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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 PNKD:

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
ENSG00000127838	PNKD	1	0	3	ENSG00000127838	ENST00000248451	ENSP00000248451	paroxysmal nonkinesigenic dyskinesia [Source:HGNC Symbol;Acc:9153]	2	219135115	219211516	1	q35	219135115	219137670	PNKD	PNKD-003	HGNC Symbol	HGNC transcript name	8	51.32	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	25953	9153	PNKD	NM_001077399	27508

MSeqDR Master Exome Data Set M1: 143 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	2	219135118	T	C	ENST00000248451	ENSG00000127838	219135115	219211516	ENSP00000248451	PNKD	1	PNKD_HUMAN	-	-	5'_UTR	NA	-	-	lod=112:473	-	-	-	het	1
2	2	219135154	A	T	ENST00000248451	ENSG00000127838	219135115	219211516	ENSP00000248451	PNKD	1	PNKD_HUMAN	-	-	5'_UTR	rs183319984	0.0078	-	lod=27:321	-	-	-	het	1
3	2	219135340	C	A	ENST00000248451	ENSG00000127838	219135115	219211516	ENSP00000248451	PNKD	1	PNKD_HUMAN	-	-	+15bp 5'_splice_site	NA	-	-	lod=527:639	-	-	-	het	1
4	2	219135340	C	A	ENST00000273077	ENSG00000127838	219135115	219211516	ENSP00000273077	PNKD	1	PNKD_HUMAN	-	-	+15bp 5'_splice_site	NA	-	-	lod=527:639	-	-	-	het	1
5	2	219135340	C	A	ENST00000469689	ENSG00000127838	219135115	219211516	-	PNKD	1	-	c.98C>A	p.P33H	non-syn	NA	-	-	lod=527:639	-	-	-	het	1
6	2	219135398	C	T	ENST00000469689	ENSG00000127838	219135115	219211516	-	PNKD	1	-	c.156C>T	p.S52S	syn	NA	-	-	-	-	-	-	het	2
7	2	219135930	C	T	ENST00000469689	ENSG00000127838	219135115	219211516	-	PNKD	1	-	c.688C>T	p.R230W	non-syn	rs11900801	0.1086	-	-	-	-	-	het	3
8	2	219135956	G	A	ENST00000469689	ENSG00000127838	219135115	219211516	-	PNKD	1	-	c.714G>A	p.L238L	syn	NA	-	-	lod=17:272	-	-	-	het	1
9	2	219135974	C	G	ENST00000469689	ENSG00000127838	219135115	219211516	-	PNKD	1	-	c.732C>G	p.F244L	non-syn	rs117369613	0.0092	-	-	-	-	-	het	1
10	2	219136149	C	T	ENST00000248451	ENSG00000127838	219135115	219211516	ENSP00000248451	PNKD	1	PNKD_HUMAN	c.113C>T	p.T38I	non-syn	NA	-	-	lod=35:349	DAMAGING	B	-	het	1
11	2	219136149	C	T	ENST00000273077	ENSG00000127838	219135115	219211516	ENSP00000273077	PNKD	1	PNKD_HUMAN	c.113C>T	p.T38I	non-syn	NA	-	-	lod=35:349	DAMAGING	B	-	het	1
12	2	219136149	C	T	ENST00000469689	ENSG00000127838	219135115	219211516	-	PNKD	1	-	c.907C>T	p.P303S	non-syn	NA	-	-	lod=35:349	DAMAGING	B	-	het	1
13	2	219136149	C	T	ENST00000472650	ENSG00000127838	219135115	219211516	-	PNKD	1	-	c.47C>T	p.T16I	non-syn	NA	-	-	lod=35:349	DAMAGING	B	-	het	1
14	2	219136290	C	G	ENST00000248451	ENSG00000127838	219135115	219211516	ENSP00000248451	PNKD	1	PNKD_HUMAN	-	-	+18bp 5'_splice_site	NA	-	G=2/C=8598;G=0/C=4406;G=2/C=13004	-	-	-	-	het	5
15	2	219136290	C	G	ENST00000273077	ENSG00000127838	219135115	219211516	ENSP00000273077	PNKD	1	PNKD_HUMAN	-	-	+18bp 5'_splice_site	NA	-	G=2/C=8598;G=0/C=4406;G=2/C=13004	-	-	-	-	het	5
16	2	219136290	C	G	ENST00000469689	ENSG00000127838	219135115	219211516	-	PNKD	1	-	-	-	+18bp 5'_splice_site	NA	-	G=2/C=8598;G=0/C=4406;G=2/C=13004	-	-	-	-	het	5
17	2	219136290	C	G	ENST00000472650	ENSG00000127838	219135115	219211516	-	PNKD	1	-	-	-	+18bp 5'_splice_site	NA	-	G=2/C=8598;G=0/C=4406;G=2/C=13004	-	-	-	-	het	5
18	2	219137341	G	A	ENST00000248451	ENSG00000127838	219135115	219211516	ENSP00000248451	PNKD	1	PNKD_HUMAN	c.285G>A	p.R95R	syn	rs201303528	-	A=13/G=8527;A=1/G=4317;A=14/G=12844	lod=715:672	-	-	-	het	1
19	2	219137341	G	A	ENST00000469689	ENSG00000127838	219135115	219211516	-	PNKD	1	-	c.1079G>A	p.G360E	non-syn	rs201303528	-	A=13/G=8527;A=1/G=4317;A=14/G=12844	lod=715:672	-	-	-	het	1
20	2	219137452	G	A	ENST00000248451	ENSG00000127838	219135115	219211516	ENSP00000248451	PNKD	1	PNKD_HUMAN	c.396G>A	p.P132P	syn	rs148049021	0.0101	A=0/G=8376;A=21/G=4047;A=21/G=12423	-	-	-	-	het	4

** 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.

As MSeqDR registered user , your accessible protected data set after login:

Select a dataset from the above drop-down list,
**click here to view variant details for this gene in selected data set**,
and click "Export" button to save as csv.

Transcripts and variants in the surrounding PNKD 2:219135115..219211516 region Gbrowse