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 DAG1:

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
ENSG00000173402	DAG1	0	0	30	ENSG00000173402	ENST00000430636	ENSP00000401805	dystroglycan 1 (dystrophin-associated glycoprotein 1) [Source:HGNC Symbol;Acc:2666]	3	49506146	49573048	1	p21.31	49507752	49547993	DAG1	DAG1-012	HGNC Symbol	HGNC transcript name	22	47.52	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	1605	2666	DAG1		27517

MSeqDR Master Exome Data Set M1: 480 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	49506269	C	+A	ENST00000469139	ENSG00000173402	49506146	49573048	-	DAG1	1	-	c.124_125insA	p.Q42NA	non-syn	rs143195513	-	-	-	-	-	-	het	2
2	3	49506269	C	+A	ENST00000515359	ENSG00000173402	49506146	49573048	ENSP00000440705	DAG1	1	DAG1_HUMAN	-	-	5'_UTR	rs143195513	-	-	-	-	-	-	het	2
3	3	49506299	C	T	ENST00000469139	ENSG00000173402	49506146	49573048	-	DAG1	1	-	c.154C>T	p.Q52*	non-syn	rs6797164	0.9965	-	-	-	-	-	hom	2
4	3	49506299	C	T	ENST00000515359	ENSG00000173402	49506146	49573048	ENSP00000440705	DAG1	1	DAG1_HUMAN	-	-	5'_UTR	rs6797164	0.9965	-	-	-	-	-	hom	2
5	3	49507847	G	A	ENST00000308775	ENSG00000173402	49506146	49573048	ENSP00000312435	DAG1	1	DAG1_HUMAN	-	-	5'_UTR	rs4855839	0.4952	-	lod=31:336	-	-	-	het	1
6	3	49507847	G	A	ENST00000308775	ENSG00000173402	49506146	49573048	ENSP00000312435	DAG1	1	DAG1_HUMAN	-	-	5'_UTR	rs4855839	0.4952	-	lod=31:336	-	-	-	hom	1
7	3	49507847	G	A	ENST00000418588	ENSG00000173402	49506146	49573048	ENSP00000405859	DAG1	1	-	-	-	5'_UTR	rs4855839	0.4952	-	lod=31:336	-	-	-	het	1
8	3	49507847	G	A	ENST00000418588	ENSG00000173402	49506146	49573048	ENSP00000405859	DAG1	1	-	-	-	5'_UTR	rs4855839	0.4952	-	lod=31:336	-	-	-	hom	1
9	3	49507847	G	A	ENST00000419218	ENSG00000173402	49506146	49573048	ENSP00000402443	DAG1	1	-	-	-	5'_UTR	rs4855839	0.4952	-	lod=31:336	-	-	-	het	1
10	3	49507847	G	A	ENST00000419218	ENSG00000173402	49506146	49573048	ENSP00000402443	DAG1	1	-	-	-	5'_UTR	rs4855839	0.4952	-	lod=31:336	-	-	-	hom	1
11	3	49507847	G	A	ENST00000428779	ENSG00000173402	49506146	49573048	ENSP00000401382	DAG1	1	-	-	-	5'_UTR	rs4855839	0.4952	-	lod=31:336	-	-	-	het	1
12	3	49507847	G	A	ENST00000428779	ENSG00000173402	49506146	49573048	ENSP00000401382	DAG1	1	-	-	-	5'_UTR	rs4855839	0.4952	-	lod=31:336	-	-	-	hom	1
13	3	49507847	G	A	ENST00000430636	ENSG00000173402	49506146	49573048	ENSP00000401805	DAG1	1	-	-	-	5'_UTR	rs4855839	0.4952	-	lod=31:336	-	-	-	het	1
14	3	49507847	G	A	ENST00000430636	ENSG00000173402	49506146	49573048	ENSP00000401805	DAG1	1	-	-	-	5'_UTR	rs4855839	0.4952	-	lod=31:336	-	-	-	hom	1
15	3	49507847	G	A	ENST00000435508	ENSG00000173402	49506146	49573048	ENSP00000415321	DAG1	1	-	-	-	5'_UTR	rs4855839	0.4952	-	lod=31:336	-	-	-	het	1
16	3	49507847	G	A	ENST00000435508	ENSG00000173402	49506146	49573048	ENSP00000415321	DAG1	1	-	-	-	5'_UTR	rs4855839	0.4952	-	lod=31:336	-	-	-	hom	1
17	3	49507847	G	A	ENST00000452060	ENSG00000173402	49506146	49573048	ENSP00000410145	DAG1	1	-	-	-	5'_UTR	rs4855839	0.4952	-	lod=31:336	-	-	-	het	1
18	3	49507847	G	A	ENST00000452060	ENSG00000173402	49506146	49573048	ENSP00000410145	DAG1	1	-	-	-	5'_UTR	rs4855839	0.4952	-	lod=31:336	-	-	-	hom	1
19	3	49507847	G	A	ENST00000452317	ENSG00000173402	49506146	49573048	ENSP00000387859	DAG1	1	-	-	-	5'_UTR	rs4855839	0.4952	-	lod=31:336	-	-	-	het	1
20	3	49507847	G	A	ENST00000452317	ENSG00000173402	49506146	49573048	ENSP00000387859	DAG1	1	-	-	-	5'_UTR	rs4855839	0.4952	-	lod=31:336	-	-	-	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 DAG1 3:49506146..49573048 region Gbrowse