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MSeqDR Data Summary for the Term PNPLA2:
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
ENSG00000177666 MSeqDR Search EnsemblPNPLA21011ENSG00000177666ENST00000336615ENSP00000337701patatin-like phospholipase domain containing 2 [Source:HGNC Symbol;Acc:30802]118189028255731p15.5818902825573PNPLA2PNPLA2-001HGNC SymbolHGNC transcript name664.55protein_codingprotein_codingensembl_havaensembl_havaKNOWNKNOWN5710430802PNPLA2NM_02037627504


MSeqDR Master Exome Data Set M1: 149 entries from same gene

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
111819600CTENST00000336615ENSG00000177666818902825573ENSP00000337701PNPLA21PLPL2_HUMAN--5'_UTRNA------het2
211819625GCENST00000336615ENSG00000177666818902825573ENSP00000337701PNPLA21PLPL2_HUMAN--5'_UTRNA------het2
311819920GAENST00000336615ENSG00000177666818902825573ENSP00000337701PNPLA21PLPL2_HUMAN--+15bp 5'_splice_siteNA-A=2/G=3100;A=144/G=1332;A=146/G=4432----het3
411821516GAENST00000525250ENSG00000177666818902825573-PNPLA21-c.682G>Ap.G228Rnon-synNA------het1
511821676GAENST00000336615ENSG00000177666818902825573ENSP00000337701PNPLA21PLPL2_HUMANc.236G>Ap.R79Qnon-synrs139576982-A=7/G=8591;A=0/G=4406;A=7/G=12997lod=310:582DAMAGINGD-het3
611821676GAENST00000525250ENSG00000177666818902825573-PNPLA21-c.842G>Ap.R281Qnon-synrs139576982-A=7/G=8591;A=0/G=4406;A=7/G=12997lod=310:582DAMAGINGD-het3
711821809CTENST00000336615ENSG00000177666818902825573ENSP00000337701PNPLA21PLPL2_HUMANc.369C>Tp.D123Dsynrs142174851-T=5/C=8593;T=0/C=4404;T=5/C=12997lod=238:554---het1
811821809CTENST00000525250ENSG00000177666818902825573-PNPLA21-c.975C>Tp.D325Dsynrs142174851-T=5/C=8593;T=0/C=4404;T=5/C=12997lod=238:554---het1
911821809CTENST00000534561ENSG00000177666818902825573-PNPLA21-c.36C>Tp.D12Dsynrs142174851-T=5/C=8593;T=0/C=4404;T=5/C=12997lod=238:554---het1
1011821839CTENST00000336615ENSG00000177666818902825573ENSP00000337701PNPLA21PLPL2_HUMANc.399C>Tp.N133Nsynrs143992505-T=5/C=8593;T=0/C=4406;T=5/C=12999lod=238:554---het1
1111821839CTENST00000525250ENSG00000177666818902825573-PNPLA21-c.1005C>Tp.N335Nsynrs143992505-T=5/C=8593;T=0/C=4406;T=5/C=12999lod=238:554---het1
1211821839CTENST00000534561ENSG00000177666818902825573-PNPLA21-c.66C>Tp.N22Nsynrs143992505-T=5/C=8593;T=0/C=4406;T=5/C=12999lod=238:554---het1
1311821972CTENST00000336615ENSG00000177666818902825573ENSP00000337701PNPLA21PLPL2_HUMANc.435C>Tp.S145SsynNA--lod=109:471---het1
1411821972CTENST00000525250ENSG00000177666818902825573-PNPLA21-c.1041C>Tp.S347SsynNA--lod=109:471---het1
1511821972CTENST00000534561ENSG00000177666818902825573-PNPLA21-c.102C>Tp.S34SsynNA--lod=109:471---het1
1611822047C-CTTENST00000531923ENSG00000177666818902825573-PNPLA21-c.33_35delp.T11NAnon-synNA------het1
1711822047C-CTTENST00000534561ENSG00000177666818902825573-PNPLA21-c.178_180delp.L60NAnon-synNA------het1
1811822305G-GGCCCTTGGTENST00000531923ENSG00000177666818902825573-PNPLA21-c.291_300delp.G97NAnon-synrs201746782------het3
1911822389CTENST00000336615ENSG00000177666818902825573ENSP00000337701PNPLA21PLPL2_HUMAN---8bp 3'_splice_siters201418203-T=8/C=8590;T=1/C=4405;T=9/C=12995----het8
2011822389CTENST00000336615ENSG00000177666818902825573ENSP00000337701PNPLA21PLPL2_HUMAN---8bp 3'_splice_siters201418203-T=8/C=8590;T=1/C=4405;T=9/C=12995----hom1
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       Transcripts and variants in the surrounding PNPLA2 11:818902..825573 region Gbrowse