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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 COX5A:

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
ENSG00000178741	COX5A	1	1	0	ENSG00000178741	ENST00000322347	ENSP00000317780	cytochrome c oxidase subunit Va [Source:HGNC Symbol;Acc:2267]	15	75212132	75230509	-1	q24.2	75212132	75230509	COX5A	COX5A-001	HGNC Symbol	HGNC transcript name	6	44.93	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	9377	2267	COX5A	NM_004255	27521

MSeqDR Master Exome Data Set M1: 33 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	15	75221491	G	A	ENST00000322347	ENSG00000178741	75212132	75230509	ENSP00000317780	COX5A	-1	COX5A_HUMAN	c.183C>T	p.N61N	syn	NA	-	-	lod=583:650	-	-	-	het	1
2	15	75221491	G	A	ENST00000562233	ENSG00000178741	75212132	75230509	ENSP00000456253	COX5A	-1	-	c.183C>T	p.N61N	syn	NA	-	-	lod=583:650	-	-	-	het	1
3	15	75221491	G	A	ENST00000564811	ENSG00000178741	75212132	75230509	ENSP00000456386	COX5A	-1	COX5A_HUMAN	c.183C>T	p.N61N	syn	NA	-	-	lod=583:650	-	-	-	het	1
4	15	75221491	G	A	ENST00000568517	ENSG00000178741	75212132	75230509	ENSP00000456314	COX5A	-1	-	-	-	5'_UTR	NA	-	-	lod=583:650	-	-	-	het	1
5	15	75221491	G	A	ENST00000568783	ENSG00000178741	75212132	75230509	ENSP00000455053	COX5A	-1	-	c.183C>T	p.N61N	syn	NA	-	-	lod=583:650	-	-	-	het	1
6	15	75221542	C	T	ENST00000322347	ENSG00000178741	75212132	75230509	ENSP00000317780	COX5A	-1	COX5A_HUMAN	c.132G>A	p.G44G	syn	rs143289611	0.0028	-	lod=583:650	-	-	-	het	3
7	15	75221542	C	T	ENST00000562233	ENSG00000178741	75212132	75230509	ENSP00000456253	COX5A	-1	-	c.132G>A	p.G44G	syn	rs143289611	0.0028	-	lod=583:650	-	-	-	het	3
8	15	75221542	C	T	ENST00000564811	ENSG00000178741	75212132	75230509	ENSP00000456386	COX5A	-1	COX5A_HUMAN	c.132G>A	p.G44G	syn	rs143289611	0.0028	-	lod=583:650	-	-	-	het	3
9	15	75221542	C	T	ENST00000568517	ENSG00000178741	75212132	75230509	ENSP00000456314	COX5A	-1	-	-	-	5'_UTR	rs143289611	0.0028	-	lod=583:650	-	-	-	het	3
10	15	75221542	C	T	ENST00000568783	ENSG00000178741	75212132	75230509	ENSP00000455053	COX5A	-1	-	c.132G>A	p.G44G	syn	rs143289611	0.0028	-	lod=583:650	-	-	-	het	3
11	15	75230243	G	A	ENST00000322347	ENSG00000178741	75212132	75230509	ENSP00000317780	COX5A	-1	COX5A_HUMAN	-	-	+13bp 5'_splice_site	NA	-	-	-	-	-	-	het	7
12	15	75230243	G	A	ENST00000562233	ENSG00000178741	75212132	75230509	ENSP00000456253	COX5A	-1	-	-	-	+13bp 5'_splice_site	NA	-	-	-	-	-	-	het	7
13	15	75230243	G	A	ENST00000564811	ENSG00000178741	75212132	75230509	ENSP00000456386	COX5A	-1	COX5A_HUMAN	-	-	+13bp 5'_splice_site	NA	-	-	-	-	-	-	het	7
14	15	75230243	G	A	ENST00000567270	ENSG00000178741	75212132	75230509	ENSP00000457974	COX5A	-1	-	-	-	+13bp 5'_splice_site	NA	-	-	-	-	-	-	het	7
15	15	75230243	G	A	ENST00000568783	ENSG00000178741	75212132	75230509	ENSP00000455053	COX5A	-1	-	-	-	+13bp 5'_splice_site	NA	-	-	-	-	-	-	het	7
16	15	75230282	G	C	ENST00000322347	ENSG00000178741	75212132	75230509	ENSP00000317780	COX5A	-1	COX5A_HUMAN	c.74C>G	p.S25C	non-syn	rs200367305	-	-	-	TOLERATED	B	-	het	4
17	15	75230282	G	C	ENST00000562233	ENSG00000178741	75212132	75230509	ENSP00000456253	COX5A	-1	-	c.74C>G	p.S25C	non-syn	rs200367305	-	-	-	TOLERATED	B	-	het	4
18	15	75230282	G	C	ENST00000564811	ENSG00000178741	75212132	75230509	ENSP00000456386	COX5A	-1	COX5A_HUMAN	c.74C>G	p.S25C	non-syn	rs200367305	-	-	-	TOLERATED	B	-	het	4
19	15	75230282	G	C	ENST00000567270	ENSG00000178741	75212132	75230509	ENSP00000457974	COX5A	-1	-	c.74C>G	p.S25C	non-syn	rs200367305	-	-	-	TOLERATED	B	-	het	4
20	15	75230282	G	C	ENST00000568783	ENSG00000178741	75212132	75230509	ENSP00000455053	COX5A	-1	-	c.74C>G	p.S25C	non-syn	rs200367305	-	-	-	TOLERATED	B	-	het	4

** 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 COX5A 15:75212132..75230509 region Gbrowse