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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 COQ4:

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
ENSG00000167113	COQ4	1	48	7	ENSG00000167113	ENST00000300452	ENSP00000300452	coenzyme Q4 [Source:HGNC Symbol;Acc:19693]	9	131084815	131096351	1	q34.11	131084815	131096351	COQ4	COQ4-001	HGNC Symbol	HGNC transcript name	5	51.72	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	51117	19693	COQ4	NM_016035	27518

MSeqDR Master Exome Data Set M1: 47 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	9	131084925	G	T	ENST00000300452	ENSG00000167113	131084815	131096351	ENSP00000300452	COQ4	1	COQ4_HUMAN	-	-	5'_UTR	rs150001858	0.0044	-	-	-	-	-	het	2
2	9	131084979	C	T	ENST00000300452	ENSG00000167113	131084815	131096351	ENSP00000300452	COQ4	1	COQ4_HUMAN	-	-	5'_UTR	rs76347598	0.0144	-	-	-	-	-	het	29
3	9	131084979	C	T	ENST00000300452	ENSG00000167113	131084815	131096351	ENSP00000300452	COQ4	1	COQ4_HUMAN	-	-	5'_UTR	rs76347598	0.0144	-	-	-	-	-	hom	2
4	9	131085050	A	G	ENST00000300452	ENSG00000167113	131084815	131096351	ENSP00000300452	COQ4	1	COQ4_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
5	9	131085113	C	T	ENST00000300452	ENSG00000167113	131084815	131096351	ENSP00000300452	COQ4	1	COQ4_HUMAN	-	-	5'_UTR	rs144235048	0.009	T=5/C=7973;T=26/C=4064;T=31/C=12037	-	-	-	-	het	5
6	9	131085196	G	A	ENST00000300452	ENSG00000167113	131084815	131096351	ENSP00000300452	COQ4	1	COQ4_HUMAN	c.59G>A	p.R20Q	non-syn	rs9697215	0.1135	A=174/G=8010;A=385/G=3747;A=559/G=11757	-	TOLERATED	B	-	het	38
7	9	131085196	G	A	ENST00000300452	ENSG00000167113	131084815	131096351	ENSP00000300452	COQ4	1	COQ4_HUMAN	c.59G>A	p.R20Q	non-syn	rs9697215	0.1135	A=174/G=8010;A=385/G=3747;A=559/G=11757	-	TOLERATED	B	-	hom	2
8	9	131085196	G	A	ENST00000372875	ENSG00000167113	131084815	131096351	ENSP00000361966	COQ4	1	-	c.59G>A	p.R20Q	non-syn	rs9697215	0.1135	A=174/G=8010;A=385/G=3747;A=559/G=11757	-	TOLERATED	B	-	het	38
9	9	131085196	G	A	ENST00000372875	ENSG00000167113	131084815	131096351	ENSP00000361966	COQ4	1	-	c.59G>A	p.R20Q	non-syn	rs9697215	0.1135	A=174/G=8010;A=385/G=3747;A=559/G=11757	-	TOLERATED	B	-	hom	2
10	9	131085373	G	C	ENST00000300452	ENSG00000167113	131084815	131096351	ENSP00000300452	COQ4	1	COQ4_HUMAN	c.149G>C	p.G50A	non-syn	rs3003601	1	C=8319/G=3;C=4180/G=34;C=12499/G=37	lod=93:454	TOLERATED	B	-	hom	866
11	9	131085373	G	C	ENST00000372875	ENSG00000167113	131084815	131096351	ENSP00000361966	COQ4	1	-	c.149G>C	p.G50A	non-syn	rs3003601	1	C=8319/G=3;C=4180/G=34;C=12499/G=37	lod=93:454	TOLERATED	B	-	hom	866
12	9	131085376	T	C	ENST00000300452	ENSG00000167113	131084815	131096351	ENSP00000300452	COQ4	1	COQ4_HUMAN	c.152T>C	p.L51P	non-syn	NA	-	-	lod=93:454	DAMAGING	D	-	het	1
13	9	131085376	T	C	ENST00000372875	ENSG00000167113	131084815	131096351	ENSP00000361966	COQ4	1	-	c.152T>C	p.L51P	non-syn	NA	-	-	lod=93:454	DAMAGING	D	-	het	1
14	9	131085414	C	T	ENST00000300452	ENSG00000167113	131084815	131096351	ENSP00000300452	COQ4	1	COQ4_HUMAN	c.190C>T	p.P64S	non-syn	NA	-	-	lod=36:352	DAMAGING	D	-	het	1
15	9	131085414	C	T	ENST00000372875	ENSG00000167113	131084815	131096351	ENSP00000361966	COQ4	1	-	c.190C>T	p.P64S	non-syn	NA	-	-	lod=36:352	DAMAGING	D	-	het	1
16	9	131088076	G	A	ENST00000300452	ENSG00000167113	131084815	131096351	ENSP00000300452	COQ4	1	COQ4_HUMAN	c.318G>A	p.S106S	syn	rs2270203	0.16	A=358/G=8242;A=845/G=3561;A=1203/G=11803	lod=38:358	-	-	-	het	113
17	9	131088076	G	A	ENST00000300452	ENSG00000167113	131084815	131096351	ENSP00000300452	COQ4	1	COQ4_HUMAN	c.318G>A	p.S106S	syn	rs2270203	0.16	A=358/G=8242;A=845/G=3561;A=1203/G=11803	lod=38:358	-	-	-	hom	4
18	9	131088076	G	A	ENST00000372875	ENSG00000167113	131084815	131096351	ENSP00000361966	COQ4	1	-	c.318G>A	p.S106S	syn	rs2270203	0.16	A=358/G=8242;A=845/G=3561;A=1203/G=11803	lod=38:358	-	-	-	het	113
19	9	131088076	G	A	ENST00000372875	ENSG00000167113	131084815	131096351	ENSP00000361966	COQ4	1	-	c.318G>A	p.S106S	syn	rs2270203	0.16	A=358/G=8242;A=845/G=3561;A=1203/G=11803	lod=38:358	-	-	-	hom	4
20	9	131088214	G	A	ENST00000372875	ENSG00000167113	131084815	131096351	ENSP00000361966	COQ4	1	-	c.456G>A	p.152	syn	rs79172715	0.0501	-	-	-	-	-	het	7

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Transcripts and variants in the surrounding COQ4 9:131084815..131096351 region Gbrowse