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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 DYM:

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
ENSG00000141627	DYM	0	0	16	ENSG00000141627	ENST00000583280	ENSP00000462466	dymeclin [Source:HGNC Symbol;Acc:21317]	18	46570039	46987717	-1	q21.1	46812867	46895077	DYM	DYM-008	HGNC Symbol	HGNC transcript name	20	38.53	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	PUTATIVE	54808	21317	DYM		27512

MSeqDR Master Exome Data Set M1: 114 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	46570376	T	C	ENST00000269445	ENSG00000141627	46570039	46987717	ENSP00000269445	DYM	-1	DYM_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
2	18	46570376	T	C	ENST00000442713	ENSG00000141627	46570039	46987717	ENSP00000395942	DYM	-1	DYM_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
3	18	46570376	T	C	ENST00000577734	ENSG00000141627	46570039	46987717	ENSP00000464163	DYM	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
4	18	46623694	G	C	ENST00000583270	ENSG00000141627	46570039	46987717	-	DYM	-1	-	c.448C>G	p.P150A	non-syn	rs142828436	0.0044	-	-	-	-	-	het	2
5	18	46623736	G	A	ENST00000583270	ENSG00000141627	46570039	46987717	-	DYM	-1	-	c.406C>T	p.R136C	non-syn	NA	-	A=12/G=8588;A=2/G=4404;A=14/G=12992	-	-	-	-	het	3
6	18	46623763	C	A	ENST00000269445	ENSG00000141627	46570039	46987717	ENSP00000269445	DYM	-1	DYM_HUMAN	-	-	+9bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
7	18	46623763	C	A	ENST00000442713	ENSG00000141627	46570039	46987717	ENSP00000395942	DYM	-1	DYM_HUMAN	-	-	+9bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
8	18	46623763	C	A	ENST00000577734	ENSG00000141627	46570039	46987717	ENSP00000464163	DYM	-1	-	-	-	+9bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
9	18	46623763	C	A	ENST00000583270	ENSG00000141627	46570039	46987717	-	DYM	-1	-	c.379G>T	p.A127S	non-syn	NA	-	-	-	-	-	-	het	1
10	18	46623780	T	C	ENST00000269445	ENSG00000141627	46570039	46987717	ENSP00000269445	DYM	-1	DYM_HUMAN	c.1852A>G	p.R618G	non-syn	rs142608802	-	C=6/T=8594;C=1/T=4405;C=7/T=12999	lod=152:506	DAMAGING	D	-	het	1
11	18	46623780	T	C	ENST00000442713	ENSG00000141627	46570039	46987717	ENSP00000395942	DYM	-1	DYM_HUMAN	c.1282A>G	p.R428G	non-syn	rs142608802	-	C=6/T=8594;C=1/T=4405;C=7/T=12999	lod=152:506	DAMAGING	D	-	het	1
12	18	46623780	T	C	ENST00000577734	ENSG00000141627	46570039	46987717	ENSP00000464163	DYM	-1	-	c.84A>G	p.T28T	syn	rs142608802	-	C=6/T=8594;C=1/T=4405;C=7/T=12999	lod=152:506	DAMAGING	D	-	het	1
13	18	46623780	T	C	ENST00000583270	ENSG00000141627	46570039	46987717	-	DYM	-1	-	c.362A>G	p.Q121R	non-syn	rs142608802	-	C=6/T=8594;C=1/T=4405;C=7/T=12999	lod=152:506	DAMAGING	D	-	het	1
14	18	46623854	T	C	ENST00000269445	ENSG00000141627	46570039	46987717	ENSP00000269445	DYM	-1	DYM_HUMAN	c.1778A>G	p.Q593R	non-syn	rs146000214	0.0021	C=9/T=8591;C=0/T=4406;C=9/T=12997	lod=178:523	TOLERATED	D	-	het	2
15	18	46623854	T	C	ENST00000442713	ENSG00000141627	46570039	46987717	ENSP00000395942	DYM	-1	DYM_HUMAN	c.1208A>G	p.Q403R	non-syn	rs146000214	0.0021	C=9/T=8591;C=0/T=4406;C=9/T=12997	lod=178:523	TOLERATED	D	-	het	2
16	18	46623854	T	C	ENST00000577734	ENSG00000141627	46570039	46987717	ENSP00000464163	DYM	-1	-	c.10A>G	p.K4E	non-syn	rs146000214	0.0021	C=9/T=8591;C=0/T=4406;C=9/T=12997	lod=178:523	TOLERATED	D	-	het	2
17	18	46623854	T	C	ENST00000583270	ENSG00000141627	46570039	46987717	-	DYM	-1	-	c.288A>G	p.A96A	syn	rs146000214	0.0021	C=9/T=8591;C=0/T=4406;C=9/T=12997	lod=178:523	TOLERATED	D	-	het	2
18	18	46623883	C	G	ENST00000269445	ENSG00000141627	46570039	46987717	ENSP00000269445	DYM	-1	DYM_HUMAN	c.1749G>C	p.V583V	syn	rs60818038	0.1179	G=5/C=8595;G=508/C=3898;G=513/C=12493	lod=178:523	-	-	-	het	9
19	18	46623883	C	G	ENST00000442713	ENSG00000141627	46570039	46987717	ENSP00000395942	DYM	-1	DYM_HUMAN	c.1179G>C	p.V393V	syn	rs60818038	0.1179	G=5/C=8595;G=508/C=3898;G=513/C=12493	lod=178:523	-	-	-	het	9
20	18	46623883	C	G	ENST00000583270	ENSG00000141627	46570039	46987717	-	DYM	-1	-	-	-	-15bp 3'_splice_site	rs60818038	0.1179	G=5/C=8595;G=508/C=3898;G=513/C=12493	lod=178:523	-	-	-	het	9

** 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 DYM 18:46570039..46987717 region Gbrowse