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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 KCNA5:

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
ENSG00000130037	KCNA5	0	0	19	ENSG00000130037	ENST00000252321	ENSP00000252321	potassium voltage-gated channel, shaker-related subfamily, member 5 [Source:HGNC Symbol;Acc:6224]	12	5153085	5155949	1	p13.32	5153085	5155949	KCNA5	KCNA5-001	HGNC Symbol	HGNC transcript name	1	58.57	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	3741	6224	KCNA5	NM_002234	27519

MSeqDR Master Exome Data Set M1: 39 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	12	5153147	C	T	ENST00000252321	ENSG00000130037	5153085	5155949	ENSP00000252321	KCNA5	1	KCNA5_HUMAN	-	-	5'_UTR	rs3741930	0.5554	-	lod=60:407	-	-	-	het	86
2	12	5153147	C	T	ENST00000252321	ENSG00000130037	5153085	5155949	ENSP00000252321	KCNA5	1	KCNA5_HUMAN	-	-	5'_UTR	rs3741930	0.5554	-	lod=60:407	-	-	-	hom	33
3	12	5153405	G	T	ENST00000252321	ENSG00000130037	5153085	5155949	ENSP00000252321	KCNA5	1	KCNA5_HUMAN	c.92G>T	p.G31V	non-syn	rs61737395	0.0255	T=3/G=7713;T=129/G=3721;T=132/G=11434	-	TOLERATED	B	-	het	6
4	12	5153493	G	A	ENST00000252321	ENSG00000130037	5153085	5155949	ENSP00000252321	KCNA5	1	KCNA5_HUMAN	c.180G>A	p.A60A	syn	NA	-	A=2/G=7628;A=0/G=3860;A=2/G=11488	-	-	-	-	het	2
5	12	5153530	C	T	ENST00000252321	ENSG00000130037	5153085	5155949	ENSP00000252321	KCNA5	1	KCNA5_HUMAN	c.217C>T	p.P73S	non-syn	rs71541953	-	-	-	TOLERATED	P	-	het	1
6	12	5153542	C	T	ENST00000252321	ENSG00000130037	5153085	5155949	ENSP00000252321	KCNA5	1	KCNA5_HUMAN	c.229C>T	p.P77S	non-syn	rs202083721	-	T=0/C=8088;T=1/C=4121;T=1/C=12209	-	TOLERATED	D	-	het	2
7	12	5153573	G	A	ENST00000252321	ENSG00000130037	5153085	5155949	ENSP00000252321	KCNA5	1	KCNA5_HUMAN	c.260G>A	p.R87Q	non-syn	rs71537801	-	A=5/G=8413;A=0/G=4312;A=5/G=12725	-	TOLERATED	B	Altered channel function, association with	het	1
8	12	5153694	C	T	ENST00000252321	ENSG00000130037	5153085	5155949	ENSP00000252321	KCNA5	1	KCNA5_HUMAN	c.381C>T	p.S127S	syn	rs45504599	0.0355	T=353/C=8243;T=46/C=4356;T=399/C=12599	lod=233:552	-	-	-	het	52
9	12	5153694	C	T	ENST00000252321	ENSG00000130037	5153085	5155949	ENSP00000252321	KCNA5	1	KCNA5_HUMAN	c.381C>T	p.S127S	syn	rs45504599	0.0355	T=353/C=8243;T=46/C=4356;T=399/C=12599	lod=233:552	-	-	-	hom	2
10	12	5153875	C	G	ENST00000252321	ENSG00000130037	5153085	5155949	ENSP00000252321	KCNA5	1	KCNA5_HUMAN	c.562C>G	p.P188A	non-syn	NA	-	-	lod=101:462	DAMAGING	D	-	het	1
11	12	5153883	C	T	ENST00000252321	ENSG00000130037	5153085	5155949	ENSP00000252321	KCNA5	1	KCNA5_HUMAN	c.570C>T	p.N190N	syn	rs12720444	-	T=53/C=8547;T=6/C=4400;T=59/C=12947	lod=57:401	-	-	-	het	4
12	12	5153928	G	C	ENST00000252321	ENSG00000130037	5153085	5155949	ENSP00000252321	KCNA5	1	KCNA5_HUMAN	c.615G>C	p.L205L	syn	rs12720443	0.0071	C=0/G=8600;C=69/G=4337;C=69/G=12937	lod=347:594	-	-	-	het	3
13	12	5153935	G	T	ENST00000252321	ENSG00000130037	5153085	5155949	ENSP00000252321	KCNA5	1	KCNA5_HUMAN	c.622G>T	p.E208*	non-syn	NA	-	-	lod=347:594	DAMAGING	NA	-	het	1
14	12	5153946	G	C	ENST00000252321	ENSG00000130037	5153085	5155949	ENSP00000252321	KCNA5	1	KCNA5_HUMAN	c.633G>C	p.E211D	non-syn	rs35853292	-	C=13/G=8587;C=2/G=4404;C=15/G=12991	lod=347:594	TOLERATED	B	-	het	2
15	12	5153947	C	T	ENST00000252321	ENSG00000130037	5153085	5155949	ENSP00000252321	KCNA5	1	KCNA5_HUMAN	c.634C>T	p.R212C	non-syn	rs77281462	0.0037	T=0/C=8600;T=15/C=4391;T=15/C=12991	lod=347:594	DAMAGING	D	-	het	3
16	12	5153998	C	T	ENST00000252321	ENSG00000130037	5153085	5155949	ENSP00000252321	KCNA5	1	KCNA5_HUMAN	c.685C>T	p.R229C	non-syn	NA	-	-	lod=181:525	DAMAGING	B	-	het	1
17	12	5154003	C	G	ENST00000252321	ENSG00000130037	5153085	5155949	ENSP00000252321	KCNA5	1	KCNA5_HUMAN	c.690C>G	p.N230K	non-syn	NA	-	-	lod=181:525	TOLERATED	B	-	het	1
18	12	5154040	C	G	ENST00000252321	ENSG00000130037	5153085	5155949	ENSP00000252321	KCNA5	1	KCNA5_HUMAN	c.727C>G	p.P243A	non-syn	NA	-	-	lod=86:445	DAMAGING	D	-	het	1
19	12	5154064	G	A	ENST00000252321	ENSG00000130037	5153085	5155949	ENSP00000252321	KCNA5	1	KCNA5_HUMAN	c.751G>A	p.A251T	non-syn	rs12720442	0.0184	A=109/G=8491;A=14/G=4392;A=123/G=12883	lod=73:428	TOLERATED	B	-	het	33
20	12	5154064	G	A	ENST00000252321	ENSG00000130037	5153085	5155949	ENSP00000252321	KCNA5	1	KCNA5_HUMAN	c.751G>A	p.A251T	non-syn	rs12720442	0.0184	A=109/G=8491;A=14/G=4392;A=123/G=12883	lod=73:428	TOLERATED	B	-	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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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding KCNA5 12:5153085..5155949 region Gbrowse