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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 GARS:

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
ENSG00000106105	GARS	1	0	26	ENSG00000106105	ENST00000389266	ENSP00000373918	glycyl-tRNA synthetase [Source:HGNC Symbol;Acc:4162]	7	30634297	30673649	1	p14.3	30634297	30673649	GARS	GARS-001	HGNC Symbol	HGNC transcript name	9	38.71	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	2617	4162	GARS	NM_002047	27506

MSeqDR Master Exome Data Set M1: 149 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	7	30634301	A	C	ENST00000389266	ENSG00000106105	30634297	30673649	ENSP00000373918	GARS	1	SYG_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
2	7	30634313	G	A	ENST00000389266	ENSG00000106105	30634297	30673649	ENSP00000373918	GARS	1	SYG_HUMAN	-	-	5'_UTR	rs148593022	0.0065	-	-	-	-	-	het	8
3	7	30634321	A	G	ENST00000389266	ENSG00000106105	30634297	30673649	ENSP00000373918	GARS	1	SYG_HUMAN	-	-	5'_UTR	rs2970504	0.0647	-	-	-	-	-	het	6
4	7	30634333	C	T	ENST00000389266	ENSG00000106105	30634297	30673649	ENSP00000373918	GARS	1	SYG_HUMAN	-	-	5'_UTR	rs17159262	0.0214	-	-	-	-	-	hom	1
5	7	30634333	C	T	ENST00000389266	ENSG00000106105	30634297	30673649	ENSP00000373918	GARS	1	SYG_HUMAN	-	-	5'_UTR	rs17159262	0.0214	-	-	-	-	-	het	30
6	7	30634361	T	C	ENST00000389266	ENSG00000106105	30634297	30673649	ENSP00000373918	GARS	1	SYG_HUMAN	-	-	5'_UTR	rs78980639	0.0101	-	-	-	-	-	het	1
7	7	30634442	C	G	ENST00000389266	ENSG00000106105	30634297	30673649	ENSP00000373918	GARS	1	SYG_HUMAN	-	-	5'_UTR	NA	-	-	lod=93:454	-	-	-	het	1
8	7	30634548	C	T	ENST00000389266	ENSG00000106105	30634297	30673649	ENSP00000373918	GARS	1	SYG_HUMAN	c.11C>T	p.P4L	non-syn	rs62636572	0.0262	T=113/C=8037;T=10/C=3978;T=123/C=12015	-	TOLERATED	NA	-	het	39
9	7	30634548	C	T	ENST00000454308	ENSG00000106105	30634297	30673649	ENSP00000392677	GARS	1	-	c.11C>T	p.P4L	non-syn	rs62636572	0.0262	T=113/C=8037;T=10/C=3978;T=123/C=12015	-	TOLERATED	NA	-	het	39
10	7	30634548	C	T	ENST00000478124	ENSG00000106105	30634297	30673649	-	GARS	1	-	c.49C>T	p.R17C	non-syn	rs62636572	0.0262	T=113/C=8037;T=10/C=3978;T=123/C=12015	-	TOLERATED	NA	-	het	39
11	7	30634630	G	C	ENST00000389266	ENSG00000106105	30634297	30673649	ENSP00000373918	GARS	1	SYG_HUMAN	c.93G>C	p.L31L	syn	rs2529438	0.1395	C=669/G=7413;C=360/G=3594;C=1029/G=11007	-	-	-	-	het	162
12	7	30634630	G	C	ENST00000389266	ENSG00000106105	30634297	30673649	ENSP00000373918	GARS	1	SYG_HUMAN	c.93G>C	p.L31L	syn	rs2529438	0.1395	C=669/G=7413;C=360/G=3594;C=1029/G=11007	-	-	-	-	hom	15
13	7	30634630	G	C	ENST00000454308	ENSG00000106105	30634297	30673649	ENSP00000392677	GARS	1	-	c.93G>C	p.L31L	syn	rs2529438	0.1395	C=669/G=7413;C=360/G=3594;C=1029/G=11007	-	-	-	-	het	162
14	7	30634630	G	C	ENST00000454308	ENSG00000106105	30634297	30673649	ENSP00000392677	GARS	1	-	c.93G>C	p.L31L	syn	rs2529438	0.1395	C=669/G=7413;C=360/G=3594;C=1029/G=11007	-	-	-	-	hom	15
15	7	30634630	G	C	ENST00000478124	ENSG00000106105	30634297	30673649	-	GARS	1	-	c.131G>C	p.C44S	non-syn	rs2529438	0.1395	C=669/G=7413;C=360/G=3594;C=1029/G=11007	-	-	-	-	het	162
16	7	30634630	G	C	ENST00000478124	ENSG00000106105	30634297	30673649	-	GARS	1	-	c.131G>C	p.C44S	non-syn	rs2529438	0.1395	C=669/G=7413;C=360/G=3594;C=1029/G=11007	-	-	-	-	hom	15
17	7	30634661	C	G	ENST00000389266	ENSG00000106105	30634297	30673649	ENSP00000373918	GARS	1	SYG_HUMAN	c.124C>G	p.P42A	non-syn	rs1049402	0.7276	G=6367/C=1671;G=2445/C=1427;G=8812/C=3098	-	TOLERATED	NA	-	hom	472
18	7	30634661	C	G	ENST00000389266	ENSG00000106105	30634297	30673649	ENSP00000373918	GARS	1	SYG_HUMAN	c.124C>G	p.P42A	non-syn	rs1049402	0.7276	G=6367/C=1671;G=2445/C=1427;G=8812/C=3098	-	TOLERATED	NA	-	het	229
19	7	30634661	C	G	ENST00000454308	ENSG00000106105	30634297	30673649	ENSP00000392677	GARS	1	-	c.124C>G	p.P42A	non-syn	rs1049402	0.7276	G=6367/C=1671;G=2445/C=1427;G=8812/C=3098	-	TOLERATED	NA	-	hom	472
20	7	30634661	C	G	ENST00000454308	ENSG00000106105	30634297	30673649	ENSP00000392677	GARS	1	-	c.124C>G	p.P42A	non-syn	rs1049402	0.7276	G=6367/C=1671;G=2445/C=1427;G=8812/C=3098	-	TOLERATED	NA	-	het	229

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Transcripts and variants in the surrounding GARS 7:30634297..30673649 region Gbrowse