MSeqDR Central Portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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 MBTPS2:

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
ENSG00000012174	MBTPS2	0	0	14	ENSG00000012174	ENST00000465888		membrane-bound transcription factor peptidase, site 2 [Source:HGNC Symbol;Acc:15455]	X	21857754	21903542	1	p22.12	21857754	21875711	MBTPS2	MBTPS2-003	HGNC Symbol	HGNC transcript name	3	38.49	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	51360	15455	MBTPS2		27516

MSeqDR Master Exome Data Set M1: 125 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	X	21857882	G	C	ENST00000365779	ENSG00000012174	21857754	21903542	ENSP00000368796	MBTPS2	1	-	c.30G>C	p.V10V	syn	rs139020486	-	C=2/G=6710;C=0/G=3822;C=2/G=10532	lod=312:583	-	-	-	het	1
2	X	21857882	G	C	ENST00000365779	ENSG00000012174	21857754	21903542	ENSP00000368796	MBTPS2	1	-	c.30G>C	p.V10V	syn	rs139020486	-	C=2/G=6710;C=0/G=3822;C=2/G=10532	lod=312:583	-	-	-	hom	1
3	X	21857882	G	C	ENST00000379484	ENSG00000012174	21857754	21903542	ENSP00000368798	MBTPS2	1	MBTP2_HUMAN	c.30G>C	p.V10V	syn	rs139020486	-	C=2/G=6710;C=0/G=3822;C=2/G=10532	lod=312:583	-	-	-	het	1
4	X	21857882	G	C	ENST00000379484	ENSG00000012174	21857754	21903542	ENSP00000368798	MBTPS2	1	MBTP2_HUMAN	c.30G>C	p.V10V	syn	rs139020486	-	C=2/G=6710;C=0/G=3822;C=2/G=10532	lod=312:583	-	-	-	hom	1
5	X	21857882	G	C	ENST00000465888	ENSG00000012174	21857754	21903542	-	MBTPS2	1	-	c.129G>C	p.V43V	syn	rs139020486	-	C=2/G=6710;C=0/G=3822;C=2/G=10532	lod=312:583	-	-	-	het	1
6	X	21857882	G	C	ENST00000465888	ENSG00000012174	21857754	21903542	-	MBTPS2	1	-	c.129G>C	p.V43V	syn	rs139020486	-	C=2/G=6710;C=0/G=3822;C=2/G=10532	lod=312:583	-	-	-	hom	1
7	X	21861429	T	A	ENST00000365779	ENSG00000012174	21857754	21903542	ENSP00000368796	MBTPS2	1	-	c.217T>A	p.Y73N	non-syn	NA	-	-	lod=54:395	TOLERATED	P	-	het	1
8	X	21861429	T	A	ENST00000365779	ENSG00000012174	21857754	21903542	ENSP00000368796	MBTPS2	1	-	c.217T>A	p.Y73N	non-syn	NA	-	-	lod=54:395	TOLERATED	P	-	hom	1
9	X	21861429	T	A	ENST00000379484	ENSG00000012174	21857754	21903542	ENSP00000368798	MBTPS2	1	MBTP2_HUMAN	c.217T>A	p.Y73N	non-syn	NA	-	-	lod=54:395	TOLERATED	P	-	het	1
10	X	21861429	T	A	ENST00000379484	ENSG00000012174	21857754	21903542	ENSP00000368798	MBTPS2	1	MBTP2_HUMAN	c.217T>A	p.Y73N	non-syn	NA	-	-	lod=54:395	TOLERATED	P	-	hom	1
11	X	21861429	T	A	ENST00000465888	ENSG00000012174	21857754	21903542	-	MBTPS2	1	-	c.316T>A	p.Y106N	non-syn	NA	-	-	lod=54:395	TOLERATED	P	-	het	1
12	X	21861429	T	A	ENST00000465888	ENSG00000012174	21857754	21903542	-	MBTPS2	1	-	c.316T>A	p.Y106N	non-syn	NA	-	-	lod=54:395	TOLERATED	P	-	hom	1
13	X	21861434	A	G	ENST00000365779	ENSG00000012174	21857754	21903542	ENSP00000368796	MBTPS2	1	-	c.222A>G	p.Q74Q	syn	rs3213451	0.53	G=2621/A=4107;G=1787/A=2048;G=4408/A=6155	lod=54:395	-	-	-	het	246
14	X	21861434	A	G	ENST00000365779	ENSG00000012174	21857754	21903542	ENSP00000368796	MBTPS2	1	-	c.222A>G	p.Q74Q	syn	rs3213451	0.53	G=2621/A=4107;G=1787/A=2048;G=4408/A=6155	lod=54:395	-	-	-	hom	267
15	X	21861434	A	G	ENST00000379484	ENSG00000012174	21857754	21903542	ENSP00000368798	MBTPS2	1	MBTP2_HUMAN	c.222A>G	p.Q74Q	syn	rs3213451	0.53	G=2621/A=4107;G=1787/A=2048;G=4408/A=6155	lod=54:395	-	-	-	het	246
16	X	21861434	A	G	ENST00000379484	ENSG00000012174	21857754	21903542	ENSP00000368798	MBTPS2	1	MBTP2_HUMAN	c.222A>G	p.Q74Q	syn	rs3213451	0.53	G=2621/A=4107;G=1787/A=2048;G=4408/A=6155	lod=54:395	-	-	-	hom	267
17	X	21861434	A	G	ENST00000465888	ENSG00000012174	21857754	21903542	-	MBTPS2	1	-	c.321A>G	p.Q107Q	syn	rs3213451	0.53	G=2621/A=4107;G=1787/A=2048;G=4408/A=6155	lod=54:395	-	-	-	het	246
18	X	21861434	A	G	ENST00000465888	ENSG00000012174	21857754	21903542	-	MBTPS2	1	-	c.321A>G	p.Q107Q	syn	rs3213451	0.53	G=2621/A=4107;G=1787/A=2048;G=4408/A=6155	lod=54:395	-	-	-	hom	267
19	X	21863314	G	A	ENST00000365779	ENSG00000012174	21857754	21903542	ENSP00000368796	MBTPS2	1	-	c.250G>A	p.V84I	non-syn	rs139868528	-	A=1/G=6727;A=1/G=3834;A=2/G=10561	lod=171:519	TOLERATED	B	-	het	2
20	X	21863314	G	A	ENST00000379484	ENSG00000012174	21857754	21903542	ENSP00000368798	MBTPS2	1	MBTP2_HUMAN	c.250G>A	p.V84I	non-syn	rs139868528	-	A=1/G=6727;A=1/G=3834;A=2/G=10561	lod=171:519	TOLERATED	B	-	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**,
and click "Export" button to save as csv.

Transcripts and variants in the surrounding MBTPS2 X:21857754..21903542 region Gbrowse