MSeqDR Central Portal

MSeqDR Data Summary for the Term APOPT1:
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
ENSG00000256053 MSeqDR Search EnsemblAPOPT1154ENSG00000256053ENST00000247618ENSP00000247618apoptogenic 1, mitochondrial [Source:HGNC Symbol;Acc:20492]141040292991040738601q32.33104029331104058508APOPT1APOPT1-201HGNC SymbolHGNC transcript name1748.97protein_codingprotein_codingensembl_havaensemblKNOWNKNOWN8433420492APOPT127520


MSeqDR Master Exome Data Set M1: 197 entries from same gene

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
114104029346TCENST00000247618ENSG00000256053104029299104073860ENSP00000247618APOPT11-c.8T>Cp.V3Anon-synrs617337620.0583C=6/T=8382;C=258/T=4010;C=264/T=12392-TOLERATEDB-het8
214104029346TCENST00000409074ENSG00000256053104029299104073860ENSP00000386485APOPT11APOP1_HUMANc.47T>Cp.V16Anon-synrs617337620.0583C=6/T=8382;C=258/T=4010;C=264/T=12392-TOLERATEDB-het8
314104029346TCENST00000440963ENSG00000256053104029299104073860ENSP00000388067APOPT11-c.45T>Cp.G15Gsynrs617337620.0583C=6/T=8382;C=258/T=4010;C=264/T=12392-TOLERATEDB-het8
414104029346TCENST00000458117ENSG00000256053104029299104073860ENSP00000408525APOPT11-c.31T>Cp.S11Pnon-synrs617337620.0583C=6/T=8382;C=258/T=4010;C=264/T=12392-TOLERATEDB-het8
514104029346TCENST00000554625ENSG00000256053104029299104073860-APOPT11-c.28T>Cp.S10Pnon-synrs617337620.0583C=6/T=8382;C=258/T=4010;C=264/T=12392-TOLERATEDB-het8
614104029346TCENST00000556253ENSG00000256053104029299104073860ENSP00000451874APOPT11-c.8T>Cp.V3Anon-synrs617337620.0583C=6/T=8382;C=258/T=4010;C=264/T=12392-TOLERATEDB-het8
714104029378CAENST00000247618ENSG00000256053104029299104073860ENSP00000247618APOPT11-c.40C>Ap.P14Tnon-synNA-G=2427/C=5815;G=924/C=3274;G=3351/C=9089-TOLERATEDP-het3
814104029378CAENST00000409074ENSG00000256053104029299104073860ENSP00000386485APOPT11APOP1_HUMANc.79C>Ap.P27Tnon-synNA-G=2427/C=5815;G=924/C=3274;G=3351/C=9089-TOLERATEDP-het3
914104029378CAENST00000440963ENSG00000256053104029299104073860ENSP00000388067APOPT11-c.77C>Ap.P26Hnon-synNA-G=2427/C=5815;G=924/C=3274;G=3351/C=9089-TOLERATEDP-het3
1014104029378CAENST00000458117ENSG00000256053104029299104073860ENSP00000408525APOPT11-c.63C>Ap.P21PsynNA-G=2427/C=5815;G=924/C=3274;G=3351/C=9089-TOLERATEDP-het3
1114104029378CAENST00000554625ENSG00000256053104029299104073860-APOPT11-c.60C>Ap.P20PsynNA-G=2427/C=5815;G=924/C=3274;G=3351/C=9089-TOLERATEDP-het3
1214104029378CAENST00000556253ENSG00000256053104029299104073860ENSP00000451874APOPT11-c.40C>Ap.P14Tnon-synNA-G=2427/C=5815;G=924/C=3274;G=3351/C=9089-TOLERATEDP-het3
1314104029378CGENST00000247618ENSG00000256053104029299104073860ENSP00000247618APOPT11-c.40C>Gp.P14Anon-synrs22742680.3107G=2427/C=5815;G=924/C=3274;G=3351/C=9089-TOLERATEDB-het297
1414104029378CGENST00000247618ENSG00000256053104029299104073860ENSP00000247618APOPT11-c.40C>Gp.P14Anon-synrs22742680.3107G=2427/C=5815;G=924/C=3274;G=3351/C=9089-TOLERATEDB-hom102
1514104029378CGENST00000409074ENSG00000256053104029299104073860ENSP00000386485APOPT11APOP1_HUMANc.79C>Gp.P27Anon-synrs22742680.3107G=2427/C=5815;G=924/C=3274;G=3351/C=9089-TOLERATEDB-het297
1614104029378CGENST00000409074ENSG00000256053104029299104073860ENSP00000386485APOPT11APOP1_HUMANc.79C>Gp.P27Anon-synrs22742680.3107G=2427/C=5815;G=924/C=3274;G=3351/C=9089-TOLERATEDB-hom102
1714104029378CGENST00000440963ENSG00000256053104029299104073860ENSP00000388067APOPT11-c.77C>Gp.P26Rnon-synrs22742680.3107G=2427/C=5815;G=924/C=3274;G=3351/C=9089-TOLERATEDB-het297
1814104029378CGENST00000440963ENSG00000256053104029299104073860ENSP00000388067APOPT11-c.77C>Gp.P26Rnon-synrs22742680.3107G=2427/C=5815;G=924/C=3274;G=3351/C=9089-TOLERATEDB-hom102
1914104029378CGENST00000458117ENSG00000256053104029299104073860ENSP00000408525APOPT11-c.63C>Gp.P21Psynrs22742680.3107G=2427/C=5815;G=924/C=3274;G=3351/C=9089-TOLERATEDB-het297
2014104029378CGENST00000458117ENSG00000256053104029299104073860ENSP00000408525APOPT11-c.63C>Gp.P21Psynrs22742680.3107G=2427/C=5815;G=924/C=3274;G=3351/C=9089-TOLERATEDB-hom102
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       Transcripts and variants in the surrounding APOPT1 14:104029299..104073860 region Gbrowse