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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 COQ5:

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
ENSG00000110871	COQ5	1	0	0	ENSG00000110871	ENST00000288532	ENSP00000288532	coenzyme Q5 homolog, methyltransferase (S. cerevisiae) [Source:HGNC Symbol;Acc:28722]	12	120941077	120972237	-1	q24.31	120941077	120966985	COQ5	COQ5-001	HGNC Symbol	HGNC transcript name	8	45.87	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	84274	28722	COQ5	NM_032314	27519

MSeqDR Master Exome Data Set M1: 93 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	120941215	T	C	ENST00000288532	ENSG00000110871	120941077	120972237	ENSP00000288532	COQ5	-1	COQ5_HUMAN	-	-	3'_UTR	rs7471	0.375	-	-	-	-	-	hom	57
2	12	120941215	T	C	ENST00000288532	ENSG00000110871	120941077	120972237	ENSP00000288532	COQ5	-1	COQ5_HUMAN	-	-	3'_UTR	rs7471	0.375	-	-	-	-	-	het	229
3	12	120941379	G	C	ENST00000288532	ENSG00000110871	120941077	120972237	ENSP00000288532	COQ5	-1	COQ5_HUMAN	-	-	3'_UTR	rs117337139	0.00363	-	-	DAMAGING	-	-	het	2
4	12	120941379	G	C	ENST00000445328	ENSG00000110871	120941077	120972237	ENSP00000401798	COQ5	-1	-	-	-	3'_UTR	rs117337139	0.00363	-	-	DAMAGING	-	-	het	2
5	12	120941444	T	C	ENST00000288532	ENSG00000110871	120941077	120972237	ENSP00000288532	COQ5	-1	COQ5_HUMAN	-	-	3'_UTR	rs14017	0.05225	-	-	-	-	-	het	82
6	12	120941444	T	C	ENST00000288532	ENSG00000110871	120941077	120972237	ENSP00000288532	COQ5	-1	COQ5_HUMAN	-	-	3'_UTR	rs14017	0.05225	-	-	-	-	-	hom	3
7	12	120941444	T	C	ENST00000445328	ENSG00000110871	120941077	120972237	ENSP00000401798	COQ5	-1	-	-	-	3'_UTR	rs14017	0.05225	-	-	-	-	-	het	82
8	12	120941444	T	C	ENST00000445328	ENSG00000110871	120941077	120972237	ENSP00000401798	COQ5	-1	-	-	-	3'_UTR	rs14017	0.05225	-	-	-	-	-	hom	3
9	12	120941445	G	A	ENST00000288532	ENSG00000110871	120941077	120972237	ENSP00000288532	COQ5	-1	COQ5_HUMAN	-	-	3'_UTR	rs201435332	-	-	-	TOLERATED	-	-	het	6
10	12	120941445	G	A	ENST00000445328	ENSG00000110871	120941077	120972237	ENSP00000401798	COQ5	-1	-	-	-	3'_UTR	rs201435332	-	-	-	TOLERATED	-	-	het	6
11	12	120941455	G	A	ENST00000288532	ENSG00000110871	120941077	120972237	ENSP00000288532	COQ5	-1	COQ5_HUMAN	-	-	3'_UTR	rs185415574	0.00089	-	-	TOLERATED	-	-	het	2
12	12	120941455	G	A	ENST00000445328	ENSG00000110871	120941077	120972237	ENSP00000401798	COQ5	-1	-	-	-	3'_UTR	rs185415574	0.00089	-	-	TOLERATED	-	-	het	2
13	12	120941673	T	C	ENST00000288532	ENSG00000110871	120941077	120972237	ENSP00000288532	COQ5	-1	COQ5_HUMAN	c.898A>G	p.M300V	non-syn	NA	-	-	lod=244:557	DAMAGING	P	-	het	1
14	12	120941673	T	C	ENST00000445328	ENSG00000110871	120941077	120972237	ENSP00000401798	COQ5	-1	-	c.676A>G	p.M226V	non-syn	NA	-	-	lod=244:557	DAMAGING	P	-	het	1
15	12	120942784	T	C	ENST00000288532	ENSG00000110871	120941077	120972237	ENSP00000288532	COQ5	-1	COQ5_HUMAN	c.684A>G	p.A228A	syn	NA	-	-	lod=403:610	-	-	-	het	1
16	12	120942784	T	C	ENST00000445328	ENSG00000110871	120941077	120972237	ENSP00000401798	COQ5	-1	-	c.462A>G	p.A154A	syn	NA	-	-	lod=403:610	-	-	-	het	1
17	12	120942784	T	C	ENST00000552443	ENSG00000110871	120941077	120972237	ENSP00000449863	COQ5	-1	-	c.441A>G	p.A147A	syn	NA	-	-	lod=403:610	-	-	-	het	1
18	12	120947754	A	G	ENST00000546838	ENSG00000110871	120941077	120972237	-	COQ5	-1	-	c.291T>C	p.S97S	syn	NA	-	-	-	-	-	-	het	1
19	12	120947788	G	C	ENST00000546838	ENSG00000110871	120941077	120972237	-	COQ5	-1	-	c.257C>G	p.T86S	non-syn	rs4766968	0.3688	C=2730/G=5870;C=474/G=3932;C=3204/G=9802	-	-	-	-	het	379
20	12	120947788	G	C	ENST00000546838	ENSG00000110871	120941077	120972237	-	COQ5	-1	-	c.257C>G	p.T86S	non-syn	rs4766968	0.3688	C=2730/G=5870;C=474/G=3932;C=3204/G=9802	-	-	-	-	hom	85

** 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.

As MSeqDR registered user , your accessible protected data set after login:

Select a dataset from the above drop-down list,
**click here to view variant details for this gene in selected data set**,
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Transcripts and variants in the surrounding COQ5 12:120941077..120972237 region Gbrowse