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 ENSG00000198763:

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
ENSG00000198763	MT-ND2	1	239	6	ENSG00000198763	ENST00000361453	ENSP00000355046	mitochondrially encoded NADH dehydrogenase 2 [Source:HGNC Symbol;Acc:7456]	M	4470	5511	1		4470	5511	MT-ND2	MT-ND2-201	HGNC Symbol	HGNC transcript name	1	42.99	protein_coding	protein_coding	insdc	insdc	KNOWN	KNOWN	4536	7456	MT-ND2		100965601

MSeqDR Master Exome Data Set M1: 96 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	M	4484	C	T	ENST00000361453	ENSG00000198763	4470	5511	ENSP00000355046	MT-ND2	1	NU2M_HUMAN	c.15C>T	p.A5A	syn	NA	-	-	-	-	-	-	hom	1
2	M	4491	G	A	ENST00000361453	ENSG00000198763	4470	5511	ENSP00000355046	MT-ND2	1	NU2M_HUMAN	c.22G>A	p.V8I	non-syn	NA	-	-	-	-	-	-	hom	1
3	M	4512	G	A	ENST00000361453	ENSG00000198763	4470	5511	ENSP00000355046	MT-ND2	1	NU2M_HUMAN	c.43G>A	p.A15T	non-syn	NA	-	-	-	-	-	-	hom	1
4	M	4529	A	T	ENST00000361453	ENSG00000198763	4470	5511	ENSP00000355046	MT-ND2	1	NU2M_HUMAN	c.60A>T	p.T20T	syn	rs9701642	-	-	lod=14:251	-	-	-	hom	3
5	M	4670	C	T	ENST00000361453	ENSG00000198763	4470	5511	ENSP00000355046	MT-ND2	1	NU2M_HUMAN	c.201C>T	p.S67S	syn	NA	-	-	lod=17:272	-	-	-	hom	3
6	M	4679	T	C	ENST00000361453	ENSG00000198763	4470	5511	ENSP00000355046	MT-ND2	1	NU2M_HUMAN	c.210T>C	p.L70L	syn	NA	-	-	-	-	-	-	hom	1
7	M	4703	T	C	ENST00000361453	ENSG00000198763	4470	5511	ENSP00000355046	MT-ND2	1	NU2M_HUMAN	c.234T>C	p.N78N	syn	NA	-	-	-	-	-	-	het	1
8	M	4703	T	C	ENST00000361453	ENSG00000198763	4470	5511	ENSP00000355046	MT-ND2	1	NU2M_HUMAN	c.234T>C	p.N78N	syn	NA	-	-	-	-	-	-	hom	6
9	M	4715	A	G	ENST00000361453	ENSG00000198763	4470	5511	ENSP00000355046	MT-ND2	1	NU2M_HUMAN	c.246A>G	p.G82G	syn	rs28357976	-	-	lod=26:317	-	-	-	hom	9
10	M	4727	A	G	ENST00000361453	ENSG00000198763	4470	5511	ENSP00000355046	MT-ND2	1	NU2M_HUMAN	c.258A>G	p.M86M	syn	NA	-	-	-	-	-	-	hom	4
11	M	4732	A	G	ENST00000361453	ENSG00000198763	4470	5511	ENSP00000355046	MT-ND2	1	NU2M_HUMAN	c.263A>G	p.N88S	non-syn	NA	-	-	-	-	-	-	hom	5
12	M	4733	T	C	ENST00000361453	ENSG00000198763	4470	5511	ENSP00000355046	MT-ND2	1	NU2M_HUMAN	c.264T>C	p.N88N	syn	NA	-	-	-	-	-	-	hom	1
13	M	4735	C	A	ENST00000361453	ENSG00000198763	4470	5511	ENSP00000355046	MT-ND2	1	NU2M_HUMAN	c.266C>A	p.T89N	non-syn	NA	-	-	-	-	-	-	hom	4
14	M	4735	C	T	ENST00000361453	ENSG00000198763	4470	5511	ENSP00000355046	MT-ND2	1	NU2M_HUMAN	c.266C>T	p.T89I	non-syn	NA	-	-	-	-	-	-	hom	2
15	M	4745	A	G	ENST00000361453	ENSG00000198763	4470	5511	ENSP00000355046	MT-ND2	1	NU2M_HUMAN	c.276A>G	p.Q92Q	syn	NA	-	-	-	-	-	-	hom	2
16	M	4769	A	G	ENST00000361453	ENSG00000198763	4470	5511	ENSP00000355046	MT-ND2	1	NU2M_HUMAN	c.300A>G	p.M100M	syn	rs112070356	-	-	-	-	-	-	hom	186
17	M	4772	T	C	ENST00000361453	ENSG00000198763	4470	5511	ENSP00000355046	MT-ND2	1	NU2M_HUMAN	c.303T>C	p.A101A	syn	NA	-	-	lod=15:259	-	-	-	hom	1
18	M	4793	A	G	ENST00000361453	ENSG00000198763	4470	5511	ENSP00000355046	MT-ND2	1	NU2M_HUMAN	c.324A>G	p.M108M	syn	rs41485244	-	-	lod=29:329	-	-	-	hom	3
19	M	4820	G	A	ENST00000361453	ENSG00000198763	4470	5511	ENSP00000355046	MT-ND2	1	NU2M_HUMAN	c.351G>A	p.E117E	syn	rs113808434	-	-	lod=57:401	-	-	-	hom	11
20	M	4824	A	G	ENST00000361453	ENSG00000198763	4470	5511	ENSP00000355046	MT-ND2	1	NU2M_HUMAN	c.355A>G	p.T119A	non-syn	NA	-	-	-	-	-	-	hom	19

** 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 MT-ND2 M:4470..5511 region Gbrowse