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MSeqDR Data Summary for the Term HOXD13:
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
ENSG00000128714 MSeqDR Search EnsemblHOXD130010ENSG00000128714ENST00000392539ENSP00000376322homeobox D13 [Source:HGNC Symbol;Acc:5136]21769576191769606661q31.1176957619176960666HOXD13HOXD13-001HGNC SymbolHGNC transcript name148.49protein_codingprotein_codingensembl_havaensembl_havaKNOWNPUTATIVE32395136HOXD13NM_00052327508


MSeqDR Master Exome Data Set M1: 22 entries from same gene

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
12176957659CTENST00000392539ENSG00000128714176957619176960666ENSP00000376322HOXD131HXD13_HUMANc.41C>Tp.A14Vnon-synNA0.011-lod=44:374DAMAGINGB-het1
22176957710T+GGCENST00000392539ENSG00000128714176957619176960666ENSP00000376322HOXD131HXD13_HUMANc.92_93insGGCp.V31NAnon-synNA------het1
32176957753CTENST00000392539ENSG00000128714176957619176960666ENSP00000376322HOXD131HXD13_HUMANc.135C>Tp.S45SsynNA--lod=84:443---het1
42176957776ATENST00000392539ENSG00000128714176957619176960666ENSP00000376322HOXD131HXD13_HUMANc.158A>Tp.H53Lnon-synNA--lod=84:443DAMAGINGD-het1
52176957785G+GGCENST00000392539ENSG00000128714176957619176960666ENSP00000376322HOXD131HXD13_HUMANc.167_168insGGCp.R56NAnon-synNA-----HGMDhet1
62176957822GAENST00000392539ENSG00000128714176957619176960666ENSP00000376322HOXD131HXD13_HUMANc.204G>Ap.A68Asynrs25180530.7-lod=92:452---het235
72176957822GAENST00000392539ENSG00000128714176957619176960666ENSP00000376322HOXD131HXD13_HUMANc.204G>Ap.A68Asynrs25180530.7-lod=92:452---hom84
82176957885GAENST00000392539ENSG00000128714176957619176960666ENSP00000376322HOXD131HXD13_HUMANc.267G>Ap.S89SsynNA--lod=76:432---het1
92176957914CTENST00000392539ENSG00000128714176957619176960666ENSP00000376322HOXD131HXD13_HUMANc.296C>Tp.P99Lnon-synrs143487752-T=1/C=8007;T=0/C=4054;T=1/C=12061lod=39:361DAMAGINGD-het1
102176958188ATENST00000392539ENSG00000128714176957619176960666ENSP00000376322HOXD131HXD13_HUMANc.570A>Tp.V190VsynNA--lod=363:599---het1
112176959247GAENST00000392539ENSG00000128714176957619176960666ENSP00000376322HOXD131HXD13_HUMANc.821G>Ap.R274Qnon-synNA--lod=100:461DAMAGINGD-het2
122176959582TCENST00000392539ENSG00000128714176957619176960666ENSP00000376322HOXD131HXD13_HUMAN--3'_UTRNA--lod=68:420---het1
132176959769CTENST00000392539ENSG00000128714176957619176960666ENSP00000376322HOXD131HXD13_HUMAN--3'_UTRrs729234260.04519-----hom8
142176959769CTENST00000392539ENSG00000128714176957619176960666ENSP00000376322HOXD131HXD13_HUMAN--3'_UTRrs729234260.04519-----het99
152176959810G+TENST00000392539ENSG00000128714176957619176960666ENSP00000376322HOXD131HXD13_HUMAN--3'_UTRrs146564993------het15
162176960161AGENST00000392539ENSG00000128714176957619176960666ENSP00000376322HOXD131HXD13_HUMAN--3'_UTRrs1378969650.0021-----het3
172176960171C-ATENST00000392539ENSG00000128714176957619176960666ENSP00000376322HOXD131HXD13_HUMAN--3'_UTRNA--lod=16:265---het4
182176960195GAENST00000392539ENSG00000128714176957619176960666ENSP00000376322HOXD131HXD13_HUMAN--3'_UTRrs730299370.0394-lod=23:304---het1
192176960260AGENST00000392539ENSG00000128714176957619176960666ENSP00000376322HOXD131HXD13_HUMAN--3'_UTRrs1122592800.009-----het1
202176960272CTENST00000392539ENSG00000128714176957619176960666ENSP00000376322HOXD131HXD13_HUMAN--3'_UTRNA------het1
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       Transcripts and variants in the surrounding HOXD13 2:176957619..176960666 region Gbrowse