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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 COX7C:

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
ENSG00000127184	COX7C	1	0	0	ENSG00000127184	ENST00000247655	ENSP00000247655	cytochrome c oxidase subunit VIIc [Source:HGNC Symbol;Acc:2292]	5	85913721	85916779	1	q14.3	85913721	85916779	COX7C	COX7C-001	HGNC Symbol	HGNC transcript name	7	42.27	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	1350	2292	COX7C		27527

MSeqDR Master Exome Data Set M1: 58 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	5	85913721	C	T	ENST00000247655	ENSG00000127184	85913721	85916779	ENSP00000247655	COX7C	1	COX7C_HUMAN	-	-	5'_UTR	rs79512737	0.0437	-	-	-	-	-	het	1
2	5	85913746	T	C	ENST00000247655	ENSG00000127184	85913721	85916779	ENSP00000247655	COX7C	1	COX7C_HUMAN	-	-	5'_UTR	rs16902281	0.0529	-	-	-	-	-	het	5
3	5	85913746	T	C	ENST00000511472	ENSG00000127184	85913721	85916779	-	COX7C	1	-	c.2T>C	p.I1T	non-syn	rs16902281	0.0529	-	-	-	-	-	het	5
4	5	85914036	T	A	ENST00000510447	ENSG00000127184	85913721	85916779	-	COX7C	1	-	c.45T>A	p.R15R	syn	rs16902282	0.1117	-	-	-	-	-	het	1
5	5	85914036	T	A	ENST00000510447	ENSG00000127184	85913721	85916779	-	COX7C	1	-	c.45T>A	p.R15R	syn	rs16902282	0.1117	-	-	-	-	-	hom	3
6	5	85914137	G	C	ENST00000510447	ENSG00000127184	85913721	85916779	-	COX7C	1	-	c.146G>C	p.R49T	non-syn	rs142837865	0.0042	-	-	-	-	-	het	7
7	5	85915155	C	-TT	ENST00000247655	ENSG00000127184	85913721	85916779	ENSP00000247655	COX7C	1	COX7C_HUMAN	-	-	-13bp 3'_splice_site	rs144353141	-	-	-	-	-	-	het	4
8	5	85915155	C	-TT	ENST00000505430	ENSG00000127184	85913721	85916779	-	COX7C	1	-	-	-	-13bp 3'_splice_site	rs144353141	-	-	-	-	-	-	het	4
9	5	85915155	C	-TT	ENST00000509578	ENSG00000127184	85913721	85916779	ENSP00000425759	COX7C	1	COX7C_HUMAN	-	-	-13bp 3'_splice_site	rs144353141	-	-	-	-	-	-	het	4
10	5	85915155	C	-TT	ENST00000510447	ENSG00000127184	85913721	85916779	-	COX7C	1	-	-	-	-13bp 3'_splice_site	rs144353141	-	-	-	-	-	-	het	4
11	5	85915155	C	-TT	ENST00000511472	ENSG00000127184	85913721	85916779	-	COX7C	1	-	-	-	-13bp 3'_splice_site	rs144353141	-	-	-	-	-	-	het	4
12	5	85915155	C	-TT	ENST00000513124	ENSG00000127184	85913721	85916779	-	COX7C	1	-	-	-	-13bp 3'_splice_site	rs144353141	-	-	-	-	-	-	het	4
13	5	85915155	C	-TT	ENST00000515763	ENSG00000127184	85913721	85916779	ENSP00000422012	COX7C	1	-	-	-	-13bp 3'_splice_site	rs144353141	-	-	-	-	-	-	het	4
14	5	85915202	G	A	ENST00000247655	ENSG00000127184	85913721	85916779	ENSP00000247655	COX7C	1	COX7C_HUMAN	c.108G>A	p.S36S	syn	rs147693864	-	A=5/G=8595;A=1/G=4405;A=6/G=13000	-	-	-	-	het	12
15	5	85915202	G	A	ENST00000247655	ENSG00000127184	85913721	85916779	ENSP00000247655	COX7C	1	COX7C_HUMAN	c.108G>A	p.S36S	syn	rs147693864	-	A=5/G=8595;A=1/G=4405;A=6/G=13000	-	-	-	-	hom	1
16	5	85915202	G	A	ENST00000505430	ENSG00000127184	85913721	85916779	-	COX7C	1	-	c.146G>A	p.R49H	non-syn	rs147693864	-	A=5/G=8595;A=1/G=4405;A=6/G=13000	-	-	-	-	het	12
17	5	85915202	G	A	ENST00000505430	ENSG00000127184	85913721	85916779	-	COX7C	1	-	c.146G>A	p.R49H	non-syn	rs147693864	-	A=5/G=8595;A=1/G=4405;A=6/G=13000	-	-	-	-	hom	1
18	5	85915202	G	A	ENST00000509578	ENSG00000127184	85913721	85916779	ENSP00000425759	COX7C	1	COX7C_HUMAN	c.108G>A	p.S36S	syn	rs147693864	-	A=5/G=8595;A=1/G=4405;A=6/G=13000	-	-	-	-	het	12
19	5	85915202	G	A	ENST00000509578	ENSG00000127184	85913721	85916779	ENSP00000425759	COX7C	1	COX7C_HUMAN	c.108G>A	p.S36S	syn	rs147693864	-	A=5/G=8595;A=1/G=4405;A=6/G=13000	-	-	-	-	hom	1
20	5	85915202	G	A	ENST00000510447	ENSG00000127184	85913721	85916779	-	COX7C	1	-	c.189G>A	p.S63S	syn	rs147693864	-	A=5/G=8595;A=1/G=4405;A=6/G=13000	-	-	-	-	het	12

** 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.

As MSeqDR registered user , your accessible protected data set after login:

Select a dataset from the above drop-down list,
**click here to view variant details for this gene in selected data set**,
and click "Export" button to save as csv.

Transcripts and variants in the surrounding COX7C 5:85913721..85916779 region Gbrowse