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MSeqDR Data Summary for the Term COX20:
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
ENSG00000203667 MSeqDR Search EnsemblCOX20132ENSG00000203667ENST00000411948ENSP00000406327COX20 cytochrome C oxidase assembly factor [Source:HGNC Symbol;Acc:26970]12449986242450083591q44244998624245008359COX20COX20-001HGNC SymbolHGNC transcript name539.53protein_codingprotein_codingensembl_havaensembl_havaKNOWNKNOWN11622826970COX20NM_19807627511


MSeqDR Master Exome Data Set M1: 153 entries from same gene

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
11244998752CTENST00000411948ENSG00000203667244998624245008359ENSP00000406327COX201COX20_HUMAN--5'_UTRrs744410010.0424-----het2
21244998752CTENST00000411948ENSG00000203667244998624245008359ENSP00000406327COX201COX20_HUMAN--5'_UTRrs744410010.0424-----hom1
31244998862GAENST00000411948ENSG00000203667244998624245008359ENSP00000406327COX201COX20_HUMAN--5'_UTRNA------het6
41244998884T-GGCENST00000411948ENSG00000203667244998624245008359ENSP00000406327COX201COX20_HUMAN--5'_UTRNA--lod=35:349---hom1
51244998884T-GGCENST00000411948ENSG00000203667244998624245008359ENSP00000406327COX201COX20_HUMAN--5'_UTRNA--lod=35:349---het67
61244998884T-GGENST00000411948ENSG00000203667244998624245008359ENSP00000406327COX201COX20_HUMAN--5'_UTRNA--lod=35:349---het1
71244998942A-GGENST00000366528ENSG00000203667244998624245008359ENSP00000355486COX201COX20_HUMAN--5'_UTRNA------het1
81244998942A-GGENST00000411948ENSG00000203667244998624245008359ENSP00000406327COX201COX20_HUMAN--5'_UTRNA------het1
91244998961CAENST00000366528ENSG00000203667244998624245008359ENSP00000355486COX201COX20_HUMAN--5'_UTRNA------het4
101244998961CAENST00000366528ENSG00000203667244998624245008359ENSP00000355486COX201COX20_HUMAN--5'_UTRNA------hom1
111244998961CAENST00000391839ENSG00000203667244998624245008359-COX201-c.4C>Ap.L2Inon-synNA------het4
121244998961CAENST00000391839ENSG00000203667244998624245008359-COX201-c.4C>Ap.L2Inon-synNA------hom1
131244998961CAENST00000411948ENSG00000203667244998624245008359ENSP00000406327COX201COX20_HUMAN--5'_UTRNA------het4
141244998961CAENST00000411948ENSG00000203667244998624245008359ENSP00000406327COX201COX20_HUMAN--5'_UTRNA------hom1
151244998961CAENST00000498262ENSG00000203667244998624245008359-COX201-c.1C>Ap.L1Inon-synNA------het4
161244998961CAENST00000498262ENSG00000203667244998624245008359-COX201-c.1C>Ap.L1Inon-synNA------hom1
171244999067GAENST00000366528ENSG00000203667244998624245008359ENSP00000355486COX201COX20_HUMAN--+9bp 5'_splice_siters1921009280.0132A=105/G=5443;A=33/G=2677;A=138/G=8120----het4
181244999067GAENST00000391839ENSG00000203667244998624245008359-COX201---+9bp 5'_splice_siters1921009280.0132A=105/G=5443;A=33/G=2677;A=138/G=8120----het4
191244999067GAENST00000411948ENSG00000203667244998624245008359ENSP00000406327COX201COX20_HUMAN--+9bp 5'_splice_siters1921009280.0132A=105/G=5443;A=33/G=2677;A=138/G=8120----het4
201244999067GAENST00000498262ENSG00000203667244998624245008359-COX201---+9bp 5'_splice_siters1921009280.0132A=105/G=5443;A=33/G=2677;A=138/G=8120----het4
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       Transcripts and variants in the surrounding COX20 1:244998624..245008359 region Gbrowse