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MSeqDR Data Summary for the Term SURF1:
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
ENSG00000148290 MSeqDR Search EnsemblSURF1139733ENSG00000148290ENST00000371974ENSP00000361042surfeit 1 [Source:HGNC Symbol;Acc:11474]9136218610136223552-1q34.2136218610136223361SURF1SURF1-001HGNC SymbolHGNC transcript name454.12protein_codingprotein_codingensembl_havaensembl_havaKNOWNKNOWN683411474SURF1NM_00128078727518
ENSG00000260692 MSeqDR Search EnsemblSURF11033ENSG00000260692ENST00000564539ENSP00000456408surfeit 1 [Source:HGNC Symbol;Acc:11474]HG79_PATCH136227290136232211-1q34.2136227290136232020SURF1SURF1-001HGNC SymbolHGNC transcript name453.96protein_codingprotein_codinghavanahavanaKNOWNKNOWN683411474SURF1100965615

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MSeqDR Master Exome Data Set M1: 69 entries from same gene

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
19136218620TCENST00000371974ENSG00000148290136218610136223552ENSP00000361042SURF1-1SURF1_HUMAN--3'_UTRNA------het9
29136218650AGENST00000371974ENSG00000148290136218610136223552ENSP00000361042SURF1-1SURF1_HUMAN--3'_UTRrs49621330.06934-----het101
39136218650AGENST00000371974ENSG00000148290136218610136223552ENSP00000361042SURF1-1SURF1_HUMAN--3'_UTRrs49621330.06934-----hom5
49136218721CTENST00000371974ENSG00000148290136218610136223552ENSP00000361042SURF1-1SURF1_HUMAN--3'_UTRrs1380507670.0042T=0/C=8596;T=32/C=4372;T=32/C=12968----het1
59136218792GAENST00000371974ENSG00000148290136218610136223552ENSP00000361042SURF1-1SURF1_HUMANc.879C>Tp.F293Fsynrs145088629-A=2/G=8598;A=0/G=4406;A=2/G=13004lod=18:278---het2
69136218792GAENST00000437995ENSG00000148290136218610136223552-SURF1-1-c.789C>Tp.F263Fsynrs145088629-A=2/G=8598;A=0/G=4406;A=2/G=13004lod=18:278---het2
79136218792GAENST00000495952ENSG00000148290136218610136223552-SURF1-1-c.869C>Tp.S290Fnon-synrs145088629-A=2/G=8598;A=0/G=4406;A=2/G=13004lod=18:278---het2
89136218913CTENST00000371974ENSG00000148290136218610136223552ENSP00000361042SURF1-1SURF1_HUMAN--+3bp 5'_splice_siteNA--lod=51:389---het2
99136218913CTENST00000437995ENSG00000148290136218610136223552-SURF1-1---+3bp 5'_splice_siteNA--lod=51:389---het2
109136218913CTENST00000495952ENSG00000148290136218610136223552-SURF1-1---+3bp 5'_splice_siteNA--lod=51:389---het2
119136219295AGENST00000371974ENSG00000148290136218610136223552ENSP00000361042SURF1-1SURF1_HUMAN--+6bp 5'_splice_siters412960990.0271G=24/A=8576;G=154/A=4252;G=178/A=12828lod=24:309--HGMDhet5
129136219295AGENST00000437995ENSG00000148290136218610136223552-SURF1-1---+6bp 5'_splice_siters412960990.0271G=24/A=8576;G=154/A=4252;G=178/A=12828lod=24:309--HGMDhet5
139136219295AGENST00000495952ENSG00000148290136218610136223552-SURF1-1---+6bp 5'_splice_siters412960990.0271G=24/A=8576;G=154/A=4252;G=178/A=12828lod=24:309--HGMDhet5
149136219307TCENST00000371974ENSG00000148290136218610136223552ENSP00000361042SURF1-1SURF1_HUMANc.745A>Gp.N249Dnon-synNA---TOLERATEDB-het2
159136219307TCENST00000437995ENSG00000148290136218610136223552-SURF1-1-c.655A>Gp.N219Dnon-synNA---TOLERATEDB-het2
169136219307TCENST00000495952ENSG00000148290136218610136223552-SURF1-1-c.735A>Gp.P245PsynNA---TOLERATEDB-het2
179136219316TCENST00000371974ENSG00000148290136218610136223552ENSP00000361042SURF1-1SURF1_HUMANc.736A>Gp.I246Vnon-synNA--lod=59:405TOLERATEDP-het1
189136219316TCENST00000437995ENSG00000148290136218610136223552-SURF1-1-c.646A>Gp.I216Vnon-synNA--lod=59:405TOLERATEDP-het1
199136219316TCENST00000495952ENSG00000148290136218610136223552-SURF1-1-c.726A>Gp.S242SsynNA--lod=59:405TOLERATEDP-het1
209136219448CGENST00000371974ENSG00000148290136218610136223552ENSP00000361042SURF1-1SURF1_HUMANc.604G>Cp.D202Hnon-synrs726193270.1049G=2/C=8598;G=9/C=4397;G=11/C=12995lod=71:425DAMAGINGD Cytochromehet9
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       Transcripts and variants in the surrounding SURF1 9:136218610..136223552 region Gbrowse