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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 OPA1:

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
ENSG00000198836	OPA1	1	95	101	ENSG00000198836	ENST00000483516		optic atrophy 1 (autosomal dominant) [Source:HGNC Symbol;Acc:8140]	3	193310933	193415612	1	q29	193363401	193366249	OPA1	OPA1-008	HGNC Symbol	HGNC transcript name	19	36.98	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	4976	8140	OPA1		27517

MSeqDR Master Exome Data Set M1: 516 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	3	193310995	T	A	ENST00000361150	ENSG00000198836	193310933	193415612	ENSP00000354781	OPA1	1	-	-	-	5'_UTR	rs146295726	0.0049	-	-	-	-	-	het	1
2	3	193310995	T	A	ENST00000361510	ENSG00000198836	193310933	193415612	ENSP00000355324	OPA1	1	-	-	-	5'_UTR	rs146295726	0.0049	-	-	-	-	-	het	1
3	3	193310995	T	A	ENST00000361715	ENSG00000198836	193310933	193415612	ENSP00000355311	OPA1	1	-	-	-	5'_UTR	rs146295726	0.0049	-	-	-	-	-	het	1
4	3	193310995	T	A	ENST00000361828	ENSG00000198836	193310933	193415612	ENSP00000354429	OPA1	1	-	-	-	5'_UTR	rs146295726	0.0049	-	-	-	-	-	het	1
5	3	193310995	T	A	ENST00000361908	ENSG00000198836	193310933	193415612	ENSP00000354681	OPA1	1	OPA1_HUMAN	-	-	5'_UTR	rs146295726	0.0049	-	-	-	-	-	het	1
6	3	193310995	T	A	ENST00000392438	ENSG00000198836	193310933	193415612	ENSP00000376233	OPA1	1	OPA1_HUMAN	-	-	5'_UTR	rs146295726	0.0049	-	-	-	-	-	het	1
7	3	193311157	C	T	ENST00000361150	ENSG00000198836	193310933	193415612	ENSP00000354781	OPA1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
8	3	193311157	C	T	ENST00000361510	ENSG00000198836	193310933	193415612	ENSP00000355324	OPA1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
9	3	193311157	C	T	ENST00000361715	ENSG00000198836	193310933	193415612	ENSP00000355311	OPA1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
10	3	193311157	C	T	ENST00000361828	ENSG00000198836	193310933	193415612	ENSP00000354429	OPA1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
11	3	193311157	C	T	ENST00000361908	ENSG00000198836	193310933	193415612	ENSP00000354681	OPA1	1	OPA1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
12	3	193311157	C	T	ENST00000392436	ENSG00000198836	193310933	193415612	ENSP00000376231	OPA1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
13	3	193311157	C	T	ENST00000392437	ENSG00000198836	193310933	193415612	ENSP00000376232	OPA1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
14	3	193311157	C	T	ENST00000392438	ENSG00000198836	193310933	193415612	ENSP00000376233	OPA1	1	OPA1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
15	3	193311157	C	T	ENST00000419435	ENSG00000198836	193310933	193415612	ENSP00000399877	OPA1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
16	3	193332516	G	A	ENST00000361150	ENSG00000198836	193310933	193415612	ENSP00000354781	OPA1	1	-	c.37G>A	p.V13I	non-syn	NA	-	A=1/G=8599;A=0/G=4406;A=1/G=13005	lod=112:473	TOLERATED	NA	-	het	1
17	3	193332516	G	A	ENST00000361510	ENSG00000198836	193310933	193415612	ENSP00000355324	OPA1	1	-	c.37G>A	p.V13I	non-syn	NA	-	A=1/G=8599;A=0/G=4406;A=1/G=13005	lod=112:473	TOLERATED	NA	-	het	1
18	3	193332516	G	A	ENST00000361715	ENSG00000198836	193310933	193415612	ENSP00000355311	OPA1	1	-	c.37G>A	p.V13I	non-syn	NA	-	A=1/G=8599;A=0/G=4406;A=1/G=13005	lod=112:473	TOLERATED	NA	-	het	1
19	3	193332516	G	A	ENST00000361828	ENSG00000198836	193310933	193415612	ENSP00000354429	OPA1	1	-	c.37G>A	p.V13I	non-syn	NA	-	A=1/G=8599;A=0/G=4406;A=1/G=13005	lod=112:473	TOLERATED	NA	-	het	1
20	3	193332516	G	A	ENST00000361908	ENSG00000198836	193310933	193415612	ENSP00000354681	OPA1	1	OPA1_HUMAN	c.37G>A	p.V13I	non-syn	NA	-	A=1/G=8599;A=0/G=4406;A=1/G=13005	lod=112:473	TOLERATED	NA	-	het	1

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Transcripts and variants in the surrounding OPA1 3:193310933..193415612 region Gbrowse