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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 EYA4:

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
ENSG00000112319	EYA4	0	0	30	ENSG00000112319	ENST00000452339	ENSP00000395916	eyes absent homolog 4 (Drosophila) [Source:HGNC Symbol;Acc:3522]	6	133561736	133853258	1	q23.2	133561736	133850040	EYA4	EYA4-006	HGNC Symbol	HGNC transcript name	14	36.95	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	NOVEL	2070	3522	EYA4		27515

MSeqDR Master Exome Data Set M1: 363 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	133595902	A	G	ENST00000355167	ENSG00000112319	133561736	133853258	ENSP00000347294	EYA4	1	EYA4_HUMAN	-	-	5'_UTR	rs200947384	-	-	lod=273:569	-	-	-	het	36
2	6	133595902	A	G	ENST00000355286	ENSG00000112319	133561736	133853258	ENSP00000347434	EYA4	1	EYA4_HUMAN	-	-	5'_UTR	rs200947384	-	-	lod=273:569	-	-	-	het	36
3	6	133595902	A	G	ENST00000367895	ENSG00000112319	133561736	133853258	ENSP00000356870	EYA4	1	EYA4_HUMAN	-	-	5'_UTR	rs200947384	-	-	lod=273:569	-	-	-	het	36
4	6	133595902	A	G	ENST00000430974	ENSG00000112319	133561736	133853258	ENSP00000388670	EYA4	1	-	-	-	5'_UTR	rs200947384	-	-	lod=273:569	-	-	-	het	36
5	6	133595902	A	G	ENST00000452339	ENSG00000112319	133561736	133853258	ENSP00000395916	EYA4	1	EYA4_HUMAN	-	-	5'_UTR	rs200947384	-	-	lod=273:569	-	-	-	het	36
6	6	133595902	A	G	ENST00000525849	ENSG00000112319	133561736	133853258	ENSP00000433219	EYA4	1	-	-	-	5'_UTR	rs200947384	-	-	lod=273:569	-	-	-	het	36
7	6	133595902	A	G	ENST00000531901	ENSG00000112319	133561736	133853258	ENSP00000432770	EYA4	1	-	-	-	5'_UTR	rs200947384	-	-	lod=273:569	-	-	-	het	36
8	6	133767787	C	T	ENST00000355167	ENSG00000112319	133561736	133853258	ENSP00000347294	EYA4	1	EYA4_HUMAN	c.103C>T	p.L35L	syn	rs35562371	0.0028	T=0/C=8600;T=92/C=4314;T=92/C=12914	lod=332:590	-	-	-	het	4
9	6	133767787	C	T	ENST00000355286	ENSG00000112319	133561736	133853258	ENSP00000347434	EYA4	1	EYA4_HUMAN	c.103C>T	p.L35L	syn	rs35562371	0.0028	T=0/C=8600;T=92/C=4314;T=92/C=12914	lod=332:590	-	-	-	het	4
10	6	133767787	C	T	ENST00000367895	ENSG00000112319	133561736	133853258	ENSP00000356870	EYA4	1	EYA4_HUMAN	c.103C>T	p.L35L	syn	rs35562371	0.0028	T=0/C=8600;T=92/C=4314;T=92/C=12914	lod=332:590	-	-	-	het	4
11	6	133767787	C	T	ENST00000421413	ENSG00000112319	133561736	133853258	-	EYA4	1	-	c.274C>T	p.L92L	syn	rs35562371	0.0028	T=0/C=8600;T=92/C=4314;T=92/C=12914	lod=332:590	-	-	-	het	4
12	6	133767787	C	T	ENST00000430974	ENSG00000112319	133561736	133853258	ENSP00000388670	EYA4	1	-	c.103C>T	p.L35L	syn	rs35562371	0.0028	T=0/C=8600;T=92/C=4314;T=92/C=12914	lod=332:590	-	-	-	het	4
13	6	133767787	C	T	ENST00000431403	ENSG00000112319	133561736	133853258	ENSP00000404558	EYA4	1	EYA4_HUMAN	c.103C>T	p.L35L	syn	rs35562371	0.0028	T=0/C=8600;T=92/C=4314;T=92/C=12914	lod=332:590	-	-	-	het	4
14	6	133767787	C	T	ENST00000452339	ENSG00000112319	133561736	133853258	ENSP00000395916	EYA4	1	EYA4_HUMAN	c.103C>T	p.L35L	syn	rs35562371	0.0028	T=0/C=8600;T=92/C=4314;T=92/C=12914	lod=332:590	-	-	-	het	4
15	6	133767787	C	T	ENST00000525614	ENSG00000112319	133561736	133853258	-	EYA4	1	-	c.440C>T	p.P147L	non-syn	rs35562371	0.0028	T=0/C=8600;T=92/C=4314;T=92/C=12914	lod=332:590	-	-	-	het	4
16	6	133767787	C	T	ENST00000525849	ENSG00000112319	133561736	133853258	ENSP00000433219	EYA4	1	-	c.103C>T	p.L35L	syn	rs35562371	0.0028	T=0/C=8600;T=92/C=4314;T=92/C=12914	lod=332:590	-	-	-	het	4
17	6	133767787	C	T	ENST00000531861	ENSG00000112319	133561736	133853258	-	EYA4	1	-	c.103C>T	p.L35L	syn	rs35562371	0.0028	T=0/C=8600;T=92/C=4314;T=92/C=12914	lod=332:590	-	-	-	het	4
18	6	133767787	C	T	ENST00000531901	ENSG00000112319	133561736	133853258	ENSP00000432770	EYA4	1	-	c.103C>T	p.L35L	syn	rs35562371	0.0028	T=0/C=8600;T=92/C=4314;T=92/C=12914	lod=332:590	-	-	-	het	4
19	6	133767795	T	C	ENST00000355167	ENSG00000112319	133561736	133853258	ENSP00000347294	EYA4	1	EYA4_HUMAN	c.111T>C	p.S37S	syn	rs35863035	0.0042	C=0/T=8600;C=77/T=4329;C=77/T=12929	lod=332:590	-	-	-	het	2
20	6	133767795	T	C	ENST00000355286	ENSG00000112319	133561736	133853258	ENSP00000347434	EYA4	1	EYA4_HUMAN	c.111T>C	p.S37S	syn	rs35863035	0.0042	C=0/T=8600;C=77/T=4329;C=77/T=12929	lod=332:590	-	-	-	het	2

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Transcripts and variants in the surrounding EYA4 6:133561736..133853258 region Gbrowse