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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 COX7A1:

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
ENSG00000161281	COX7A1	1	0	0	ENSG00000161281	ENST00000437291	ENSP00000475885	cytochrome c oxidase subunit VIIa polypeptide 1 (muscle) [Source:HGNC Symbol;Acc:2287]	19	36641824	36643771	-1	q13.12	36641824	36642927	COX7A1	COX7A1-003	HGNC Symbol	HGNC transcript name	4	63.14	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	PUTATIVE	1346	2287	COX7A1		27526

MSeqDR Master Exome Data Set M1: 59 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	19	36641932	A	G	ENST00000292907	ENSG00000161281	36641824	36643771	ENSP00000292907	COX7A1	-1	CX7A1_HUMAN	c.192T>C	p.T64T	syn	rs1803370	0.0045	G=8/A=8592;G=0/A=4406;G=8/A=12998	lod=19:284	-	-	-	het	11
2	19	36641932	A	G	ENST00000292907	ENSG00000161281	36641824	36643771	ENSP00000292907	COX7A1	-1	CX7A1_HUMAN	c.192T>C	p.T64T	syn	rs1803370	0.0045	G=8/A=8592;G=0/A=4406;G=8/A=12998	lod=19:284	-	-	-	hom	1
3	19	36641932	A	G	ENST00000437291	ENSG00000161281	36641824	36643771	-	COX7A1	-1	-	c.299T>C	p.L100P	non-syn	rs1803370	0.0045	G=8/A=8592;G=0/A=4406;G=8/A=12998	lod=19:284	-	-	-	het	11
4	19	36641932	A	G	ENST00000437291	ENSG00000161281	36641824	36643771	-	COX7A1	-1	-	c.299T>C	p.L100P	non-syn	rs1803370	0.0045	G=8/A=8592;G=0/A=4406;G=8/A=12998	lod=19:284	-	-	-	hom	1
5	19	36641932	A	G	ENST00000481297	ENSG00000161281	36641824	36643771	-	COX7A1	-1	-	c.356T>C	p.L119P	non-syn	rs1803370	0.0045	G=8/A=8592;G=0/A=4406;G=8/A=12998	lod=19:284	-	-	-	het	11
6	19	36641932	A	G	ENST00000481297	ENSG00000161281	36641824	36643771	-	COX7A1	-1	-	c.356T>C	p.L119P	non-syn	rs1803370	0.0045	G=8/A=8592;G=0/A=4406;G=8/A=12998	lod=19:284	-	-	-	hom	1
7	19	36641932	A	G	ENST00000589154	ENSG00000161281	36641824	36643771	ENSP00000468063	COX7A1	-1	-	c.194T>C	p.L65P	non-syn	rs1803370	0.0045	G=8/A=8592;G=0/A=4406;G=8/A=12998	lod=19:284	-	-	-	het	11
8	19	36641932	A	G	ENST00000589154	ENSG00000161281	36641824	36643771	ENSP00000468063	COX7A1	-1	-	c.194T>C	p.L65P	non-syn	rs1803370	0.0045	G=8/A=8592;G=0/A=4406;G=8/A=12998	lod=19:284	-	-	-	hom	1
9	19	36642348	C	G	ENST00000292907	ENSG00000161281	36641824	36643771	ENSP00000292907	COX7A1	-1	CX7A1_HUMAN	-	-	+16bp 5'_splice_site	NA	-	G=1/C=8599;G=0/C=4406;G=1/C=13005	-	-	-	-	het	3
10	19	36642348	C	G	ENST00000437291	ENSG00000161281	36641824	36643771	-	COX7A1	-1	-	-	-	+16bp 5'_splice_site	NA	-	G=1/C=8599;G=0/C=4406;G=1/C=13005	-	-	-	-	het	3
11	19	36642348	C	G	ENST00000481297	ENSG00000161281	36641824	36643771	-	COX7A1	-1	-	-	-	+16bp 5'_splice_site	NA	-	G=1/C=8599;G=0/C=4406;G=1/C=13005	-	-	-	-	het	3
12	19	36642348	C	G	ENST00000589154	ENSG00000161281	36641824	36643771	ENSP00000468063	COX7A1	-1	-	-	-	+16bp 5'_splice_site	NA	-	G=1/C=8599;G=0/C=4406;G=1/C=13005	-	-	-	-	het	3
13	19	36642349	G	C	ENST00000292907	ENSG00000161281	36641824	36643771	ENSP00000292907	COX7A1	-1	CX7A1_HUMAN	-	-	+15bp 5'_splice_site	rs80050273	0.013	C=184/G=8416;C=25/G=4381;C=209/G=12797	-	-	-	-	het	17
14	19	36642349	G	C	ENST00000437291	ENSG00000161281	36641824	36643771	-	COX7A1	-1	-	-	-	+15bp 5'_splice_site	rs80050273	0.013	C=184/G=8416;C=25/G=4381;C=209/G=12797	-	-	-	-	het	17
15	19	36642349	G	C	ENST00000481297	ENSG00000161281	36641824	36643771	-	COX7A1	-1	-	-	-	+15bp 5'_splice_site	rs80050273	0.013	C=184/G=8416;C=25/G=4381;C=209/G=12797	-	-	-	-	het	17
16	19	36642349	G	C	ENST00000589154	ENSG00000161281	36641824	36643771	ENSP00000468063	COX7A1	-1	-	-	-	+15bp 5'_splice_site	rs80050273	0.013	C=184/G=8416;C=25/G=4381;C=209/G=12797	-	-	-	-	het	17
17	19	36642554	C	T	ENST00000292907	ENSG00000161281	36641824	36643771	ENSP00000292907	COX7A1	-1	CX7A1_HUMAN	-	-	+17bp 5'_splice_site	rs2285598	-	G=103/C=8121;G=523/C=3663;G=626/C=11784	-	-	-	-	het	1
18	19	36642554	C	T	ENST00000292907	ENSG00000161281	36641824	36643771	ENSP00000292907	COX7A1	-1	CX7A1_HUMAN	-	-	+17bp 5'_splice_site	rs2285598	-	G=103/C=8121;G=523/C=3663;G=626/C=11784	-	-	-	-	hom	1
19	19	36642554	C	T	ENST00000437291	ENSG00000161281	36641824	36643771	-	COX7A1	-1	-	-	-	+17bp 5'_splice_site	rs2285598	-	G=103/C=8121;G=523/C=3663;G=626/C=11784	-	-	-	-	het	1
20	19	36642554	C	T	ENST00000437291	ENSG00000161281	36641824	36643771	-	COX7A1	-1	-	-	-	+17bp 5'_splice_site	rs2285598	-	G=103/C=8121;G=523/C=3663;G=626/C=11784	-	-	-	-	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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Transcripts and variants in the surrounding COX7A1 19:36641824..36643771 region Gbrowse