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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 EYS:

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
ENSG00000188107	EYS	0	0	93	ENSG00000188107	ENST00000503581	ENSP00000424243	eyes shut homolog (Drosophila) [Source:HGNC Symbol;Acc:21555]	6	64429876	66417118	-1	q12	64429876	66417118	EYS	EYS-012	HGNC Symbol	HGNC transcript name	13	35.06	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	346007	21555	EYS	NM_001142800	27515

MSeqDR Master Exome Data Set M1: 786 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	64429963	T	G	ENST00000503581	ENSG00000188107	64429876	66417118	ENSP00000424243	EYS	-1	EYS_HUMAN	-	-	3'_UTR	rs193035948	0.0045	-	-	-	-	-	het	2
2	6	64430438	C	+T	ENST00000370621	ENSG00000188107	64429876	66417118	ENSP00000359655	EYS	-1	EYS_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
3	6	64430438	C	+T	ENST00000503581	ENSG00000188107	64429876	66417118	ENSP00000424243	EYS	-1	EYS_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
4	6	64430690	T	C	ENST00000370616	ENSG00000188107	64429876	66417118	ENSP00000359650	EYS	-1	EYS_HUMAN	c.9300A>G	p.L3100L	syn	rs139944387	0.0067	-	lod=91:451	-	-	-	het	1
5	6	64430690	T	C	ENST00000370621	ENSG00000188107	64429876	66417118	ENSP00000359655	EYS	-1	EYS_HUMAN	c.9300A>G	p.L3100L	syn	rs139944387	0.0067	-	lod=91:451	-	-	-	het	1
6	6	64430690	T	C	ENST00000503581	ENSG00000188107	64429876	66417118	ENSP00000424243	EYS	-1	EYS_HUMAN	c.9237A>G	p.L3079L	syn	rs139944387	0.0067	-	lod=91:451	-	-	-	het	1
7	6	64430692	G	C	ENST00000370616	ENSG00000188107	64429876	66417118	ENSP00000359650	EYS	-1	EYS_HUMAN	c.9298C>G	p.L3100V	non-syn	NA	-	-	lod=91:451	DAMAGING	-	-	het	1
8	6	64430692	G	C	ENST00000370621	ENSG00000188107	64429876	66417118	ENSP00000359655	EYS	-1	EYS_HUMAN	c.9298C>G	p.L3100V	non-syn	NA	-	-	lod=91:451	DAMAGING	-	-	het	1
9	6	64430692	G	C	ENST00000503581	ENSG00000188107	64429876	66417118	ENSP00000424243	EYS	-1	EYS_HUMAN	c.9235C>G	p.L3079V	non-syn	NA	-	-	lod=91:451	DAMAGING	-	-	het	1
10	6	64430718	A	G	ENST00000370616	ENSG00000188107	64429876	66417118	ENSP00000359650	EYS	-1	EYS_HUMAN	c.9272T>C	p.I3091T	non-syn	rs183589498	0.0011	-	lod=58:403	DAMAGING	-	-	het	3
11	6	64430718	A	G	ENST00000370621	ENSG00000188107	64429876	66417118	ENSP00000359655	EYS	-1	EYS_HUMAN	c.9272T>C	p.I3091T	non-syn	rs183589498	0.0011	-	lod=58:403	DAMAGING	-	-	het	3
12	6	64430718	A	G	ENST00000503581	ENSG00000188107	64429876	66417118	ENSP00000424243	EYS	-1	EYS_HUMAN	c.9209T>C	p.I3070T	non-syn	rs183589498	0.0011	-	lod=58:403	DAMAGING	-	-	het	3
13	6	64430890	G	-A	ENST00000370616	ENSG00000188107	64429876	66417118	ENSP00000359650	EYS	-1	EYS_HUMAN	c.9099_9099del	p.G3033NA	non-syn	NA	-	-	lod=275:569	-	-	-	het	3
14	6	64430890	G	-A	ENST00000370621	ENSG00000188107	64429876	66417118	ENSP00000359655	EYS	-1	EYS_HUMAN	c.9099_9099del	p.G3033NA	non-syn	NA	-	-	lod=275:569	-	-	-	het	3
15	6	64430890	G	-A	ENST00000503581	ENSG00000188107	64429876	66417118	ENSP00000424243	EYS	-1	EYS_HUMAN	c.9036_9036del	p.G3012NA	non-syn	NA	-	-	lod=275:569	-	-	-	het	3
16	6	64430897	T	C	ENST00000370616	ENSG00000188107	64429876	66417118	ENSP00000359650	EYS	-1	EYS_HUMAN	c.9093A>G	p.A3031A	syn	rs61754905	0.0269	C=0/T=3180;C=47/T=1337;C=47/T=4517	lod=275:569	-	-	-	het	1
17	6	64430897	T	C	ENST00000370621	ENSG00000188107	64429876	66417118	ENSP00000359655	EYS	-1	EYS_HUMAN	c.9093A>G	p.A3031A	syn	rs61754905	0.0269	C=0/T=3180;C=47/T=1337;C=47/T=4517	lod=275:569	-	-	-	het	1
18	6	64430897	T	C	ENST00000503581	ENSG00000188107	64429876	66417118	ENSP00000424243	EYS	-1	EYS_HUMAN	c.9030A>G	p.A3010A	syn	rs61754905	0.0269	C=0/T=3180;C=47/T=1337;C=47/T=4517	lod=275:569	-	-	-	het	1
19	6	64430906	A	-TCATTTTCT	ENST00000370616	ENSG00000188107	64429876	66417118	ENSP00000359650	EYS	-1	EYS_HUMAN	c.9075_9083del	p.D3028NA	non-syn	NA	-	-	lod=275:569	-	-	-	het	1
20	6	64430906	A	-TCATTTTCT	ENST00000370621	ENSG00000188107	64429876	66417118	ENSP00000359655	EYS	-1	EYS_HUMAN	c.9075_9083del	p.D3028NA	non-syn	NA	-	-	lod=275:569	-	-	-	het	1

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Transcripts and variants in the surrounding EYS 6:64429876..66417118 region Gbrowse