NDUFB9 (NADH:ubiquinone oxidoreductase subunit B9) - Rat Genome Database

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Gene: NDUFB9 (NADH:ubiquinone oxidoreductase subunit B9) Homo sapiens
Analyze
Symbol: NDUFB9
Name: NADH:ubiquinone oxidoreductase subunit B9
RGD ID: 1316117
HGNC Page HGNC
Description: Involved in mitochondrial respiratory chain complex I assembly. Localizes to mitochondrial respiratory chain complex I. Implicated in nuclear type mitochondrial complex I deficiency 24.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: B22; CI-B22; complex I B22 subunit; complex I-B22; DKFZp566O173; FLJ22885; LYR motif-containing protein 3; LYRM3; MC1DN24; NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa; NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9; NADH-ubiquinone oxidoreductase B22 subunit; UQOR22
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: NDUFB9P1   NDUFB9P2   NDUFB9P3  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8124,539,101 - 124,580,648 (+)EnsemblGRCh38hg38GRCh38
GRCh388124,539,123 - 124,549,979 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378125,551,364 - 125,562,220 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368125,620,524 - 125,631,408 (+)NCBINCBI36hg18NCBI36
Build 348125,620,535 - 125,631,399NCBI
Celera8121,739,460 - 121,750,342 (+)NCBI
Cytogenetic Map8q24.13NCBI
HuRef8120,876,813 - 120,887,693 (+)NCBIHuRef
CHM1_18125,591,587 - 125,602,470 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:8661098   PMID:9763677   PMID:9878551   PMID:10077726   PMID:10737800   PMID:10944468   PMID:11042152   PMID:12477932   PMID:12611891   PMID:15146197   PMID:15231747   PMID:15489334  
PMID:16169070   PMID:16189514   PMID:17500595   PMID:17601350   PMID:18029348   PMID:18624398   PMID:18977241   PMID:19064571   PMID:20471030   PMID:20877624   PMID:21873635   PMID:21988832  
PMID:22020285   PMID:22200994   PMID:22658674   PMID:22939629   PMID:23376485   PMID:24344204   PMID:25416956   PMID:25437307   PMID:25544563   PMID:26186194   PMID:26344197   PMID:26354767  
PMID:26641458   PMID:27342126   PMID:27499296   PMID:27626371   PMID:28190767   PMID:28514442   PMID:29117863   PMID:31527615   PMID:31536960   PMID:31617661   PMID:32296183   PMID:32694731  
PMID:32814053   PMID:32877691  


Genomics

Comparative Map Data
NDUFB9
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8124,539,101 - 124,580,648 (+)EnsemblGRCh38hg38GRCh38
GRCh388124,539,123 - 124,549,979 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378125,551,364 - 125,562,220 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368125,620,524 - 125,631,408 (+)NCBINCBI36hg18NCBI36
Build 348125,620,535 - 125,631,399NCBI
Celera8121,739,460 - 121,750,342 (+)NCBI
Cytogenetic Map8q24.13NCBI
HuRef8120,876,813 - 120,887,693 (+)NCBIHuRef
CHM1_18125,591,587 - 125,602,470 (+)NCBICHM1_1
Ndufb9
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391558,805,650 - 58,811,365 (+)NCBIGRCm39mm39
GRCm39 Ensembl1558,805,605 - 58,811,337 (+)Ensembl
GRCm381558,933,801 - 58,939,516 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1558,933,756 - 58,939,488 (+)EnsemblGRCm38mm10GRCm38
MGSCv371558,765,365 - 58,771,044 (+)NCBIGRCm37mm9NCBIm37
MGSCv361558,763,893 - 58,769,572 (+)NCBImm8
Celera1560,463,602 - 60,469,281 (+)NCBICelera
Cytogenetic Map15D1NCBI
Ndufb9
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2790,481,013 - 90,487,360 (+)NCBI
Rnor_6.0 Ensembl798,813,040 - 98,819,452 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0798,813,062 - 98,819,408 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0799,411,587 - 99,417,933 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4795,949,322 - 95,955,668 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1795,983,544 - 95,989,916 (-)NCBI
Celera787,246,352 - 87,252,698 (+)NCBICelera
Cytogenetic Map7q33NCBI
Ndufb9
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555403,198,145 - 3,203,470 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555403,198,140 - 3,203,470 (+)NCBIChiLan1.0ChiLan1.0
NDUFB9
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18123,975,910 - 123,986,781 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8123,975,910 - 123,986,781 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08121,223,857 - 121,234,743 (+)NCBIMhudiblu_PPA_v0panPan3
NDUFB9
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11322,624,929 - 22,632,310 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1322,624,945 - 22,632,310 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1322,590,387 - 22,597,760 (+)NCBI
ROS_Cfam_1.01322,966,848 - 22,974,209 (+)NCBI
UMICH_Zoey_3.11322,687,671 - 22,695,059 (+)NCBI
UNSW_CanFamBas_1.01322,797,216 - 22,804,609 (+)NCBI
UU_Cfam_GSD_1.01323,040,099 - 23,047,497 (+)NCBI
Ndufb9
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530315,692,060 - 15,697,553 (-)NCBI
SpeTri2.0NW_00493647023,118,162 - 23,123,648 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NDUFB9
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl415,075,436 - 15,113,351 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1415,105,305 - 15,113,281 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2415,761,858 - 15,769,836 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NDUFB9
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18119,103,300 - 119,113,440 (+)NCBI
ChlSab1.1 Ensembl8119,102,917 - 119,113,950 (+)Ensembl
Ndufb9
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473530,660,652 - 30,667,395 (-)NCBI

Position Markers
GDB:451700  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map8q13.3UniSTS
STS-AA037796  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map8q13.3UniSTS
GeneMap99-GB4 RH Map7605.54UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:902
Count of miRNA genes:580
Interacting mature miRNAs:622
Transcripts:ENST00000276689, ENST00000517367, ENST00000517830, ENST00000518008, ENST00000518657, ENST00000522532, ENST00000524241
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 2 2 31
Medium 2437 2950 1725 623 1925 464 4357 2182 3734 418 1429 1613 175 1 1204 2788 6 2
Low 39 1 1 26 1 15 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_042266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001311168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC090198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF044956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF067168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF261090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI907018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG703246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG991068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ685604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN410734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB504123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S82655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y16001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000276689   ⟹   ENSP00000276689
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8124,539,123 - 124,549,979 (+)Ensembl
RefSeq Acc Id: ENST00000517367   ⟹   ENSP00000430322
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8124,539,144 - 124,549,978 (+)Ensembl
RefSeq Acc Id: ENST00000517830
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8124,549,774 - 124,552,318 (+)Ensembl
RefSeq Acc Id: ENST00000518008   ⟹   ENSP00000428282
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8124,539,131 - 124,547,438 (+)Ensembl
RefSeq Acc Id: ENST00000518657
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8124,542,940 - 124,549,978 (+)Ensembl
RefSeq Acc Id: ENST00000522532   ⟹   ENSP00000431115
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8124,539,140 - 124,580,648 (+)Ensembl
RefSeq Acc Id: ENST00000524241
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8124,546,678 - 124,549,978 (+)Ensembl
RefSeq Acc Id: ENST00000606244   ⟹   ENSP00000497750
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8124,539,101 - 124,580,648 (+)Ensembl
RefSeq Acc Id: ENST00000676713   ⟹   ENSP00000504795
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8124,539,178 - 124,580,637 (+)Ensembl
RefSeq Acc Id: ENST00000677021   ⟹   ENSP00000504235
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8124,539,123 - 124,580,637 (+)Ensembl
RefSeq Acc Id: ENST00000677095
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8124,554,791 - 124,580,637 (+)Ensembl
RefSeq Acc Id: ENST00000677782
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8124,539,168 - 124,549,974 (+)Ensembl
RefSeq Acc Id: ENST00000677822   ⟹   ENSP00000504813
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8124,539,131 - 124,580,637 (+)Ensembl
RefSeq Acc Id: ENST00000677950   ⟹   ENSP00000504071
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8124,539,178 - 124,550,768 (+)Ensembl
RefSeq Acc Id: ENST00000678753
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8124,547,003 - 124,554,406 (+)Ensembl
RefSeq Acc Id: ENST00000678801
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8124,543,244 - 124,570,925 (+)Ensembl
RefSeq Acc Id: NM_001278645   ⟹   NP_001265574
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388124,539,123 - 124,549,979 (+)NCBI
GRCh378125,551,343 - 125,580,751 (+)NCBI
HuRef8120,876,813 - 120,887,693 (+)NCBI
CHM1_18125,591,587 - 125,602,470 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001278646   ⟹   NP_001265575
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388124,539,123 - 124,549,979 (+)NCBI
HuRef8120,876,813 - 120,887,693 (+)NCBI
CHM1_18125,591,587 - 125,602,470 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001311168   ⟹   NP_001298097
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388124,539,123 - 124,549,979 (+)NCBI
CHM1_18125,591,587 - 125,602,470 (+)NCBI
Sequence:
RefSeq Acc Id: NM_005005   ⟹   NP_004996
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388124,539,123 - 124,549,979 (+)NCBI
GRCh378125,551,343 - 125,580,751 (+)NCBI
Build 368125,620,524 - 125,631,408 (+)NCBI Archive
Celera8121,739,460 - 121,750,342 (+)RGD
HuRef8120,876,813 - 120,887,693 (+)RGD
CHM1_18125,591,587 - 125,602,470 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_004996   ⟸   NM_005005
- Peptide Label: isoform 1
- UniProtKB: Q9Y6M9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001265575   ⟸   NM_001278646
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: NP_001265574   ⟸   NM_001278645
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: NP_001298097   ⟸   NM_001311168
- Peptide Label: isoform 4
- UniProtKB: Q9Y6M9 (UniProtKB/Swiss-Prot),   E9PH64 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000430322   ⟸   ENST00000517367
RefSeq Acc Id: ENSP00000428282   ⟸   ENST00000518008
RefSeq Acc Id: ENSP00000431115   ⟸   ENST00000522532
RefSeq Acc Id: ENSP00000276689   ⟸   ENST00000276689
RefSeq Acc Id: ENSP00000497750   ⟸   ENST00000606244
RefSeq Acc Id: ENSP00000504795   ⟸   ENST00000676713
RefSeq Acc Id: ENSP00000504235   ⟸   ENST00000677021
RefSeq Acc Id: ENSP00000504071   ⟸   ENST00000677950
RefSeq Acc Id: ENSP00000504813   ⟸   ENST00000677822

Promoters
RGD ID:7214153
Promoter ID:EPDNEW_H12822
Type:initiation region
Name:NDUFB9_1
Description:NADH:ubiquinone oxidoreductase subunit B9
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
GRCh388124,539,123 - 124,539,183EPDNEW
RGD ID:6806893
Promoter ID:HG_KWN:62055
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_001146160,   NM_005005,   NM_032026,   NR_027427,   UC003YRF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368125,619,846 - 125,620,642 (+)MPROMDB
RGD ID:6851506
Promoter ID:EP73554
Type:initiation region
Name:HS_NDUFB9
Description:NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa.
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 368125,620,531 - 125,620,591EPD

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005005.3(NDUFB9):c.109T>C (p.Tyr37His) single nucleotide variant not provided [RCV000522472] Chr8:124543094 [GRCh38]
Chr8:125555335 [GRCh37]
Chr8:8q24.13
conflicting interpretations of pathogenicity|uncertain significance
NM_005005.3(NDUFB9):c.191T>C (p.Leu64Pro) single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 24 [RCV000055653] Chr8:124543176 [GRCh38]
Chr8:125555417 [GRCh37]
Chr8:8q24.13
pathogenic
GRCh38/hg38 8q24.13(chr8:124125245-125337217)x3 copy number gain See cases [RCV000050762] Chr8:124125245..125337217 [GRCh38]
Chr8:125137486..126349459 [GRCh37]
Chr8:125206667..126418641 [NCBI36]
Chr8:8q24.13
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q24.13(chr8:124377953-124575712)x1 copy number loss See cases [RCV000052791] Chr8:124377953..124575712 [GRCh38]
Chr8:125390194..125587953 [GRCh37]
Chr8:125459375..125657134 [NCBI36]
Chr8:8q24.13
uncertain significance
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q23.3-24.21(chr8:113288454-126716087)x1 copy number loss See cases [RCV000054301] Chr8:113288454..126716087 [GRCh38]
Chr8:114300683..127728332 [GRCh37]
Chr8:114369859..127797514 [NCBI36]
Chr8:8q23.3-24.21
pathogenic
NM_005005.3(NDUFB9):c.436C>T (p.Pro146Ser) single nucleotide variant not provided [RCV000677050]|not specified [RCV000127134] Chr8:124549788 [GRCh38]
Chr8:125562029 [GRCh37]
Chr8:8q24.13
benign
NM_005005.3(NDUFB9):c.-43A>G single nucleotide variant not specified [RCV000127135] Chr8:124539144 [GRCh38]
Chr8:125551385 [GRCh37]
Chr8:8q24.13
benign
NM_005005.3(NDUFB9):c.-36C>G single nucleotide variant not specified [RCV000127136] Chr8:124539151 [GRCh38]
Chr8:125551392 [GRCh37]
Chr8:8q24.13
benign
NM_005005.3(NDUFB9):c.24C>T (p.Pro8=) single nucleotide variant not provided [RCV000883081]|not specified [RCV000127137] Chr8:124539210 [GRCh38]
Chr8:125551451 [GRCh37]
Chr8:8q24.13
benign
GRCh38/hg38 8q24.13-24.21(chr8:122454392-128513076)x3 copy number gain See cases [RCV000133620] Chr8:122454392..128513076 [GRCh38]
Chr8:123466631..129525322 [GRCh37]
Chr8:123535812..129594504 [NCBI36]
Chr8:8q24.13-24.21
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
NM_005005.3(NDUFB9):c.201C>T (p.Ala67=) single nucleotide variant not provided [RCV000677049]|not specified [RCV000197811] Chr8:124543186 [GRCh38]
Chr8:125555427 [GRCh37]
Chr8:8q24.13
benign|likely benign
NM_005005.2(NDUFB9):c.182C>T (p.Thr61Ile) single nucleotide variant not provided [RCV000198785] Chr8:124543167 [GRCh38]
Chr8:125555408 [GRCh37]
Chr8:8q24.13
likely pathogenic
NM_005005.3(NDUFB9):c.23C>T (p.Pro8Leu) single nucleotide variant not specified [RCV000199816] Chr8:124539209 [GRCh38]
Chr8:125551450 [GRCh37]
Chr8:8q24.13
likely benign
NM_005005.3(NDUFB9):c.472C>G (p.Arg158Gly) single nucleotide variant not provided [RCV000677051] Chr8:124549824 [GRCh38]
Chr8:125562065 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_005005.3(NDUFB9):c.530G>A (p.Arg177Gln) single nucleotide variant not provided [RCV000726624]|not specified [RCV000344205] Chr8:124549882 [GRCh38]
Chr8:125562123 [GRCh37]
Chr8:8q24.13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005005.3(NDUFB9):c.294+5G>T single nucleotide variant not provided [RCV000489390] Chr8:124543284 [GRCh38]
Chr8:125555525 [GRCh37]
Chr8:8q24.13
likely pathogenic
NM_005005.3(NDUFB9):c.347C>T (p.Pro116Leu) single nucleotide variant not provided [RCV000488057] Chr8:124547052 [GRCh38]
Chr8:125559293 [GRCh37]
Chr8:8q24.13
likely pathogenic|uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_005005.3(NDUFB9):c.-18G>T single nucleotide variant not specified [RCV000417676] Chr8:124539169 [GRCh38]
Chr8:125551410 [GRCh37]
Chr8:8q24.13
likely benign
NM_005005.3(NDUFB9):c.294+13T>C single nucleotide variant not specified [RCV000419004] Chr8:124543292 [GRCh38]
Chr8:125555533 [GRCh37]
Chr8:8q24.13
likely benign
NM_005005.3(NDUFB9):c.-47G>T single nucleotide variant not specified [RCV000419111] Chr8:124539140 [GRCh38]
Chr8:125551381 [GRCh37]
Chr8:8q24.13
likely benign
NM_005005.3(NDUFB9):c.477G>C (p.Lys159Asn) single nucleotide variant not provided [RCV000430968] Chr8:124549829 [GRCh38]
Chr8:125562070 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_005005.3(NDUFB9):c.1A>G (p.Met1Val) single nucleotide variant not provided [RCV000438795] Chr8:124539187 [GRCh38]
Chr8:125551428 [GRCh37]
Chr8:8q24.13
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8q24.13-24.21(chr8:125539280-128129372)x1 copy number loss See cases [RCV000510509] Chr8:125539280..128129372 [GRCh37]
Chr8:8q24.13-24.21
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
NM_005005.3(NDUFB9):c.364A>C (p.Arg122=) single nucleotide variant not provided [RCV000930205]|not specified [RCV000612220] Chr8:124547069 [GRCh38]
Chr8:125559310 [GRCh37]
Chr8:8q24.13
likely benign
NM_005005.3(NDUFB9):c.-26C>T single nucleotide variant not specified [RCV000616660] Chr8:124539161 [GRCh38]
Chr8:125551402 [GRCh37]
Chr8:8q24.13
likely benign
NM_005005.3(NDUFB9):c.477G>A (p.Lys159=) single nucleotide variant not specified [RCV000614491] Chr8:124549829 [GRCh38]
Chr8:125562070 [GRCh37]
Chr8:8q24.13
likely benign
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
NM_005005.3(NDUFB9):c.-31C>T single nucleotide variant not specified [RCV000605873] Chr8:124539156 [GRCh38]
Chr8:125551397 [GRCh37]
Chr8:8q24.13
likely benign
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
Single allele deletion Trichorhinophalangeal dysplasia type I [RCV000735900] Chr8:114508086..129040004 [GRCh37]
Chr8:8q23.3-24.21
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_005005.3(NDUFB9):c.9C>T (p.Phe3=) single nucleotide variant not provided [RCV000904935] Chr8:124539195 [GRCh38]
Chr8:125551436 [GRCh37]
Chr8:8q24.13
likely benign
NM_005005.3(NDUFB9):c.140G>T (p.Arg47Leu) single nucleotide variant not provided [RCV000971286] Chr8:124543125 [GRCh38]
Chr8:125555366 [GRCh37]
Chr8:8q24.13
likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_005005.3(NDUFB9):c.101+7G>A single nucleotide variant not provided [RCV000932834] Chr8:124539294 [GRCh38]
Chr8:125551535 [GRCh37]
Chr8:8q24.13
likely benign
NM_005005.3(NDUFB9):c.408+61C>T single nucleotide variant not provided [RCV000835709] Chr8:124547174 [GRCh38]
Chr8:125559415 [GRCh37]
Chr8:8q24.13
benign
NM_005005.3(NDUFB9):c.409-247G>A single nucleotide variant not provided [RCV000828587] Chr8:124549514 [GRCh38]
Chr8:125561755 [GRCh37]
Chr8:8q24.13
benign
NM_032026.4(TATDN1):c.-8G>A single nucleotide variant not provided [RCV000835442] Chr8:124539054 [GRCh38]
Chr8:125551295 [GRCh37]
Chr8:8q24.13
likely benign
GRCh37/hg19 8q24.13(chr8:125310755-125983817)x3 copy number gain not provided [RCV000848433] Chr8:125310755..125983817 [GRCh37]
Chr8:8q24.13
uncertain significance
GRCh37/hg19 8q24.13-24.22(chr8:124120772-135265846)x1 copy number loss not provided [RCV000848438] Chr8:124120772..135265846 [GRCh37]
Chr8:8q24.13-24.22
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
NM_005005.3(NDUFB9):c.294+265C>T single nucleotide variant not provided [RCV000842891] Chr8:124543544 [GRCh38]
Chr8:125555785 [GRCh37]
Chr8:8q24.13
benign
NM_005005.3(NDUFB9):c.-64A>G single nucleotide variant not provided [RCV000830945] Chr8:124539123 [GRCh38]
Chr8:125551364 [GRCh37]
Chr8:8q24.13
benign
NM_005005.3(NDUFB9):c.409-304T>G single nucleotide variant not provided [RCV000828586] Chr8:124549457 [GRCh38]
Chr8:125561698 [GRCh37]
Chr8:8q24.13
benign
NM_005005.3(NDUFB9):c.102-46C>T single nucleotide variant not provided [RCV000830753] Chr8:124543041 [GRCh38]
Chr8:125555282 [GRCh37]
Chr8:8q24.13
benign
GRCh37/hg19 8q24.13-24.21(chr8:123074293-131113892)x1 copy number loss not provided [RCV000848164] Chr8:123074293..131113892 [GRCh37]
Chr8:8q24.13-24.21
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8q24.13(chr8:124878368-126737708)x3 copy number gain not provided [RCV001006141] Chr8:124878368..126737708 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014751.5(MTSS1):c.1036-28C>T single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 24 [RCV000988114] Chr8:124557903 [GRCh38]
Chr8:125570144 [GRCh37]
Chr8:8q24.13
benign
NM_014751.5(MTSS1):c.619-571G>A single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 24 [RCV000988115] Chr8:124567749 [GRCh38]
Chr8:125579990 [GRCh37]
Chr8:8q24.13
benign
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
NM_005005.3(NDUFB9):c.81C>G (p.Leu27=) single nucleotide variant not provided [RCV000975475] Chr8:124539267 [GRCh38]
Chr8:125551508 [GRCh37]
Chr8:8q24.13
likely benign
NM_005005.3(NDUFB9):c.84G>A (p.Glu28=) single nucleotide variant not provided [RCV000885562] Chr8:124539270 [GRCh38]
Chr8:125551511 [GRCh37]
Chr8:8q24.13
likely benign
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
NM_005005.3(NDUFB9):c.148G>T (p.Glu50Ter) single nucleotide variant Mitochondrial complex I deficiency, nuclear type 1 [RCV001335221] Chr8:124543133 [GRCh38]
Chr8:125555374 [GRCh37]
Chr8:8q24.13
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7704 AgrOrtholog
COSMIC NDUFB9 COSMIC
Ensembl Genes ENSG00000147684 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000276689 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000428282 UniProtKB/TrEMBL
  ENSP00000430322 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000431115 UniProtKB/TrEMBL
  ENSP00000497750 UniProtKB/TrEMBL
  ENSP00000504071 UniProtKB/TrEMBL
  ENSP00000504235 UniProtKB/Swiss-Prot
  ENSP00000504795 UniProtKB/TrEMBL
  ENSP00000504813 UniProtKB/TrEMBL
Ensembl Transcript ENST00000276689 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000517367 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000518008 UniProtKB/TrEMBL
  ENST00000522532 UniProtKB/TrEMBL
  ENST00000606244 UniProtKB/TrEMBL
  ENST00000676713 UniProtKB/TrEMBL
  ENST00000677021 UniProtKB/Swiss-Prot
  ENST00000677822 UniProtKB/TrEMBL
  ENST00000677950 UniProtKB/TrEMBL
GTEx ENSG00000147684 GTEx
HGNC ID HGNC:7704 ENTREZGENE
Human Proteome Map NDUFB9 Human Proteome Map
InterPro Complex1_LYR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NDUFB9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4715 UniProtKB/Swiss-Prot
NCBI Gene 4715 ENTREZGENE
OMIM 601445 OMIM
  618245 OMIM
PANTHER PTHR12868 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Complex1_LYR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31515 PharmGKB
UniProt A0A3B3IT57_HUMAN UniProtKB/TrEMBL
  A0A7I2V620_HUMAN UniProtKB/TrEMBL
  A0A7I2YQN0_HUMAN UniProtKB/TrEMBL
  E7EWZ0_HUMAN UniProtKB/TrEMBL
  E9PF49_HUMAN UniProtKB/TrEMBL
  E9PH64 ENTREZGENE, UniProtKB/TrEMBL
  NDUB9_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B2R8M6 UniProtKB/Swiss-Prot
  Q9UQE8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 NDUFB9  NADH:ubiquinone oxidoreductase subunit B9    NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa  Symbol and/or name change 5135510 APPROVED