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MSeqDR Data Summary for the Term ASXL1:
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
ENSG00000171456 MSeqDR Search EnsemblASXL10035ENSG00000171456ENST00000375687ENSP00000364839additional sex combs like 1 (Drosophila) [Source:HGNC Symbol;Acc:18318]2030946155310271221q11.213094615531027122ASXL1ASXL1-001HGNC SymbolHGNC transcript name942.17protein_codingprotein_codingensembl_havaensembl_havaKNOWNKNOWN17102318318ASXL1NM_01533827522


MSeqDR Master Exome Data Set M1: 219 entries from same gene

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
12030946297CTENST00000375687ENSG000001714563094615531027122ENSP00000364839ASXL11ASXL1_HUMAN--5'_UTRNA--lod=129:489---het5
22030946297CTENST00000542461ENSG000001714563094615531027122ENSP00000438654ASXL11---5'_UTRNA--lod=129:489---het5
32030946482CTENST00000375687ENSG000001714563094615531027122ENSP00000364839ASXL11ASXL1_HUMAN--5'_UTRNA------hom1
42030946482CTENST00000542461ENSG000001714563094615531027122ENSP00000438654ASXL11---5'_UTRNA------hom1
52030946485CGENST00000375687ENSG000001714563094615531027122ENSP00000364839ASXL11ASXL1_HUMAN--5'_UTRNA------het1
62030946485CGENST00000542461ENSG000001714563094615531027122ENSP00000438654ASXL11---5'_UTRNA------het1
72030947869C-AENST00000555343ENSG000001714563094615531027122-ASXL11-c.51_51delp.A17NAnon-synrs11315373------het6
82030954250G+AAENST00000306058ENSG000001714563094615531027122ENSP00000305119ASXL11-c.109_110insAAp.E37NAnon-synNA--lod=342:593---het2
92030954250G+AAENST00000375687ENSG000001714563094615531027122ENSP00000364839ASXL11ASXL1_HUMANc.121_122insAAp.E41NAnon-synNA--lod=342:593---het2
102030954250G+AAENST00000375689ENSG000001714563094615531027122ENSP00000364841ASXL11-c.109_110insAAp.E37NAnon-synNA--lod=342:593---het2
112030954250G+AAENST00000470145ENSG000001714563094615531027122-ASXL11-c.64_65insAAp.E22NAnon-synNA--lod=342:593---het2
122030954250G+AAENST00000497249ENSG000001714563094615531027122ENSP00000451216ASXL11-c.86_87insAAp.R29NAnon-synNA--lod=342:593---het2
132030954250G+AAENST00000542461ENSG000001714563094615531027122ENSP00000438654ASXL11-c.121_122insAAp.E41NAnon-synNA--lod=342:593---het2
142030954250G+AAENST00000555343ENSG000001714563094615531027122-ASXL11-c.731_732insAAp.R244NAnon-synNA--lod=342:593---het2
152030954276ATENST00000306058ENSG000001714563094615531027122ENSP00000305119ASXL11---+7bp 5'_splice_siteNA--lod=342:593---het1
162030954276ATENST00000375687ENSG000001714563094615531027122ENSP00000364839ASXL11ASXL1_HUMAN--+7bp 5'_splice_siteNA--lod=342:593---het1
172030954276ATENST00000375689ENSG000001714563094615531027122ENSP00000364841ASXL11---+7bp 5'_splice_siteNA--lod=342:593---het1
182030954276ATENST00000470145ENSG000001714563094615531027122-ASXL11---+7bp 5'_splice_siteNA--lod=342:593---het1
192030954276ATENST00000497249ENSG000001714563094615531027122ENSP00000451216ASXL11---+7bp 5'_splice_siteNA--lod=342:593---het1
202030954276ATENST00000542461ENSG000001714563094615531027122ENSP00000438654ASXL11---+7bp 5'_splice_siteNA--lod=342:593---het1
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       Transcripts and variants in the surrounding ASXL1 20:30946155..31027122 region Gbrowse