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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 COX6C:

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
ENSG00000164919	COX6C	1	0	0	ENSG00000164919	ENST00000522934	ENSP00000428702	cytochrome c oxidase subunit VIc [Source:HGNC Symbol;Acc:2285]	8	100885428	100906290	-1	q22.2	100885428	100905934	COX6C	COX6C-010	HGNC Symbol	HGNC transcript name	11	40.79	protein_coding	nonsense_mediated_decay	ensembl_hava	havana	KNOWN	KNOWN	1345	2285	COX6C		27523

MSeqDR Master Exome Data Set M1: 61 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	8	100899352	G	A	ENST00000523016	ENSG00000164919	100885428	100906290	ENSP00000429707	COX6C	-1	COX6C_HUMAN	-	-	3'_UTR	rs111339499	0.0042	-	-	-	-	-	het	1
2	8	100899793	G	A	ENST00000297564	ENSG00000164919	100885428	100906290	ENSP00000297564	COX6C	-1	COX6C_HUMAN	c.168C>T	p.Y56Y	syn	rs1130569	0.4031	A=1546/G=7050;A=2157/G=2249;A=3703/G=9299	lod=254:561	-	-	-	het	283
3	8	100899793	G	A	ENST00000297564	ENSG00000164919	100885428	100906290	ENSP00000297564	COX6C	-1	COX6C_HUMAN	c.168C>T	p.Y56Y	syn	rs1130569	0.4031	A=1546/G=7050;A=2157/G=2249;A=3703/G=9299	lod=254:561	-	-	-	hom	31
4	8	100899793	G	A	ENST00000517682	ENSG00000164919	100885428	100906290	ENSP00000429714	COX6C	-1	COX6C_HUMAN	c.168C>T	p.Y56Y	syn	rs1130569	0.4031	A=1546/G=7050;A=2157/G=2249;A=3703/G=9299	lod=254:561	-	-	-	het	283
5	8	100899793	G	A	ENST00000517682	ENSG00000164919	100885428	100906290	ENSP00000429714	COX6C	-1	COX6C_HUMAN	c.168C>T	p.Y56Y	syn	rs1130569	0.4031	A=1546/G=7050;A=2157/G=2249;A=3703/G=9299	lod=254:561	-	-	-	hom	31
6	8	100899793	G	A	ENST00000518171	ENSG00000164919	100885428	100906290	ENSP00000429755	COX6C	-1	COX6C_HUMAN	c.168C>T	p.Y56Y	syn	rs1130569	0.4031	A=1546/G=7050;A=2157/G=2249;A=3703/G=9299	lod=254:561	-	-	-	het	283
7	8	100899793	G	A	ENST00000518171	ENSG00000164919	100885428	100906290	ENSP00000429755	COX6C	-1	COX6C_HUMAN	c.168C>T	p.Y56Y	syn	rs1130569	0.4031	A=1546/G=7050;A=2157/G=2249;A=3703/G=9299	lod=254:561	-	-	-	hom	31
8	8	100899793	G	A	ENST00000520271	ENSG00000164919	100885428	100906290	ENSP00000428150	COX6C	-1	COX6C_HUMAN	c.168C>T	p.Y56Y	syn	rs1130569	0.4031	A=1546/G=7050;A=2157/G=2249;A=3703/G=9299	lod=254:561	-	-	-	het	283
9	8	100899793	G	A	ENST00000520271	ENSG00000164919	100885428	100906290	ENSP00000428150	COX6C	-1	COX6C_HUMAN	c.168C>T	p.Y56Y	syn	rs1130569	0.4031	A=1546/G=7050;A=2157/G=2249;A=3703/G=9299	lod=254:561	-	-	-	hom	31
10	8	100899793	G	A	ENST00000520468	ENSG00000164919	100885428	100906290	ENSP00000428895	COX6C	-1	COX6C_HUMAN	c.168C>T	p.Y56Y	syn	rs1130569	0.4031	A=1546/G=7050;A=2157/G=2249;A=3703/G=9299	lod=254:561	-	-	-	het	283
11	8	100899793	G	A	ENST00000520468	ENSG00000164919	100885428	100906290	ENSP00000428895	COX6C	-1	COX6C_HUMAN	c.168C>T	p.Y56Y	syn	rs1130569	0.4031	A=1546/G=7050;A=2157/G=2249;A=3703/G=9299	lod=254:561	-	-	-	hom	31
12	8	100899793	G	A	ENST00000520517	ENSG00000164919	100885428	100906290	ENSP00000429991	COX6C	-1	COX6C_HUMAN	c.168C>T	p.Y56Y	syn	rs1130569	0.4031	A=1546/G=7050;A=2157/G=2249;A=3703/G=9299	lod=254:561	-	-	-	het	283
13	8	100899793	G	A	ENST00000520517	ENSG00000164919	100885428	100906290	ENSP00000429991	COX6C	-1	COX6C_HUMAN	c.168C>T	p.Y56Y	syn	rs1130569	0.4031	A=1546/G=7050;A=2157/G=2249;A=3703/G=9299	lod=254:561	-	-	-	hom	31
14	8	100899793	G	A	ENST00000522934	ENSG00000164919	100885428	100906290	ENSP00000428702	COX6C	-1	COX6C_HUMAN	c.168C>T	p.Y56Y	syn	rs1130569	0.4031	A=1546/G=7050;A=2157/G=2249;A=3703/G=9299	lod=254:561	-	-	-	het	283
15	8	100899793	G	A	ENST00000522934	ENSG00000164919	100885428	100906290	ENSP00000428702	COX6C	-1	COX6C_HUMAN	c.168C>T	p.Y56Y	syn	rs1130569	0.4031	A=1546/G=7050;A=2157/G=2249;A=3703/G=9299	lod=254:561	-	-	-	hom	31
16	8	100899793	G	A	ENST00000522940	ENSG00000164919	100885428	100906290	ENSP00000428965	COX6C	-1	COX6C_HUMAN	c.168C>T	p.Y56Y	syn	rs1130569	0.4031	A=1546/G=7050;A=2157/G=2249;A=3703/G=9299	lod=254:561	-	-	-	het	283
17	8	100899793	G	A	ENST00000522940	ENSG00000164919	100885428	100906290	ENSP00000428965	COX6C	-1	COX6C_HUMAN	c.168C>T	p.Y56Y	syn	rs1130569	0.4031	A=1546/G=7050;A=2157/G=2249;A=3703/G=9299	lod=254:561	-	-	-	hom	31
18	8	100899793	G	A	ENST00000523016	ENSG00000164919	100885428	100906290	ENSP00000429707	COX6C	-1	COX6C_HUMAN	c.168C>T	p.Y56Y	syn	rs1130569	0.4031	A=1546/G=7050;A=2157/G=2249;A=3703/G=9299	lod=254:561	-	-	-	het	283
19	8	100899793	G	A	ENST00000523016	ENSG00000164919	100885428	100906290	ENSP00000429707	COX6C	-1	COX6C_HUMAN	c.168C>T	p.Y56Y	syn	rs1130569	0.4031	A=1546/G=7050;A=2157/G=2249;A=3703/G=9299	lod=254:561	-	-	-	hom	31
20	8	100899793	G	A	ENST00000524245	ENSG00000164919	100885428	100906290	ENSP00000429410	COX6C	-1	COX6C_HUMAN	c.168C>T	p.Y56Y	syn	rs1130569	0.4031	A=1546/G=7050;A=2157/G=2249;A=3703/G=9299	lod=254:561	-	-	-	het	283

** 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 COX6C 8:100885428..100906290 region Gbrowse