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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 PRPS1:

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
ENSG00000147224	PRPS1	0	0	28	ENSG00000147224	ENST00000372435	ENSP00000361512	phosphoribosyl pyrophosphate synthetase 1 [Source:HGNC Symbol;Acc:9462]	X	106871737	106894256	1	q22.3	106871737	106894256	PRPS1	PRPS1-001	HGNC Symbol	HGNC transcript name	5	41.74	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	5631	9462	PRPS1	NM_002764	27516

MSeqDR Master Exome Data Set M1: 28 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	X	106885646	A	G	ENST00000372418	ENSG00000147224	106871737	106894256	ENSP00000361495	PRPS1	1	-	c.156A>G	p.L52L	syn	rs61735617	0.009	G=1/A=6727;G=118/A=3717;G=119/A=10444	lod=308:582	-	-	-	het	2
2	X	106885646	A	G	ENST00000372428	ENSG00000147224	106871737	106894256	ENSP00000361505	PRPS1	1	-	c.255A>G	p.L85L	syn	rs61735617	0.009	G=1/A=6727;G=118/A=3717;G=119/A=10444	lod=308:582	-	-	-	het	2
3	X	106885646	A	G	ENST00000372435	ENSG00000147224	106871737	106894256	ENSP00000361512	PRPS1	1	PRPS1_HUMAN	c.456A>G	p.L152L	syn	rs61735617	0.009	G=1/A=6727;G=118/A=3717;G=119/A=10444	lod=308:582	-	-	-	het	2
4	X	106885646	A	G	ENST00000543248	ENSG00000147224	106871737	106894256	ENSP00000443185	PRPS1	1	PRPS1_HUMAN	c.456A>G	p.L152L	syn	rs61735617	0.009	G=1/A=6727;G=118/A=3717;G=119/A=10444	lod=308:582	-	-	-	het	2
5	X	106885667	C	T	ENST00000372418	ENSG00000147224	106871737	106894256	ENSP00000361495	PRPS1	1	-	c.177C>T	p.I59I	syn	rs61752962	0.00672	T=56/C=6672;T=7/C=3828;T=63/C=10500	lod=46:378	-	-	-	het	2
6	X	106885667	C	T	ENST00000372418	ENSG00000147224	106871737	106894256	ENSP00000361495	PRPS1	1	-	c.177C>T	p.I59I	syn	rs61752962	0.00672	T=56/C=6672;T=7/C=3828;T=63/C=10500	lod=46:378	-	-	-	hom	2
7	X	106885667	C	T	ENST00000372428	ENSG00000147224	106871737	106894256	ENSP00000361505	PRPS1	1	-	c.276C>T	p.I92I	syn	rs61752962	0.00672	T=56/C=6672;T=7/C=3828;T=63/C=10500	lod=46:378	-	-	-	het	2
8	X	106885667	C	T	ENST00000372428	ENSG00000147224	106871737	106894256	ENSP00000361505	PRPS1	1	-	c.276C>T	p.I92I	syn	rs61752962	0.00672	T=56/C=6672;T=7/C=3828;T=63/C=10500	lod=46:378	-	-	-	hom	2
9	X	106885667	C	T	ENST00000372435	ENSG00000147224	106871737	106894256	ENSP00000361512	PRPS1	1	PRPS1_HUMAN	c.477C>T	p.I159I	syn	rs61752962	0.00672	T=56/C=6672;T=7/C=3828;T=63/C=10500	lod=46:378	-	-	-	het	2
10	X	106885667	C	T	ENST00000372435	ENSG00000147224	106871737	106894256	ENSP00000361512	PRPS1	1	PRPS1_HUMAN	c.477C>T	p.I159I	syn	rs61752962	0.00672	T=56/C=6672;T=7/C=3828;T=63/C=10500	lod=46:378	-	-	-	hom	2
11	X	106885667	C	T	ENST00000543248	ENSG00000147224	106871737	106894256	ENSP00000443185	PRPS1	1	PRPS1_HUMAN	c.477C>T	p.I159I	syn	rs61752962	0.00672	T=56/C=6672;T=7/C=3828;T=63/C=10500	lod=46:378	-	-	-	het	2
12	X	106885667	C	T	ENST00000543248	ENSG00000147224	106871737	106894256	ENSP00000443185	PRPS1	1	PRPS1_HUMAN	c.477C>T	p.I159I	syn	rs61752962	0.00672	T=56/C=6672;T=7/C=3828;T=63/C=10500	lod=46:378	-	-	-	hom	2
13	X	106893181	C	T	ENST00000372418	ENSG00000147224	106871737	106894256	ENSP00000361495	PRPS1	1	-	c.576C>T	p.I192I	syn	rs202233161	-	-	lod=414:613	-	-	-	het	1
14	X	106893181	C	T	ENST00000372428	ENSG00000147224	106871737	106894256	ENSP00000361505	PRPS1	1	-	c.675C>T	p.I225I	syn	rs202233161	-	-	lod=414:613	-	-	-	het	1
15	X	106893181	C	T	ENST00000372435	ENSG00000147224	106871737	106894256	ENSP00000361512	PRPS1	1	PRPS1_HUMAN	c.876C>T	p.I292I	syn	rs202233161	-	-	lod=414:613	-	-	-	het	1
16	X	106893181	C	T	ENST00000543248	ENSG00000147224	106871737	106894256	ENSP00000443185	PRPS1	1	PRPS1_HUMAN	c.876C>T	p.I292I	syn	rs202233161	-	-	lod=414:613	-	-	-	het	1
17	X	106893399	C	T	ENST00000372418	ENSG00000147224	106871737	106894256	ENSP00000361495	PRPS1	1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	1
18	X	106893399	C	T	ENST00000372428	ENSG00000147224	106871737	106894256	ENSP00000361505	PRPS1	1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	1
19	X	106893399	C	T	ENST00000372435	ENSG00000147224	106871737	106894256	ENSP00000361512	PRPS1	1	PRPS1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	1
20	X	106893399	C	T	ENST00000543248	ENSG00000147224	106871737	106894256	ENSP00000443185	PRPS1	1	PRPS1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	1

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Transcripts and variants in the surrounding PRPS1 X:106871737..106894256 region Gbrowse