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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 OPTN:

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
ENSG00000123240	OPTN	0	0	9	ENSG00000123240	ENST00000263036	ENSP00000263036	optineurin [Source:HGNC Symbol;Acc:17142]	10	13141449	13180291	1	p13	13141449	13178923	OPTN	OPTN-006	HGNC Symbol	HGNC transcript name	12	42.41	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	10133	17142	OPTN		27525

MSeqDR Master Exome Data Set M1: 240 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	10	13142251	G	A	ENST00000378747	ENSG00000123240	13141449	13180291	ENSP00000368021	OPTN	1	OPTN_HUMAN	-	-	5'_UTR	rs11548142	0.2718	-	-	-	-	-	het	3
2	10	13142251	G	A	ENST00000378748	ENSG00000123240	13141449	13180291	ENSP00000368022	OPTN	1	OPTN_HUMAN	-	-	5'_UTR	rs11548142	0.2718	-	-	-	-	-	het	3
3	10	13142251	G	A	ENST00000378752	ENSG00000123240	13141449	13180291	ENSP00000368027	OPTN	1	OPTN_HUMAN	-	-	5'_UTR	rs11548142	0.2718	-	-	-	-	-	het	3
4	10	13142251	G	A	ENST00000378757	ENSG00000123240	13141449	13180291	ENSP00000368032	OPTN	1	OPTN_HUMAN	-	-	5'_UTR	rs11548142	0.2718	-	-	-	-	-	het	3
5	10	13142251	G	A	ENST00000430081	ENSG00000123240	13141449	13180291	ENSP00000414747	OPTN	1	OPTN_HUMAN	-	-	5'_UTR	rs11548142	0.2718	-	-	-	-	-	het	3
6	10	13142251	G	A	ENST00000482140	ENSG00000123240	13141449	13180291	-	OPTN	1	-	c.89G>A	p.R30Q	non-syn	rs11548142	0.2718	-	-	-	-	-	het	3
7	10	13142251	G	A	ENST00000487935	ENSG00000123240	13141449	13180291	-	OPTN	1	-	c.93G>A	p.A31A	syn	rs11548142	0.2718	-	-	-	-	-	het	3
8	10	13151224	G	A	ENST00000263036	ENSG00000123240	13141449	13180291	ENSP00000263036	OPTN	1	OPTN_HUMAN	c.102G>A	p.T34T	syn	rs2234968	0.25	A=2360/G=6240;A=258/G=4148;A=2618/G=10388	lod=19:284	-	-	Glaucoma, open angle, association with	het	355
9	10	13151224	G	A	ENST00000263036	ENSG00000123240	13141449	13180291	ENSP00000263036	OPTN	1	OPTN_HUMAN	c.102G>A	p.T34T	syn	rs2234968	0.25	A=2360/G=6240;A=258/G=4148;A=2618/G=10388	lod=19:284	-	-	Glaucoma, open angle, association with	hom	79
10	10	13151224	G	A	ENST00000378747	ENSG00000123240	13141449	13180291	ENSP00000368021	OPTN	1	OPTN_HUMAN	c.102G>A	p.T34T	syn	rs2234968	0.25	A=2360/G=6240;A=258/G=4148;A=2618/G=10388	lod=19:284	-	-	Glaucoma, open angle, association with	het	355
11	10	13151224	G	A	ENST00000378747	ENSG00000123240	13141449	13180291	ENSP00000368021	OPTN	1	OPTN_HUMAN	c.102G>A	p.T34T	syn	rs2234968	0.25	A=2360/G=6240;A=258/G=4148;A=2618/G=10388	lod=19:284	-	-	Glaucoma, open angle, association with	hom	79
12	10	13151224	G	A	ENST00000378748	ENSG00000123240	13141449	13180291	ENSP00000368022	OPTN	1	OPTN_HUMAN	c.102G>A	p.T34T	syn	rs2234968	0.25	A=2360/G=6240;A=258/G=4148;A=2618/G=10388	lod=19:284	-	-	Glaucoma, open angle, association with	het	355
13	10	13151224	G	A	ENST00000378748	ENSG00000123240	13141449	13180291	ENSP00000368022	OPTN	1	OPTN_HUMAN	c.102G>A	p.T34T	syn	rs2234968	0.25	A=2360/G=6240;A=258/G=4148;A=2618/G=10388	lod=19:284	-	-	Glaucoma, open angle, association with	hom	79
14	10	13151224	G	A	ENST00000378752	ENSG00000123240	13141449	13180291	ENSP00000368027	OPTN	1	OPTN_HUMAN	c.102G>A	p.T34T	syn	rs2234968	0.25	A=2360/G=6240;A=258/G=4148;A=2618/G=10388	lod=19:284	-	-	Glaucoma, open angle, association with	het	355
15	10	13151224	G	A	ENST00000378752	ENSG00000123240	13141449	13180291	ENSP00000368027	OPTN	1	OPTN_HUMAN	c.102G>A	p.T34T	syn	rs2234968	0.25	A=2360/G=6240;A=258/G=4148;A=2618/G=10388	lod=19:284	-	-	Glaucoma, open angle, association with	hom	79
16	10	13151224	G	A	ENST00000378757	ENSG00000123240	13141449	13180291	ENSP00000368032	OPTN	1	OPTN_HUMAN	c.102G>A	p.T34T	syn	rs2234968	0.25	A=2360/G=6240;A=258/G=4148;A=2618/G=10388	lod=19:284	-	-	Glaucoma, open angle, association with	het	355
17	10	13151224	G	A	ENST00000378757	ENSG00000123240	13141449	13180291	ENSP00000368032	OPTN	1	OPTN_HUMAN	c.102G>A	p.T34T	syn	rs2234968	0.25	A=2360/G=6240;A=258/G=4148;A=2618/G=10388	lod=19:284	-	-	Glaucoma, open angle, association with	hom	79
18	10	13151224	G	A	ENST00000378764	ENSG00000123240	13141449	13180291	ENSP00000368040	OPTN	1	OPTN_HUMAN	c.102G>A	p.T34T	syn	rs2234968	0.25	A=2360/G=6240;A=258/G=4148;A=2618/G=10388	lod=19:284	-	-	Glaucoma, open angle, association with	het	355
19	10	13151224	G	A	ENST00000378764	ENSG00000123240	13141449	13180291	ENSP00000368040	OPTN	1	OPTN_HUMAN	c.102G>A	p.T34T	syn	rs2234968	0.25	A=2360/G=6240;A=258/G=4148;A=2618/G=10388	lod=19:284	-	-	Glaucoma, open angle, association with	hom	79
20	10	13151224	G	A	ENST00000430081	ENSG00000123240	13141449	13180291	ENSP00000414747	OPTN	1	OPTN_HUMAN	-	-	5'_UTR	rs2234968	0.25	A=2360/G=6240;A=258/G=4148;A=2618/G=10388	lod=19:284	-	-	Glaucoma, open angle, association with	het	355

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Transcripts and variants in the surrounding OPTN 10:13141449..13180291 region Gbrowse