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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 COX6A2:

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
ENSG00000156885	COX6A2	1	2	0	ENSG00000156885	ENST00000287490	ENSP00000287490	cytochrome c oxidase subunit VIa polypeptide 2 [Source:HGNC Symbol;Acc:2279]	16	31439052	31439967	-1	p11.2	31439052	31439749	COX6A2	COX6A2-001	HGNC Symbol	HGNC transcript name	2	64.3	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	1339	2279	COX6A2	NM_005205	27514

MSeqDR Master Exome Data Set M1: 29 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	31439095	T	C	ENST00000287490	ENSG00000156885	31439052	31439967	ENSP00000287490	COX6A2	-1	CX6A2_HUMAN	c.294A>G	p.*98W	non-syn	NA	-	-	lod=17:272	TOLERATED	NA	-	het	2
2	16	31439152	G	A	ENST00000287490	ENSG00000156885	31439052	31439967	ENSP00000287490	COX6A2	-1	CX6A2_HUMAN	c.237C>T	p.H79H	syn	rs200813960	-	A=3/G=8597;A=0/G=4394;A=3/G=12991	lod=72:426	-	-	-	het	1
3	16	31439152	G	A	ENST00000565462	ENSG00000156885	31439052	31439967	-	COX6A2	-1	-	c.659C>T	p.T220I	non-syn	rs200813960	-	A=3/G=8597;A=0/G=4394;A=3/G=12991	lod=72:426	-	-	-	het	1
4	16	31439155	G	C	ENST00000287490	ENSG00000156885	31439052	31439967	ENSP00000287490	COX6A2	-1	CX6A2_HUMAN	c.234C>G	p.N78K	non-syn	NA	-	-	lod=72:426	DAMAGING	D	-	het	1
5	16	31439155	G	C	ENST00000565462	ENSG00000156885	31439052	31439967	-	COX6A2	-1	-	c.656C>G	p.T219S	non-syn	NA	-	-	lod=72:426	DAMAGING	D	-	het	1
6	16	31439170	G	A	ENST00000287490	ENSG00000156885	31439052	31439967	ENSP00000287490	COX6A2	-1	CX6A2_HUMAN	c.219C>T	p.P73P	syn	rs12240	0.0455	A=650/G=7950;A=390/G=4004;A=1040/G=11954	lod=72:426	-	-	-	het	55
7	16	31439170	G	A	ENST00000287490	ENSG00000156885	31439052	31439967	ENSP00000287490	COX6A2	-1	CX6A2_HUMAN	c.219C>T	p.P73P	syn	rs12240	0.0455	A=650/G=7950;A=390/G=4004;A=1040/G=11954	lod=72:426	-	-	-	hom	7
8	16	31439170	G	A	ENST00000565462	ENSG00000156885	31439052	31439967	-	COX6A2	-1	-	c.641C>T	p.P214L	non-syn	rs12240	0.0455	A=650/G=7950;A=390/G=4004;A=1040/G=11954	lod=72:426	-	-	-	het	55
9	16	31439170	G	A	ENST00000565462	ENSG00000156885	31439052	31439967	-	COX6A2	-1	-	c.641C>T	p.P214L	non-syn	rs12240	0.0455	A=650/G=7950;A=390/G=4004;A=1040/G=11954	lod=72:426	-	-	-	hom	7
10	16	31439320	C	T	ENST00000287490	ENSG00000156885	31439052	31439967	ENSP00000287490	COX6A2	-1	CX6A2_HUMAN	-	-	+16bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
11	16	31439320	C	T	ENST00000565462	ENSG00000156885	31439052	31439967	-	COX6A2	-1	-	-	-	+16bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
12	16	31439343	C	T	ENST00000287490	ENSG00000156885	31439052	31439967	ENSP00000287490	COX6A2	-1	CX6A2_HUMAN	c.203G>A	p.R68H	non-syn	NA	-	-	lod=117:478	DAMAGING	D	-	het	1
13	16	31439343	C	T	ENST00000565462	ENSG00000156885	31439052	31439967	-	COX6A2	-1	-	c.625G>A	p.A209T	non-syn	NA	-	-	lod=117:478	DAMAGING	D	-	het	1
14	16	31439513	C	G	ENST00000565462	ENSG00000156885	31439052	31439967	-	COX6A2	-1	-	c.455G>C	p.R152P	non-syn	rs115502256	0.1081	G=5/C=8307;G=396/C=3870;G=401/C=12177	-	-	-	-	het	7
15	16	31439513	C	G	ENST00000565462	ENSG00000156885	31439052	31439967	-	COX6A2	-1	-	c.455G>C	p.R152P	non-syn	rs115502256	0.1081	G=5/C=8307;G=396/C=3870;G=401/C=12177	-	-	-	-	hom	1
16	16	31439537	G	T	ENST00000565462	ENSG00000156885	31439052	31439967	-	COX6A2	-1	-	c.431C>A	p.T144N	non-syn	NA	-	T=6/G=8446;T=1/G=4287;T=7/G=12733	-	-	-	-	het	2
17	16	31439548	C	T	ENST00000565462	ENSG00000156885	31439052	31439967	-	COX6A2	-1	-	c.420G>A	p.G140G	syn	rs60662915	0.0288	T=0/C=8492;T=127/C=4189;T=127/C=12681	-	-	-	-	het	1
18	16	31439562	T	C	ENST00000287490	ENSG00000156885	31439052	31439967	ENSP00000287490	COX6A2	-1	CX6A2_HUMAN	-	-	+12bp 5'_splice_site	rs115157197	0.1384	C=6/T=8564;C=490/T=3884;C=496/T=12448	-	-	-	-	hom	1
19	16	31439562	T	C	ENST00000287490	ENSG00000156885	31439052	31439967	ENSP00000287490	COX6A2	-1	CX6A2_HUMAN	-	-	+12bp 5'_splice_site	rs115157197	0.1384	C=6/T=8564;C=490/T=3884;C=496/T=12448	-	-	-	-	het	7
20	16	31439562	T	C	ENST00000565462	ENSG00000156885	31439052	31439967	-	COX6A2	-1	-	c.406A>G	p.T136A	non-syn	rs115157197	0.1384	C=6/T=8564;C=490/T=3884;C=496/T=12448	-	-	-	-	hom	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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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding COX6A2 16:31439052..31439967 region Gbrowse