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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 EPOR:

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
ENSG00000187266	EPOR	0	0	3	ENSG00000187266	ENST00000222139	ENSP00000222139	erythropoietin receptor [Source:HGNC Symbol;Acc:3416]	19	11488236	11495018	-1	p13.2	11488236	11494988	EPOR	EPOR-001	HGNC Symbol	HGNC transcript name	8	57.53	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	2057	3416	EPOR	NM_000121	27526

MSeqDR Master Exome Data Set M1: 215 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	19	11488655	G	A	ENST00000222139	ENSG00000187266	11488236	11495018	ENSP00000222139	EPOR	-1	EPOR_HUMAN	-	-	3'_UTR	rs112348054	-	A=0/G=8600;A=1/G=4405;A=1/G=13005	-	-	-	-	het	1
2	19	11488655	G	A	ENST00000586890	ENSG00000187266	11488236	11495018	ENSP00000467230	EPOR	-1	-	-	-	3'_UTR	rs112348054	-	A=0/G=8600;A=1/G=4405;A=1/G=13005	-	-	-	-	het	1
3	19	11488655	G	A	ENST00000588681	ENSG00000187266	11488236	11495018	-	EPOR	-1	-	c.1917C>T	p.H639H	syn	rs112348054	-	A=0/G=8600;A=1/G=4405;A=1/G=13005	-	-	-	-	het	1
4	19	11488655	G	A	ENST00000588859	ENSG00000187266	11488236	11495018	ENSP00000466784	EPOR	-1	-	-	-	3'_UTR	rs112348054	-	A=0/G=8600;A=1/G=4405;A=1/G=13005	-	-	-	-	het	1
5	19	11488655	G	A	ENST00000591958	ENSG00000187266	11488236	11495018	ENSP00000468187	EPOR	-1	-	-	-	3'_UTR	rs112348054	-	A=0/G=8600;A=1/G=4405;A=1/G=13005	-	-	-	-	het	1
6	19	11488655	G	A	ENST00000592375	ENSG00000187266	11488236	11495018	ENSP00000467809	EPOR	-1	-	-	-	3'_UTR	rs112348054	-	A=0/G=8600;A=1/G=4405;A=1/G=13005	-	-	-	-	het	1
7	19	11488725	G	A	ENST00000222139	ENSG00000187266	11488236	11495018	ENSP00000222139	EPOR	-1	EPOR_HUMAN	c.1462C>T	p.P488S	non-syn	rs142094773	0.0081	A=32/G=8568;A=7/G=4399;A=39/G=12967	lod=63:412	TOLERATED	D	HGMD	het	13
8	19	11488725	G	A	ENST00000586890	ENSG00000187266	11488236	11495018	ENSP00000467230	EPOR	-1	-	-	-	3'_UTR	rs142094773	0.0081	A=32/G=8568;A=7/G=4399;A=39/G=12967	lod=63:412	TOLERATED	D	HGMD	het	13
9	19	11488725	G	A	ENST00000588681	ENSG00000187266	11488236	11495018	-	EPOR	-1	-	c.1847C>T	p.P616L	non-syn	rs142094773	0.0081	A=32/G=8568;A=7/G=4399;A=39/G=12967	lod=63:412	TOLERATED	D	HGMD	het	13
10	19	11488725	G	A	ENST00000588859	ENSG00000187266	11488236	11495018	ENSP00000466784	EPOR	-1	-	-	-	3'_UTR	rs142094773	0.0081	A=32/G=8568;A=7/G=4399;A=39/G=12967	lod=63:412	TOLERATED	D	HGMD	het	13
11	19	11488725	G	A	ENST00000591958	ENSG00000187266	11488236	11495018	ENSP00000468187	EPOR	-1	-	-	-	3'_UTR	rs142094773	0.0081	A=32/G=8568;A=7/G=4399;A=39/G=12967	lod=63:412	TOLERATED	D	HGMD	het	13
12	19	11488725	G	A	ENST00000592375	ENSG00000187266	11488236	11495018	ENSP00000467809	EPOR	-1	-	-	-	3'_UTR	rs142094773	0.0081	A=32/G=8568;A=7/G=4399;A=39/G=12967	lod=63:412	TOLERATED	D	HGMD	het	13
13	19	11488727	T	C	ENST00000222139	ENSG00000187266	11488236	11495018	ENSP00000222139	EPOR	-1	EPOR_HUMAN	c.1460A>G	p.N487S	non-syn	rs62638745	0.0063	C=66/T=8534;C=10/T=4396;C=76/T=12930	lod=63:412	TOLERATED	P	HGMD	het	4
14	19	11488727	T	C	ENST00000586890	ENSG00000187266	11488236	11495018	ENSP00000467230	EPOR	-1	-	-	-	3'_UTR	rs62638745	0.0063	C=66/T=8534;C=10/T=4396;C=76/T=12930	lod=63:412	TOLERATED	P	HGMD	het	4
15	19	11488727	T	C	ENST00000588681	ENSG00000187266	11488236	11495018	-	EPOR	-1	-	c.1845A>G	p.Q615Q	syn	rs62638745	0.0063	C=66/T=8534;C=10/T=4396;C=76/T=12930	lod=63:412	TOLERATED	P	HGMD	het	4
16	19	11488727	T	C	ENST00000588859	ENSG00000187266	11488236	11495018	ENSP00000466784	EPOR	-1	-	-	-	3'_UTR	rs62638745	0.0063	C=66/T=8534;C=10/T=4396;C=76/T=12930	lod=63:412	TOLERATED	P	HGMD	het	4
17	19	11488727	T	C	ENST00000591958	ENSG00000187266	11488236	11495018	ENSP00000468187	EPOR	-1	-	-	-	3'_UTR	rs62638745	0.0063	C=66/T=8534;C=10/T=4396;C=76/T=12930	lod=63:412	TOLERATED	P	HGMD	het	4
18	19	11488727	T	C	ENST00000592375	ENSG00000187266	11488236	11495018	ENSP00000467809	EPOR	-1	-	-	-	3'_UTR	rs62638745	0.0063	C=66/T=8534;C=10/T=4396;C=76/T=12930	lod=63:412	TOLERATED	P	HGMD	het	4
19	19	11488760	G	A	ENST00000222139	ENSG00000187266	11488236	11495018	ENSP00000222139	EPOR	-1	EPOR_HUMAN	c.1427C>T	p.A476V	non-syn	rs146937816	-	A=1/G=8597;A=0/G=4406;A=1/G=13003	-	TOLERATED	B	-	het	3
20	19	11488760	G	A	ENST00000586890	ENSG00000187266	11488236	11495018	ENSP00000467230	EPOR	-1	-	-	-	3'_UTR	rs146937816	-	A=1/G=8597;A=0/G=4406;A=1/G=13003	-	TOLERATED	B	-	het	3

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Transcripts and variants in the surrounding EPOR 19:11488236..11495018 region Gbrowse