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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 PRNP:

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
ENSG00000171867	PRNP	0	0	30	ENSG00000171867	ENST00000379440	ENSP00000368752	prion protein [Source:HGNC Symbol;Acc:9449]	20	4666882	4682236	1	p13	4666882	4682236	PRNP	PRNP-002	HGNC Symbol	HGNC transcript name	4	41.96	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	5621	9449	PRNP	NM_001080121	27522

MSeqDR Master Exome Data Set M1: 107 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	4667334	G	C	ENST00000457586	ENSG00000171867	4666882	4682236	ENSP00000415284	PRNP	1	PRIO_HUMAN	-	-	5'_UTR	rs6052766	0.3434	-	-	-	-	-	het	1
2	20	4680070	T	C	ENST00000379440	ENSG00000171867	4666882	4682236	ENSP00000368752	PRNP	1	PRIO_HUMAN	c.204T>C	p.P68P	syn	rs140330579	-	-	-	DAMAGING	-	-	het	3
3	20	4680070	T	C	ENST00000424424	ENSG00000171867	4666882	4682236	ENSP00000411599	PRNP	1	-	c.204T>C	p.P68P	syn	rs140330579	-	-	-	DAMAGING	-	-	het	3
4	20	4680070	T	C	ENST00000430350	ENSG00000171867	4666882	4682236	ENSP00000399376	PRNP	1	PRIO_HUMAN	c.204T>C	p.P68P	syn	rs140330579	-	-	-	DAMAGING	-	-	het	3
5	20	4680070	T	C	ENST00000457586	ENSG00000171867	4666882	4682236	ENSP00000415284	PRNP	1	PRIO_HUMAN	c.204T>C	p.P68P	syn	rs140330579	-	-	-	DAMAGING	-	-	het	3
6	20	4680094	C	T	ENST00000379440	ENSG00000171867	4666882	4682236	ENSP00000368752	PRNP	1	PRIO_HUMAN	c.228C>T	p.P76P	syn	rs112637437	0.0798	T=7/C=8561;T=28/C=4346;T=35/C=12907	lod=23:304	DAMAGING	-	-	het	17
7	20	4680094	C	T	ENST00000424424	ENSG00000171867	4666882	4682236	ENSP00000411599	PRNP	1	-	c.228C>T	p.P76P	syn	rs112637437	0.0798	T=7/C=8561;T=28/C=4346;T=35/C=12907	lod=23:304	DAMAGING	-	-	het	17
8	20	4680094	C	T	ENST00000430350	ENSG00000171867	4666882	4682236	ENSP00000399376	PRNP	1	PRIO_HUMAN	c.228C>T	p.P76P	syn	rs112637437	0.0798	T=7/C=8561;T=28/C=4346;T=35/C=12907	lod=23:304	DAMAGING	-	-	het	17
9	20	4680094	C	T	ENST00000457586	ENSG00000171867	4666882	4682236	ENSP00000415284	PRNP	1	PRIO_HUMAN	c.228C>T	p.P76P	syn	rs112637437	0.0798	T=7/C=8561;T=28/C=4346;T=35/C=12907	lod=23:304	DAMAGING	-	-	het	17
10	20	4680112	A	G	ENST00000379440	ENSG00000171867	4666882	4682236	ENSP00000368752	PRNP	1	PRIO_HUMAN	c.246A>G	p.G82G	syn	rs62643364	0.1159	G=11/A=8581;G=104/A=4256;G=115/A=12837	lod=68:420	DAMAGING	-	-	het	20
11	20	4680112	A	G	ENST00000424424	ENSG00000171867	4666882	4682236	ENSP00000411599	PRNP	1	-	c.246A>G	p.G82G	syn	rs62643364	0.1159	G=11/A=8581;G=104/A=4256;G=115/A=12837	lod=68:420	DAMAGING	-	-	het	20
12	20	4680112	A	G	ENST00000430350	ENSG00000171867	4666882	4682236	ENSP00000399376	PRNP	1	PRIO_HUMAN	c.246A>G	p.G82G	syn	rs62643364	0.1159	G=11/A=8581;G=104/A=4256;G=115/A=12837	lod=68:420	DAMAGING	-	-	het	20
13	20	4680112	A	G	ENST00000457586	ENSG00000171867	4666882	4682236	ENSP00000415284	PRNP	1	PRIO_HUMAN	c.246A>G	p.G82G	syn	rs62643364	0.1159	G=11/A=8581;G=104/A=4256;G=115/A=12837	lod=68:420	DAMAGING	-	-	het	20
14	20	4680118	T	C	ENST00000379440	ENSG00000171867	4666882	4682236	ENSP00000368752	PRNP	1	PRIO_HUMAN	c.252T>C	p.P84P	syn	rs62637686	0.1148	C=8/T=8590;C=162/T=4194;C=170/T=12784	lod=68:420	DAMAGING	-	-	het	20
15	20	4680118	T	C	ENST00000424424	ENSG00000171867	4666882	4682236	ENSP00000411599	PRNP	1	-	c.252T>C	p.P84P	syn	rs62637686	0.1148	C=8/T=8590;C=162/T=4194;C=170/T=12784	lod=68:420	DAMAGING	-	-	het	20
16	20	4680118	T	C	ENST00000430350	ENSG00000171867	4666882	4682236	ENSP00000399376	PRNP	1	PRIO_HUMAN	c.252T>C	p.P84P	syn	rs62637686	0.1148	C=8/T=8590;C=162/T=4194;C=170/T=12784	lod=68:420	DAMAGING	-	-	het	20
17	20	4680118	T	C	ENST00000457586	ENSG00000171867	4666882	4682236	ENSP00000415284	PRNP	1	PRIO_HUMAN	c.252T>C	p.P84P	syn	rs62637686	0.1148	C=8/T=8590;C=162/T=4194;C=170/T=12784	lod=68:420	DAMAGING	-	-	het	20
18	20	4680208	T	G	ENST00000379440	ENSG00000171867	4666882	4682236	ENSP00000368752	PRNP	1	PRIO_HUMAN	c.342T>G	p.G114G	syn	NA	-	-	lod=88:448	-	-	-	het	27
19	20	4680208	T	G	ENST00000379440	ENSG00000171867	4666882	4682236	ENSP00000368752	PRNP	1	PRIO_HUMAN	c.342T>G	p.G114G	syn	NA	-	-	lod=88:448	-	-	-	hom	1
20	20	4680208	T	G	ENST00000424424	ENSG00000171867	4666882	4682236	ENSP00000411599	PRNP	1	-	c.342T>G	p.G114G	syn	NA	-	-	lod=88:448	-	-	-	het	27

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Transcripts and variants in the surrounding PRNP 20:4666882..4682236 region Gbrowse