benign
NM_175614.5(NDUFA11):c.204C>T (p.Ala68=) single nucleotide variant not provided [RCV002140197] Chr19:5896562 [GRCh38]
Chr19:5896573 [GRCh37]
Chr19:19p13.3		 likely benign
NM_175614.5(NDUFA11):c.276C>T (p.Leu92=) single nucleotide variant NDUFA11-related condition [RCV003933334]|not provided [RCV002218270] Chr19:5896490 [GRCh38]
Chr19:5896501 [GRCh37]
Chr19:19p13.3		 likely benign
NM_175614.5(NDUFA11):c.97+16G>T single nucleotide variant not provided [RCV002140287] Chr19:5903596 [GRCh38]
Chr19:5903607 [GRCh37]
Chr19:19p13.3		 likely benign
NM_175614.5(NDUFA11):c.374T>C (p.Val125Ala) single nucleotide variant not provided [RCV003121862] Chr19:5894794 [GRCh38]
Chr19:5894805 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001193375.3(NDUFA11):c.494C>T (p.Ala165Val) single nucleotide variant Inborn genetic diseases [RCV003096141]|Mitochondrial complex 1 deficiency, nuclear type 14 [RCV002272866] Chr19:5893110 [GRCh38]
Chr19:5893121 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_175614.5(NDUFA11):c.191-31G>A single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 14 [RCV003148183] Chr19:5896606 [GRCh38]
Chr19:5896617 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_175614.5(NDUFA11):c.289G>A (p.Gly97Arg) single nucleotide variant not provided [RCV002613784] Chr19:5896477 [GRCh38]
Chr19:5896488 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_175614.5(NDUFA11):c.310C>T (p.Arg104Cys) single nucleotide variant Inborn genetic diseases [RCV003095459]|not provided [RCV003088559] Chr19:5896456 [GRCh38]
Chr19:5896467 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_175614.5(NDUFA11):c.85G>T (p.Ala29Ser) single nucleotide variant Inborn genetic diseases [RCV002905822] Chr19:5903624 [GRCh38]
Chr19:5903635 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001193375.3(NDUFA11):c.512G>A (p.Gly171Glu) single nucleotide variant Inborn genetic diseases [RCV002733558] Chr19:5893092 [GRCh38]
Chr19:5893103 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_175614.5(NDUFA11):c.255C>A (p.Asp85Glu) single nucleotide variant not provided [RCV002593335] Chr19:5896511 [GRCh38]
Chr19:5896522 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_175614.5(NDUFA11):c.347T>C (p.Val116Ala) single nucleotide variant not provided [RCV002659403] Chr19:5894821 [GRCh38]
Chr19:5894832 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_175614.5(NDUFA11):c.384C>T (p.Gly128=) single nucleotide variant not provided [RCV002706348] Chr19:5894784 [GRCh38]
Chr19:5894795 [GRCh37]
Chr19:19p13.3		 likely benign
NM_175614.5(NDUFA11):c.239T>C (p.Val80Ala) single nucleotide variant Inborn genetic diseases [RCV002641853] Chr19:5896527 [GRCh38]
Chr19:5896538 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_175614.5(NDUFA11):c.249G>C (p.Lys83Asn) single nucleotide variant Inborn genetic diseases [RCV002712736] Chr19:5896517 [GRCh38]
Chr19:5896528 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_175614.5(NDUFA11):c.286G>A (p.Ala96Thr) single nucleotide variant Inborn genetic diseases [RCV002713806] Chr19:5896480 [GRCh38]
Chr19:5896491 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_175614.5(NDUFA11):c.8C>T (p.Pro3Leu) single nucleotide variant not provided [RCV002594999] Chr19:5903701 [GRCh38]
Chr19:5903712 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_175614.5(NDUFA11):c.244G>A (p.Glu82Lys) single nucleotide variant not provided [RCV003082816] Chr19:5896522 [GRCh38]
Chr19:5896533 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001193375.3(NDUFA11):c.548A>G (p.Glu183Gly) single nucleotide variant Inborn genetic diseases [RCV002788754] Chr19:5893056 [GRCh38]
Chr19:5893067 [GRCh37]
Chr19:19p13.3		 likely benign
NM_175614.5(NDUFA11):c.285C>A (p.Cys95Ter) single nucleotide variant not provided [RCV002829689] Chr19:5896481 [GRCh38]
Chr19:5896492 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_175614.5(NDUFA11):c.4G>A (p.Ala2Thr) single nucleotide variant not provided [RCV002600327] Chr19:5903705 [GRCh38]
Chr19:5903716 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_175614.5(NDUFA11):c.98-17C>T single nucleotide variant not provided [RCV002811807] Chr19:5897014 [GRCh38]
Chr19:5897025 [GRCh37]
Chr19:19p13.3		 likely benign
NM_175614.5(NDUFA11):c.190+8C>T single nucleotide variant not provided [RCV002717340] Chr19:5896897 [GRCh38]
Chr19:5896908 [GRCh37]
Chr19:19p13.3		 likely benign
NM_175614.5(NDUFA11):c.97+12C>T single nucleotide variant not provided [RCV002715484] Chr19:5903600 [GRCh38]
Chr19:5903611 [GRCh37]
Chr19:19p13.3		 likely benign
NM_175614.5(NDUFA11):c.106G>A (p.Ala36Thr) single nucleotide variant Inborn genetic diseases [RCV003250730]|not provided [RCV003068486] Chr19:5896989 [GRCh38]
Chr19:5897000 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_175614.5(NDUFA11):c.299C>T (p.Thr100Ile) single nucleotide variant not provided [RCV002609285] Chr19:5896467 [GRCh38]
Chr19:5896478 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_175614.5(NDUFA11):c.232G>A (p.Ala78Thr) single nucleotide variant not provided [RCV002635376] Chr19:5896534 [GRCh38]
Chr19:5896545 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_175614.5(NDUFA11):c.105C>G (p.Thr35=) single nucleotide variant not provided [RCV003050453] Chr19:5896990 [GRCh38]
Chr19:5897001 [GRCh37]
Chr19:19p13.3		 likely benign
NM_001193375.3(NDUFA11):c.470_471del (p.Ser157fs) microsatellite Mitochondrial complex 1 deficiency, nuclear type 14 [RCV003148200] Chr19:5893133..5893134 [GRCh38]
Chr19:5893144..5893145 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001193375.3(NDUFA11):c.559C>T (p.Arg187Trp) single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 14 [RCV003333344] Chr19:5893045 [GRCh38]
Chr19:5893056 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3 copy number gain not provided [RCV003485190] Chr19:260912..7246777 [GRCh37]
Chr19:19p13.3-13.2		 pathogenic
NM_175614.5(NDUFA11):c.39C>G (p.Pro13=) single nucleotide variant not provided [RCV003423257] Chr19:5903670 [GRCh38]
Chr19:5903681 [GRCh37]
Chr19:19p13.3		 likely benign
NM_175614.5(NDUFA11):c.363G>A (p.Ala121=) single nucleotide variant not provided [RCV003832195] Chr19:5894805 [GRCh38]
Chr19:5894816 [GRCh37]
Chr19:19p13.3		 likely benign
NM_175614.5(NDUFA11):c.313+9C>T single nucleotide variant not provided [RCV003866037] Chr19:5896444 [GRCh38]
Chr19:5896455 [GRCh37]
Chr19:19p13.3		 likely benign
NM_175614.5(NDUFA11):c.191-5C>T single nucleotide variant NDUFA11-related condition [RCV003917266] Chr19:5896580 [GRCh38]
Chr19:5896591 [GRCh37]
Chr19:19p13.3		 likely benign
NM_001193375.3(NDUFA11):c.362C>T (p.Ser121Leu) single nucleotide variant NDUFA11-related condition [RCV003969801] Chr19:5893242 [GRCh38]
Chr19:5893253 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_175614.5(NDUFA11):c.147C>T (p.Phe49=) single nucleotide variant NDUFA11-related condition [RCV003951699] Chr19:5896948 [GRCh38]
Chr19:5896959 [GRCh37]
Chr19:19p13.3		 likely benign
NM_001193375.3(NDUFA11):c.378C>T (p.Thr126=) single nucleotide variant NDUFA11-related condition [RCV003969549] Chr19:5893226 [GRCh38]
Chr19:5893237 [GRCh37]
Chr19:19p13.3		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3934
Count of miRNA genes:1087
Interacting mature miRNAs:1356
Transcripts:ENST00000308961, ENST00000418389, ENST00000591160, ENST00000591341, ENST00000592634, ENST00000593233
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.

Markers in Region
STS-N92586  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37195,894,704 - 5,894,829UniSTSGRCh37
Build 36195,845,704 - 5,845,829RGDNCBI36
Celera195,833,665 - 5,833,790RGD
Cytogenetic Map19p13.3UniSTS
HuRef195,654,180 - 5,654,305UniSTS
GeneMap99-GB4 RH Map1935.78UniSTS
NCBI RH Map1910.0UniSTS
SHGC-110515  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37195,899,844 - 5,900,117UniSTSGRCh37
Build 36195,850,844 - 5,851,117RGDNCBI36
Celera195,838,805 - 5,839,078RGD
Cytogenetic Map19p13.3UniSTS
HuRef195,659,321 - 5,659,594UniSTS
TNG Radiation Hybrid Map19905.0UniSTS


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 2407 2728 1678 581 1580 423 4351 2148 3530 391 1425 1600 171 1204 2788 3
Low 31 261 45 42 369 42 5 49 193 28 33 10 3 1 2 1
Below cutoff 1 3 1 9 1 1 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_027808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001193375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_175614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_034166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC024592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC104532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI125604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI272174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ539081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL546175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY726561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI160094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP432135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ054257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ671956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ955016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS072484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NTIA01000094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000308961   ⟹   ENSP00000311740
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl195,894,675 - 5,903,790 (-)Ensembl
RefSeq Acc Id: ENST00000418389   ⟹   ENSP00000389160
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl195,891,276 - 5,903,786 (-)Ensembl
RefSeq Acc Id: ENST00000591160
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl195,902,431 - 5,904,006 (-)Ensembl
RefSeq Acc Id: ENST00000591341
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl195,894,681 - 5,896,681 (-)Ensembl
RefSeq Acc Id: ENST00000592634   ⟹   ENSP00000467706
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl195,894,675 - 5,903,771 (-)Ensembl
RefSeq Acc Id: ENST00000593233
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl195,894,677 - 5,903,754 (-)Ensembl
RefSeq Acc Id: ENST00000650663
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl195,894,906 - 5,903,783 (-)Ensembl
RefSeq Acc Id: NM_001193375   ⟹   NP_001180304
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38195,891,229 - 5,903,790 (-)NCBI
GRCh37195,891,287 - 5,904,024 (-)RGD
Celera195,830,248 - 5,842,986 (-)RGD
HuRef195,650,763 - 5,663,502 (-)ENTREZGENE
CHM1_1195,891,532 - 5,904,277 (-)NCBI
T2T-CHM13v2.0195,878,657 - 5,891,220 (-)NCBI
Sequence:
RefSeq Acc Id: NM_175614   ⟹   NP_783313
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38195,894,675 - 5,903,790 (-)NCBI
GRCh37195,891,287 - 5,904,024 (-)RGD
Build 36195,845,686 - 5,855,025 (-)NCBI Archive
Celera195,830,248 - 5,842,986 (-)RGD
HuRef195,650,763 - 5,663,502 (-)ENTREZGENE
CHM1_1195,894,926 - 5,904,277 (-)NCBI
T2T-CHM13v2.0195,882,103 - 5,891,220 (-)NCBI
Sequence:
RefSeq Acc Id: NR_034166
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38195,894,675 - 5,903,790 (-)NCBI
GRCh37195,891,287 - 5,904,024 (-)RGD
Celera195,830,248 - 5,842,986 (-)RGD
HuRef195,650,763 - 5,663,502 (-)ENTREZGENE
CHM1_1195,894,926 - 5,904,277 (-)NCBI
T2T-CHM13v2.0195,882,103 - 5,891,220 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_001180304   ⟸   NM_001193375
- Peptide Label: isoform 2
- UniProtKB: Q86Y39 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_783313   ⟸   NM_175614
- Peptide Label: isoform 1
- UniProtKB: C9JT23 (UniProtKB/Swiss-Prot),   Q6ZS66 (UniProtKB/Swiss-Prot),   Q86Y39 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000311740   ⟸   ENST00000308961
RefSeq Acc Id: ENSP00000389160   ⟸   ENST00000418389
RefSeq Acc Id: ENSP00000467706   ⟸   ENST00000592634

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q86Y39-F1-model_v2 AlphaFold Q86Y39 1-141 view protein structure

Promoters
RGD ID:6795876
Promoter ID:HG_KWN:28632
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_175614,   UC002MDP.1,   UC002MDR.1,   UC010DUO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36195,854,706 - 5,855,847 (-)MPROMDB
RGD ID:7238185
Promoter ID:EPDNEW_H24837
Type:initiation region
Name:NDUFA11_1
Description:NADH:ubiquinone oxidoreductase subunit A11
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38195,903,786 - 5,903,846EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20371 AgrOrtholog
COSMIC NDUFA11 COSMIC
Ensembl Genes ENSG00000174886 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000292058 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000308961 ENTREZGENE
  ENST00000308961.5 UniProtKB/Swiss-Prot
  ENST00000418389 ENTREZGENE
  ENST00000418389.6 UniProtKB/Swiss-Prot
  ENST00000592634.5 UniProtKB/TrEMBL
  ENST00000593233 ENTREZGENE
  ENST00000709622.1 UniProtKB/Swiss-Prot
  ENST00000709624.1 UniProtKB/Swiss-Prot
GTEx ENSG00000174886 GTEx
  ENSG00000292058 GTEx
HGNC ID HGNC:20371 ENTREZGENE
Human Proteome Map NDUFA11 Human Proteome Map
InterPro NDUFA11 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:126328 UniProtKB/Swiss-Prot
NCBI Gene 126328 ENTREZGENE
OMIM 612638 OMIM
PANTHER NADH DEHYDROGENASE [UBIQUINONE] 1 ALPHA SUBCOMPLEX SUBUNIT 11 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR21382 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134914606 PharmGKB
UniProt C9JT23 ENTREZGENE
  K7EQ77_HUMAN UniProtKB/TrEMBL
  NDUAB_HUMAN UniProtKB/Swiss-Prot
  Q6ZS66 ENTREZGENE
  Q86Y39 ENTREZGENE
UniProt Secondary C9JT23 UniProtKB/Swiss-Prot
  Q6ZS66 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 NDUFA11  NADH:ubiquinone oxidoreductase subunit A11    NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa  Symbol and/or name change 5135510 APPROVED