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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 CHST6:

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
ENSG00000183196	CHST6	0	0	8	ENSG00000183196	ENST00000332272	ENSP00000328983	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 [Source:HGNC Symbol;Acc:6938]	16	75510949	75529282	-1	q23.1	75510949	75528926	CHST6	CHST6-003	HGNC Symbol	HGNC transcript name	2	50.4	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	4166	6938	CHST6	NM_021615	27514

MSeqDR Master Exome Data Set M1: 38 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	16	75512162	C	T	ENST00000332272	ENSG00000183196	75510949	75529282	ENSP00000328983	CHST6	-1	CHST6_HUMAN	-	-	3'_UTR	rs138647317	0.054	-	-	-	-	-	het	2
2	16	75512209	G	A	ENST00000332272	ENSG00000183196	75510949	75529282	ENSP00000328983	CHST6	-1	CHST6_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
3	16	75512296	G	+C	ENST00000332272	ENSG00000183196	75510949	75529282	ENSP00000328983	CHST6	-1	CHST6_HUMAN	-	-	3'_UTR	rs11436257	-	-	-	-	-	-	het	299
4	16	75512296	G	+C	ENST00000332272	ENSG00000183196	75510949	75529282	ENSP00000328983	CHST6	-1	CHST6_HUMAN	-	-	3'_UTR	rs11436257	-	-	-	-	-	-	hom	264
5	16	75512449	T	C	ENST00000332272	ENSG00000183196	75510949	75529282	ENSP00000328983	CHST6	-1	CHST6_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
6	16	75512449	T	C	ENST00000390664	ENSG00000183196	75510949	75529282	ENSP00000375079	CHST6	-1	CHST6_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
7	16	75512645	A	G	ENST00000332272	ENSG00000183196	75510949	75529282	ENSP00000328983	CHST6	-1	CHST6_HUMAN	c.1082T>C	p.V361A	non-syn	rs150880663	-	G=1/A=8599;G=0/A=4396;G=1/A=12995	lod=22:300	DAMAGING	P	-	het	2
8	16	75512645	A	G	ENST00000390664	ENSG00000183196	75510949	75529282	ENSP00000375079	CHST6	-1	CHST6_HUMAN	c.1082T>C	p.V361A	non-syn	rs150880663	-	G=1/A=8599;G=0/A=4396;G=1/A=12995	lod=22:300	DAMAGING	P	-	het	2
9	16	75512734	C	A	ENST00000332272	ENSG00000183196	75510949	75529282	ENSP00000328983	CHST6	-1	CHST6_HUMAN	c.993G>T	p.Q331H	non-syn	rs140699573	-	A=15/C=8585;A=1/C=4395;A=16/C=12980	lod=224:548	DAMAGING	D	HGMD	het	10
10	16	75512734	C	A	ENST00000390664	ENSG00000183196	75510949	75529282	ENSP00000375079	CHST6	-1	CHST6_HUMAN	c.993G>T	p.Q331H	non-syn	rs140699573	-	A=15/C=8585;A=1/C=4395;A=16/C=12980	lod=224:548	DAMAGING	D	HGMD	het	10
11	16	75512899	C	T	ENST00000332272	ENSG00000183196	75510949	75529282	ENSP00000328983	CHST6	-1	CHST6_HUMAN	c.828G>A	p.L276L	syn	rs140327212	-	T=10/C=8564;T=4/C=4382;T=14/C=12946	lod=191:531	-	-	-	het	2
12	16	75512899	C	T	ENST00000390664	ENSG00000183196	75510949	75529282	ENSP00000375079	CHST6	-1	CHST6_HUMAN	c.828G>A	p.L276L	syn	rs140327212	-	T=10/C=8564;T=4/C=4382;T=14/C=12946	lod=191:531	-	-	-	het	2
13	16	75512959	G	A	ENST00000332272	ENSG00000183196	75510949	75529282	ENSP00000328983	CHST6	-1	CHST6_HUMAN	c.768C>T	p.A256A	syn	rs146465655	0.0045	A=104/G=8484;A=11/G=4377;A=115/G=12861	lod=22:300	-	-	-	het	14
14	16	75512959	G	A	ENST00000390664	ENSG00000183196	75510949	75529282	ENSP00000375079	CHST6	-1	CHST6_HUMAN	c.768C>T	p.A256A	syn	rs146465655	0.0045	A=104/G=8484;A=11/G=4377;A=115/G=12861	lod=22:300	-	-	-	het	14
15	16	75513020	T	A	ENST00000332272	ENSG00000183196	75510949	75529282	ENSP00000328983	CHST6	-1	CHST6_HUMAN	c.707A>T	p.D236V	non-syn	NA	-	-	lod=171:519	DAMAGING	D	-	het	2
16	16	75513020	T	A	ENST00000390664	ENSG00000183196	75510949	75529282	ENSP00000375079	CHST6	-1	CHST6_HUMAN	c.707A>T	p.D236V	non-syn	NA	-	-	lod=171:519	DAMAGING	D	-	het	2
17	16	75513071	G	A	ENST00000332272	ENSG00000183196	75510949	75529282	ENSP00000328983	CHST6	-1	CHST6_HUMAN	c.656C>T	p.A219V	non-syn	rs201743866	-	A=3/G=8565;A=0/G=4390;A=3/G=12955	lod=44:374	TOLERATED	B	-	het	2
18	16	75513071	G	A	ENST00000390664	ENSG00000183196	75510949	75529282	ENSP00000375079	CHST6	-1	CHST6_HUMAN	c.656C>T	p.A219V	non-syn	rs201743866	-	A=3/G=8565;A=0/G=4390;A=3/G=12955	lod=44:374	TOLERATED	B	-	het	2
19	16	75513243	G	C	ENST00000332272	ENSG00000183196	75510949	75529282	ENSP00000328983	CHST6	-1	CHST6_HUMAN	c.484C>G	p.R162G	non-syn	rs117435647	-	C=454/G=8136;C=48/G=4340;C=502/G=12476	lod=382:605	DAMAGING	B	HGMD	het	52
20	16	75513243	G	C	ENST00000332272	ENSG00000183196	75510949	75529282	ENSP00000328983	CHST6	-1	CHST6_HUMAN	c.484C>G	p.R162G	non-syn	rs117435647	-	C=454/G=8136;C=48/G=4340;C=502/G=12476	lod=382:605	DAMAGING	B	HGMD	hom	1

** 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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Transcripts and variants in the surrounding CHST6 16:75510949..75529282 region Gbrowse