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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 KCNH1:

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
ENSG00000143473	KCNH1	0	0	9	ENSG00000143473	ENST00000271751	ENSP00000271751	potassium voltage-gated channel, subfamily H (eag-related), member 1 [Source:HGNC Symbol;Acc:6250]	1	210856555	211307457	-1	q32.2	210856555	211307315	KCNH1	KCNH1-001	HGNC Symbol	HGNC transcript name	2	41	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	3756	6250	KCNH1		27511

MSeqDR Master Exome Data Set M1: 74 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	1	210856576	G	A	ENST00000271751	ENSG00000143473	210856555	211307457	ENSP00000271751	KCNH1	-1	KCNH1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
2	1	210856585	G	T	ENST00000271751	ENSG00000143473	210856555	211307457	ENSP00000271751	KCNH1	-1	KCNH1_HUMAN	-	-	3'_UTR	rs3135473	0.67596	T=6069/G=2517;T=3773/G=621;T=9842/G=3138	-	-	-	-	het	337
3	1	210856585	G	T	ENST00000271751	ENSG00000143473	210856555	211307457	ENSP00000271751	KCNH1	-1	KCNH1_HUMAN	-	-	3'_UTR	rs3135473	0.67596	T=6069/G=2517;T=3773/G=621;T=9842/G=3138	-	-	-	-	hom	517
4	1	210856585	G	T	ENST00000367007	ENSG00000143473	210856555	211307457	ENSP00000355974	KCNH1	-1	KCNH1_HUMAN	-	-	3'_UTR	rs3135473	0.67596	T=6069/G=2517;T=3773/G=621;T=9842/G=3138	-	-	-	-	het	337
5	1	210856585	G	T	ENST00000367007	ENSG00000143473	210856555	211307457	ENSP00000355974	KCNH1	-1	KCNH1_HUMAN	-	-	3'_UTR	rs3135473	0.67596	T=6069/G=2517;T=3773/G=621;T=9842/G=3138	-	-	-	-	hom	517
6	1	210856587	G	T	ENST00000271751	ENSG00000143473	210856555	211307457	ENSP00000271751	KCNH1	-1	KCNH1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
7	1	210856587	G	T	ENST00000367007	ENSG00000143473	210856555	211307457	ENSP00000355974	KCNH1	-1	KCNH1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
8	1	210856604	T	G	ENST00000271751	ENSG00000143473	210856555	211307457	ENSP00000271751	KCNH1	-1	KCNH1_HUMAN	-	-	3'_UTR	rs34689382	0.05077	G=547/T=8053;G=58/T=4346;G=605/T=12399	-	-	-	-	hom	10
9	1	210856604	T	G	ENST00000271751	ENSG00000143473	210856555	211307457	ENSP00000271751	KCNH1	-1	KCNH1_HUMAN	-	-	3'_UTR	rs34689382	0.05077	G=547/T=8053;G=58/T=4346;G=605/T=12399	-	-	-	-	het	86
10	1	210856604	T	G	ENST00000367007	ENSG00000143473	210856555	211307457	ENSP00000355974	KCNH1	-1	KCNH1_HUMAN	-	-	3'_UTR	rs34689382	0.05077	G=547/T=8053;G=58/T=4346;G=605/T=12399	-	-	-	-	hom	10
11	1	210856604	T	G	ENST00000367007	ENSG00000143473	210856555	211307457	ENSP00000355974	KCNH1	-1	KCNH1_HUMAN	-	-	3'_UTR	rs34689382	0.05077	G=547/T=8053;G=58/T=4346;G=605/T=12399	-	-	-	-	het	86
12	1	210856818	T	A	ENST00000271751	ENSG00000143473	210856555	211307457	ENSP00000271751	KCNH1	-1	KCNH1_HUMAN	c.2775A>T	p.T925T	syn	rs114571785	0.01586	A=175/T=8425;A=15/T=4391;A=190/T=12816	lod=121:482	-	-	-	het	52
13	1	210856818	T	A	ENST00000367007	ENSG00000143473	210856555	211307457	ENSP00000355974	KCNH1	-1	KCNH1_HUMAN	c.2694A>T	p.T898T	syn	rs114571785	0.01586	A=175/T=8425;A=15/T=4391;A=190/T=12816	lod=121:482	-	-	-	het	52
14	1	210856830	C	T	ENST00000271751	ENSG00000143473	210856555	211307457	ENSP00000271751	KCNH1	-1	KCNH1_HUMAN	c.2763G>A	p.T921T	syn	NA	-	-	lod=121:482	-	-	-	het	1
15	1	210856830	C	T	ENST00000367007	ENSG00000143473	210856555	211307457	ENSP00000355974	KCNH1	-1	KCNH1_HUMAN	c.2682G>A	p.T894T	syn	NA	-	-	lod=121:482	-	-	-	het	1
16	1	210856989	C	T	ENST00000271751	ENSG00000143473	210856555	211307457	ENSP00000271751	KCNH1	-1	KCNH1_HUMAN	c.2604G>A	p.A868A	syn	rs1135318	0.00299	T=20/C=8580;T=3/C=4403;T=23/C=12983	lod=22:300	-	-	-	het	7
17	1	210856989	C	T	ENST00000367007	ENSG00000143473	210856555	211307457	ENSP00000355974	KCNH1	-1	KCNH1_HUMAN	c.2523G>A	p.A841A	syn	rs1135318	0.00299	T=20/C=8580;T=3/C=4403;T=23/C=12983	lod=22:300	-	-	-	het	7
18	1	210857111	C	T	ENST00000271751	ENSG00000143473	210856555	211307457	ENSP00000271751	KCNH1	-1	KCNH1_HUMAN	c.2482G>A	p.G828R	non-syn	NA	-	-	-	-	B	-	het	1
19	1	210857111	C	T	ENST00000367007	ENSG00000143473	210856555	211307457	ENSP00000355974	KCNH1	-1	KCNH1_HUMAN	c.2401G>A	p.G801R	non-syn	NA	-	-	-	-	B	-	het	1
20	1	210857116	C	A	ENST00000271751	ENSG00000143473	210856555	211307457	ENSP00000271751	KCNH1	-1	KCNH1_HUMAN	c.2477G>T	p.G826V	non-syn	rs115026899	0.0264	A=303/C=8297;A=33/C=4373;A=336/C=12670	-	-	B	-	het	39

** 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 KCNH1 1:210856555..211307457 region Gbrowse