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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 COQ10A:

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
ENSG00000135469	COQ10A	1	0	0	ENSG00000135469	ENST00000308197	ENSP00000312587	coenzyme Q10 homolog A (S. cerevisiae) [Source:HGNC Symbol;Acc:26515]	12	56660642	56664750	1	q13.3	56660642	56664748	COQ10A	COQ10A-001	HGNC Symbol	HGNC transcript name	10	50.99	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	93058	26515	COQ10A	NM_144576	27519

MSeqDR Master Exome Data Set M1: 125 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	56660662	C	T	ENST00000308197	ENSG00000135469	56660642	56664750	ENSP00000312587	COQ10A	1	CQ10A_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
2	12	56660693	A	G	ENST00000308197	ENSG00000135469	56660642	56664750	ENSP00000312587	COQ10A	1	CQ10A_HUMAN	-	-	5'_UTR	rs1274498	0.0249	-	-	-	-	-	het	9
3	12	56660693	A	G	ENST00000551566	ENSG00000135469	56660642	56664750	-	COQ10A	1	-	c.20A>G	p.Y7C	non-syn	rs1274498	0.0249	-	-	-	-	-	het	9
4	12	56660693	A	G	ENST00000551911	ENSG00000135469	56660642	56664750	-	COQ10A	1	-	c.19A>G	p.T7A	non-syn	rs1274498	0.0249	-	-	-	-	-	het	9
5	12	56660905	G	T	ENST00000308197	ENSG00000135469	56660642	56664750	ENSP00000312587	COQ10A	1	CQ10A_HUMAN	c.3G>T	p.M1I	non-syn	rs60542959	0.087	-	lod=41:366	DAMAGING	P	-	het	32
6	12	56660905	G	T	ENST00000308197	ENSG00000135469	56660642	56664750	ENSP00000312587	COQ10A	1	CQ10A_HUMAN	c.3G>T	p.M1I	non-syn	rs60542959	0.087	-	lod=41:366	DAMAGING	P	-	hom	1
7	12	56660905	G	T	ENST00000551566	ENSG00000135469	56660642	56664750	-	COQ10A	1	-	c.232G>T	p.G78C	non-syn	rs60542959	0.087	-	lod=41:366	DAMAGING	P	-	het	32
8	12	56660905	G	T	ENST00000551566	ENSG00000135469	56660642	56664750	-	COQ10A	1	-	c.232G>T	p.G78C	non-syn	rs60542959	0.087	-	lod=41:366	DAMAGING	P	-	hom	1
9	12	56660905	G	T	ENST00000551911	ENSG00000135469	56660642	56664750	-	COQ10A	1	-	c.231G>T	p.M77I	non-syn	rs60542959	0.087	-	lod=41:366	DAMAGING	P	-	het	32
10	12	56660905	G	T	ENST00000551911	ENSG00000135469	56660642	56664750	-	COQ10A	1	-	c.231G>T	p.M77I	non-syn	rs60542959	0.087	-	lod=41:366	DAMAGING	P	-	hom	1
11	12	56660938	G	T	ENST00000308197	ENSG00000135469	56660642	56664750	ENSP00000312587	COQ10A	1	CQ10A_HUMAN	c.36G>T	p.G12G	syn	NA	-	-	lod=19:284	-	-	-	het	1
12	12	56660938	G	T	ENST00000551566	ENSG00000135469	56660642	56664750	-	COQ10A	1	-	c.265G>T	p.D89Y	non-syn	NA	-	-	lod=19:284	-	-	-	het	1
13	12	56660938	G	T	ENST00000551911	ENSG00000135469	56660642	56664750	-	COQ10A	1	-	c.264G>T	p.G88G	syn	NA	-	-	lod=19:284	-	-	-	het	1
14	12	56660940	C	A	ENST00000308197	ENSG00000135469	56660642	56664750	ENSP00000312587	COQ10A	1	CQ10A_HUMAN	c.38C>A	p.T13K	non-syn	NA	-	-	lod=19:284	DAMAGING	P	-	het	1
15	12	56660940	C	A	ENST00000308197	ENSG00000135469	56660642	56664750	ENSP00000312587	COQ10A	1	CQ10A_HUMAN	c.38C>A	p.T13K	non-syn	NA	-	-	lod=19:284	DAMAGING	P	-	hom	1
16	12	56660940	C	A	ENST00000551566	ENSG00000135469	56660642	56664750	-	COQ10A	1	-	c.267C>A	p.D89E	non-syn	NA	-	-	lod=19:284	DAMAGING	P	-	het	1
17	12	56660940	C	A	ENST00000551566	ENSG00000135469	56660642	56664750	-	COQ10A	1	-	c.267C>A	p.D89E	non-syn	NA	-	-	lod=19:284	DAMAGING	P	-	hom	1
18	12	56660940	C	A	ENST00000551911	ENSG00000135469	56660642	56664750	-	COQ10A	1	-	c.266C>A	p.T89K	non-syn	NA	-	-	lod=19:284	DAMAGING	P	-	het	1
19	12	56660940	C	A	ENST00000551911	ENSG00000135469	56660642	56664750	-	COQ10A	1	-	c.266C>A	p.T89K	non-syn	NA	-	-	lod=19:284	DAMAGING	P	-	hom	1
20	12	56660957	C	A	ENST00000308197	ENSG00000135469	56660642	56664750	ENSP00000312587	COQ10A	1	CQ10A_HUMAN	c.55C>A	p.R19S	non-syn	NA	-	-	lod=19:284	TOLERATED	B	-	het	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.

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**,
and click "Export" button to save as csv.

Transcripts and variants in the surrounding COQ10A 12:56660642..56664750 region Gbrowse