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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 MSH6:

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
ENSG00000116062	MSH6	0	0	1403	ENSG00000116062	ENST00000607272		mutS homolog 6 [Source:HGNC Symbol;Acc:7329]	2	47922669	48037240	1	p16.3	47922669	47936969	MSH6	MSH6-009	HGNC Symbol	HGNC transcript name	12	44.65	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	2956	7329	MSH6		27508

MSeqDR Master Exome Data Set M1: 262 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	48010365	C	T	ENST00000234420	ENSG00000116062	47922669	48037240	ENSP00000234420	MSH6	1	MSH6_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	hom	1
2	2	48010365	C	T	ENST00000445503	ENSG00000116062	47922669	48037240	ENSP00000405294	MSH6	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	hom	1
3	2	48010365	C	T	ENST00000456246	ENSG00000116062	47922669	48037240	ENSP00000410570	MSH6	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	hom	1
4	2	48010365	C	T	ENST00000493177	ENSG00000116062	47922669	48037240	-	MSH6	1	-	c.57C>T	p.G19G	syn	NA	-	-	-	-	-	-	hom	1
5	2	48010365	C	T	ENST00000540021	ENSG00000116062	47922669	48037240	ENSP00000446475	MSH6	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	hom	1
6	2	48010441	C	A	ENST00000234420	ENSG00000116062	47922669	48037240	ENSP00000234420	MSH6	1	MSH6_HUMAN	c.69C>A	p.A23A	syn	NA	-	-	-	-	-	-	het	2
7	2	48010441	C	A	ENST00000445503	ENSG00000116062	47922669	48037240	ENSP00000405294	MSH6	1	-	c.69C>A	p.A23A	syn	NA	-	-	-	-	-	-	het	2
8	2	48010441	C	A	ENST00000456246	ENSG00000116062	47922669	48037240	ENSP00000410570	MSH6	1	-	c.69C>A	p.A23A	syn	NA	-	-	-	-	-	-	het	2
9	2	48010441	C	A	ENST00000493177	ENSG00000116062	47922669	48037240	-	MSH6	1	-	c.133C>A	p.L45I	non-syn	NA	-	-	-	-	-	-	het	2
10	2	48010441	C	A	ENST00000540021	ENSG00000116062	47922669	48037240	ENSP00000446475	MSH6	1	-	c.69C>A	p.A23A	syn	NA	-	-	-	-	-	-	het	2
11	2	48010488	G	A	ENST00000234420	ENSG00000116062	47922669	48037240	ENSP00000234420	MSH6	1	MSH6_HUMAN	c.116G>A	p.G39E	non-syn	rs1042821	0.1617	A=1336/G=6412;A=758/G=3150;A=2094/G=9562	lod=28:325	TOLERATED	D	Colorectal cancer, assoc. with ?	het	281
12	2	48010488	G	A	ENST00000234420	ENSG00000116062	47922669	48037240	ENSP00000234420	MSH6	1	MSH6_HUMAN	c.116G>A	p.G39E	non-syn	rs1042821	0.1617	A=1336/G=6412;A=758/G=3150;A=2094/G=9562	lod=28:325	TOLERATED	D	Colorectal cancer, assoc. with ?	hom	48
13	2	48010488	G	A	ENST00000445503	ENSG00000116062	47922669	48037240	ENSP00000405294	MSH6	1	-	c.116G>A	p.G39E	non-syn	rs1042821	0.1617	A=1336/G=6412;A=758/G=3150;A=2094/G=9562	lod=28:325	TOLERATED	D	Colorectal cancer, assoc. with ?	het	281
14	2	48010488	G	A	ENST00000445503	ENSG00000116062	47922669	48037240	ENSP00000405294	MSH6	1	-	c.116G>A	p.G39E	non-syn	rs1042821	0.1617	A=1336/G=6412;A=758/G=3150;A=2094/G=9562	lod=28:325	TOLERATED	D	Colorectal cancer, assoc. with ?	hom	48
15	2	48010488	G	A	ENST00000456246	ENSG00000116062	47922669	48037240	ENSP00000410570	MSH6	1	-	c.116G>A	p.G39E	non-syn	rs1042821	0.1617	A=1336/G=6412;A=758/G=3150;A=2094/G=9562	lod=28:325	TOLERATED	D	Colorectal cancer, assoc. with ?	het	281
16	2	48010488	G	A	ENST00000456246	ENSG00000116062	47922669	48037240	ENSP00000410570	MSH6	1	-	c.116G>A	p.G39E	non-syn	rs1042821	0.1617	A=1336/G=6412;A=758/G=3150;A=2094/G=9562	lod=28:325	TOLERATED	D	Colorectal cancer, assoc. with ?	hom	48
17	2	48010488	G	A	ENST00000493177	ENSG00000116062	47922669	48037240	-	MSH6	1	-	c.180G>A	p.R60R	syn	rs1042821	0.1617	A=1336/G=6412;A=758/G=3150;A=2094/G=9562	lod=28:325	TOLERATED	D	Colorectal cancer, assoc. with ?	het	281
18	2	48010488	G	A	ENST00000493177	ENSG00000116062	47922669	48037240	-	MSH6	1	-	c.180G>A	p.R60R	syn	rs1042821	0.1617	A=1336/G=6412;A=758/G=3150;A=2094/G=9562	lod=28:325	TOLERATED	D	Colorectal cancer, assoc. with ?	hom	48
19	2	48010488	G	A	ENST00000540021	ENSG00000116062	47922669	48037240	ENSP00000446475	MSH6	1	-	c.116G>A	p.G39E	non-syn	rs1042821	0.1617	A=1336/G=6412;A=758/G=3150;A=2094/G=9562	lod=28:325	TOLERATED	D	Colorectal cancer, assoc. with ?	het	281
20	2	48010488	G	A	ENST00000540021	ENSG00000116062	47922669	48037240	ENSP00000446475	MSH6	1	-	c.116G>A	p.G39E	non-syn	rs1042821	0.1617	A=1336/G=6412;A=758/G=3150;A=2094/G=9562	lod=28:325	TOLERATED	D	Colorectal cancer, assoc. with ?	hom	48

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Transcripts and variants in the surrounding MSH6 2:47922669..48037240 region Gbrowse