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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 COQ9:

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
ENSG00000088682	COQ9	1	33	19	ENSG00000088682	ENST00000566388		coenzyme Q9 [Source:HGNC Symbol;Acc:25302]	16	57481337	57495187	1	q21	57481337	57488216	COQ9	COQ9-002	HGNC Symbol	HGNC transcript name	16	45.83	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	57017	25302	COQ9		27514

MSeqDR Master Exome Data Set M1: 238 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	16	57481443	C	T	ENST00000262507	ENSG00000088682	57481337	57495187	ENSP00000262507	COQ9	1	COQ9_HUMAN	c.26C>T	p.A9V	non-syn	NA	-	-	-	TOLERATED	NA	-	het	1
2	16	57481443	C	T	ENST00000562426	ENSG00000088682	57481337	57495187	-	COQ9	1	-	c.29C>T	p.A10V	non-syn	NA	-	-	-	TOLERATED	NA	-	het	1
3	16	57481443	C	T	ENST00000562734	ENSG00000088682	57481337	57495187	-	COQ9	1	-	c.50C>T	p.A17V	non-syn	NA	-	-	-	TOLERATED	NA	-	het	1
4	16	57481443	C	T	ENST00000564115	ENSG00000088682	57481337	57495187	ENSP00000455256	COQ9	1	-	c.26C>T	p.A9V	non-syn	NA	-	-	-	TOLERATED	NA	-	het	1
5	16	57481443	C	T	ENST00000564655	ENSG00000088682	57481337	57495187	ENSP00000454992	COQ9	1	-	c.26C>T	p.A9V	non-syn	NA	-	-	-	TOLERATED	NA	-	het	1
6	16	57481443	C	T	ENST00000565964	ENSG00000088682	57481337	57495187	ENSP00000458023	COQ9	1	-	c.26C>T	p.A9V	non-syn	NA	-	-	-	TOLERATED	NA	-	het	1
7	16	57481443	C	T	ENST00000566388	ENSG00000088682	57481337	57495187	-	COQ9	1	-	c.107C>T	p.A36V	non-syn	NA	-	-	-	TOLERATED	NA	-	het	1
8	16	57481443	C	T	ENST00000567072	ENSG00000088682	57481337	57495187	ENSP00000456728	COQ9	1	-	c.26C>T	p.A9V	non-syn	NA	-	-	-	TOLERATED	NA	-	het	1
9	16	57481443	C	T	ENST00000567933	ENSG00000088682	57481337	57495187	ENSP00000456174	COQ9	1	-	c.26C>T	p.A9V	non-syn	NA	-	-	-	TOLERATED	NA	-	het	1
10	16	57481443	C	T	ENST00000568790	ENSG00000088682	57481337	57495187	-	COQ9	1	-	c.50C>T	p.A17V	non-syn	NA	-	-	-	TOLERATED	NA	-	het	1
11	16	57484917	G	A	ENST00000567384	ENSG00000088682	57481337	57495187	-	COQ9	1	-	c.221G>A	p.C74Y	non-syn	rs223863	0.0444	A=299/G=8301;A=219/G=4177;A=518/G=12478	-	-	-	-	hom	4
12	16	57484917	G	A	ENST00000567384	ENSG00000088682	57481337	57495187	-	COQ9	1	-	c.221G>A	p.C74Y	non-syn	rs223863	0.0444	A=299/G=8301;A=219/G=4177;A=518/G=12478	-	-	-	-	het	66
13	16	57484939	G	A	ENST00000262507	ENSG00000088682	57481337	57495187	ENSP00000262507	COQ9	1	COQ9_HUMAN	-	-	-13bp 3'_splice_site	rs181356497	0.0027	A=25/G=8575;A=2/G=4394;A=27/G=12969	-	-	-	-	het	1
14	16	57484939	G	A	ENST00000562426	ENSG00000088682	57481337	57495187	-	COQ9	1	-	-	-	-13bp 3'_splice_site	rs181356497	0.0027	A=25/G=8575;A=2/G=4394;A=27/G=12969	-	-	-	-	het	1
15	16	57484939	G	A	ENST00000562734	ENSG00000088682	57481337	57495187	-	COQ9	1	-	-	-	-13bp 3'_splice_site	rs181356497	0.0027	A=25/G=8575;A=2/G=4394;A=27/G=12969	-	-	-	-	het	1
16	16	57484939	G	A	ENST00000563166	ENSG00000088682	57481337	57495187	ENSP00000455495	COQ9	1	-	-	-	-13bp 3'_splice_site	rs181356497	0.0027	A=25/G=8575;A=2/G=4394;A=27/G=12969	-	-	-	-	het	1
17	16	57484939	G	A	ENST00000563391	ENSG00000088682	57481337	57495187	ENSP00000455516	COQ9	1	-	-	-	-13bp 3'_splice_site	rs181356497	0.0027	A=25/G=8575;A=2/G=4394;A=27/G=12969	-	-	-	-	het	1
18	16	57484939	G	A	ENST00000564115	ENSG00000088682	57481337	57495187	ENSP00000455256	COQ9	1	-	-	-	-13bp 3'_splice_site	rs181356497	0.0027	A=25/G=8575;A=2/G=4394;A=27/G=12969	-	-	-	-	het	1
19	16	57484939	G	A	ENST00000564655	ENSG00000088682	57481337	57495187	ENSP00000454992	COQ9	1	-	-	-	-1bp 3'_splice_site	rs181356497	0.0027	A=25/G=8575;A=2/G=4394;A=27/G=12969	-	-	-	-	het	1
20	16	57484939	G	A	ENST00000565964	ENSG00000088682	57481337	57495187	ENSP00000458023	COQ9	1	-	-	-	-13bp 3'_splice_site	rs181356497	0.0027	A=25/G=8575;A=2/G=4394;A=27/G=12969	-	-	-	-	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.

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Transcripts and variants in the surrounding COQ9 16:57481337..57495187 region Gbrowse