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MSeqDR Data Summary for the Term ENSG00000130489:
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
ENSG00000130489 MSeqDR Search EnsemblSCO211181ENSG00000130489ENST00000395693ENSP00000379046SCO2 cytochrome c oxidase assembly protein [Source:HGNC Symbol;Acc:10604]225096199750964868-1q13.335096199750964035SCO2SCO2-001HGNC SymbolHGNC transcript name667.13protein_codingprotein_codingensembl_havaensembl_havaKNOWNKNOWN999710604SCO2NM_00513827510


MSeqDR Master Exome Data Set M1: 130 entries from same gene

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
12250962036TCENST00000252785ENSG000001304895096199750964868ENSP00000252785SCO2-1SCO2_HUMAN--3'_UTRNA-C=0/T=8600;C=3/T=4403;C=3/T=13003----het2
22250962036TCENST00000395693ENSG000001304895096199750964868ENSP00000379046SCO2-1SCO2_HUMAN--3'_UTRNA-C=0/T=8600;C=3/T=4403;C=3/T=13003----het2
32250962036TCENST00000535425ENSG000001304895096199750964868ENSP00000444242SCO2-1SCO2_HUMAN--3'_UTRNA-C=0/T=8600;C=3/T=4403;C=3/T=13003----het2
42250962036TCENST00000543927ENSG000001304895096199750964868ENSP00000444433SCO2-1SCO2_HUMAN--3'_UTRNA-C=0/T=8600;C=3/T=4403;C=3/T=13003----het2
52250962057GAENST00000252785ENSG000001304895096199750964868ENSP00000252785SCO2-1SCO2_HUMANc.784C>Tp.R262Cnon-synrs201174948--lod=18:278DAMAGINGP-het1
62250962057GAENST00000395693ENSG000001304895096199750964868ENSP00000379046SCO2-1SCO2_HUMANc.784C>Tp.R262Cnon-synrs201174948--lod=18:278DAMAGINGP-het1
72250962057GAENST00000535425ENSG000001304895096199750964868ENSP00000444242SCO2-1SCO2_HUMANc.784C>Tp.R262Cnon-synrs201174948--lod=18:278DAMAGINGP-het1
82250962057GAENST00000543927ENSG000001304895096199750964868ENSP00000444433SCO2-1SCO2_HUMANc.784C>Tp.R262Cnon-synrs201174948--lod=18:278DAMAGINGP-het1
92250962064CTENST00000252785ENSG000001304895096199750964868ENSP00000252785SCO2-1SCO2_HUMANc.777G>Ap.A259AsynNA-T=1/C=8599;T=0/C=4406;T=1/C=13005----het1
102250962064CTENST00000395693ENSG000001304895096199750964868ENSP00000379046SCO2-1SCO2_HUMANc.777G>Ap.A259AsynNA-T=1/C=8599;T=0/C=4406;T=1/C=13005----het1
112250962064CTENST00000535425ENSG000001304895096199750964868ENSP00000444242SCO2-1SCO2_HUMANc.777G>Ap.A259AsynNA-T=1/C=8599;T=0/C=4406;T=1/C=13005----het1
122250962064CTENST00000543927ENSG000001304895096199750964868ENSP00000444433SCO2-1SCO2_HUMANc.777G>Ap.A259AsynNA-T=1/C=8599;T=0/C=4406;T=1/C=13005----het1
132250962065GAENST00000252785ENSG000001304895096199750964868ENSP00000252785SCO2-1SCO2_HUMANc.776C>Tp.A259Vnon-synrs81393050.0365A=0/G=8600;A=114/G=4292;A=114/G=12892lod=34:346TOLERATEDB-het1
142250962065GAENST00000395693ENSG000001304895096199750964868ENSP00000379046SCO2-1SCO2_HUMANc.776C>Tp.A259Vnon-synrs81393050.0365A=0/G=8600;A=114/G=4292;A=114/G=12892lod=34:346TOLERATEDB-het1
152250962065GAENST00000535425ENSG000001304895096199750964868ENSP00000444242SCO2-1SCO2_HUMANc.776C>Tp.A259Vnon-synrs81393050.0365A=0/G=8600;A=114/G=4292;A=114/G=12892lod=34:346TOLERATEDB-het1
162250962065GAENST00000543927ENSG000001304895096199750964868ENSP00000444433SCO2-1SCO2_HUMANc.776C>Tp.A259Vnon-synrs81393050.0365A=0/G=8600;A=114/G=4292;A=114/G=12892lod=34:346TOLERATEDB-het1
172250962078GTENST00000252785ENSG000001304895096199750964868ENSP00000252785SCO2-1SCO2_HUMANc.763C>Ap.R255Rsynrs1127932920.0094T=107/G=8493;T=5/G=4401;T=112/G=12894lod=25:313---het28
182250962078GTENST00000395693ENSG000001304895096199750964868ENSP00000379046SCO2-1SCO2_HUMANc.763C>Ap.R255Rsynrs1127932920.0094T=107/G=8493;T=5/G=4401;T=112/G=12894lod=25:313---het28
192250962078GTENST00000535425ENSG000001304895096199750964868ENSP00000444242SCO2-1SCO2_HUMANc.763C>Ap.R255Rsynrs1127932920.0094T=107/G=8493;T=5/G=4401;T=112/G=12894lod=25:313---het28
202250962078GTENST00000543927ENSG000001304895096199750964868ENSP00000444433SCO2-1SCO2_HUMANc.763C>Ap.R255Rsynrs1127932920.0094T=107/G=8493;T=5/G=4401;T=112/G=12894lod=25:313---het28
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       Transcripts and variants in the surrounding SCO2 22:50961997..50964868 region Gbrowse