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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 COQ10B:

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
ENSG00000115520	COQ10B	1	0	0	ENSG00000115520	ENST00000263960	ENSP00000263960	coenzyme Q10 homolog B (S. cerevisiae) [Source:HGNC Symbol;Acc:25819]	2	198318147	198340032	1	q33.1	198318147	198340032	COQ10B	COQ10B-001	HGNC Symbol	HGNC transcript name	5	41.73	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	80219	25819	COQ10B	NM_025147	27508

MSeqDR Master Exome Data Set M1: 65 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	2	198318153	G	A	ENST00000263960	ENSG00000115520	198318147	198340032	ENSP00000263960	COQ10B	1	CQ10B_HUMAN	-	-	5'_UTR	NA	-	-	lod=25:313	-	-	-	het	1
2	2	198318193	A	G	ENST00000263960	ENSG00000115520	198318147	198340032	ENSP00000263960	COQ10B	1	CQ10B_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	hom	1
3	2	198318497	C	T	ENST00000488445	ENSG00000115520	198318147	198340032	-	COQ10B	1	-	c.10C>T	p.R4C	non-syn	rs73988467	0.0668	-	-	-	-	-	het	4
4	2	198318497	C	T	ENST00000545340	ENSG00000115520	198318147	198340032	ENSP00000442520	COQ10B	1	-	-	-	5'_UTR	rs73988467	0.0668	-	-	-	-	-	het	4
5	2	198318594	G	C	ENST00000409010	ENSG00000115520	198318147	198340032	ENSP00000387223	COQ10B	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
6	2	198318594	G	C	ENST00000488445	ENSG00000115520	198318147	198340032	-	COQ10B	1	-	c.107G>C	p.R36P	non-syn	NA	-	-	-	-	-	-	het	1
7	2	198318594	G	C	ENST00000545340	ENSG00000115520	198318147	198340032	ENSP00000442520	COQ10B	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
8	2	198318687	A	G	ENST00000409010	ENSG00000115520	198318147	198340032	ENSP00000387223	COQ10B	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3
9	2	198318687	A	G	ENST00000488445	ENSG00000115520	198318147	198340032	-	COQ10B	1	-	c.200A>G	p.Y67C	non-syn	NA	-	-	-	-	-	-	het	3
10	2	198318687	A	G	ENST00000545340	ENSG00000115520	198318147	198340032	ENSP00000442520	COQ10B	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3
11	2	198318836	G	-AA	ENST00000488445	ENSG00000115520	198318147	198340032	-	COQ10B	1	-	c.350_351del	p.E117NA	non-syn	rs140359507	-	-	-	-	-	-	het	17
12	2	198318836	G	-AA	ENST00000488445	ENSG00000115520	198318147	198340032	-	COQ10B	1	-	c.350_351del	p.E117NA	non-syn	rs140359507	-	-	-	-	-	-	hom	3
13	2	198318836	G	-AA	ENST00000545340	ENSG00000115520	198318147	198340032	ENSP00000442520	COQ10B	1	-	-	-	5'_UTR	rs140359507	-	-	-	-	-	-	het	17
14	2	198318836	G	-AA	ENST00000545340	ENSG00000115520	198318147	198340032	ENSP00000442520	COQ10B	1	-	-	-	5'_UTR	rs140359507	-	-	-	-	-	-	hom	3
15	2	198318851	C	G	ENST00000488445	ENSG00000115520	198318147	198340032	-	COQ10B	1	-	c.364C>G	p.P122A	non-syn	rs138053592	0.00642	-	-	-	-	-	het	8
16	2	198318851	C	G	ENST00000545340	ENSG00000115520	198318147	198340032	ENSP00000442520	COQ10B	1	-	-	-	5'_UTR	rs138053592	0.00642	-	-	-	-	-	het	8
17	2	198327314	G	A	ENST00000263960	ENSG00000115520	198318147	198340032	ENSP00000263960	COQ10B	1	CQ10B_HUMAN	c.306G>A	p.K102K	syn	rs3754822	0.19778	A=1697/G=6903;A=381/G=4025;A=2078/G=10928	lod=217:544	-	-	-	het	303
18	2	198327314	G	A	ENST00000263960	ENSG00000115520	198318147	198340032	ENSP00000263960	COQ10B	1	CQ10B_HUMAN	c.306G>A	p.K102K	syn	rs3754822	0.19778	A=1697/G=6903;A=381/G=4025;A=2078/G=10928	lod=217:544	-	-	-	hom	29
19	2	198327314	G	A	ENST00000409010	ENSG00000115520	198318147	198340032	ENSP00000387223	COQ10B	1	-	c.222G>A	p.K74K	syn	rs3754822	0.19778	A=1697/G=6903;A=381/G=4025;A=2078/G=10928	lod=217:544	-	-	-	het	303
20	2	198327314	G	A	ENST00000409010	ENSG00000115520	198318147	198340032	ENSP00000387223	COQ10B	1	-	c.222G>A	p.K74K	syn	rs3754822	0.19778	A=1697/G=6903;A=381/G=4025;A=2078/G=10928	lod=217:544	-	-	-	hom	29

** 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 COQ10B 2:198318147..198340032 region Gbrowse