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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 PNKP:

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
ENSG00000039650	PNKP	1	2	146	ENSG00000039650	ENST00000595081		polynucleotide kinase 3'-phosphatase [Source:HGNC Symbol;Acc:9154]	19	50364461	50371166	-1	q13.33	50364461	50365153	PNKP	PNKP-015	HGNC Symbol	HGNC transcript name	15	59.9	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	11284	9154	PNKP		27526

MSeqDR Master Exome Data Set M1: 349 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	50364468	G	+AAAC	ENST00000322344	ENSG00000039650	50364461	50371166	ENSP00000323511	PNKP	-1	PNKP_HUMAN	-	-	3'_UTR	rs3739208	-	-	-	-	-	-	het	2
2	19	50364468	G	+AAAC	ENST00000594661	ENSG00000039650	50364461	50371166	-	PNKP	-1	-	c.2094_2095insGTTT	p.L699NA	non-syn	rs3739208	-	-	-	-	-	-	het	2
3	19	50364468	G	+AAAC	ENST00000595081	ENSG00000039650	50364461	50371166	-	PNKP	-1	-	c.505_506insGTTT	p.S169NA	non-syn	rs3739208	-	-	-	-	-	-	het	2
4	19	50364468	G	+AAAC	ENST00000599454	ENSG00000039650	50364461	50371166	-	PNKP	-1	-	c.522_523insGTTT	p.L175NA	non-syn	rs3739208	-	-	-	-	-	-	het	2
5	19	50364484	T	G	ENST00000322344	ENSG00000039650	50364461	50371166	ENSP00000323511	PNKP	-1	PNKP_HUMAN	-	-	3'_UTR	rs201872477	-	G=67/T=8521;G=7/T=4395;G=74/T=12916	-	-	-	-	het	10
6	19	50364484	T	G	ENST00000594661	ENSG00000039650	50364461	50371166	-	PNKP	-1	-	c.2079A>C	p.P693P	syn	rs201872477	-	G=67/T=8521;G=7/T=4395;G=74/T=12916	-	-	-	-	het	10
7	19	50364484	T	G	ENST00000595081	ENSG00000039650	50364461	50371166	-	PNKP	-1	-	c.490A>C	p.T164P	non-syn	rs201872477	-	G=67/T=8521;G=7/T=4395;G=74/T=12916	-	-	-	-	het	10
8	19	50364484	T	G	ENST00000599454	ENSG00000039650	50364461	50371166	-	PNKP	-1	-	c.507A>C	p.P169P	syn	rs201872477	-	G=67/T=8521;G=7/T=4395;G=74/T=12916	-	-	-	-	het	10
9	19	50364514	G	A	ENST00000322344	ENSG00000039650	50364461	50371166	ENSP00000323511	PNKP	-1	PNKP_HUMAN	c.1557C>T	p.S519S	syn	rs142180374	0.0091	A=2/G=8598;A=1/G=4405;A=3/G=13003	lod=62:410	-	-	-	het	3
10	19	50364514	G	A	ENST00000593946	ENSG00000039650	50364461	50371166	ENSP00000468896	PNKP	-1	-	-	-	3'_UTR	rs142180374	0.0091	A=2/G=8598;A=1/G=4405;A=3/G=13003	lod=62:410	-	-	-	het	3
11	19	50364514	G	A	ENST00000594661	ENSG00000039650	50364461	50371166	-	PNKP	-1	-	c.2049C>T	p.S683S	syn	rs142180374	0.0091	A=2/G=8598;A=1/G=4405;A=3/G=13003	lod=62:410	-	-	-	het	3
12	19	50364514	G	A	ENST00000595081	ENSG00000039650	50364461	50371166	-	PNKP	-1	-	c.460C>T	p.R154*	non-syn	rs142180374	0.0091	A=2/G=8598;A=1/G=4405;A=3/G=13003	lod=62:410	-	-	-	het	3
13	19	50364514	G	A	ENST00000596014	ENSG00000039650	50364461	50371166	ENSP00000472300	PNKP	-1	PNKP_HUMAN	c.1557C>T	p.S519S	syn	rs142180374	0.0091	A=2/G=8598;A=1/G=4405;A=3/G=13003	lod=62:410	-	-	-	het	3
14	19	50364514	G	A	ENST00000597965	ENSG00000039650	50364461	50371166	ENSP00000471097	PNKP	-1	-	-	-	3'_UTR	rs142180374	0.0091	A=2/G=8598;A=1/G=4405;A=3/G=13003	lod=62:410	-	-	-	het	3
15	19	50364514	G	A	ENST00000599454	ENSG00000039650	50364461	50371166	-	PNKP	-1	-	c.477C>T	p.S159S	syn	rs142180374	0.0091	A=2/G=8598;A=1/G=4405;A=3/G=13003	lod=62:410	-	-	-	het	3
16	19	50364514	G	A	ENST00000600573	ENSG00000039650	50364461	50371166	ENSP00000469826	PNKP	-1	-	c.1464C>T	p.S488S	syn	rs142180374	0.0091	A=2/G=8598;A=1/G=4405;A=3/G=13003	lod=62:410	-	-	-	het	3
17	19	50364514	G	A	ENST00000600910	ENSG00000039650	50364461	50371166	ENSP00000473137	PNKP	-1	-	-	-	3'_UTR	rs142180374	0.0091	A=2/G=8598;A=1/G=4405;A=3/G=13003	lod=62:410	-	-	-	het	3
18	19	50364520	C	T	ENST00000322344	ENSG00000039650	50364461	50371166	ENSP00000323511	PNKP	-1	PNKP_HUMAN	c.1551G>A	p.Q517Q	syn	NA	-	-	lod=62:410	-	-	-	het	3
19	19	50364520	C	T	ENST00000593946	ENSG00000039650	50364461	50371166	ENSP00000468896	PNKP	-1	-	-	-	3'_UTR	NA	-	-	lod=62:410	-	-	-	het	3
20	19	50364520	C	T	ENST00000594661	ENSG00000039650	50364461	50371166	-	PNKP	-1	-	c.2043G>A	p.Q681Q	syn	NA	-	-	lod=62:410	-	-	-	het	3

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Transcripts and variants in the surrounding PNKP 19:50364461..50371166 region Gbrowse