MSeqDR Central Portal

MSeqDR Data Summary for the Term NDUFA9:
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsEnsembl Gene IDEnsembl Transcript IDEnsembl Protein IDDescriptionChrGene StartGene EndStrandBandTranscript Start bpTranscript End bpAssociated Gene NameAssociated Transcript NameAssociated Gene DBAssociated Transcript DBTranscript countpct GC contentGene BiotypeTranscript BiotypeSource GeneSource TranscriptStatus geneStatus transcript EntrezGene IDHGNC IDHGNC SymbolRefSeq mRNASeq region id
ENSG00000139180 MSeqDR Search EnsemblNDUFA91419ENSG00000139180ENST00000539573NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa [Source:HGNC Symbol;Acc:7693]12475826147984541p13.3247582614777704NDUFA9NDUFA9-009HGNC SymbolHGNC transcript name939protein_codingretained_intronensembl_havahavanaKNOWNKNOWN47047693NDUFA927519


MSeqDR Master Exome Data Set M1: 145 entries from same gene

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
1124714210CAENST00000536588ENSG0000013918047582614798454ENSP00000445121NDUFA91-c.101C>Ap.S34Ynon-synNA--lod=41:366TOLERATEDD-het1
2124740515ATENST00000536588ENSG0000013918047582614798454ENSP00000445121NDUFA91---3'_UTRrs110632700.344-----het68
3124740515ATENST00000536588ENSG0000013918047582614798454ENSP00000445121NDUFA91---3'_UTRrs110632700.344-----hom6
4124758276GAENST00000266544ENSG0000013918047582614798454ENSP00000266544NDUFA91NDUA9_HUMAN--5'_UTRNA------het1
5124758276GAENST00000539573ENSG0000013918047582614798454-NDUFA91-c.16G>Ap.G6Rnon-synNA------het1
6124758305GCENST00000266544ENSG0000013918047582614798454ENSP00000266544NDUFA91NDUA9_HUMANc.13G>Cp.A5Pnon-synrs351557420.0212C=0/G=8600;C=168/G=4238;C=168/G=12838-TOLERATEDB-het1
7124758305GCENST00000396655ENSG0000013918047582614798454-NDUFA91-c.23G>Cp.R8Pnon-synrs351557420.0212C=0/G=8600;C=168/G=4238;C=168/G=12838-TOLERATEDB-het1
8124758305GCENST00000539573ENSG0000013918047582614798454-NDUFA91-c.45G>Cp.P15Psynrs351557420.0212C=0/G=8600;C=168/G=4238;C=168/G=12838-TOLERATEDB-het1
9124758305GCENST00000542369ENSG0000013918047582614798454-NDUFA91-c.25G>Cp.A9Pnon-synrs351557420.0212C=0/G=8600;C=168/G=4238;C=168/G=12838-TOLERATEDB-het1
10124758305GCENST00000544679ENSG0000013918047582614798454-NDUFA91-c.21G>Cp.P7Psynrs351557420.0212C=0/G=8600;C=168/G=4238;C=168/G=12838-TOLERATEDB-het1
11124763536AGENST00000266544ENSG0000013918047582614798454ENSP00000266544NDUFA91NDUA9_HUMANc.128A>Gp.H43Rnon-synNA--lod=175:521TOLERATEDP-het1
12124763536AGENST00000396655ENSG0000013918047582614798454-NDUFA91-c.138A>Gp.S46SsynNA--lod=175:521TOLERATEDP-het1
13124763536AGENST00000535050ENSG0000013918047582614798454ENSP00000440305NDUFA91-c.194A>Gp.H65Rnon-synNA--lod=175:521TOLERATEDP-het1
14124763536AGENST00000536588ENSG0000013918047582614798454ENSP00000445121NDUFA91---3'_UTRNA--lod=175:521TOLERATEDP-het1
15124763536AGENST00000542369ENSG0000013918047582614798454-NDUFA91-c.140A>Gp.H47Rnon-synNA--lod=175:521TOLERATEDP-het1
16124763536AGENST00000544679ENSG0000013918047582614798454-NDUFA91-c.136A>Gp.M46Vnon-synNA--lod=175:521TOLERATEDP-het1
17124763575CTENST00000266544ENSG0000013918047582614798454ENSP00000266544NDUFA91NDUA9_HUMANc.167C>Tp.A56Vnon-synrs200951099--lod=131:490DAMAGINGP-het1
18124763575CTENST00000396655ENSG0000013918047582614798454-NDUFA91-c.177C>Tp.G59Gsynrs200951099--lod=131:490DAMAGINGP-het1
19124763575CTENST00000535050ENSG0000013918047582614798454ENSP00000440305NDUFA91-c.233C>Tp.A78Vnon-synrs200951099--lod=131:490DAMAGINGP-het1
20124763575CTENST00000536588ENSG0000013918047582614798454ENSP00000445121NDUFA91---3'_UTRrs200951099--lod=131:490DAMAGINGP-het1
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       Transcripts and variants in the surrounding NDUFA9 12:4758261..4798454 region Gbrowse