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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 GLE1:

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
ENSG00000119392	GLE1	0	0	7	ENSG00000119392	ENST00000309971	ENSP00000308622	GLE1 RNA export mediator [Source:HGNC Symbol;Acc:4315]	9	131266979	131304567	1	q34.11	131266979	131304567	GLE1	GLE1-002	HGNC Symbol	HGNC transcript name	4	45.27	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	2733	4315	GLE1	NM_001003722	27518

MSeqDR Master Exome Data Set M1: 62 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	9	131267040	T	C	ENST00000309971	ENSG00000119392	131266979	131304567	ENSP00000308622	GLE1	1	GLE1_HUMAN	-	-	5'_UTR	NA	-	C=0/T=8600;C=1/T=4405;C=1/T=13005	-	-	-	-	het	1
2	9	131267040	T	C	ENST00000372770	ENSG00000119392	131266979	131304567	ENSP00000361856	GLE1	1	GLE1_HUMAN	-	-	5'_UTR	NA	-	C=0/T=8600;C=1/T=4405;C=1/T=13005	-	-	-	-	het	1
3	9	131267068	C	G	ENST00000309971	ENSG00000119392	131266979	131304567	ENSP00000308622	GLE1	1	GLE1_HUMAN	-	-	5'_UTR	NA	-	G=0/C=8600;G=1/C=4405;G=1/C=13005	-	-	-	-	het	4
4	9	131267068	C	G	ENST00000372770	ENSG00000119392	131266979	131304567	ENSP00000361856	GLE1	1	GLE1_HUMAN	-	-	5'_UTR	NA	-	G=0/C=8600;G=1/C=4405;G=1/C=13005	-	-	-	-	het	4
5	9	131267089	C	G	ENST00000309971	ENSG00000119392	131266979	131304567	ENSP00000308622	GLE1	1	GLE1_HUMAN	c.5C>G	p.P2R	non-syn	rs150246404	-	G=6/C=8594;G=0/C=4406;G=6/C=13000	lod=132:491	DAMAGING	D	-	het	4
6	9	131267089	C	G	ENST00000372770	ENSG00000119392	131266979	131304567	ENSP00000361856	GLE1	1	GLE1_HUMAN	c.5C>G	p.P2R	non-syn	rs150246404	-	G=6/C=8594;G=0/C=4406;G=6/C=13000	lod=132:491	DAMAGING	D	-	het	4
7	9	131267089	C	G	ENST00000539582	ENSG00000119392	131266979	131304567	ENSP00000438670	GLE1	1	-	-	-	5'_UTR	rs150246404	-	G=6/C=8594;G=0/C=4406;G=6/C=13000	lod=132:491	DAMAGING	D	-	het	4
8	9	131277856	C	T	ENST00000309971	ENSG00000119392	131266979	131304567	ENSP00000308622	GLE1	1	GLE1_HUMAN	c.370C>T	p.R124W	non-syn	NA	-	-	lod=112:473	DAMAGING	D	-	het	2
9	9	131277856	C	T	ENST00000372770	ENSG00000119392	131266979	131304567	ENSP00000361856	GLE1	1	GLE1_HUMAN	c.370C>T	p.R124W	non-syn	NA	-	-	lod=112:473	DAMAGING	D	-	het	2
10	9	131277856	C	T	ENST00000539582	ENSG00000119392	131266979	131304567	ENSP00000438670	GLE1	1	-	-	-	5'_UTR	NA	-	-	lod=112:473	DAMAGING	D	-	het	2
11	9	131277870	G	A	ENST00000309971	ENSG00000119392	131266979	131304567	ENSP00000308622	GLE1	1	GLE1_HUMAN	c.384G>A	p.V128V	syn	NA	-	-	lod=112:473	-	-	-	het	2
12	9	131277870	G	A	ENST00000372770	ENSG00000119392	131266979	131304567	ENSP00000361856	GLE1	1	GLE1_HUMAN	c.384G>A	p.V128V	syn	NA	-	-	lod=112:473	-	-	-	het	2
13	9	131277870	G	A	ENST00000539582	ENSG00000119392	131266979	131304567	ENSP00000438670	GLE1	1	-	-	-	5'_UTR	NA	-	-	lod=112:473	-	-	-	het	2
14	9	131284948	A	G	ENST00000309971	ENSG00000119392	131266979	131304567	ENSP00000308622	GLE1	1	GLE1_HUMAN	c.434A>G	p.E145G	non-syn	NA	-	-	lod=146:502	DAMAGING	P	-	het	1
15	9	131284948	A	G	ENST00000372770	ENSG00000119392	131266979	131304567	ENSP00000361856	GLE1	1	GLE1_HUMAN	c.434A>G	p.E145G	non-syn	NA	-	-	lod=146:502	DAMAGING	P	-	het	1
16	9	131284956	A	G	ENST00000309971	ENSG00000119392	131266979	131304567	ENSP00000308622	GLE1	1	GLE1_HUMAN	c.442A>G	p.R148G	non-syn	NA	-	-	lod=146:502	DAMAGING	D	-	het	1
17	9	131284956	A	G	ENST00000372770	ENSG00000119392	131266979	131304567	ENSP00000361856	GLE1	1	GLE1_HUMAN	c.442A>G	p.R148G	non-syn	NA	-	-	lod=146:502	DAMAGING	D	-	het	1
18	9	131284958	G	A	ENST00000309971	ENSG00000119392	131266979	131304567	ENSP00000308622	GLE1	1	GLE1_HUMAN	c.444G>A	p.R148R	syn	rs143856051	0.007	A=1/G=8561;A=1/G=4395;A=2/G=12956	lod=146:502	-	-	-	het	2
19	9	131284958	G	A	ENST00000372770	ENSG00000119392	131266979	131304567	ENSP00000361856	GLE1	1	GLE1_HUMAN	c.444G>A	p.R148R	syn	rs143856051	0.007	A=1/G=8561;A=1/G=4395;A=2/G=12956	lod=146:502	-	-	-	het	2
20	9	131284969	A	G	ENST00000309971	ENSG00000119392	131266979	131304567	ENSP00000308622	GLE1	1	GLE1_HUMAN	c.455A>G	p.E152G	non-syn	rs141181146	-	-	lod=146:502	DAMAGING	D	-	het	6

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Transcripts and variants in the surrounding GLE1 9:131266979..131304567 region Gbrowse