MSeqDR Central Portal

MSeqDR Data Summary for the Term DNASE1:
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
ENSG00000213918 MSeqDR Search EnsemblDNASE1002ENSG00000213918ENST00000570769ENSP00000458467deoxyribonuclease I [Source:HGNC Symbol;Acc:2956]16366172937301441p13.336617293708096DNASE1DNASE1-006HGNC SymbolHGNC transcript name1649.35protein_codingnonsense_mediated_decayensembl_havahavanaKNOWNKNOWN17732956DNASE127514


MSeqDR Master Exome Data Set M1: 412 entries from same gene

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
1163690745TCENST00000570769ENSG0000021391836617293730144ENSP00000458467DNASE11---5'_UTRrs1165727680.0625-----het1
2163703475TCENST00000246949ENSG0000021391836617293730144ENSP00000246949DNASE11DNAS1_HUMAN--5'_UTRrs456066450.05821-lod=74:429---het1
3163703509GAENST00000246949ENSG0000021391836617293730144ENSP00000246949DNASE11DNAS1_HUMAN--5'_UTRrs456267360.05939-lod=74:429---hom1
4163703509GAENST00000246949ENSG0000021391836617293730144ENSP00000246949DNASE11DNAS1_HUMAN--5'_UTRrs456267360.05939-lod=74:429---het2
5163703576GAENST00000246949ENSG0000021391836617293730144ENSP00000246949DNASE11DNAS1_HUMAN--5'_UTRrs1117332710.0233-lod=74:429---het1
6163705359CTENST00000246949ENSG0000021391836617293730144ENSP00000246949DNASE11DNAS1_HUMAN---15bp 3'_splice_siters81769220.0583T=500/C=8100;T=51/C=4343;T=551/C=12443----het75
7163705359CTENST00000246949ENSG0000021391836617293730144ENSP00000246949DNASE11DNAS1_HUMAN---15bp 3'_splice_siters81769220.0583T=500/C=8100;T=51/C=4343;T=551/C=12443----hom3
8163705359CTENST00000407479ENSG0000021391836617293730144ENSP00000385905DNASE11DNAS1_HUMAN---15bp 3'_splice_siters81769220.0583T=500/C=8100;T=51/C=4343;T=551/C=12443----het75
9163705359CTENST00000407479ENSG0000021391836617293730144ENSP00000385905DNASE11DNAS1_HUMAN---15bp 3'_splice_siters81769220.0583T=500/C=8100;T=51/C=4343;T=551/C=12443----hom3
10163705359CTENST00000414110ENSG0000021391836617293730144ENSP00000416699DNASE11----15bp 3'_splice_siters81769220.0583T=500/C=8100;T=51/C=4343;T=551/C=12443----het75
11163705359CTENST00000414110ENSG0000021391836617293730144ENSP00000416699DNASE11----15bp 3'_splice_siters81769220.0583T=500/C=8100;T=51/C=4343;T=551/C=12443----hom3
12163705359CTENST00000570376ENSG0000021391836617293730144ENSP00000461725DNASE11----15bp 3'_splice_siters81769220.0583T=500/C=8100;T=51/C=4343;T=551/C=12443----het75
13163705359CTENST00000570376ENSG0000021391836617293730144ENSP00000461725DNASE11----15bp 3'_splice_siters81769220.0583T=500/C=8100;T=51/C=4343;T=551/C=12443----hom3
14163705359CTENST00000570520ENSG0000021391836617293730144-DNASE11----15bp 3'_splice_siters81769220.0583T=500/C=8100;T=51/C=4343;T=551/C=12443----het75
15163705359CTENST00000570520ENSG0000021391836617293730144-DNASE11----15bp 3'_splice_siters81769220.0583T=500/C=8100;T=51/C=4343;T=551/C=12443----hom3
16163705359CTENST00000570769ENSG0000021391836617293730144ENSP00000458467DNASE11----15bp 3'_splice_siters81769220.0583T=500/C=8100;T=51/C=4343;T=551/C=12443----het75
17163705359CTENST00000570769ENSG0000021391836617293730144ENSP00000458467DNASE11----15bp 3'_splice_siters81769220.0583T=500/C=8100;T=51/C=4343;T=551/C=12443----hom3
18163705359CTENST00000571460ENSG0000021391836617293730144ENSP00000459850DNASE11----15bp 3'_splice_siters81769220.0583T=500/C=8100;T=51/C=4343;T=551/C=12443----het75
19163705359CTENST00000571460ENSG0000021391836617293730144ENSP00000459850DNASE11----15bp 3'_splice_siters81769220.0583T=500/C=8100;T=51/C=4343;T=551/C=12443----hom3
20163705359CTENST00000576050ENSG0000021391836617293730144ENSP00000461745DNASE11----15bp 3'_splice_siters81769220.0583T=500/C=8100;T=51/C=4343;T=551/C=12443----het75
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       Transcripts and variants in the surrounding DNASE1 16:3661729..3730144 region Gbrowse