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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 SLC12A1:

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
ENSG00000074803	SLC12A1	0	0	14	ENSG00000074803	ENST00000561127	ENSP00000453602	solute carrier family 12 (sodium/potassium/chloride transporter), member 1 [Source:HGNC Symbol;Acc:10910]	15	48483861	48596275	1	q21.1	48483861	48522627	SLC12A1	SLC12A1-009	HGNC Symbol	HGNC transcript name	11	38.11	protein_coding	nonsense_mediated_decay	ensembl_hava	havana	KNOWN	KNOWN	6557	10910	SLC12A1		27521

MSeqDR Master Exome Data Set M1: 349 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	15	48499781	A	G	ENST00000330289	ENSG00000074803	48483861	48596275	ENSP00000331550	SLC12A1	1	-	-	-	5'_UTR	rs35787656	0.1014	-	lod=30:333	-	-	-	het	3
2	15	48499781	A	G	ENST00000380993	ENSG00000074803	48483861	48596275	ENSP00000370381	SLC12A1	1	S12A1_HUMAN	-	-	5'_UTR	rs35787656	0.1014	-	lod=30:333	-	-	-	het	3
3	15	48499781	A	G	ENST00000396577	ENSG00000074803	48483861	48596275	ENSP00000379822	SLC12A1	1	-	-	-	5'_UTR	rs35787656	0.1014	-	lod=30:333	-	-	-	het	3
4	15	48499849	G	T	ENST00000330289	ENSG00000074803	48483861	48596275	ENSP00000331550	SLC12A1	1	-	-	-	5'_UTR	rs146990469	0.0034	-	-	-	-	-	het	2
5	15	48499849	G	T	ENST00000380993	ENSG00000074803	48483861	48596275	ENSP00000370381	SLC12A1	1	S12A1_HUMAN	-	-	5'_UTR	rs146990469	0.0034	-	-	-	-	-	het	2
6	15	48499849	G	T	ENST00000396577	ENSG00000074803	48483861	48596275	ENSP00000379822	SLC12A1	1	-	-	-	5'_UTR	rs146990469	0.0034	-	-	-	-	-	het	2
7	15	48500263	G	A	ENST00000330289	ENSG00000074803	48483861	48596275	ENSP00000331550	SLC12A1	1	-	c.347G>A	p.R116H	non-syn	rs34819316	-	A=47/G=8547;A=5/G=4391;A=52/G=12938	lod=94:455	TOLERATED	-	-	het	9
8	15	48500263	G	A	ENST00000380993	ENSG00000074803	48483861	48596275	ENSP00000370381	SLC12A1	1	S12A1_HUMAN	c.347G>A	p.R116H	non-syn	rs34819316	-	A=47/G=8547;A=5/G=4391;A=52/G=12938	lod=94:455	TOLERATED	-	-	het	9
9	15	48500263	G	A	ENST00000396577	ENSG00000074803	48483861	48596275	ENSP00000379822	SLC12A1	1	-	c.347G>A	p.R116H	non-syn	rs34819316	-	A=47/G=8547;A=5/G=4391;A=52/G=12938	lod=94:455	TOLERATED	-	-	het	9
10	15	48500263	G	A	ENST00000558405	ENSG00000074803	48483861	48596275	ENSP00000453409	SLC12A1	1	S12A1_HUMAN	c.347G>A	p.R116H	non-syn	rs34819316	-	A=47/G=8547;A=5/G=4391;A=52/G=12938	lod=94:455	TOLERATED	-	-	het	9
11	15	48500263	G	A	ENST00000561031	ENSG00000074803	48483861	48596275	ENSP00000454178	SLC12A1	1	-	c.347G>A	p.R116H	non-syn	rs34819316	-	A=47/G=8547;A=5/G=4391;A=52/G=12938	lod=94:455	TOLERATED	-	-	het	9
12	15	48512907	A	G	ENST00000330289	ENSG00000074803	48483861	48596275	ENSP00000331550	SLC12A1	1	-	c.497A>G	p.N166S	non-syn	rs142360465	-	G=4/A=8590;G=0/A=4396;G=4/A=12986	lod=18:278	TOLERATED	-	-	het	1
13	15	48512907	A	G	ENST00000380993	ENSG00000074803	48483861	48596275	ENSP00000370381	SLC12A1	1	S12A1_HUMAN	c.497A>G	p.N166S	non-syn	rs142360465	-	G=4/A=8590;G=0/A=4396;G=4/A=12986	lod=18:278	TOLERATED	-	-	het	1
14	15	48512907	A	G	ENST00000396577	ENSG00000074803	48483861	48596275	ENSP00000379822	SLC12A1	1	-	c.497A>G	p.N166S	non-syn	rs142360465	-	G=4/A=8590;G=0/A=4396;G=4/A=12986	lod=18:278	TOLERATED	-	-	het	1
15	15	48512907	A	G	ENST00000558405	ENSG00000074803	48483861	48596275	ENSP00000453409	SLC12A1	1	S12A1_HUMAN	c.497A>G	p.N166S	non-syn	rs142360465	-	G=4/A=8590;G=0/A=4396;G=4/A=12986	lod=18:278	TOLERATED	-	-	het	1
16	15	48512907	A	G	ENST00000559641	ENSG00000074803	48483861	48596275	ENSP00000453230	SLC12A1	1	-	-	-	5'_UTR	rs142360465	-	G=4/A=8590;G=0/A=4396;G=4/A=12986	lod=18:278	TOLERATED	-	-	het	1
17	15	48512907	A	G	ENST00000561031	ENSG00000074803	48483861	48596275	ENSP00000454178	SLC12A1	1	-	c.497A>G	p.N166S	non-syn	rs142360465	-	G=4/A=8590;G=0/A=4396;G=4/A=12986	lod=18:278	TOLERATED	-	-	het	1
18	15	48512907	A	G	ENST00000561127	ENSG00000074803	48483861	48596275	ENSP00000453602	SLC12A1	1	-	c.267A>G	p.K89K	syn	rs142360465	-	G=4/A=8590;G=0/A=4396;G=4/A=12986	lod=18:278	TOLERATED	-	-	het	1
19	15	48512978	T	A	ENST00000330289	ENSG00000074803	48483861	48596275	ENSP00000331550	SLC12A1	1	-	-	-	+16bp 5'_splice_site	rs201603044	-	-	-	-	-	-	het	1
20	15	48512978	T	A	ENST00000380993	ENSG00000074803	48483861	48596275	ENSP00000370381	SLC12A1	1	S12A1_HUMAN	-	-	+16bp 5'_splice_site	rs201603044	-	-	-	-	-	-	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 SLC12A1 15:48483861..48596275 region Gbrowse