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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 EDNRB:

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
ENSG00000136160	EDNRB	1	1	7	ENSG00000136160	ENST00000377211	ENSP00000366416	endothelin receptor type B [Source:HGNC Symbol;Acc:3180]	13	78469616	78493903	-1	q22.3	78469616	78493903	EDNRB	EDNRB-001	HGNC Symbol	HGNC transcript name	4	37.9	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	PUTATIVE	1910	3180	EDNRB	NM_001201397	27513

MSeqDR Master Exome Data Set M1: 106 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	13	78469780	T	-A	ENST00000334286	ENSG00000136160	78469616	78493903	ENSP00000335311	EDNRB	-1	EDNRB_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
2	13	78469780	T	-A	ENST00000377211	ENSG00000136160	78469616	78493903	ENSP00000366416	EDNRB	-1	EDNRB_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
3	13	78469780	T	-A	ENST00000446573	ENSG00000136160	78469616	78493903	ENSP00000403401	EDNRB	-1	EDNRB_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
4	13	78469872	A	G	ENST00000334286	ENSG00000136160	78469616	78493903	ENSP00000335311	EDNRB	-1	EDNRB_HUMAN	-	-	3'_UTR	rs139792924	0.00385	-	lod=135:493	-	-	-	het	6
5	13	78469872	A	G	ENST00000377211	ENSG00000136160	78469616	78493903	ENSP00000366416	EDNRB	-1	EDNRB_HUMAN	-	-	3'_UTR	rs139792924	0.00385	-	lod=135:493	-	-	-	het	6
6	13	78469872	A	G	ENST00000446573	ENSG00000136160	78469616	78493903	ENSP00000403401	EDNRB	-1	EDNRB_HUMAN	-	-	3'_UTR	rs139792924	0.00385	-	lod=135:493	-	-	-	het	6
7	13	78470168	G	C	ENST00000334286	ENSG00000136160	78469616	78493903	ENSP00000335311	EDNRB	-1	EDNRB_HUMAN	-	-	3'_UTR	rs191136728	0.0043	-	-	-	-	-	het	1
8	13	78470168	G	C	ENST00000377211	ENSG00000136160	78469616	78493903	ENSP00000366416	EDNRB	-1	EDNRB_HUMAN	-	-	3'_UTR	rs191136728	0.0043	-	-	-	-	-	het	1
9	13	78470168	G	C	ENST00000446573	ENSG00000136160	78469616	78493903	ENSP00000403401	EDNRB	-1	EDNRB_HUMAN	-	-	3'_UTR	rs191136728	0.0043	-	-	-	-	-	het	1
10	13	78470350	A	G	ENST00000334286	ENSG00000136160	78469616	78493903	ENSP00000335311	EDNRB	-1	EDNRB_HUMAN	-	-	3'_UTR	rs4885491	0.8836	-	-	-	-	-	hom	445
11	13	78470350	A	G	ENST00000334286	ENSG00000136160	78469616	78493903	ENSP00000335311	EDNRB	-1	EDNRB_HUMAN	-	-	3'_UTR	rs4885491	0.8836	-	-	-	-	-	het	15
12	13	78470350	A	G	ENST00000377211	ENSG00000136160	78469616	78493903	ENSP00000366416	EDNRB	-1	EDNRB_HUMAN	-	-	3'_UTR	rs4885491	0.8836	-	-	-	-	-	hom	445
13	13	78470350	A	G	ENST00000377211	ENSG00000136160	78469616	78493903	ENSP00000366416	EDNRB	-1	EDNRB_HUMAN	-	-	3'_UTR	rs4885491	0.8836	-	-	-	-	-	het	15
14	13	78470350	A	G	ENST00000446573	ENSG00000136160	78469616	78493903	ENSP00000403401	EDNRB	-1	EDNRB_HUMAN	-	-	3'_UTR	rs4885491	0.8836	-	-	-	-	-	hom	445
15	13	78470350	A	G	ENST00000446573	ENSG00000136160	78469616	78493903	ENSP00000403401	EDNRB	-1	EDNRB_HUMAN	-	-	3'_UTR	rs4885491	0.8836	-	-	-	-	-	het	15
16	13	78470491	T	C	ENST00000334286	ENSG00000136160	78469616	78493903	ENSP00000335311	EDNRB	-1	EDNRB_HUMAN	-	-	3'_UTR	rs201311811	-	-	-	-	-	-	het	1
17	13	78470491	T	C	ENST00000377211	ENSG00000136160	78469616	78493903	ENSP00000366416	EDNRB	-1	EDNRB_HUMAN	-	-	3'_UTR	rs201311811	-	-	-	-	-	-	het	1
18	13	78470491	T	C	ENST00000446573	ENSG00000136160	78469616	78493903	ENSP00000403401	EDNRB	-1	EDNRB_HUMAN	-	-	3'_UTR	rs201311811	-	-	-	-	-	-	het	1
19	13	78470568	G	A	ENST00000334286	ENSG00000136160	78469616	78493903	ENSP00000335311	EDNRB	-1	EDNRB_HUMAN	-	-	3'_UTR	rs3027092	0.0168	A=101/G=8003;A=5/G=3583;A=106/G=11586	-	-	-	-	het	16
20	13	78470568	G	A	ENST00000377211	ENSG00000136160	78469616	78493903	ENSP00000366416	EDNRB	-1	EDNRB_HUMAN	-	-	3'_UTR	rs3027092	0.0168	A=101/G=8003;A=5/G=3583;A=106/G=11586	-	-	-	-	het	16

** 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.

As MSeqDR registered user , your accessible protected data set after login:

Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding EDNRB 13:78469616..78493903 region Gbrowse