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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 SLC5A2:

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
ENSG00000140675	SLC5A2	0	0	4	ENSG00000140675	ENST00000569576	ENSP00000455143	solute carrier family 5 (sodium/glucose cotransporter), member 2 [Source:HGNC Symbol;Acc:11037]	16	31494323	31502181	1	p11.2	31494323	31497597	SLC5A2	SLC5A2-005	HGNC Symbol	HGNC transcript name	9	59.32	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	PUTATIVE	6524	11037	SLC5A2		27514

MSeqDR Master Exome Data Set M1: 102 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	31494330	T	G	ENST00000569576	ENSG00000140675	31494323	31502181	ENSP00000455143	SLC5A2	1	-	-	-	5'_UTR	NA	-	-	lod=65:415	-	-	-	het	1
2	16	31494509	G	C	ENST00000330498	ENSG00000140675	31494323	31502181	ENSP00000327943	SLC5A2	1	SC5A2_HUMAN	c.52G>C	p.A18P	non-syn	rs140617924	-	C=1/G=8599;C=0/G=4394;C=1/G=12993	-	TOLERATED	B	-	het	1
3	16	31494509	G	C	ENST00000419665	ENSG00000140675	31494323	31502181	ENSP00000410601	SLC5A2	1	-	c.52G>C	p.A18P	non-syn	rs140617924	-	C=1/G=8599;C=0/G=4394;C=1/G=12993	-	TOLERATED	B	-	het	1
4	16	31494509	G	C	ENST00000562006	ENSG00000140675	31494323	31502181	-	SLC5A2	1	-	c.51G>C	p.R17S	non-syn	rs140617924	-	C=1/G=8599;C=0/G=4394;C=1/G=12993	-	TOLERATED	B	-	het	1
5	16	31494517	T	C	ENST00000330498	ENSG00000140675	31494323	31502181	ENSP00000327943	SLC5A2	1	SC5A2_HUMAN	c.60T>C	p.I20I	syn	rs114050461	0.0164	C=0/T=8600;C=102/T=4292;C=102/T=12892	lod=66:417	-	-	-	het	1
6	16	31494517	T	C	ENST00000419665	ENSG00000140675	31494323	31502181	ENSP00000410601	SLC5A2	1	-	c.60T>C	p.I20I	syn	rs114050461	0.0164	C=0/T=8600;C=102/T=4292;C=102/T=12892	lod=66:417	-	-	-	het	1
7	16	31494517	T	C	ENST00000562006	ENSG00000140675	31494323	31502181	-	SLC5A2	1	-	c.59T>C	p.L20S	non-syn	rs114050461	0.0164	C=0/T=8600;C=102/T=4292;C=102/T=12892	lod=66:417	-	-	-	het	1
8	16	31496088	C	T	ENST00000565446	ENSG00000140675	31494323	31502181	-	SLC5A2	1	-	c.21C>T	p.N7N	syn	rs200474781	-	-	-	-	-	-	het	1
9	16	31497153	G	A	ENST00000330498	ENSG00000140675	31494323	31502181	ENSP00000327943	SLC5A2	1	SC5A2_HUMAN	c.407G>A	p.R136H	non-syn	NA	-	-	-	TOLERATED	B	-	het	1
10	16	31497153	G	A	ENST00000419665	ENSG00000140675	31494323	31502181	ENSP00000410601	SLC5A2	1	-	c.407G>A	p.R136H	non-syn	NA	-	-	-	TOLERATED	B	-	het	1
11	16	31497153	G	A	ENST00000565446	ENSG00000140675	31494323	31502181	-	SLC5A2	1	-	c.281G>A	p.R94H	non-syn	NA	-	-	-	TOLERATED	B	-	het	1
12	16	31497153	G	A	ENST00000569576	ENSG00000140675	31494323	31502181	ENSP00000455143	SLC5A2	1	-	c.278G>A	p.R93H	non-syn	NA	-	-	-	TOLERATED	B	-	het	1
13	16	31497553	C	T	ENST00000330498	ENSG00000140675	31494323	31502181	ENSP00000327943	SLC5A2	1	SC5A2_HUMAN	c.531C>T	p.S177S	syn	NA	-	T=1/C=8599;T=0/C=4394;T=1/C=12993	lod=114:475	-	-	-	het	2
14	16	31497553	C	T	ENST00000419665	ENSG00000140675	31494323	31502181	ENSP00000410601	SLC5A2	1	-	c.531C>T	p.S177S	syn	NA	-	T=1/C=8599;T=0/C=4394;T=1/C=12993	lod=114:475	-	-	-	het	2
15	16	31497553	C	T	ENST00000565446	ENSG00000140675	31494323	31502181	-	SLC5A2	1	-	c.405C>T	p.S135S	syn	NA	-	T=1/C=8599;T=0/C=4394;T=1/C=12993	lod=114:475	-	-	-	het	2
16	16	31497553	C	T	ENST00000569576	ENSG00000140675	31494323	31502181	ENSP00000455143	SLC5A2	1	-	c.402C>T	p.S134S	syn	NA	-	T=1/C=8599;T=0/C=4394;T=1/C=12993	lod=114:475	-	-	-	het	2
17	16	31497590	G	A	ENST00000330498	ENSG00000140675	31494323	31502181	ENSP00000327943	SLC5A2	1	SC5A2_HUMAN	c.568G>A	p.V190M	non-syn	rs138803748	-	A=7/G=8593;A=0/G=4394;A=7/G=12987	lod=67:419	DAMAGING	D	-	het	1
18	16	31497590	G	A	ENST00000419665	ENSG00000140675	31494323	31502181	ENSP00000410601	SLC5A2	1	-	c.568G>A	p.V190M	non-syn	rs138803748	-	A=7/G=8593;A=0/G=4394;A=7/G=12987	lod=67:419	DAMAGING	D	-	het	1
19	16	31497590	G	A	ENST00000565446	ENSG00000140675	31494323	31502181	-	SLC5A2	1	-	c.442G>A	p.V148M	non-syn	rs138803748	-	A=7/G=8593;A=0/G=4394;A=7/G=12987	lod=67:419	DAMAGING	D	-	het	1
20	16	31497590	G	A	ENST00000569576	ENSG00000140675	31494323	31502181	ENSP00000455143	SLC5A2	1	-	c.439G>A	p.V147M	non-syn	rs138803748	-	A=7/G=8593;A=0/G=4394;A=7/G=12987	lod=67:419	DAMAGING	D	-	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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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding SLC5A2 16:31494323..31502181 region Gbrowse