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MSeqDR Data Summary for the Term FOXC1:
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
ENSG00000054598 MSeqDR Search EnsemblFOXC10028ENSG00000054598ENST00000380874ENSP00000370256forkhead box C1 [Source:HGNC Symbol;Acc:3800]6161068116141271p25.316106811614127FOXC1FOXC1-001HGNC SymbolHGNC transcript name153.35protein_codingprotein_codingensembl_havaensembl_havaKNOWNKNOWN22963800FOXC1NM_00145327515


MSeqDR Master Exome Data Set M1: 56 entries from same gene

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
161610932CTENST00000380874ENSG0000005459816106811614127ENSP00000370256FOXC11FOXC1_HUMANc.252C>Tp.I84IsynNA--lod=3450:840---het2
261610985AGENST00000380874ENSG0000005459816106811614127ENSP00000370256FOXC11FOXC1_HUMANc.305A>Gp.N102Snon-synNA--lod=3450:840DAMAGINGD-het1
361611085CTENST00000380874ENSG0000005459816106811614127ENSP00000370256FOXC11FOXC1_HUMANc.405C>Tp.C135Csynrs22300960.0751T=4/C=8596;T=454/C=3952;T=458/C=12548lod=3450:840---het7
461611239GAENST00000380874ENSG0000005459816106811614127ENSP00000370256FOXC11FOXC1_HUMANc.559G>Ap.D187Nnon-synNA--lod=3450:840TOLERATEDB-het1
561611253CTENST00000380874ENSG0000005459816106811614127ENSP00000370256FOXC11FOXC1_HUMANc.573C>Tp.L191LsynNA--lod=3450:840---het1
661611371GAENST00000380874ENSG0000005459816106811614127ENSP00000370256FOXC11FOXC1_HUMANc.691G>Ap.G231Snon-synNA--lod=500:633TOLERATEDD-het1
761611407GTENST00000380874ENSG0000005459816106811614127ENSP00000370256FOXC11FOXC1_HUMANc.727G>Tp.A243Snon-synNA--lod=500:633TOLERATEDB-het2
861611569CTENST00000380874ENSG0000005459816106811614127ENSP00000370256FOXC11FOXC1_HUMANc.889C>Tp.P297Snon-synrs796919460.0045--TOLERATEDBHGMDhet4
961611601CTENST00000380874ENSG0000005459816106811614127ENSP00000370256FOXC11FOXC1_HUMANc.921C>Tp.G307GsynNA-T=9/C=4661;T=0/C=2032;T=9/C=6693lod=260:563---het1
1061611802G+GGCENST00000380874ENSG0000005459816106811614127ENSP00000370256FOXC11FOXC1_HUMANc.1122_1123insGGCp.G375NAnon-synNA------het75
1161611802G+GGCENST00000380874ENSG0000005459816106811614127ENSP00000370256FOXC11FOXC1_HUMANc.1122_1123insGGCp.G375NAnon-synNA------hom1
1261611802G-GGCENST00000380874ENSG0000005459816106811614127ENSP00000370256FOXC11FOXC1_HUMANc.1123_1125delp.G375NAnon-synNA------het4
1361611802G-GGCGGCENST00000380874ENSG0000005459816106811614127ENSP00000370256FOXC11FOXC1_HUMANc.1123_1128delp.G375NAnon-synNA------het1
1461611869CTENST00000380874ENSG0000005459816106811614127ENSP00000370256FOXC11FOXC1_HUMANc.1189C>Tp.L397LsynNA--lod=235:553---het1
1561612013ACENST00000380874ENSG0000005459816106811614127ENSP00000370256FOXC11FOXC1_HUMANc.1333A>Cp.S445Rnon-synrs75089353--lod=1334:738TOLERATEDP-het1
1661612017A+CGGENST00000380874ENSG0000005459816106811614127ENSP00000370256FOXC11FOXC1_HUMANc.1337_1338insCGGp.H446NAnon-synNA--lod=1334:738---het159
1761612141C-GCGGCGENST00000380874ENSG0000005459816106811614127ENSP00000370256FOXC11FOXC1_HUMANc.1462_1467delp.A488NAnon-synNA--lod=1334:738---het3
1861612166GAENST00000380874ENSG0000005459816106811614127ENSP00000370256FOXC11FOXC1_HUMANc.1486G>Ap.G496Snon-synNA--lod=1334:738TOLERATEDB-het3
1961612234GTENST00000380874ENSG0000005459816106811614127ENSP00000370256FOXC11FOXC1_HUMANc.1554G>Tp.L518Fnon-synrs201687238--lod=1334:738DAMAGINGP-het11
2061612234GTENST00000380874ENSG0000005459816106811614127ENSP00000370256FOXC11FOXC1_HUMANc.1554G>Tp.L518Fnon-synrs201687238--lod=1334:738DAMAGINGP-hom1
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       Transcripts and variants in the surrounding FOXC1 6:1610681..1614127 region Gbrowse