MSeqDR Central Portal

MSeqDR Data Summary for the Term LRP5:
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
ENSG00000162337 MSeqDR Search EnsemblLRP50064ENSG00000162337ENST00000294304ENSP00000294304low density lipoprotein receptor-related protein 5 [Source:HGNC Symbol;Acc:6697]1168080077682167431q13.26808007768216743LRP5LRP5-001HGNC SymbolHGNC transcript name754.62protein_codingprotein_codingensembl_havaensembl_havaKNOWNKNOWN40416697LRP5NM_00233527504


MSeqDR Master Exome Data Set M1: 248 entries from same gene

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
11168080161G-CENST00000294304ENSG000001623376808007768216743ENSP00000294304LRP51LRP5_HUMAN--5'_UTRNA--lod=125:485---het1
21168080161G-CENST00000529993ENSG000001623376808007768216743ENSP00000436652LRP51---5'_UTRNA--lod=125:485---het1
31168080214C+GCTENST00000294304ENSG000001623376808007768216743ENSP00000294304LRP51LRP5_HUMANc.32_33insGCTp.P11NAnon-synNA--lod=125:485---het29
41168080214C+GCTENST00000294304ENSG000001623376808007768216743ENSP00000294304LRP51LRP5_HUMANc.32_33insGCTp.P11NAnon-synNA--lod=125:485---hom1
51168080214C-GCTENST00000294304ENSG000001623376808007768216743ENSP00000294304LRP51LRP5_HUMANc.33_35delp.P11NAnon-synNA--lod=125:485---het1
61168080214C+GCTENST00000529993ENSG000001623376808007768216743ENSP00000436652LRP51-c.32_33insGCTp.P11NAnon-synNA--lod=125:485---het29
71168080214C+GCTENST00000529993ENSG000001623376808007768216743ENSP00000436652LRP51-c.32_33insGCTp.P11NAnon-synNA--lod=125:485---hom1
81168080214C-GCTENST00000529993ENSG000001623376808007768216743ENSP00000436652LRP51-c.33_35delp.P11NAnon-synNA--lod=125:485---het1
91168115360TGENST00000294304ENSG000001623376808007768216743ENSP00000294304LRP51LRP5_HUMANc.137T>Gp.V46Gnon-synNA--lod=203:537DAMAGINGD-hom1
101168115360TGENST00000294304ENSG000001623376808007768216743ENSP00000294304LRP51LRP5_HUMANc.137T>Gp.V46Gnon-synNA--lod=203:537DAMAGINGD-het11
111168115360TGENST00000529993ENSG000001623376808007768216743ENSP00000436652LRP51-c.137T>Gp.V46Gnon-synNA--lod=203:537DAMAGINGD-hom1
121168115360TGENST00000529993ENSG000001623376808007768216743ENSP00000436652LRP51-c.137T>Gp.V46Gnon-synNA--lod=203:537DAMAGINGD-het11
131168115489AGENST00000294304ENSG000001623376808007768216743ENSP00000294304LRP51LRP5_HUMANc.266A>Gp.Q89Rnon-synrs414943490.0453G=47/A=8541;G=13/A=4387;G=60/A=12928lod=357:597TOLERATEDB Lower femoral neck bone mineral density, association withhet11
141168115489AGENST00000529993ENSG000001623376808007768216743ENSP00000436652LRP51-c.266A>Gp.Q89Rnon-synrs414943490.0453G=47/A=8541;G=13/A=4387;G=60/A=12928lod=357:597TOLERATEDB Lower femoral neck bone mineral density, association withhet11
151168115514CTENST00000294304ENSG000001623376808007768216743ENSP00000294304LRP51LRP5_HUMANc.291C>Tp.A97Asynrs146667935-T=9/C=8579;T=1/C=4399;T=10/C=12978----het1
161168115514CTENST00000529993ENSG000001623376808007768216743ENSP00000436652LRP51-c.291C>Tp.A97Asynrs146667935-T=9/C=8579;T=1/C=4399;T=10/C=12978----het1
171168115518GAENST00000294304ENSG000001623376808007768216743ENSP00000294304LRP51LRP5_HUMANc.295G>Ap.V99Mnon-synNA--lod=32:340TOLERATEDB-het1
181168115518GAENST00000529993ENSG000001623376808007768216743ENSP00000436652LRP51-c.295G>Ap.V99Mnon-synNA--lod=32:340TOLERATEDB-het1
191168115526CTENST00000294304ENSG000001623376808007768216743ENSP00000294304LRP51LRP5_HUMANc.303C>Tp.N101NsynNA-T=1/C=8587;T=0/C=4400;T=1/C=12987lod=42:369---het2
201168115526CTENST00000529993ENSG000001623376808007768216743ENSP00000436652LRP51-c.303C>Tp.N101NsynNA-T=1/C=8587;T=0/C=4400;T=1/C=12987lod=42:369---het2
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       Transcripts and variants in the surrounding LRP5 11:68080077..68216743 region Gbrowse