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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 EDN3:

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
ENSG00000124205	EDN3	1	0	13	ENSG00000124205	ENST00000337938	ENSP00000337128	endothelin 3 [Source:HGNC Symbol;Acc:3178]	20	57875482	57901047	1	q13.32	57875482	57901047	EDN3	EDN3-001	HGNC Symbol	HGNC transcript name	5	49.22	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	1908	3178	EDN3	NM_207034	27522

MSeqDR Master Exome Data Set M1: 89 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	20	57875620	G	A	ENST00000311585	ENSG00000124205	57875482	57901047	ENSP00000311854	EDN3	1	EDN3_HUMAN	-	-	5'_UTR	NA	-	-	lod=122:483	-	-	-	het	5
2	20	57875620	G	A	ENST00000337938	ENSG00000124205	57875482	57901047	ENSP00000337128	EDN3	1	EDN3_HUMAN	-	-	5'_UTR	NA	-	-	lod=122:483	-	-	-	het	5
3	20	57875620	G	A	ENST00000371028	ENSG00000124205	57875482	57901047	ENSP00000360067	EDN3	1	EDN3_HUMAN	-	-	5'_UTR	NA	-	-	lod=122:483	-	-	-	het	5
4	20	57875744	C	G	ENST00000311585	ENSG00000124205	57875482	57901047	ENSP00000311854	EDN3	1	EDN3_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3
5	20	57875744	C	G	ENST00000337938	ENSG00000124205	57875482	57901047	ENSP00000337128	EDN3	1	EDN3_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3
6	20	57875744	C	G	ENST00000371025	ENSG00000124205	57875482	57901047	ENSP00000360064	EDN3	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3
7	20	57875744	C	G	ENST00000371028	ENSG00000124205	57875482	57901047	ENSP00000360067	EDN3	1	EDN3_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3
8	20	57875783	G	A	ENST00000311585	ENSG00000124205	57875482	57901047	ENSP00000311854	EDN3	1	EDN3_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
9	20	57875783	G	A	ENST00000337938	ENSG00000124205	57875482	57901047	ENSP00000337128	EDN3	1	EDN3_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
10	20	57875783	G	A	ENST00000371025	ENSG00000124205	57875482	57901047	ENSP00000360064	EDN3	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
11	20	57875783	G	A	ENST00000371028	ENSG00000124205	57875482	57901047	ENSP00000360067	EDN3	1	EDN3_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
12	20	57875783	G	A	ENST00000395654	ENSG00000124205	57875482	57901047	ENSP00000379015	EDN3	1	EDN3_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
13	20	57875791	T	A	ENST00000311585	ENSG00000124205	57875482	57901047	ENSP00000311854	EDN3	1	EDN3_HUMAN	-	-	5'_UTR	rs11570254	0.0491	-	-	-	-	-	het	5
14	20	57875791	T	A	ENST00000337938	ENSG00000124205	57875482	57901047	ENSP00000337128	EDN3	1	EDN3_HUMAN	-	-	5'_UTR	rs11570254	0.0491	-	-	-	-	-	het	5
15	20	57875791	T	A	ENST00000371025	ENSG00000124205	57875482	57901047	ENSP00000360064	EDN3	1	-	-	-	5'_UTR	rs11570254	0.0491	-	-	-	-	-	het	5
16	20	57875791	T	A	ENST00000371028	ENSG00000124205	57875482	57901047	ENSP00000360067	EDN3	1	EDN3_HUMAN	-	-	5'_UTR	rs11570254	0.0491	-	-	-	-	-	het	5
17	20	57875791	T	A	ENST00000395654	ENSG00000124205	57875482	57901047	ENSP00000379015	EDN3	1	EDN3_HUMAN	-	-	5'_UTR	rs11570254	0.0491	-	-	-	-	-	het	5
18	20	57875824	C	T	ENST00000311585	ENSG00000124205	57875482	57901047	ENSP00000311854	EDN3	1	EDN3_HUMAN	-	-	5'_UTR	NA	-	T=3/C=8499;T=0/C=4362;T=3/C=12861	-	-	-	-	het	4
19	20	57875824	C	T	ENST00000337938	ENSG00000124205	57875482	57901047	ENSP00000337128	EDN3	1	EDN3_HUMAN	-	-	5'_UTR	NA	-	T=3/C=8499;T=0/C=4362;T=3/C=12861	-	-	-	-	het	4
20	20	57875824	C	T	ENST00000371025	ENSG00000124205	57875482	57901047	ENSP00000360064	EDN3	1	-	-	-	5'_UTR	NA	-	T=3/C=8499;T=0/C=4362;T=3/C=12861	-	-	-	-	het	4

** A friendly reminder: guest user can access up to first 20 entries per gene from MSeqDR Master Exome Data Set M1. To gain access to the full power of MSeqDR, please login, or register, then request access to data.

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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding EDN3 20:57875482..57901047 region Gbrowse