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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 COQ6:

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
ENSG00000119723	COQ6	1	16	9	ENSG00000119723	ENST00000555552		coenzyme Q6 monooxygenase [Source:HGNC Symbol;Acc:20233]	14	74416629	74430373	1	q24.3	74417013	74423185	COQ6	COQ6-016	HGNC Symbol	HGNC transcript name	22	45.54	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	51004	20233	COQ6		27520

MSeqDR Master Exome Data Set M1: 328 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	14	74416646	T	G	ENST00000238709	ENSG00000119723	74416629	74430373	ENSP00000238709	COQ6	1	-	-	-	5'_UTR	rs116578534	0.037	G=2/T=8598;G=247/T=4159;G=249/T=12757	-	-	-	-	het	7
2	14	74416646	T	G	ENST00000394026	ENSG00000119723	74416629	74430373	ENSP00000377594	COQ6	1	COQ6_HUMAN	-	-	5'_UTR	rs116578534	0.037	G=2/T=8598;G=247/T=4159;G=249/T=12757	-	-	-	-	het	7
3	14	74416646	T	G	ENST00000554341	ENSG00000119723	74416629	74430373	ENSP00000450736	COQ6	1	-	-	-	5'_UTR	rs116578534	0.037	G=2/T=8598;G=247/T=4159;G=249/T=12757	-	-	-	-	het	7
4	14	74416665	T	C	ENST00000238709	ENSG00000119723	74416629	74430373	ENSP00000238709	COQ6	1	-	-	-	5'_UTR	rs17094157	0.1195	C=494/T=8106;C=64/T=4342;C=558/T=12448	-	-	-	-	het	166
5	14	74416665	T	C	ENST00000238709	ENSG00000119723	74416629	74430373	ENSP00000238709	COQ6	1	-	-	-	5'_UTR	rs17094157	0.1195	C=494/T=8106;C=64/T=4342;C=558/T=12448	-	-	-	-	hom	6
6	14	74416665	T	C	ENST00000394026	ENSG00000119723	74416629	74430373	ENSP00000377594	COQ6	1	COQ6_HUMAN	-	-	5'_UTR	rs17094157	0.1195	C=494/T=8106;C=64/T=4342;C=558/T=12448	-	-	-	-	het	166
7	14	74416665	T	C	ENST00000394026	ENSG00000119723	74416629	74430373	ENSP00000377594	COQ6	1	COQ6_HUMAN	-	-	5'_UTR	rs17094157	0.1195	C=494/T=8106;C=64/T=4342;C=558/T=12448	-	-	-	-	hom	6
8	14	74416665	T	C	ENST00000554341	ENSG00000119723	74416629	74430373	ENSP00000450736	COQ6	1	-	-	-	5'_UTR	rs17094157	0.1195	C=494/T=8106;C=64/T=4342;C=558/T=12448	-	-	-	-	het	166
9	14	74416665	T	C	ENST00000554341	ENSG00000119723	74416629	74430373	ENSP00000450736	COQ6	1	-	-	-	5'_UTR	rs17094157	0.1195	C=494/T=8106;C=64/T=4342;C=558/T=12448	-	-	-	-	hom	6
10	14	74416698	C	G	ENST00000238709	ENSG00000119723	74416629	74430373	ENSP00000238709	COQ6	1	-	-	-	5'_UTR	rs11848954	0.0282	G=56/C=8544;G=283/C=4123;G=339/C=12667	-	TOLERATED	P	-	het	28
11	14	74416698	C	G	ENST00000394026	ENSG00000119723	74416629	74430373	ENSP00000377594	COQ6	1	COQ6_HUMAN	-	-	5'_UTR	rs11848954	0.0282	G=56/C=8544;G=283/C=4123;G=339/C=12667	-	TOLERATED	P	-	het	28
12	14	74416698	C	G	ENST00000554341	ENSG00000119723	74416629	74430373	ENSP00000450736	COQ6	1	-	-	-	5'_UTR	rs11848954	0.0282	G=56/C=8544;G=283/C=4123;G=339/C=12667	-	TOLERATED	P	-	het	28
13	14	74416782	T	G	ENST00000238709	ENSG00000119723	74416629	74430373	ENSP00000238709	COQ6	1	-	-	-	5'_UTR	rs190881382	0.097	-	-	-	-	-	het	8
14	14	74416782	T	G	ENST00000394026	ENSG00000119723	74416629	74430373	ENSP00000377594	COQ6	1	COQ6_HUMAN	-	-	5'_UTR	rs190881382	0.097	-	-	-	-	-	het	8
15	14	74416782	T	G	ENST00000554341	ENSG00000119723	74416629	74430373	ENSP00000450736	COQ6	1	-	-	-	5'_UTR	rs190881382	0.097	-	-	-	-	-	het	8
16	14	74416832	G	T	ENST00000238709	ENSG00000119723	74416629	74430373	ENSP00000238709	COQ6	1	-	-	-	5'_UTR	rs111833521	0.0291	-	-	-	-	-	het	2
17	14	74416832	G	T	ENST00000394026	ENSG00000119723	74416629	74430373	ENSP00000377594	COQ6	1	COQ6_HUMAN	c.37G>T	p.V13F	non-syn	rs111833521	0.0291	-	-	-	-	-	het	2
18	14	74416832	G	T	ENST00000554341	ENSG00000119723	74416629	74430373	ENSP00000450736	COQ6	1	-	c.37G>T	p.V13F	non-syn	rs111833521	0.0291	-	-	-	-	-	het	2
19	14	74416836	G	A	ENST00000238709	ENSG00000119723	74416629	74430373	ENSP00000238709	COQ6	1	-	-	-	5'_UTR	rs17094161	0.0359	-	lod=22:300	-	-	-	het	6
20	14	74416836	G	A	ENST00000394026	ENSG00000119723	74416629	74430373	ENSP00000377594	COQ6	1	COQ6_HUMAN	c.41G>A	p.W14*	non-syn	rs17094161	0.0359	-	lod=22:300	-	-	-	het	6

** 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 COQ6 14:74416629..74430373 region Gbrowse