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 CHMP2B:

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
ENSG00000083937	CHMP2B	0	0	12	ENSG00000083937	ENST00000471660	ENSP00000419998	charged multivesicular body protein 2B [Source:HGNC Symbol;Acc:24537]	3	87276421	87304698	1	p11.2	87276421	87303064	CHMP2B	CHMP2B-002	HGNC Symbol	HGNC transcript name	5	34.78	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	NOVEL	25978	24537	CHMP2B	NM_001244644	27517

MSeqDR Master Exome Data Set M1: 78 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	3	87276487	T	G	ENST00000263780	ENSG00000083937	87276421	87304698	ENSP00000263780	CHMP2B	1	CHM2B_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
2	3	87276487	T	G	ENST00000471660	ENSG00000083937	87276421	87304698	ENSP00000419998	CHMP2B	1	CHM2B_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
3	3	87276487	T	G	ENST00000472024	ENSG00000083937	87276421	87304698	-	CHMP2B	1	-	c.29T>G	p.V10G	non-syn	NA	-	-	-	-	-	-	het	1
4	3	87276487	T	G	ENST00000494980	ENSG00000083937	87276421	87304698	ENSP00000418920	CHMP2B	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
5	3	87276522	C	A	ENST00000263780	ENSG00000083937	87276421	87304698	ENSP00000263780	CHMP2B	1	CHM2B_HUMAN	-	-	5'_UTR	rs77328592	0.0149	-	-	-	-	-	het	20
6	3	87276522	C	A	ENST00000471660	ENSG00000083937	87276421	87304698	ENSP00000419998	CHMP2B	1	CHM2B_HUMAN	-	-	5'_UTR	rs77328592	0.0149	-	-	-	-	-	het	20
7	3	87276522	C	A	ENST00000472024	ENSG00000083937	87276421	87304698	-	CHMP2B	1	-	c.64C>A	p.R22S	non-syn	rs77328592	0.0149	-	-	-	-	-	het	20
8	3	87276522	C	A	ENST00000494980	ENSG00000083937	87276421	87304698	ENSP00000418920	CHMP2B	1	-	-	-	5'_UTR	rs77328592	0.0149	-	-	-	-	-	het	20
9	3	87276571	C	T	ENST00000263780	ENSG00000083937	87276421	87304698	ENSP00000263780	CHMP2B	1	CHM2B_HUMAN	-	-	5'_UTR	rs36098294	0.0013	-	-	-	-	-	het	14
10	3	87276571	C	T	ENST00000263780	ENSG00000083937	87276421	87304698	ENSP00000263780	CHMP2B	1	CHM2B_HUMAN	-	-	5'_UTR	rs36098294	0.0013	-	-	-	-	-	hom	1
11	3	87276571	C	T	ENST00000471660	ENSG00000083937	87276421	87304698	ENSP00000419998	CHMP2B	1	CHM2B_HUMAN	-	-	5'_UTR	rs36098294	0.0013	-	-	-	-	-	het	14
12	3	87276571	C	T	ENST00000471660	ENSG00000083937	87276421	87304698	ENSP00000419998	CHMP2B	1	CHM2B_HUMAN	-	-	5'_UTR	rs36098294	0.0013	-	-	-	-	-	hom	1
13	3	87276571	C	T	ENST00000472024	ENSG00000083937	87276421	87304698	-	CHMP2B	1	-	c.113C>T	p.P38L	non-syn	rs36098294	0.0013	-	-	-	-	-	het	14
14	3	87276571	C	T	ENST00000472024	ENSG00000083937	87276421	87304698	-	CHMP2B	1	-	c.113C>T	p.P38L	non-syn	rs36098294	0.0013	-	-	-	-	-	hom	1
15	3	87276571	C	T	ENST00000494980	ENSG00000083937	87276421	87304698	ENSP00000418920	CHMP2B	1	-	-	-	5'_UTR	rs36098294	0.0013	-	-	-	-	-	het	14
16	3	87276571	C	T	ENST00000494980	ENSG00000083937	87276421	87304698	ENSP00000418920	CHMP2B	1	-	-	-	5'_UTR	rs36098294	0.0013	-	-	-	-	-	hom	1
17	3	87276638	G	C	ENST00000263780	ENSG00000083937	87276421	87304698	ENSP00000263780	CHMP2B	1	CHM2B_HUMAN	-	-	5'_UTR	rs11540914	-	C=0/G=8588;C=6/G=4394;C=6/G=12982	lod=37:355	-	-	-	het	3
18	3	87276638	G	C	ENST00000471660	ENSG00000083937	87276421	87304698	ENSP00000419998	CHMP2B	1	CHM2B_HUMAN	-	-	5'_UTR	rs11540914	-	C=0/G=8588;C=6/G=4394;C=6/G=12982	lod=37:355	-	-	-	het	3
19	3	87276638	G	C	ENST00000472024	ENSG00000083937	87276421	87304698	-	CHMP2B	1	-	c.180G>C	p.R60R	syn	rs11540914	-	C=0/G=8588;C=6/G=4394;C=6/G=12982	lod=37:355	-	-	-	het	3
20	3	87276638	G	C	ENST00000494980	ENSG00000083937	87276421	87304698	ENSP00000418920	CHMP2B	1	-	-	-	5'_UTR	rs11540914	-	C=0/G=8588;C=6/G=4394;C=6/G=12982	lod=37:355	-	-	-	het	3

** 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 CHMP2B 3:87276421..87304698 region Gbrowse