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
PMD-VR_Virtual Registry
Collaboration
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 DMPK:

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
ENSG00000104936	DMPK	1	0	145	ENSG00000104936	ENST00000354227	ENSP00000346168	dystrophia myotonica-protein kinase [Source:HGNC Symbol;Acc:2933]	19	46272975	46285810	-1	q13.32	46273639	46285747	DMPK	DMPK-003	HGNC Symbol	HGNC transcript name	19	59.04	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	1760	2933	DMPK	NM_001288766	27526

MSeqDR Master Exome Data Set M1: 706 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	19	46272986	G	A	ENST00000291270	ENSG00000104936	46272975	46285810	ENSP00000291270	DMPK	-1	DMPK_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
2	19	46272986	G	A	ENST00000343373	ENSG00000104936	46272975	46285810	ENSP00000345997	DMPK	-1	DMPK_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
3	19	46272986	G	A	ENST00000588522	ENSG00000104936	46272975	46285810	ENSP00000468013	DMPK	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
4	19	46272986	G	A	ENST00000596686	ENSG00000104936	46272975	46285810	-	DMPK	-1	-	c.2491C>T	p.H831Y	non-syn	NA	-	-	-	-	-	-	het	1
5	19	46272986	G	A	ENST00000600757	ENSG00000104936	46272975	46285810	ENSP00000472965	DMPK	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
6	19	46273458	C	T	ENST00000291270	ENSG00000104936	46272975	46285810	ENSP00000291270	DMPK	-1	DMPK_HUMAN	-	-	3'_UTR	rs10419007	0.0318	-	-	-	-	-	het	3
7	19	46273458	C	T	ENST00000343373	ENSG00000104936	46272975	46285810	ENSP00000345997	DMPK	-1	DMPK_HUMAN	-	-	3'_UTR	rs10419007	0.0318	-	-	-	-	-	het	3
8	19	46273458	C	T	ENST00000447742	ENSG00000104936	46272975	46285810	ENSP00000413417	DMPK	-1	DMPK_HUMAN	-	-	3'_UTR	rs10419007	0.0318	-	-	-	-	-	het	3
9	19	46273458	C	T	ENST00000458663	ENSG00000104936	46272975	46285810	ENSP00000401753	DMPK	-1	DMPK_HUMAN	-	-	3'_UTR	rs10419007	0.0318	-	-	-	-	-	het	3
10	19	46273458	C	T	ENST00000588522	ENSG00000104936	46272975	46285810	ENSP00000468013	DMPK	-1	-	-	-	3'_UTR	rs10419007	0.0318	-	-	-	-	-	het	3
11	19	46273458	C	T	ENST00000596686	ENSG00000104936	46272975	46285810	-	DMPK	-1	-	c.2019G>A	p.G673G	syn	rs10419007	0.0318	-	-	-	-	-	het	3
12	19	46273458	C	T	ENST00000598272	ENSG00000104936	46272975	46285810	-	DMPK	-1	-	c.1166G>A	p.G389E	non-syn	rs10419007	0.0318	-	-	-	-	-	het	3
13	19	46273458	C	T	ENST00000600757	ENSG00000104936	46272975	46285810	ENSP00000472965	DMPK	-1	-	-	-	3'_UTR	rs10419007	0.0318	-	-	-	-	-	het	3
14	19	46273462	C	-CAGCAGCAGCAGCAGCAGCAGCAGCAG	ENST00000291270	ENSG00000104936	46272975	46285810	ENSP00000291270	DMPK	-1	DMPK_HUMAN	-	-	3'_UTR	rs72356891	-	-	-	-	-	-	hom	1
15	19	46273462	C	-CAGCAGCAGCAGCAGCAGCAGCAGCAG	ENST00000291270	ENSG00000104936	46272975	46285810	ENSP00000291270	DMPK	-1	DMPK_HUMAN	-	-	3'_UTR	rs72356891	-	-	-	-	-	-	het	2
16	19	46273462	C	-CAGCAGCAGCAGCAGCAGCAGCAGCAG	ENST00000343373	ENSG00000104936	46272975	46285810	ENSP00000345997	DMPK	-1	DMPK_HUMAN	-	-	3'_UTR	rs72356891	-	-	-	-	-	-	hom	1
17	19	46273462	C	-CAGCAGCAGCAGCAGCAGCAGCAGCAG	ENST00000343373	ENSG00000104936	46272975	46285810	ENSP00000345997	DMPK	-1	DMPK_HUMAN	-	-	3'_UTR	rs72356891	-	-	-	-	-	-	het	2
18	19	46273462	C	-CAGCAGCAGCAGCAGCAGCAGCAGCAG	ENST00000447742	ENSG00000104936	46272975	46285810	ENSP00000413417	DMPK	-1	DMPK_HUMAN	-	-	3'_UTR	rs72356891	-	-	-	-	-	-	hom	1
19	19	46273462	C	-CAGCAGCAGCAGCAGCAGCAGCAGCAG	ENST00000447742	ENSG00000104936	46272975	46285810	ENSP00000413417	DMPK	-1	DMPK_HUMAN	-	-	3'_UTR	rs72356891	-	-	-	-	-	-	het	2
20	19	46273462	C	-CAGCAGCAGCAGCAGCAGCAGCAGCAG	ENST00000458663	ENSG00000104936	46272975	46285810	ENSP00000401753	DMPK	-1	DMPK_HUMAN	-	-	3'_UTR	rs72356891	-	-	-	-	-	-	hom	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.

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 DMPK 19:46272975..46285810 region Gbrowse