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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 COX7A2L:

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
ENSG00000115944	COX7A2L	1	0	0	ENSG00000115944	ENST00000468711	ENSP00000429237	cytochrome c oxidase subunit VIIa polypeptide 2 like [Source:HGNC Symbol;Acc:2289]	2	42560686	42652228	-1	p21	42560686	42588289	COX7A2L	COX7A2L-008	HGNC Symbol	HGNC transcript name	8	44	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	PUTATIVE	9167	2289	COX7A2L		27508

MSeqDR Master Exome Data Set M1: 105 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	2	42560804	T	G	ENST00000468711	ENSG00000115944	42560686	42652228	ENSP00000429237	COX7A2L	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
2	2	42560866	G	A	ENST00000468711	ENSG00000115944	42560686	42652228	ENSP00000429237	COX7A2L	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
3	2	42560896	C	T	ENST00000468711	ENSG00000115944	42560686	42652228	ENSP00000429237	COX7A2L	-1	-	-	-	3'_UTR	rs77138769	0.0132	-	-	-	-	-	het	1
4	2	42560903	C	A	ENST00000468711	ENSG00000115944	42560686	42652228	ENSP00000429237	COX7A2L	-1	-	-	-	3'_UTR	rs140668717	0.00279	-	-	-	-	-	het	9
5	2	42560962	T	C	ENST00000468711	ENSG00000115944	42560686	42652228	ENSP00000429237	COX7A2L	-1	-	c.240A>G	p.P80P	syn	NA	-	-	-	-	-	-	het	2
6	2	42560973	G	C	ENST00000468711	ENSG00000115944	42560686	42652228	ENSP00000429237	COX7A2L	-1	-	c.229C>G	p.L77V	non-syn	NA	-	-	-	-	-	-	het	1
7	2	42560975	A	G	ENST00000468711	ENSG00000115944	42560686	42652228	ENSP00000429237	COX7A2L	-1	-	c.227T>C	p.L76P	non-syn	rs7572231	0.6346	-	-	-	-	-	het	330
8	2	42560975	A	G	ENST00000468711	ENSG00000115944	42560686	42652228	ENSP00000429237	COX7A2L	-1	-	c.227T>C	p.L76P	non-syn	rs7572231	0.6346	-	-	-	-	-	hom	211
9	2	42576498	A	C	ENST00000378669	ENSG00000115944	42560686	42652228	ENSP00000367938	COX7A2L	-1	COX7R_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	5
10	2	42576541	G	T	ENST00000378669	ENSG00000115944	42560686	42652228	ENSP00000367938	COX7A2L	-1	COX7R_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
11	2	42576624	G	A	ENST00000378669	ENSG00000115944	42560686	42652228	ENSP00000367938	COX7A2L	-1	COX7R_HUMAN	-	-	3'_UTR	rs143248644	0.0084	-	-	-	-	-	het	1
12	2	42576842	T	G	ENST00000378669	ENSG00000115944	42560686	42652228	ENSP00000367938	COX7A2L	-1	COX7R_HUMAN	-	-	3'_UTR	rs182010504	0.0108	-	-	-	-	-	het	1
13	2	42576958	A	G	ENST00000378669	ENSG00000115944	42560686	42652228	ENSP00000367938	COX7A2L	-1	COX7R_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
14	2	42577005	A	G	ENST00000378669	ENSG00000115944	42560686	42652228	ENSP00000367938	COX7A2L	-1	COX7R_HUMAN	-	-	3'_UTR	rs142049617	0.00633	-	-	-	-	-	het	4
15	2	42577170	A	G	ENST00000378669	ENSG00000115944	42560686	42652228	ENSP00000367938	COX7A2L	-1	COX7R_HUMAN	-	-	3'_UTR	rs1981664	0.51589	-	-	-	-	-	het	331
16	2	42577170	A	G	ENST00000378669	ENSG00000115944	42560686	42652228	ENSP00000367938	COX7A2L	-1	COX7R_HUMAN	-	-	3'_UTR	rs1981664	0.51589	-	-	-	-	-	hom	205
17	2	42577201	C	+AG	ENST00000378669	ENSG00000115944	42560686	42652228	ENSP00000367938	COX7A2L	-1	COX7R_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
18	2	42577219	G	T	ENST00000378669	ENSG00000115944	42560686	42652228	ENSP00000367938	COX7A2L	-1	COX7R_HUMAN	-	-	3'_UTR	rs113234148	0.028	-	-	-	-	-	het	3
19	2	42577220	A	G	ENST00000378669	ENSG00000115944	42560686	42652228	ENSP00000367938	COX7A2L	-1	COX7R_HUMAN	-	-	3'_UTR	rs75853605	-	-	-	-	-	-	het	2
20	2	42577220	A	+GG	ENST00000378669	ENSG00000115944	42560686	42652228	ENSP00000367938	COX7A2L	-1	COX7R_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	293

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Transcripts and variants in the surrounding COX7A2L 2:42560686..42652228 region Gbrowse