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MSeqDR Data Summary for the Term ENSG00000120942:
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
ENSG00000120942 MSeqDR Search EnsemblUBIAD10010ENSG00000120942ENST00000376810ENSP00000366006UbiA prenyltransferase domain containing 1 [Source:HGNC Symbol;Acc:30791]111333263113561061p36.221133326311348491UBIAD1UBIAD1-001HGNC SymbolHGNC transcript name448.21protein_codingprotein_codingensembl_havaensembl_havaKNOWNKNOWN2991430791UBIAD1NM_01331927511


MSeqDR Master Exome Data Set M1: 49 entries from same gene

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
1111333294CTENST00000376810ENSG000001209421133326311356106ENSP00000366006UBIAD11UBIA1_HUMAN--5'_UTRNA--lod=28:325---het1
2111333440CTENST00000376810ENSG000001209421133326311356106ENSP00000366006UBIAD11UBIA1_HUMAN--5'_UTRNA------het1
3111333471CGENST00000376810ENSG000001209421133326311356106ENSP00000366006UBIAD11UBIA1_HUMAN--5'_UTRNA------het1
4111333542TGENST00000376810ENSG000001209421133326311356106ENSP00000366006UBIAD11UBIA1_HUMAN--5'_UTRrs728569920.1349G=8/T=8506;G=744/T=3620;G=752/T=12126----het13
5111333568CTENST00000376810ENSG000001209421133326311356106ENSP00000366006UBIAD11UBIA1_HUMAN--5'_UTRNA------het3
6111333812CTENST00000376804ENSG000001209421133326311356106ENSP00000366000UBIAD11UBIA1_HUMANc.224C>Tp.S75Fnon-synrs1140006060.008T=105/C=8495;T=9/C=4397;T=114/C=12892lod=300:579DAMAGINGB-het23
7111333812CTENST00000376804ENSG000001209421133326311356106ENSP00000366000UBIAD11UBIA1_HUMANc.224C>Tp.S75Fnon-synrs1140006060.008T=105/C=8495;T=9/C=4397;T=114/C=12892lod=300:579DAMAGINGB-hom1
8111333812CTENST00000376810ENSG000001209421133326311356106ENSP00000366006UBIAD11UBIA1_HUMANc.224C>Tp.S75Fnon-synrs1140006060.008T=105/C=8495;T=9/C=4397;T=114/C=12892lod=300:579DAMAGINGB-het23
9111333812CTENST00000376810ENSG000001209421133326311356106ENSP00000366006UBIAD11UBIA1_HUMANc.224C>Tp.S75Fnon-synrs1140006060.008T=105/C=8495;T=9/C=4397;T=114/C=12892lod=300:579DAMAGINGB-hom1
10111333818GAENST00000376804ENSG000001209421133326311356106ENSP00000366000UBIAD11UBIA1_HUMANc.230G>Ap.G77Dnon-synrs201583978-A=1/G=8599;A=0/G=4406;A=1/G=13005lod=300:579TOLERATEDP-het1
11111333818GAENST00000376810ENSG000001209421133326311356106ENSP00000366006UBIAD11UBIA1_HUMANc.230G>Ap.G77Dnon-synrs201583978-A=1/G=8599;A=0/G=4406;A=1/G=13005lod=300:579TOLERATEDP-het1
12111333870GTENST00000376804ENSG000001209421133326311356106ENSP00000366000UBIAD11UBIA1_HUMANc.282G>Tp.V94Vsynrs144106336-T=3/G=8597;T=0/G=4406;T=3/G=13003lod=391:607---het1
13111333870GTENST00000376810ENSG000001209421133326311356106ENSP00000366006UBIAD11UBIA1_HUMANc.282G>Tp.V94Vsynrs144106336-T=3/G=8597;T=0/G=4406;T=3/G=13003lod=391:607---het1
14111345813AGENST00000376810ENSG000001209421133326311356106ENSP00000366006UBIAD11UBIA1_HUMANc.642A>Gp.P214PsynNA--lod=135:493---het1
15111346186TAENST00000376810ENSG000001209421133326311356106ENSP00000366006UBIAD11UBIA1_HUMANc.1015T>Ap.*339Knon-synNA---TOLERATEDNA-het1
16111346336AGENST00000376810ENSG000001209421133326311356106ENSP00000366006UBIAD11UBIA1_HUMAN--3'_UTRrs115800610.02834-----het44
17111346427GAENST00000376810ENSG000001209421133326311356106ENSP00000366006UBIAD11UBIA1_HUMAN--3'_UTRNA------het4
18111346621GAENST00000376810ENSG000001209421133326311356106ENSP00000366006UBIAD11UBIA1_HUMAN--3'_UTRNA------het1
19111346720CTENST00000376810ENSG000001209421133326311356106ENSP00000366006UBIAD11UBIA1_HUMAN--3'_UTRrs1433164820.0114-lod=14:251---het1
20111346800TCENST00000376810ENSG000001209421133326311356106ENSP00000366006UBIAD11UBIA1_HUMAN--3'_UTRNA------het1
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       Transcripts and variants in the surrounding UBIAD1 1:11333263..11356106 region Gbrowse