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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Central Portal

MSeqDR Data Summary for the Term ENSG00000213918:

Ensembl Gene ID	Associated Gene Name	LSDB Genes	LSDB Variants	clinVar hits	Ensembl Gene ID	Ensembl Transcript ID	Ensembl Protein ID	Description	Chr	Gene Start	Gene End	Strand	Band	Transcript Start bp	Transcript End bp	Associated Gene Name	Associated Transcript Name	Associated Gene DB	Associated Transcript DB	Transcript count	pct GC content	Gene Biotype	Transcript Biotype	Source Gene	Source Transcript	Status gene	Status transcript	EntrezGene ID	HGNC ID	HGNC Symbol	RefSeq mRNA	Seq region id
ENSG00000213918	DNASE1	0	0	2	ENSG00000213918	ENST00000570769	ENSP00000458467	deoxyribonuclease I [Source:HGNC Symbol;Acc:2956]	16	3661729	3730144	1	p13.3	3661729	3708096	DNASE1	DNASE1-006	HGNC Symbol	HGNC transcript name	16	49.35	protein_coding	nonsense_mediated_decay	ensembl_hava	havana	KNOWN	KNOWN	1773	2956	DNASE1		27514

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

No.	Chr	Position	Reference	Variant	EnsemblTranscriptID	EnsemblGeneID	Gene_Start	Gene_End	EnsemblProteinID	Gene	strand	Uniprot	cChange	pChange	Nature	dbSNP	Freq	EVS	phastCons	SIFT	Polyphen	HGMD	type	samples
1	16	3690745	T	C	ENST00000570769	ENSG00000213918	3661729	3730144	ENSP00000458467	DNASE1	1	-	-	-	5'_UTR	rs116572768	0.0625	-	-	-	-	-	het	1
2	16	3703475	T	C	ENST00000246949	ENSG00000213918	3661729	3730144	ENSP00000246949	DNASE1	1	DNAS1_HUMAN	-	-	5'_UTR	rs45606645	0.05821	-	lod=74:429	-	-	-	het	1
3	16	3703509	G	A	ENST00000246949	ENSG00000213918	3661729	3730144	ENSP00000246949	DNASE1	1	DNAS1_HUMAN	-	-	5'_UTR	rs45626736	0.05939	-	lod=74:429	-	-	-	hom	1
4	16	3703509	G	A	ENST00000246949	ENSG00000213918	3661729	3730144	ENSP00000246949	DNASE1	1	DNAS1_HUMAN	-	-	5'_UTR	rs45626736	0.05939	-	lod=74:429	-	-	-	het	2
5	16	3703576	G	A	ENST00000246949	ENSG00000213918	3661729	3730144	ENSP00000246949	DNASE1	1	DNAS1_HUMAN	-	-	5'_UTR	rs111733271	0.0233	-	lod=74:429	-	-	-	het	1
6	16	3705359	C	T	ENST00000246949	ENSG00000213918	3661729	3730144	ENSP00000246949	DNASE1	1	DNAS1_HUMAN	-	-	-15bp 3'_splice_site	rs8176922	0.0583	T=500/C=8100;T=51/C=4343;T=551/C=12443	-	-	-	-	het	75
7	16	3705359	C	T	ENST00000246949	ENSG00000213918	3661729	3730144	ENSP00000246949	DNASE1	1	DNAS1_HUMAN	-	-	-15bp 3'_splice_site	rs8176922	0.0583	T=500/C=8100;T=51/C=4343;T=551/C=12443	-	-	-	-	hom	3
8	16	3705359	C	T	ENST00000407479	ENSG00000213918	3661729	3730144	ENSP00000385905	DNASE1	1	DNAS1_HUMAN	-	-	-15bp 3'_splice_site	rs8176922	0.0583	T=500/C=8100;T=51/C=4343;T=551/C=12443	-	-	-	-	het	75
9	16	3705359	C	T	ENST00000407479	ENSG00000213918	3661729	3730144	ENSP00000385905	DNASE1	1	DNAS1_HUMAN	-	-	-15bp 3'_splice_site	rs8176922	0.0583	T=500/C=8100;T=51/C=4343;T=551/C=12443	-	-	-	-	hom	3
10	16	3705359	C	T	ENST00000414110	ENSG00000213918	3661729	3730144	ENSP00000416699	DNASE1	1	-	-	-	-15bp 3'_splice_site	rs8176922	0.0583	T=500/C=8100;T=51/C=4343;T=551/C=12443	-	-	-	-	het	75
11	16	3705359	C	T	ENST00000414110	ENSG00000213918	3661729	3730144	ENSP00000416699	DNASE1	1	-	-	-	-15bp 3'_splice_site	rs8176922	0.0583	T=500/C=8100;T=51/C=4343;T=551/C=12443	-	-	-	-	hom	3
12	16	3705359	C	T	ENST00000570376	ENSG00000213918	3661729	3730144	ENSP00000461725	DNASE1	1	-	-	-	-15bp 3'_splice_site	rs8176922	0.0583	T=500/C=8100;T=51/C=4343;T=551/C=12443	-	-	-	-	het	75
13	16	3705359	C	T	ENST00000570376	ENSG00000213918	3661729	3730144	ENSP00000461725	DNASE1	1	-	-	-	-15bp 3'_splice_site	rs8176922	0.0583	T=500/C=8100;T=51/C=4343;T=551/C=12443	-	-	-	-	hom	3
14	16	3705359	C	T	ENST00000570520	ENSG00000213918	3661729	3730144	-	DNASE1	1	-	-	-	-15bp 3'_splice_site	rs8176922	0.0583	T=500/C=8100;T=51/C=4343;T=551/C=12443	-	-	-	-	het	75
15	16	3705359	C	T	ENST00000570520	ENSG00000213918	3661729	3730144	-	DNASE1	1	-	-	-	-15bp 3'_splice_site	rs8176922	0.0583	T=500/C=8100;T=51/C=4343;T=551/C=12443	-	-	-	-	hom	3
16	16	3705359	C	T	ENST00000570769	ENSG00000213918	3661729	3730144	ENSP00000458467	DNASE1	1	-	-	-	-15bp 3'_splice_site	rs8176922	0.0583	T=500/C=8100;T=51/C=4343;T=551/C=12443	-	-	-	-	het	75
17	16	3705359	C	T	ENST00000570769	ENSG00000213918	3661729	3730144	ENSP00000458467	DNASE1	1	-	-	-	-15bp 3'_splice_site	rs8176922	0.0583	T=500/C=8100;T=51/C=4343;T=551/C=12443	-	-	-	-	hom	3
18	16	3705359	C	T	ENST00000571460	ENSG00000213918	3661729	3730144	ENSP00000459850	DNASE1	1	-	-	-	-15bp 3'_splice_site	rs8176922	0.0583	T=500/C=8100;T=51/C=4343;T=551/C=12443	-	-	-	-	het	75
19	16	3705359	C	T	ENST00000571460	ENSG00000213918	3661729	3730144	ENSP00000459850	DNASE1	1	-	-	-	-15bp 3'_splice_site	rs8176922	0.0583	T=500/C=8100;T=51/C=4343;T=551/C=12443	-	-	-	-	hom	3
20	16	3705359	C	T	ENST00000576050	ENSG00000213918	3661729	3730144	ENSP00000461745	DNASE1	1	-	-	-	-15bp 3'_splice_site	rs8176922	0.0583	T=500/C=8100;T=51/C=4343;T=551/C=12443	-	-	-	-	het	75

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Transcripts and variants in the surrounding DNASE1 16:3661729..3730144 region Gbrowse