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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 PYGL:

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
ENSG00000100504	PYGL	0	0	29	ENSG00000100504	ENST00000532462	ENSP00000431657	phosphorylase, glycogen, liver [Source:HGNC Symbol;Acc:9725]	14	51324609	51411454	-1	q22.1	51324609	51411174	PYGL	PYGL-003	HGNC Symbol	HGNC transcript name	7	42.47	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	PUTATIVE	5836	9725	PYGL		27520

MSeqDR Master Exome Data Set M1: 185 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	14	51324617	C	A	ENST00000532462	ENSG00000100504	51324609	51411454	ENSP00000431657	PYGL	-1	-	-	-	3'_UTR	rs7141773	0.32196	-	-	-	-	-	het	220
2	14	51324617	C	A	ENST00000532462	ENSG00000100504	51324609	51411454	ENSP00000431657	PYGL	-1	-	-	-	3'_UTR	rs7141773	0.32196	-	-	-	-	-	hom	58
3	14	51324617	C	T	ENST00000532462	ENSG00000100504	51324609	51411454	ENSP00000431657	PYGL	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	6
4	14	51324755	C	A	ENST00000532462	ENSG00000100504	51324609	51411454	ENSP00000431657	PYGL	-1	-	-	-	3'_UTR	rs75814853	0.0848	-	-	-	-	-	het	8
5	14	51324794	T	C	ENST00000532462	ENSG00000100504	51324609	51411454	ENSP00000431657	PYGL	-1	-	-	-	3'_UTR	rs12881034	0.0723	-	-	-	-	-	het	20
6	14	51324894	A	-AG	ENST00000532462	ENSG00000100504	51324609	51411454	ENSP00000431657	PYGL	-1	-	-	-	-7bp 3'_splice_site	rs72242050	-	-	-	-	-	-	het	338
7	14	51324894	A	-AG	ENST00000532462	ENSG00000100504	51324609	51411454	ENSP00000431657	PYGL	-1	-	-	-	-7bp 3'_splice_site	rs72242050	-	-	-	-	-	-	hom	76
8	14	51372098	C	-A	ENST00000216392	ENSG00000100504	51324609	51411454	ENSP00000216392	PYGL	-1	PYGL_HUMAN	-	-	3'_UTR	rs3216001	-	-	-	-	-	-	het	475
9	14	51372098	C	-A	ENST00000216392	ENSG00000100504	51324609	51411454	ENSP00000216392	PYGL	-1	PYGL_HUMAN	-	-	3'_UTR	rs3216001	-	-	-	-	-	-	hom	120
10	14	51372098	C	-A	ENST00000544180	ENSG00000100504	51324609	51411454	ENSP00000443787	PYGL	-1	PYGL_HUMAN	-	-	3'_UTR	rs3216001	-	-	-	-	-	-	het	475
11	14	51372098	C	-A	ENST00000544180	ENSG00000100504	51324609	51411454	ENSP00000443787	PYGL	-1	PYGL_HUMAN	-	-	3'_UTR	rs3216001	-	-	-	-	-	-	hom	120
12	14	51372103	C	G	ENST00000216392	ENSG00000100504	51324609	51411454	ENSP00000216392	PYGL	-1	PYGL_HUMAN	-	-	3'_UTR	rs1042266	-	G=1643/C=6957;G=309/C=4097;G=1952/C=11054	-	-	-	-	het	2
13	14	51372103	C	G	ENST00000544180	ENSG00000100504	51324609	51411454	ENSP00000443787	PYGL	-1	PYGL_HUMAN	-	-	3'_UTR	rs1042266	-	G=1643/C=6957;G=309/C=4097;G=1952/C=11054	-	-	-	-	het	2
14	14	51372113	A	G	ENST00000216392	ENSG00000100504	51324609	51411454	ENSP00000216392	PYGL	-1	PYGL_HUMAN	c.2541T>C	p.N847N	syn	NA	-	-	-	-	-	-	het	1
15	14	51372113	A	G	ENST00000544180	ENSG00000100504	51324609	51411454	ENSP00000443787	PYGL	-1	PYGL_HUMAN	c.2439T>C	p.N813N	syn	NA	-	-	-	-	-	-	het	1
16	14	51372120	T	C	ENST00000216392	ENSG00000100504	51324609	51411454	ENSP00000216392	PYGL	-1	PYGL_HUMAN	c.2534A>G	p.N845S	non-syn	rs78558135	0.0393	C=2/T=8598;C=221/T=4185;C=223/T=12783	lod=15:259	TOLERATED	P	-	het	3
17	14	51372120	T	C	ENST00000544180	ENSG00000100504	51324609	51411454	ENSP00000443787	PYGL	-1	PYGL_HUMAN	c.2432A>G	p.N811S	non-syn	rs78558135	0.0393	C=2/T=8598;C=221/T=4185;C=223/T=12783	lod=15:259	TOLERATED	P	-	het	3
18	14	51372238	T	A	ENST00000216392	ENSG00000100504	51324609	51411454	ENSP00000216392	PYGL	-1	PYGL_HUMAN	c.2416A>T	p.I806L	non-syn	rs34313873	0.0166	A=145/T=8455;A=16/T=4390;A=161/T=12845	lod=151:505	DAMAGING	B	-	het	48
19	14	51372238	T	A	ENST00000544180	ENSG00000100504	51324609	51411454	ENSP00000443787	PYGL	-1	PYGL_HUMAN	c.2314A>T	p.I772L	non-syn	rs34313873	0.0166	A=145/T=8455;A=16/T=4390;A=161/T=12845	lod=151:505	DAMAGING	B	-	het	48
20	14	51375679	G	A	ENST00000216392	ENSG00000100504	51324609	51411454	ENSP00000216392	PYGL	-1	PYGL_HUMAN	-	-	-6bp 3'_splice_site	NA	-	-	-	-	-	-	het	2

** 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**,
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Transcripts and variants in the surrounding PYGL 14:51324609..51411454 region Gbrowse