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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 DES:

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
ENSG00000175084	DES	1	3	159	ENSG00000175084	ENST00000373960	ENSP00000363071	desmin [Source:HGNC Symbol;Acc:2770]	2	220283099	220291461	1	q35	220283099	220291461	DES	DES-001	HGNC Symbol	HGNC transcript name	4	55.28	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	1674	2770	DES	NM_001927	27508

MSeqDR Master Exome Data Set M1: 91 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	2	220283233	A	T	ENST00000373960	ENSG00000175084	220283099	220291461	ENSP00000363071	DES	1	DESM_HUMAN	c.49A>T	p.T17S	non-syn	NA	-	-	lod=424:616	DAMAGING	NA	-	het	1
2	2	220283259	A	G	ENST00000373960	ENSG00000175084	220283099	220291461	ENSP00000363071	DES	1	DESM_HUMAN	c.75A>G	p.P25P	syn	rs1318299	0.9973	G=7309/A=91;G=2679/A=1053;G=9988/A=1144	lod=206:539	-	-	-	hom	833
3	2	220283259	A	G	ENST00000373960	ENSG00000175084	220283099	220291461	ENSP00000363071	DES	1	DESM_HUMAN	c.75A>G	p.P25P	syn	rs1318299	0.9973	G=7309/A=91;G=2679/A=1053;G=9988/A=1144	lod=206:539	-	-	-	het	24
4	2	220283277	T	C	ENST00000373960	ENSG00000175084	220283099	220291461	ENSP00000363071	DES	1	DESM_HUMAN	c.93T>C	p.S31S	syn	rs2017800	0.9976	C=7562/T=92;C=2646/T=1308;C=10208/T=1400	lod=206:539	-	-	-	het	26
5	2	220283277	T	C	ENST00000373960	ENSG00000175084	220283099	220291461	ENSP00000363071	DES	1	DESM_HUMAN	c.93T>C	p.S31S	syn	rs2017800	0.9976	C=7562/T=92;C=2646/T=1308;C=10208/T=1400	lod=206:539	-	-	-	hom	820
6	2	220283411	C	T	ENST00000373960	ENSG00000175084	220283099	220291461	ENSP00000363071	DES	1	DESM_HUMAN	c.227C>T	p.T76I	non-syn	NA	-	-	-	TOLERATED	NA	-	het	2
7	2	220283556	G	A	ENST00000373960	ENSG00000175084	220283099	220291461	ENSP00000363071	DES	1	DESM_HUMAN	c.372G>A	p.E124E	syn	rs34365369	0.0537	A=6/G=8588;A=225/G=4169;A=231/G=12757	lod=1298:735	-	-	-	het	4
8	2	220283592	C	T	ENST00000373960	ENSG00000175084	220283099	220291461	ENSP00000363071	DES	1	DESM_HUMAN	c.408C>T	p.L136L	syn	rs111828114	0.0477	T=301/C=8259;T=29/C=4337;T=330/C=12596	lod=1298:735	-	-	-	het	51
9	2	220283773	G	A	ENST00000373960	ENSG00000175084	220283099	220291461	ENSP00000363071	DES	1	DESM_HUMAN	-	-	+11bp 5'_splice_site	rs111548596	0.1457	A=10/G=6734;A=450/G=2798;A=460/G=9532	-	-	-	-	hom	2
10	2	220283773	G	A	ENST00000373960	ENSG00000175084	220283099	220291461	ENSP00000363071	DES	1	DESM_HUMAN	-	-	+11bp 5'_splice_site	rs111548596	0.1457	A=10/G=6734;A=450/G=2798;A=460/G=9532	-	-	-	-	het	9
11	2	220284779	C	T	ENST00000477226	ENSG00000175084	220283099	220291461	-	DES	1	-	c.13C>T	p.H5Y	non-syn	rs12991025	0.6293	T=5421/C=3179;T=817/C=3589;T=6238/C=6768	-	-	-	-	het	464
12	2	220284779	C	T	ENST00000477226	ENSG00000175084	220283099	220291461	-	DES	1	-	c.13C>T	p.H5Y	non-syn	rs12991025	0.6293	T=5421/C=3179;T=817/C=3589;T=6238/C=6768	-	-	-	-	hom	365
13	2	220284873	G	A	ENST00000373960	ENSG00000175084	220283099	220291461	ENSP00000363071	DES	1	DESM_HUMAN	c.635G>A	p.R212Q	non-syn	rs144261171	-	A=2/G=8598;A=0/G=4406;A=2/G=13004	lod=386:606	TOLERATED	D	-	het	1
14	2	220284873	G	A	ENST00000477226	ENSG00000175084	220283099	220291461	-	DES	1	-	c.107G>A	p.R36Q	non-syn	rs144261171	-	A=2/G=8598;A=0/G=4406;A=2/G=13004	lod=386:606	TOLERATED	D	-	het	1
15	2	220284873	G	A	ENST00000492726	ENSG00000175084	220283099	220291461	-	DES	1	-	c.30G>A	p.P10P	syn	rs144261171	-	A=2/G=8598;A=0/G=4406;A=2/G=13004	lod=386:606	TOLERATED	D	-	het	1
16	2	220284876	C	T	ENST00000373960	ENSG00000175084	220283099	220291461	ENSP00000363071	DES	1	DESM_HUMAN	c.638C>T	p.A213V	non-syn	rs41272699	0.01058	T=118/C=8482;T=19/C=4387;T=137/C=12869	lod=386:606	DAMAGING	B	-	het	20
17	2	220284876	C	T	ENST00000373960	ENSG00000175084	220283099	220291461	ENSP00000363071	DES	1	DESM_HUMAN	c.638C>T	p.A213V	non-syn	rs41272699	0.01058	T=118/C=8482;T=19/C=4387;T=137/C=12869	lod=386:606	DAMAGING	B	-	hom	2
18	2	220284876	C	T	ENST00000477226	ENSG00000175084	220283099	220291461	-	DES	1	-	c.110C>T	p.A37V	non-syn	rs41272699	0.01058	T=118/C=8482;T=19/C=4387;T=137/C=12869	lod=386:606	DAMAGING	B	-	het	20
19	2	220284876	C	T	ENST00000477226	ENSG00000175084	220283099	220291461	-	DES	1	-	c.110C>T	p.A37V	non-syn	rs41272699	0.01058	T=118/C=8482;T=19/C=4387;T=137/C=12869	lod=386:606	DAMAGING	B	-	hom	2
20	2	220284876	C	T	ENST00000492726	ENSG00000175084	220283099	220291461	-	DES	1	-	c.33C>T	p.S11S	syn	rs41272699	0.01058	T=118/C=8482;T=19/C=4387;T=137/C=12869	lod=386:606	DAMAGING	B	-	het	20

** 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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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding DES 2:220283099..220291461 region Gbrowse