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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 COX7A2:

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
ENSG00000112695	COX7A2	1	0	0	ENSG00000112695	ENST00000370081	ENSP00000359098	cytochrome c oxidase subunit VIIa polypeptide 2 (liver) [Source:HGNC Symbol;Acc:2288]	6	75947391	75960039	-1	q14.1	75947391	75960039	COX7A2	COX7A2-002	HGNC Symbol	HGNC transcript name	9	40.34	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	1347	2288	COX7A2		27515

MSeqDR Master Exome Data Set M1: 94 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	6	75947487	A	G	ENST00000230459	ENSG00000112695	75947391	75960039	ENSP00000230459	COX7A2	-1	CX7A2_HUMAN	-	-	3'_UTR	rs113430068	0.0187	-	-	-	-	-	het	2
2	6	75947487	A	G	ENST00000370081	ENSG00000112695	75947391	75960039	ENSP00000359098	COX7A2	-1	-	-	-	3'_UTR	rs113430068	0.0187	-	-	-	-	-	het	2
3	6	75947487	A	G	ENST00000370089	ENSG00000112695	75947391	75960039	ENSP00000359106	COX7A2	-1	-	-	-	3'_UTR	rs113430068	0.0187	-	-	-	-	-	het	2
4	6	75947573	G	A	ENST00000230459	ENSG00000112695	75947391	75960039	ENSP00000230459	COX7A2	-1	CX7A2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
5	6	75947573	G	A	ENST00000370081	ENSG00000112695	75947391	75960039	ENSP00000359098	COX7A2	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
6	6	75947573	G	A	ENST00000370089	ENSG00000112695	75947391	75960039	ENSP00000359106	COX7A2	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
7	6	75947573	G	A	ENST00000459637	ENSG00000112695	75947391	75960039	ENSP00000421969	COX7A2	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
8	6	75947573	G	A	ENST00000460985	ENSG00000112695	75947391	75960039	ENSP00000422979	COX7A2	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
9	6	75947573	G	A	ENST00000472311	ENSG00000112695	75947391	75960039	ENSP00000423432	COX7A2	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
10	6	75947573	G	A	ENST00000509698	ENSG00000112695	75947391	75960039	ENSP00000425951	COX7A2	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
11	6	75947573	G	T	ENST00000230459	ENSG00000112695	75947391	75960039	ENSP00000230459	COX7A2	-1	CX7A2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
12	6	75947573	G	T	ENST00000370081	ENSG00000112695	75947391	75960039	ENSP00000359098	COX7A2	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
13	6	75947573	G	T	ENST00000370089	ENSG00000112695	75947391	75960039	ENSP00000359106	COX7A2	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
14	6	75947573	G	T	ENST00000459637	ENSG00000112695	75947391	75960039	ENSP00000421969	COX7A2	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
15	6	75947573	G	T	ENST00000460985	ENSG00000112695	75947391	75960039	ENSP00000422979	COX7A2	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
16	6	75947573	G	T	ENST00000472311	ENSG00000112695	75947391	75960039	ENSP00000423432	COX7A2	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
17	6	75947573	G	T	ENST00000509698	ENSG00000112695	75947391	75960039	ENSP00000425951	COX7A2	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
18	6	75947598	T	C	ENST00000230459	ENSG00000112695	75947391	75960039	ENSP00000230459	COX7A2	-1	CX7A2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
19	6	75947598	T	C	ENST00000370081	ENSG00000112695	75947391	75960039	ENSP00000359098	COX7A2	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
20	6	75947598	T	C	ENST00000370089	ENSG00000112695	75947391	75960039	ENSP00000359106	COX7A2	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3

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Transcripts and variants in the surrounding COX7A2 6:75947391..75960039 region Gbrowse