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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 PKLR:

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
ENSG00000143627	PKLR	1	0	8	ENSG00000143627	ENST00000392414	ENSP00000376214	pyruvate kinase, liver and RBC [Source:HGNC Symbol;Acc:9020]	1	155259630	155271225	-1	q22	155259630	155270792	PKLR	PKLR-002	HGNC Symbol	HGNC transcript name	3	52.59	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	5313	9020	PKLR	NM_181871	27511
ENSG00000262785	PKLR	1	0	8	ENSG00000262785	ENST00000571194	ENSP00000461487	pyruvate kinase, liver and RBC [Source:HGNC Symbol;Acc:9020]	HSCHR1_2_CTG31	155275034	155286629	-1	q22	155275034	155286196	PKLR	PKLR-002	HGNC Symbol	HGNC transcript name	3	52.59	protein_coding	protein_coding	havana	havana	KNOWN	KNOWN	5313	9020	PKLR		1000057045

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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	1	155260096	G	A	ENST00000342741	ENSG00000143627	155259630	155271225	ENSP00000339933	PKLR	-1	KPYR_HUMAN	-	-	3'_UTR	rs932972	0.5865	-	-	-	-	-	het	255
2	1	155260096	G	A	ENST00000342741	ENSG00000143627	155259630	155271225	ENSP00000339933	PKLR	-1	KPYR_HUMAN	-	-	3'_UTR	rs932972	0.5865	-	-	-	-	-	hom	59
3	1	155260096	G	A	ENST00000392414	ENSG00000143627	155259630	155271225	ENSP00000376214	PKLR	-1	KPYR_HUMAN	-	-	3'_UTR	rs932972	0.5865	-	-	-	-	-	het	255
4	1	155260096	G	A	ENST00000392414	ENSG00000143627	155259630	155271225	ENSP00000376214	PKLR	-1	KPYR_HUMAN	-	-	3'_UTR	rs932972	0.5865	-	-	-	-	-	hom	59
5	1	155260350	A	G	ENST00000342741	ENSG00000143627	155259630	155271225	ENSP00000339933	PKLR	-1	KPYR_HUMAN	-	-	3'_UTR	rs1052177	0.5598	G=2177/A=6423;G=1976/A=2430;G=4153/A=8853	-	-	-	-	het	318
6	1	155260350	A	G	ENST00000342741	ENSG00000143627	155259630	155271225	ENSP00000339933	PKLR	-1	KPYR_HUMAN	-	-	3'_UTR	rs1052177	0.5598	G=2177/A=6423;G=1976/A=2430;G=4153/A=8853	-	-	-	-	hom	82
7	1	155260350	A	G	ENST00000392414	ENSG00000143627	155259630	155271225	ENSP00000376214	PKLR	-1	KPYR_HUMAN	-	-	3'_UTR	rs1052177	0.5598	G=2177/A=6423;G=1976/A=2430;G=4153/A=8853	-	-	-	-	het	318
8	1	155260350	A	G	ENST00000392414	ENSG00000143627	155259630	155271225	ENSP00000376214	PKLR	-1	KPYR_HUMAN	-	-	3'_UTR	rs1052177	0.5598	G=2177/A=6423;G=1976/A=2430;G=4153/A=8853	-	-	-	-	hom	82
9	1	155260382	C	T	ENST00000342741	ENSG00000143627	155259630	155271225	ENSP00000339933	PKLR	-1	KPYR_HUMAN	c.1706G>A	p.R569Q	non-syn	rs61755431	0.00296	T=14/C=8586;T=0/C=4406;T=14/C=12992	lod=347:594	DAMAGING	P	Pyruvate kinase deficiency	het	2
10	1	155260382	C	T	ENST00000392414	ENSG00000143627	155259630	155271225	ENSP00000376214	PKLR	-1	KPYR_HUMAN	c.1613G>A	p.R538Q	non-syn	rs61755431	0.00296	T=14/C=8586;T=0/C=4406;T=14/C=12992	lod=347:594	DAMAGING	P	Pyruvate kinase deficiency	het	2
11	1	155260383	G	T	ENST00000342741	ENSG00000143627	155259630	155271225	ENSP00000339933	PKLR	-1	KPYR_HUMAN	c.1705C>A	p.R569R	syn	rs1052176	0.5646	T=2299/G=6301;T=2139/G=2267;T=4438/G=8568	lod=347:594	-	-	-	hom	80
12	1	155260383	G	T	ENST00000342741	ENSG00000143627	155259630	155271225	ENSP00000339933	PKLR	-1	KPYR_HUMAN	c.1705C>A	p.R569R	syn	rs1052176	0.5646	T=2299/G=6301;T=2139/G=2267;T=4438/G=8568	lod=347:594	-	-	-	het	387
13	1	155260383	G	T	ENST00000392414	ENSG00000143627	155259630	155271225	ENSP00000376214	PKLR	-1	KPYR_HUMAN	c.1612C>A	p.R538R	syn	rs1052176	0.5646	T=2299/G=6301;T=2139/G=2267;T=4438/G=8568	lod=347:594	-	-	-	hom	80
14	1	155260383	G	T	ENST00000392414	ENSG00000143627	155259630	155271225	ENSP00000376214	PKLR	-1	KPYR_HUMAN	c.1612C>A	p.R538R	syn	rs1052176	0.5646	T=2299/G=6301;T=2139/G=2267;T=4438/G=8568	lod=347:594	-	-	-	het	387
15	1	155260412	C	T	ENST00000342741	ENSG00000143627	155259630	155271225	ENSP00000339933	PKLR	-1	KPYR_HUMAN	c.1676G>A	p.R559Q	non-syn	NA	-	-	lod=347:594	TOLERATED	B	-	het	1
16	1	155260412	C	T	ENST00000392414	ENSG00000143627	155259630	155271225	ENSP00000376214	PKLR	-1	KPYR_HUMAN	c.1583G>A	p.R528Q	non-syn	NA	-	-	lod=347:594	TOLERATED	B	-	het	1
17	1	155261529	A	G	ENST00000342741	ENSG00000143627	155259630	155271225	ENSP00000339933	PKLR	-1	KPYR_HUMAN	-	-	+18bp 5'_splice_site	rs201484215	-	-	-	-	-	-	het	11
18	1	155261529	A	G	ENST00000392414	ENSG00000143627	155259630	155271225	ENSP00000376214	PKLR	-1	KPYR_HUMAN	-	-	+18bp 5'_splice_site	rs201484215	-	-	-	-	-	-	het	11
19	1	155261532	G	T	ENST00000342741	ENSG00000143627	155259630	155271225	ENSP00000339933	PKLR	-1	KPYR_HUMAN	-	-	+15bp 5'_splice_site	NA	-	T=2/G=8598;T=0/G=4406;T=2/G=13004	-	-	-	-	het	2
20	1	155261532	G	T	ENST00000392414	ENSG00000143627	155259630	155271225	ENSP00000376214	PKLR	-1	KPYR_HUMAN	-	-	+15bp 5'_splice_site	NA	-	T=2/G=8598;T=0/G=4406;T=2/G=13004	-	-	-	-	het	2

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Transcripts and variants in the surrounding PKLR 1:155259630..155271225 region Gbrowse