MSeqDR Central Portal

MSeqDR Data Summary for the Term LIPC:
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
ENSG00000166035 MSeqDR Search EnsemblLIPC132ENSG00000166035ENST00000356113ENSP00000348425lipase, hepatic [Source:HGNC Symbol;Acc:6619]1558702768588611511q21.35870276858861072LIPCLIPC-002HGNC SymbolHGNC transcript name745.45protein_codingprotein_codingensembl_havaensembl_havaKNOWNKNOWN39906619LIPC27521


MSeqDR Master Exome Data Set M1: 240 entries from same gene

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
11558724331ACENST00000299022ENSG000001660355870276858861151ENSP00000299022LIPC1LIPC_HUMAN--+12bp 5'_splice_siteNA------het3
21558724331ACENST00000356113ENSG000001660355870276858861151ENSP00000348425LIPC1LIPC_HUMAN--+12bp 5'_splice_siteNA------het3
31558724331ACENST00000414170ENSG000001660355870276858861151ENSP00000395569LIPC1---+12bp 5'_splice_siteNA------het3
41558724331ACENST00000433326ENSG000001660355870276858861151ENSP00000395002LIPC1---+12bp 5'_splice_siteNA------het3
51558724331ACENST00000559845ENSG000001660355870276858861151-LIPC1---+12bp 5'_splice_siteNA------het3
61558724331ACENST00000560257ENSG000001660355870276858861151-LIPC1-c.703A>Cp.T235Pnon-synNA------het3
71558724371CTENST00000560257ENSG000001660355870276858861151-LIPC1-c.743C>Tp.T248Mnon-synrs81927010.1393T=693/C=3909;T=75/C=2557;T=768/C=6466---HGMDhet186
81558724371CTENST00000560257ENSG000001660355870276858861151-LIPC1-c.743C>Tp.T248Mnon-synrs81927010.1393T=693/C=3909;T=75/C=2557;T=768/C=6466---HGMDhom14
91558724383AGENST00000560257ENSG000001660355870276858861151-LIPC1-c.755A>Gp.K252Rnon-synrs116313420.107-----het34
101558724383AGENST00000560257ENSG000001660355870276858861151-LIPC1-c.755A>Gp.K252Rnon-synrs116313420.107-----hom1
111558724451GAENST00000560257ENSG000001660355870276858861151-LIPC1-c.823G>Ap.D275Nnon-synNA------het2
121558724524AGENST00000560257ENSG000001660355870276858861151-LIPC1-c.896A>Gp.*299*synrs64940050.45803-----het49
131558724524AGENST00000560257ENSG000001660355870276858861151-LIPC1-c.896A>Gp.*299*synrs64940050.45803-----hom56
141558724555GAENST00000560257ENSG000001660355870276858861151-LIPC1-c.927G>Ap.Q309QsynNA------het2
151558830550CAENST00000299022ENSG000001660355870276858861151ENSP00000299022LIPC1LIPC_HUMANc.107C>Ap.A36Dnon-synNA---DAMAGINGB-het2
161558830550CAENST00000356113ENSG000001660355870276858861151ENSP00000348425LIPC1LIPC_HUMANc.107C>Ap.A36Dnon-synNA---DAMAGINGB-het2
171558830550CAENST00000414170ENSG000001660355870276858861151ENSP00000395569LIPC1-c.107C>Ap.A36Dnon-synNA---DAMAGINGB-het2
181558830550CAENST00000433326ENSG000001660355870276858861151ENSP00000395002LIPC1-c.107C>Ap.A36Dnon-synNA---DAMAGINGB-het2
191558830707CTENST00000299022ENSG000001660355870276858861151ENSP00000299022LIPC1LIPC_HUMANc.264C>Tp.H88Hsynrs71754120.0482T=2/C=8582;T=155/C=4229;T=157/C=12811lod=121:482---het2
201558830707CTENST00000356113ENSG000001660355870276858861151ENSP00000348425LIPC1LIPC_HUMANc.264C>Tp.H88Hsynrs71754120.0482T=2/C=8582;T=155/C=4229;T=157/C=12811lod=121:482---het2
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       Transcripts and variants in the surrounding LIPC 15:58702768..58861151 region Gbrowse