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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 KCNQ1:

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
ENSG00000053918	KCNQ1	1	3	512	ENSG00000053918	ENST00000496887	ENSP00000434560	potassium voltage-gated channel, KQT-like subfamily, member 1 [Source:HGNC Symbol;Acc:6294]	11	2465914	2870339	1	p15.5	2465914	2594136	KCNQ1	KCNQ1-005	HGNC Symbol	HGNC transcript name	6	51.55	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	PUTATIVE	3784	6294	KCNQ1		27504

MSeqDR Master Exome Data Set M1: 145 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	11	2466464	G	A	ENST00000155840	ENSG00000053918	2465914	2870339	ENSP00000155840	KCNQ1	1	KCNQ1_HUMAN	c.136G>A	p.A46T	non-syn	rs199473671	-	-	lod=87:446	TOLERATED	B	HGMD	het	3
2	11	2466480	A	+CGCGCCCAT	ENST00000155840	ENSG00000053918	2465914	2870339	ENSP00000155840	KCNQ1	1	KCNQ1_HUMAN	c.152_153insCGCGCCCAT	p.Y51NA	non-syn	NA	-	-	lod=87:446	-	-	-	het	3
3	11	2466515	C	T	ENST00000155840	ENSG00000053918	2465914	2870339	ENSP00000155840	KCNQ1	1	KCNQ1_HUMAN	c.187C>T	p.P63S	non-syn	NA	-	-	-	TOLERATED	B	-	het	4
4	11	2466515	C	T	ENST00000155840	ENSG00000053918	2465914	2870339	ENSP00000155840	KCNQ1	1	KCNQ1_HUMAN	c.187C>T	p.P63S	non-syn	NA	-	-	-	TOLERATED	B	-	hom	1
5	11	2466535	G	T	ENST00000155840	ENSG00000053918	2465914	2870339	ENSP00000155840	KCNQ1	1	KCNQ1_HUMAN	c.207G>T	p.A69A	syn	NA	-	-	lod=13:243	-	-	-	het	4
6	11	2466568	C	T	ENST00000155840	ENSG00000053918	2465914	2870339	ENSP00000155840	KCNQ1	1	KCNQ1_HUMAN	c.240C>T	p.G80G	syn	NA	-	-	lod=16:265	-	-	-	het	1
7	11	2466568	C	T	ENST00000345015	ENSG00000053918	2465914	2870339	-	KCNQ1	1	-	c.17C>T	p.A6V	non-syn	NA	-	-	lod=16:265	-	-	-	het	1
8	11	2466656	G	A	ENST00000155840	ENSG00000053918	2465914	2870339	ENSP00000155840	KCNQ1	1	KCNQ1_HUMAN	c.328G>A	p.V110I	non-syn	rs199472677	-	A=2/G=8502;A=0/G=4342;A=2/G=12844	lod=498:633	TOLERATED	B	-	het	1
9	11	2466656	G	A	ENST00000345015	ENSG00000053918	2465914	2870339	-	KCNQ1	1	-	c.105G>A	p.A35A	syn	rs199472677	-	A=2/G=8502;A=0/G=4342;A=2/G=12844	lod=498:633	TOLERATED	B	-	het	1
10	11	2466656	G	A	ENST00000496887	ENSG00000053918	2465914	2870339	ENSP00000434560	KCNQ1	1	-	c.67G>A	p.V23I	non-syn	rs199472677	-	A=2/G=8502;A=0/G=4342;A=2/G=12844	lod=498:633	TOLERATED	B	-	het	1
11	11	2482956	G	A	ENST00000335475	ENSG00000053918	2465914	2870339	ENSP00000334497	KCNQ1	1	KCNQ1_HUMAN	-	-	+12bp 5'_splice_site	rs116103203	0.0049	A=0/G=8598;A=24/G=4380;A=24/G=12978	-	-	-	-	het	1
12	11	2542735	G	A	ENST00000345015	ENSG00000053918	2465914	2870339	-	KCNQ1	1	-	c.190G>A	p.E64K	non-syn	rs186544414	0.0011	-	-	-	-	-	het	1
13	11	2542735	G	A	ENST00000380776	ENSG00000053918	2465914	2870339	ENSP00000370153	KCNQ1	1	-	c.111G>A	p.T37T	syn	rs186544414	0.0011	-	-	-	-	-	het	1
14	11	2542757	C	T	ENST00000345015	ENSG00000053918	2465914	2870339	-	KCNQ1	1	-	c.212C>T	p.T71M	non-syn	rs80269976	0.0043	-	-	-	-	-	het	4
15	11	2542757	C	T	ENST00000380776	ENSG00000053918	2465914	2870339	ENSP00000370153	KCNQ1	1	-	c.133C>T	p.R45C	non-syn	rs80269976	0.0043	-	-	-	-	-	het	4
16	11	2542793	G	A	ENST00000345015	ENSG00000053918	2465914	2870339	-	KCNQ1	1	-	c.248G>A	p.R83Q	non-syn	rs10400212	0.0061	-	-	-	-	-	het	2
17	11	2542793	G	A	ENST00000380776	ENSG00000053918	2465914	2870339	ENSP00000370153	KCNQ1	1	-	c.169G>A	p.D57N	non-syn	rs10400212	0.0061	-	-	-	-	-	het	2
18	11	2542800	G	A	ENST00000345015	ENSG00000053918	2465914	2870339	-	KCNQ1	1	-	c.255G>A	p.W85*	non-syn	NA	-	-	-	-	-	-	het	2
19	11	2542800	G	A	ENST00000380776	ENSG00000053918	2465914	2870339	ENSP00000370153	KCNQ1	1	-	c.176G>A	p.G59D	non-syn	NA	-	-	-	-	-	-	het	2
20	11	2549218	C	T	ENST00000155840	ENSG00000053918	2465914	2870339	ENSP00000155840	KCNQ1	1	KCNQ1_HUMAN	c.447C>T	p.A149A	syn	rs146436765	0.0031	T=0/C=8598;T=17/C=4387;T=17/C=12985	lod=249:559	-	-	-	het	4

** 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 KCNQ1 11:2465914..2870339 region Gbrowse