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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 COQ7:

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
ENSG00000167186	COQ7	1	12	1	ENSG00000167186	ENST00000321998	ENSP00000322316	coenzyme Q7 homolog, ubiquinone (yeast) [Source:HGNC Symbol;Acc:2244]	16	19078921	19091417	1	p12.3	19078921	19091417	COQ7	COQ7-001	HGNC Symbol	HGNC transcript name	11	46.2	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	10229	2244	COQ7	NM_016138	27514

MSeqDR Master Exome Data Set M1: 250 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	19078932	G	A	ENST00000321998	ENSG00000167186	19078921	19091417	ENSP00000322316	COQ7	1	COQ7_HUMAN	-	-	5'_UTR	rs141693068	0.0085	A=0/G=3182;A=41/G=1343;A=41/G=4525	-	-	-	-	het	1
2	16	19078969	C	+T	ENST00000321998	ENSG00000167186	19078921	19091417	ENSP00000322316	COQ7	1	COQ7_HUMAN	-	-	5'_UTR	rs113575419	-	-	-	-	-	-	het	43
3	16	19078969	C	+T	ENST00000321998	ENSG00000167186	19078921	19091417	ENSP00000322316	COQ7	1	COQ7_HUMAN	-	-	5'_UTR	rs113575419	-	-	-	-	-	-	hom	1
4	16	19078969	C	+T	ENST00000564746	ENSG00000167186	19078921	19091417	-	COQ7	1	-	c.2_3insT	p.A1NA	non-syn	rs113575419	-	-	-	-	-	-	het	43
5	16	19078969	C	+T	ENST00000564746	ENSG00000167186	19078921	19091417	-	COQ7	1	-	c.2_3insT	p.A1NA	non-syn	rs113575419	-	-	-	-	-	-	hom	1
6	16	19078969	C	+T	ENST00000566049	ENSG00000167186	19078921	19091417	ENSP00000456490	COQ7	1	-	-	-	5'_UTR	rs113575419	-	-	-	-	-	-	het	43
7	16	19078969	C	+T	ENST00000566049	ENSG00000167186	19078921	19091417	ENSP00000456490	COQ7	1	-	-	-	5'_UTR	rs113575419	-	-	-	-	-	-	hom	1
8	16	19078969	C	+T	ENST00000566110	ENSG00000167186	19078921	19091417	ENSP00000456943	COQ7	1	-	-	-	5'_UTR	rs113575419	-	-	-	-	-	-	het	43
9	16	19078969	C	+T	ENST00000566110	ENSG00000167186	19078921	19091417	ENSP00000456943	COQ7	1	-	-	-	5'_UTR	rs113575419	-	-	-	-	-	-	hom	1
10	16	19078969	C	+T	ENST00000568985	ENSG00000167186	19078921	19091417	ENSP00000456734	COQ7	1	COQ7_HUMAN	-	-	5'_UTR	rs113575419	-	-	-	-	-	-	het	43
11	16	19078969	C	+T	ENST00000568985	ENSG00000167186	19078921	19091417	ENSP00000456734	COQ7	1	COQ7_HUMAN	-	-	5'_UTR	rs113575419	-	-	-	-	-	-	hom	1
12	16	19079037	G	A	ENST00000321998	ENSG00000167186	19078921	19091417	ENSP00000322316	COQ7	1	COQ7_HUMAN	c.51G>A	p.P17P	syn	rs17357834	0.2014	A=1496/G=6922;A=571/G=3639;A=2067/G=10561	-	-	-	-	het	262
13	16	19079037	G	A	ENST00000321998	ENSG00000167186	19078921	19091417	ENSP00000322316	COQ7	1	COQ7_HUMAN	c.51G>A	p.P17P	syn	rs17357834	0.2014	A=1496/G=6922;A=571/G=3639;A=2067/G=10561	-	-	-	-	hom	24
14	16	19079037	G	A	ENST00000564746	ENSG00000167186	19078921	19091417	-	COQ7	1	-	c.70G>A	p.G24R	non-syn	rs17357834	0.2014	A=1496/G=6922;A=571/G=3639;A=2067/G=10561	-	-	-	-	het	262
15	16	19079037	G	A	ENST00000564746	ENSG00000167186	19078921	19091417	-	COQ7	1	-	c.70G>A	p.G24R	non-syn	rs17357834	0.2014	A=1496/G=6922;A=571/G=3639;A=2067/G=10561	-	-	-	-	hom	24
16	16	19079037	G	A	ENST00000566049	ENSG00000167186	19078921	19091417	ENSP00000456490	COQ7	1	-	c.51G>A	p.P17P	syn	rs17357834	0.2014	A=1496/G=6922;A=571/G=3639;A=2067/G=10561	-	-	-	-	het	262
17	16	19079037	G	A	ENST00000566049	ENSG00000167186	19078921	19091417	ENSP00000456490	COQ7	1	-	c.51G>A	p.P17P	syn	rs17357834	0.2014	A=1496/G=6922;A=571/G=3639;A=2067/G=10561	-	-	-	-	hom	24
18	16	19079037	G	A	ENST00000566110	ENSG00000167186	19078921	19091417	ENSP00000456943	COQ7	1	-	-	-	5'_UTR	rs17357834	0.2014	A=1496/G=6922;A=571/G=3639;A=2067/G=10561	-	-	-	-	het	262
19	16	19079037	G	A	ENST00000566110	ENSG00000167186	19078921	19091417	ENSP00000456943	COQ7	1	-	-	-	5'_UTR	rs17357834	0.2014	A=1496/G=6922;A=571/G=3639;A=2067/G=10561	-	-	-	-	hom	24
20	16	19079037	G	A	ENST00000568985	ENSG00000167186	19078921	19091417	ENSP00000456734	COQ7	1	COQ7_HUMAN	c.51G>A	p.P17P	syn	rs17357834	0.2014	A=1496/G=6922;A=571/G=3639;A=2067/G=10561	-	-	-	-	het	262

** 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 COQ7 16:19078921..19091417 region Gbrowse