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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 DSC2:

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
ENSG00000134755	DSC2	0	0	134	ENSG00000134755	ENST00000251081	ENSP00000251081	desmocollin 2 [Source:HGNC Symbol;Acc:3036]	18	28645940	28682378	-1	q12.1	28645940	28681967	DSC2	DSC2-002	HGNC Symbol	HGNC transcript name	2	36.77	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	1824	3036	DSC2	NM_004949	27512

MSeqDR Master Exome Data Set M1: 117 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	18	28645952	T	A	ENST00000251081	ENSG00000134755	28645940	28682378	ENSP00000251081	DSC2	-1	DSC2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
2	18	28646042	T	C	ENST00000251081	ENSG00000134755	28645940	28682378	ENSP00000251081	DSC2	-1	DSC2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
3	18	28646042	T	C	ENST00000280904	ENSG00000134755	28645940	28682378	ENSP00000280904	DSC2	-1	DSC2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
4	18	28646054	A	G	ENST00000251081	ENSG00000134755	28645940	28682378	ENSP00000251081	DSC2	-1	DSC2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	4
5	18	28646054	A	G	ENST00000280904	ENSG00000134755	28645940	28682378	ENSP00000280904	DSC2	-1	DSC2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	4
6	18	28646323	C	T	ENST00000251081	ENSG00000134755	28645940	28682378	ENSP00000251081	DSC2	-1	DSC2_HUMAN	-	-	3'_UTR	rs185216732	0.00189	-	-	-	-	-	het	11
7	18	28646323	C	T	ENST00000280904	ENSG00000134755	28645940	28682378	ENSP00000280904	DSC2	-1	DSC2_HUMAN	-	-	3'_UTR	rs185216732	0.00189	-	-	-	-	-	het	11
8	18	28646353	A	C	ENST00000251081	ENSG00000134755	28645940	28682378	ENSP00000251081	DSC2	-1	DSC2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
9	18	28646353	A	C	ENST00000280904	ENSG00000134755	28645940	28682378	ENSP00000280904	DSC2	-1	DSC2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
10	18	28646377	T	C	ENST00000251081	ENSG00000134755	28645940	28682378	ENSP00000251081	DSC2	-1	DSC2_HUMAN	-	-	3'_UTR	rs188072930	0.0356	-	-	-	-	-	het	7
11	18	28646377	T	C	ENST00000280904	ENSG00000134755	28645940	28682378	ENSP00000280904	DSC2	-1	DSC2_HUMAN	-	-	3'_UTR	rs188072930	0.0356	-	-	-	-	-	het	7
12	18	28646618	C	-ATGAA	ENST00000251081	ENSG00000134755	28645940	28682378	ENSP00000251081	DSC2	-1	DSC2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
13	18	28646618	C	-ATGAA	ENST00000280904	ENSG00000134755	28645940	28682378	ENSP00000280904	DSC2	-1	DSC2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
14	18	28646823	T	C	ENST00000251081	ENSG00000134755	28645940	28682378	ENSP00000251081	DSC2	-1	DSC2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
15	18	28646823	T	C	ENST00000280904	ENSG00000134755	28645940	28682378	ENSP00000280904	DSC2	-1	DSC2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
16	18	28646885	A	G	ENST00000251081	ENSG00000134755	28645940	28682378	ENSP00000251081	DSC2	-1	DSC2_HUMAN	-	-	3'_UTR	rs74749519	0.0515	-	-	-	-	-	het	5
17	18	28646885	A	G	ENST00000280904	ENSG00000134755	28645940	28682378	ENSP00000280904	DSC2	-1	DSC2_HUMAN	-	-	3'_UTR	rs74749519	0.0515	-	-	-	-	-	het	5
18	18	28646964	G	A	ENST00000251081	ENSG00000134755	28645940	28682378	ENSP00000251081	DSC2	-1	DSC2_HUMAN	-	-	3'_UTR	rs191171295	0.00093	-	-	-	-	-	het	1
19	18	28646964	G	A	ENST00000280904	ENSG00000134755	28645940	28682378	ENSP00000280904	DSC2	-1	DSC2_HUMAN	-	-	3'_UTR	rs191171295	0.00093	-	-	-	-	-	het	1
20	18	28647216	T	+A	ENST00000251081	ENSG00000134755	28645940	28682378	ENSP00000251081	DSC2	-1	DSC2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1

** A friendly reminder: guest user can access up to first 20 entries per gene from MSeqDR Master Exome Data Set M1. To gain access to the full power of MSeqDR, please login, or register, then request access to data.

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Transcripts and variants in the surrounding DSC2 18:28645940..28682378 region Gbrowse