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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 PPP1R17:

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
ENSG00000106341	PPP1R17	0	0	0	ENSG00000106341	ENST00000342032	ENSP00000340125	protein phosphatase 1, regulatory subunit 17 [Source:HGNC Symbol;Acc:16973]	7	31726329	31748069	1	p14.3	31726329	31748069	PPP1R17	PPP1R17-001	HGNC Symbol	HGNC transcript name	3	40.71	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	10842	16973	PPP1R17	NM_006658	27506

MSeqDR Master Exome Data Set M1: 59 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	7	31732047	C	T	ENST00000342032	ENSG00000106341	31726329	31748069	ENSP00000340125	PPP1R17	1	PPR17_HUMAN	-	-	5'_UTR	rs138575100	0.0028	T=0/C=8600;T=39/C=4367;T=39/C=12967	-	-	-	-	het	1
2	7	31732047	C	T	ENST00000409146	ENSG00000106341	31726329	31748069	ENSP00000386459	PPP1R17	1	PPR17_HUMAN	-	-	5'_UTR	rs138575100	0.0028	T=0/C=8600;T=39/C=4367;T=39/C=12967	-	-	-	-	het	1
3	7	31732084	T	G	ENST00000342032	ENSG00000106341	31726329	31748069	ENSP00000340125	PPP1R17	1	PPR17_HUMAN	c.29T>G	p.L10R	non-syn	rs36047130	0.0421	G=117/T=8483;G=115/T=4291;G=232/T=12774	-	DAMAGING	P	-	het	69
4	7	31732084	T	G	ENST00000409146	ENSG00000106341	31726329	31748069	ENSP00000386459	PPP1R17	1	PPR17_HUMAN	c.29T>G	p.L10R	non-syn	rs36047130	0.0421	G=117/T=8483;G=115/T=4291;G=232/T=12774	-	DAMAGING	P	-	het	69
5	7	31732089	C	G	ENST00000342032	ENSG00000106341	31726329	31748069	ENSP00000340125	PPP1R17	1	PPR17_HUMAN	c.34C>G	p.L12V	non-syn	rs3735422	0.186	G=962/C=7638;G=757/C=3649;G=1719/C=11287	lod=91:451	TOLERATED	NA	-	het	204
6	7	31732089	C	G	ENST00000342032	ENSG00000106341	31726329	31748069	ENSP00000340125	PPP1R17	1	PPR17_HUMAN	c.34C>G	p.L12V	non-syn	rs3735422	0.186	G=962/C=7638;G=757/C=3649;G=1719/C=11287	lod=91:451	TOLERATED	NA	-	hom	18
7	7	31732089	C	G	ENST00000409146	ENSG00000106341	31726329	31748069	ENSP00000386459	PPP1R17	1	PPR17_HUMAN	c.34C>G	p.L12V	non-syn	rs3735422	0.186	G=962/C=7638;G=757/C=3649;G=1719/C=11287	lod=91:451	TOLERATED	NA	-	het	204
8	7	31732089	C	G	ENST00000409146	ENSG00000106341	31726329	31748069	ENSP00000386459	PPP1R17	1	PPR17_HUMAN	c.34C>G	p.L12V	non-syn	rs3735422	0.186	G=962/C=7638;G=757/C=3649;G=1719/C=11287	lod=91:451	TOLERATED	NA	-	hom	18
9	7	31732118	C	A	ENST00000342032	ENSG00000106341	31726329	31748069	ENSP00000340125	PPP1R17	1	PPR17_HUMAN	c.63C>A	p.D21E	non-syn	rs201857392	-	-	-	DAMAGING	D	-	het	1
10	7	31732118	C	A	ENST00000409146	ENSG00000106341	31726329	31748069	ENSP00000386459	PPP1R17	1	PPR17_HUMAN	c.63C>A	p.D21E	non-syn	rs201857392	-	-	-	DAMAGING	D	-	het	1
11	7	31732154	T	C	ENST00000342032	ENSG00000106341	31726329	31748069	ENSP00000340125	PPP1R17	1	PPR17_HUMAN	-	-	+17bp 5'_splice_site	rs142761417	0.0029	C=0/T=8600;C=48/T=4358;C=48/T=12958	-	-	-	-	het	3
12	7	31732154	T	C	ENST00000409146	ENSG00000106341	31726329	31748069	ENSP00000386459	PPP1R17	1	PPR17_HUMAN	-	-	+17bp 5'_splice_site	rs142761417	0.0029	C=0/T=8600;C=48/T=4358;C=48/T=12958	-	-	-	-	het	3
13	7	31735178	C	-A	ENST00000342032	ENSG00000106341	31726329	31748069	ENSP00000340125	PPP1R17	1	PPR17_HUMAN	c.179_179del	p.Q60NA	non-syn	NA	-	-	lod=77:433	-	-	-	het	2
14	7	31735663	T	A	ENST00000498609	ENSG00000106341	31726329	31748069	-	PPP1R17	1	-	c.87T>A	p.S29S	syn	rs34176	0.5357	-	-	-	-	-	het	1
15	7	31736566	C	A	ENST00000342032	ENSG00000106341	31726329	31748069	ENSP00000340125	PPP1R17	1	PPR17_HUMAN	-	-	-13bp 3'_splice_site	rs200654787	-	A=0/C=8600;A=15/C=4391;A=15/C=12991	-	-	-	-	het	1
16	7	31736566	C	A	ENST00000409146	ENSG00000106341	31726329	31748069	ENSP00000386459	PPP1R17	1	PPR17_HUMAN	-	-	-13bp 3'_splice_site	rs200654787	-	A=0/C=8600;A=15/C=4391;A=15/C=12991	-	-	-	-	het	1
17	7	31736566	C	A	ENST00000498609	ENSG00000106341	31726329	31748069	-	PPP1R17	1	-	-	-	-13bp 3'_splice_site	rs200654787	-	A=0/C=8600;A=15/C=4391;A=15/C=12991	-	-	-	-	het	1
18	7	31736750	G	A	ENST00000342032	ENSG00000106341	31726329	31748069	ENSP00000340125	PPP1R17	1	PPR17_HUMAN	-	-	+19bp 5'_splice_site	rs116461691	0.0334	A=150/G=8450;A=194/G=4212;A=344/G=12662	-	-	-	-	het	25
19	7	31736750	G	A	ENST00000342032	ENSG00000106341	31726329	31748069	ENSP00000340125	PPP1R17	1	PPR17_HUMAN	-	-	+19bp 5'_splice_site	rs116461691	0.0334	A=150/G=8450;A=194/G=4212;A=344/G=12662	-	-	-	-	hom	3
20	7	31736750	G	A	ENST00000409146	ENSG00000106341	31726329	31748069	ENSP00000386459	PPP1R17	1	PPR17_HUMAN	-	-	+19bp 5'_splice_site	rs116461691	0.0334	A=150/G=8450;A=194/G=4212;A=344/G=12662	-	-	-	-	het	25

** 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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Transcripts and variants in the surrounding PPP1R17 7:31726329..31748069 region Gbrowse