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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 ENSG00000198689:

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
ENSG00000198689	SLC9A6	0	0	59	ENSG00000198689	ENST00000370701	ENSP00000359735	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6 [Source:HGNC Symbol;Acc:11079]	X	135067598	135129423	1	q26.3	135067598	135129298	SLC9A6	SLC9A6-003	HGNC Symbol	HGNC transcript name	3	40.15	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	10479	11079	SLC9A6	NM_001177651	27516

MSeqDR Master Exome Data Set M1: 176 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	X	135067680	C	G	ENST00000370695	ENSG00000198689	135067598	135129423	ENSP00000359729	SLC9A6	1	SL9A6_HUMAN	c.19C>G	p.R7G	non-syn	NA	-	-	-	DAMAGING	NA	-	het	1
2	X	135067680	C	G	ENST00000370698	ENSG00000198689	135067598	135129423	ENSP00000359732	SLC9A6	1	SL9A6_HUMAN	c.19C>G	p.R7G	non-syn	NA	-	-	-	DAMAGING	NA	-	het	1
3	X	135067686	G	T	ENST00000370695	ENSG00000198689	135067598	135129423	ENSP00000359729	SLC9A6	1	SL9A6_HUMAN	c.25G>T	p.A9S	non-syn	rs201523857	-	-	-	TOLERATED	NA	-	het	3
4	X	135067686	G	T	ENST00000370695	ENSG00000198689	135067598	135129423	ENSP00000359729	SLC9A6	1	SL9A6_HUMAN	c.25G>T	p.A9S	non-syn	rs201523857	-	-	-	TOLERATED	NA	-	hom	1
5	X	135067686	G	T	ENST00000370698	ENSG00000198689	135067598	135129423	ENSP00000359732	SLC9A6	1	SL9A6_HUMAN	c.25G>T	p.A9S	non-syn	rs201523857	-	-	-	TOLERATED	NA	-	het	3
6	X	135067686	G	T	ENST00000370698	ENSG00000198689	135067598	135129423	ENSP00000359732	SLC9A6	1	SL9A6_HUMAN	c.25G>T	p.A9S	non-syn	rs201523857	-	-	-	TOLERATED	NA	-	hom	1
7	X	135067687	C	G	ENST00000370695	ENSG00000198689	135067598	135129423	ENSP00000359729	SLC9A6	1	SL9A6_HUMAN	c.26C>G	p.A9G	non-syn	NA	-	-	-	TOLERATED	NA	-	het	1
8	X	135067687	C	G	ENST00000370698	ENSG00000198689	135067598	135129423	ENSP00000359732	SLC9A6	1	SL9A6_HUMAN	c.26C>G	p.A9G	non-syn	NA	-	-	-	TOLERATED	NA	-	het	1
9	X	135080623	C	+T	ENST00000370695	ENSG00000198689	135067598	135129423	ENSP00000359729	SLC9A6	1	SL9A6_HUMAN	-	-	-18bp 3'_splice_site	NA	-	-	-	-	-	-	het	853
10	X	135080623	C	+T	ENST00000370695	ENSG00000198689	135067598	135129423	ENSP00000359729	SLC9A6	1	SL9A6_HUMAN	-	-	-18bp 3'_splice_site	NA	-	-	-	-	-	-	hom	70
11	X	135080623	C	+T	ENST00000370698	ENSG00000198689	135067598	135129423	ENSP00000359732	SLC9A6	1	SL9A6_HUMAN	-	-	-18bp 3'_splice_site	NA	-	-	-	-	-	-	het	853
12	X	135080623	C	+T	ENST00000370698	ENSG00000198689	135067598	135129423	ENSP00000359732	SLC9A6	1	SL9A6_HUMAN	-	-	-18bp 3'_splice_site	NA	-	-	-	-	-	-	hom	70
13	X	135080623	C	+T	ENST00000370701	ENSG00000198689	135067598	135129423	ENSP00000359735	SLC9A6	1	SL9A6_HUMAN	-	-	-18bp 3'_splice_site	NA	-	-	-	-	-	-	het	853
14	X	135080623	C	+T	ENST00000370701	ENSG00000198689	135067598	135129423	ENSP00000359735	SLC9A6	1	SL9A6_HUMAN	-	-	-18bp 3'_splice_site	NA	-	-	-	-	-	-	hom	70
15	X	135080623	C	+TT	ENST00000370695	ENSG00000198689	135067598	135129423	ENSP00000359729	SLC9A6	1	SL9A6_HUMAN	-	-	-18bp 3'_splice_site	NA	-	-	-	-	-	-	het	46
16	X	135080623	C	+TT	ENST00000370698	ENSG00000198689	135067598	135129423	ENSP00000359732	SLC9A6	1	SL9A6_HUMAN	-	-	-18bp 3'_splice_site	NA	-	-	-	-	-	-	het	46
17	X	135080623	C	+TT	ENST00000370701	ENSG00000198689	135067598	135129423	ENSP00000359735	SLC9A6	1	SL9A6_HUMAN	-	-	-18bp 3'_splice_site	NA	-	-	-	-	-	-	het	46
18	X	135080667	T	C	ENST00000370695	ENSG00000198689	135067598	135129423	ENSP00000359729	SLC9A6	1	SL9A6_HUMAN	c.630T>C	p.S210S	syn	rs144316388	0.0239	C=1/T=6712;C=96/T=3739;C=97/T=10451	lod=377:603	-	-	-	het	1
19	X	135080667	T	C	ENST00000370698	ENSG00000198689	135067598	135129423	ENSP00000359732	SLC9A6	1	SL9A6_HUMAN	c.534T>C	p.S178S	syn	rs144316388	0.0239	C=1/T=6712;C=96/T=3739;C=97/T=10451	lod=377:603	-	-	-	het	1
20	X	135080667	T	C	ENST00000370701	ENSG00000198689	135067598	135129423	ENSP00000359735	SLC9A6	1	SL9A6_HUMAN	c.474T>C	p.S158S	syn	rs144316388	0.0239	C=1/T=6712;C=96/T=3739;C=97/T=10451	lod=377:603	-	-	-	het	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 SLC9A6 X:135067598..135129423 region Gbrowse