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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 VPS13B:

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
ENSG00000132549	VPS13B	0	0	258	ENSG00000132549	ENST00000355155	ENSP00000347281	vacuolar protein sorting 13 homolog B (yeast) [Source:HGNC Symbol;Acc:2183]	8	100025494	100889808	1	q22.2	100025494	100222015	VPS13B	VPS13B-004	HGNC Symbol	HGNC transcript name	13	36.65	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	157680	2183	VPS13B	NM_015243	27523

MSeqDR Master Exome Data Set M1: 672 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	8	100108587	T	G	ENST00000355155	ENSG00000132549	100025494	100889808	ENSP00000347281	VPS13B	1	VP13B_HUMAN	c.339T>G	p.A113A	syn	rs200619753	-	-	lod=333:590	-	-	-	het	2
2	8	100108587	T	G	ENST00000357162	ENSG00000132549	100025494	100889808	ENSP00000349685	VPS13B	1	VP13B_HUMAN	c.339T>G	p.A113A	syn	rs200619753	-	-	lod=333:590	-	-	-	het	2
3	8	100108587	T	G	ENST00000358544	ENSG00000132549	100025494	100889808	ENSP00000351346	VPS13B	1	VP13B_HUMAN	c.339T>G	p.A113A	syn	rs200619753	-	-	lod=333:590	-	-	-	het	2
4	8	100108587	T	G	ENST00000395996	ENSG00000132549	100025494	100889808	ENSP00000379318	VPS13B	1	VP13B_HUMAN	c.339T>G	p.A113A	syn	rs200619753	-	-	lod=333:590	-	-	-	het	2
5	8	100108587	T	G	ENST00000441350	ENSG00000132549	100025494	100889808	ENSP00000398472	VPS13B	1	VP13B_HUMAN	c.339T>G	p.A113A	syn	rs200619753	-	-	lod=333:590	-	-	-	het	2
6	8	100108587	T	G	ENST00000496144	ENSG00000132549	100025494	100889808	ENSP00000430900	VPS13B	1	VP13B_HUMAN	c.339T>G	p.A113A	syn	rs200619753	-	-	lod=333:590	-	-	-	het	2
7	8	100115328	G	A	ENST00000355155	ENSG00000132549	100025494	100889808	ENSP00000347281	VPS13B	1	VP13B_HUMAN	c.560G>A	p.R187H	non-syn	rs150941426	-	A=2/G=8598;A=1/G=4405;A=3/G=13003	lod=1051:713	DAMAGING	D	-	het	1
8	8	100115328	G	A	ENST00000357162	ENSG00000132549	100025494	100889808	ENSP00000349685	VPS13B	1	VP13B_HUMAN	c.560G>A	p.R187H	non-syn	rs150941426	-	A=2/G=8598;A=1/G=4405;A=3/G=13003	lod=1051:713	DAMAGING	D	-	het	1
9	8	100115328	G	A	ENST00000358544	ENSG00000132549	100025494	100889808	ENSP00000351346	VPS13B	1	VP13B_HUMAN	c.560G>A	p.R187H	non-syn	rs150941426	-	A=2/G=8598;A=1/G=4405;A=3/G=13003	lod=1051:713	DAMAGING	D	-	het	1
10	8	100115328	G	A	ENST00000395996	ENSG00000132549	100025494	100889808	ENSP00000379318	VPS13B	1	VP13B_HUMAN	c.560G>A	p.R187H	non-syn	rs150941426	-	A=2/G=8598;A=1/G=4405;A=3/G=13003	lod=1051:713	DAMAGING	D	-	het	1
11	8	100115328	G	A	ENST00000441350	ENSG00000132549	100025494	100889808	ENSP00000398472	VPS13B	1	VP13B_HUMAN	c.560G>A	p.R187H	non-syn	rs150941426	-	A=2/G=8598;A=1/G=4405;A=3/G=13003	lod=1051:713	DAMAGING	D	-	het	1
12	8	100115328	G	A	ENST00000496144	ENSG00000132549	100025494	100889808	ENSP00000430900	VPS13B	1	VP13B_HUMAN	c.560G>A	p.R187H	non-syn	rs150941426	-	A=2/G=8598;A=1/G=4405;A=3/G=13003	lod=1051:713	DAMAGING	D	-	het	1
13	8	100115328	G	A	ENST00000524330	ENSG00000132549	100025494	100889808	-	VPS13B	1	-	c.42G>A	p.S14S	syn	rs150941426	-	A=2/G=8598;A=1/G=4405;A=3/G=13003	lod=1051:713	DAMAGING	D	-	het	1
14	8	100123308	G	+T	ENST00000355155	ENSG00000132549	100025494	100889808	ENSP00000347281	VPS13B	1	VP13B_HUMAN	-	-	-18bp 3'_splice_site	NA	-	-	lod=13:243	-	-	-	het	2
15	8	100123308	G	+T	ENST00000357162	ENSG00000132549	100025494	100889808	ENSP00000349685	VPS13B	1	VP13B_HUMAN	-	-	-18bp 3'_splice_site	NA	-	-	lod=13:243	-	-	-	het	2
16	8	100123308	G	+T	ENST00000358544	ENSG00000132549	100025494	100889808	ENSP00000351346	VPS13B	1	VP13B_HUMAN	-	-	-18bp 3'_splice_site	NA	-	-	lod=13:243	-	-	-	het	2
17	8	100123308	G	+T	ENST00000395996	ENSG00000132549	100025494	100889808	ENSP00000379318	VPS13B	1	VP13B_HUMAN	-	-	-18bp 3'_splice_site	NA	-	-	lod=13:243	-	-	-	het	2
18	8	100123308	G	+T	ENST00000441350	ENSG00000132549	100025494	100889808	ENSP00000398472	VPS13B	1	VP13B_HUMAN	-	-	-18bp 3'_splice_site	NA	-	-	lod=13:243	-	-	-	het	2
19	8	100123308	G	+T	ENST00000496144	ENSG00000132549	100025494	100889808	ENSP00000430900	VPS13B	1	VP13B_HUMAN	-	-	-18bp 3'_splice_site	NA	-	-	lod=13:243	-	-	-	het	2
20	8	100123455	G	A	ENST00000355155	ENSG00000132549	100025494	100889808	ENSP00000347281	VPS13B	1	VP13B_HUMAN	c.710G>A	p.R237H	non-syn	NA	-	-	lod=974:705	TOLERATED	D	-	het	1

** 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.

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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding VPS13B 8:100025494..100889808 region Gbrowse