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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 ENSG00000247626:

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
ENSG00000247626	MARS2	1	8	16	ENSG00000247626	ENST00000282276	ENSP00000282276	methionyl-tRNA synthetase 2, mitochondrial [Source:HGNC Symbol;Acc:25133]	2	198570087	198573113	1	q33.1	198570087	198573113	MARS2	MARS2-001	HGNC Symbol	HGNC transcript name	1	48.43	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	92935	25133	MARS2	NM_138395	27508

MSeqDR Master Exome Data Set M1: 34 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	198570104	T	G	ENST00000282276	ENSG00000247626	198570087	198573113	ENSP00000282276	MARS2	1	SYMM_HUMAN	-	-	5'_UTR	rs202121719	-	G=8/T=8506;G=68/T=4280;G=76/T=12786	-	-	-	-	het	2
2	2	198570141	G	A	ENST00000282276	ENSG00000247626	198570087	198573113	ENSP00000282276	MARS2	1	SYMM_HUMAN	c.12G>A	p.T4T	syn	rs114975857	0.0351	A=2/G=8574;A=97/G=4301;A=99/G=12875	-	-	-	-	het	4
3	2	198570153	C	G	ENST00000282276	ENSG00000247626	198570087	198573113	ENSP00000282276	MARS2	1	SYMM_HUMAN	c.24C>G	p.R8R	syn	rs116491566	0.0286	G=2/C=8586;G=89/C=4315;G=91/C=12901	-	-	-	-	het	4
4	2	198570190	C	G	ENST00000282276	ENSG00000247626	198570087	198573113	ENSP00000282276	MARS2	1	SYMM_HUMAN	c.61C>G	p.L21V	non-syn	rs140705634	-	G=5/C=8595;G=1/C=4405;G=6/C=13000	-	TOLERATED	B	-	het	4
5	2	198570204	C	T	ENST00000282276	ENSG00000247626	198570087	198573113	ENSP00000282276	MARS2	1	SYMM_HUMAN	c.75C>T	p.G25G	syn	NA	-	-	-	-	-	-	het	2
6	2	198570216	C	T	ENST00000282276	ENSG00000247626	198570087	198573113	ENSP00000282276	MARS2	1	SYMM_HUMAN	c.87C>T	p.Y29Y	syn	rs137860531	-	T=3/C=8597;T=1/C=4405;T=4/C=13002	-	-	-	-	het	2
7	2	198570451	C	T	ENST00000282276	ENSG00000247626	198570087	198573113	ENSP00000282276	MARS2	1	SYMM_HUMAN	c.322C>T	p.L108L	syn	NA	-	T=1/C=8591;T=0/C=4404;T=1/C=12995	lod=43:371	-	-	-	het	2
8	2	198570600	C	T	ENST00000282276	ENSG00000247626	198570087	198573113	ENSP00000282276	MARS2	1	SYMM_HUMAN	c.471C>T	p.R157R	syn	rs35544931	0.0767	T=5/C=8595;T=253/C=4153;T=258/C=12748	lod=88:448	-	-	-	het	4
9	2	198570604	C	G	ENST00000282276	ENSG00000247626	198570087	198573113	ENSP00000282276	MARS2	1	SYMM_HUMAN	c.475C>G	p.L159V	non-syn	NA	-	-	lod=88:448	TOLERATED	B	-	het	1
10	2	198570735	A	G	ENST00000282276	ENSG00000247626	198570087	198573113	ENSP00000282276	MARS2	1	SYMM_HUMAN	c.606A>G	p.P202P	syn	rs34908171	0.0131	G=1/A=8599;G=87/A=4319;G=88/A=12918	lod=15:259	-	-	-	het	2
11	2	198570877	C	T	ENST00000282276	ENSG00000247626	198570087	198573113	ENSP00000282276	MARS2	1	SYMM_HUMAN	c.748C>T	p.L250L	syn	rs61749522	0.005	T=1/C=8599;T=53/C=4353;T=54/C=12952	lod=129:489	-	-	-	het	2
12	2	198570930	G	C	ENST00000282276	ENSG00000247626	198570087	198573113	ENSP00000282276	MARS2	1	SYMM_HUMAN	c.801G>C	p.P267P	syn	rs144114997	-	C=2/G=8598;C=0/G=4406;C=2/G=13004	lod=53:393	-	-	-	het	1
13	2	198571035	G	A	ENST00000282276	ENSG00000247626	198570087	198573113	ENSP00000282276	MARS2	1	SYMM_HUMAN	c.906G>A	p.P302P	syn	NA	-	-	-	-	-	-	het	1
14	2	198571223	A	G	ENST00000282276	ENSG00000247626	198570087	198573113	ENSP00000282276	MARS2	1	SYMM_HUMAN	c.1094A>G	p.Y365C	non-syn	rs146365382	-	G=3/A=8597;G=0/A=4406;G=3/A=13003	lod=119:480	DAMAGING	D	-	het	6
15	2	198571709	T	C	ENST00000282276	ENSG00000247626	198570087	198573113	ENSP00000282276	MARS2	1	SYMM_HUMAN	c.1580T>C	p.V527A	non-syn	rs141544058	0.0429	C=0/T=8600;C=6/T=4400;C=6/T=13000	lod=375:603	TOLERATED	P	-	het	5
16	2	198571802	A	G	ENST00000282276	ENSG00000247626	198570087	198573113	ENSP00000282276	MARS2	1	SYMM_HUMAN	c.1673A>G	p.Y558C	non-syn	rs200126905	-	-	lod=104:466	TOLERATED	B	-	hom	1
17	2	198571802	A	G	ENST00000282276	ENSG00000247626	198570087	198573113	ENSP00000282276	MARS2	1	SYMM_HUMAN	c.1673A>G	p.Y558C	non-syn	rs200126905	-	-	lod=104:466	TOLERATED	B	-	het	2
18	2	198571890	G	T	ENST00000282276	ENSG00000247626	198570087	198573113	ENSP00000282276	MARS2	1	SYMM_HUMAN	c.1761G>T	p.L587L	syn	rs149323484	0.00286	T=2/G=8598;T=1/G=4405;T=3/G=13003	-	-	-	-	het	1
19	2	198571904	G	A	ENST00000282276	ENSG00000247626	198570087	198573113	ENSP00000282276	MARS2	1	SYMM_HUMAN	c.1775G>A	p.R592Q	non-syn	NA	-	A=2/G=8598;A=0/G=4406;A=2/G=13004	lod=33:343	DAMAGING	B	-	het	1
20	2	198572037	T	C	ENST00000282276	ENSG00000247626	198570087	198573113	ENSP00000282276	MARS2	1	SYMM_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2

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Transcripts and variants in the surrounding MARS2 2:198570087..198573113 region Gbrowse