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 ELN:

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
ENSG00000049540	ELN	1	0	77	ENSG00000049540	ENST00000473323		elastin [Source:HGNC Symbol;Acc:3327]	7	73442119	73484237	1	q11.23	73442506	73457569	ELN	ELN-026	HGNC Symbol	HGNC transcript name	33	54.95	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	2006	3327	ELN		27506
ENSG00000262184	ELN	1	0	77	ENSG00000262184	ENST00000575799		elastin [Source:HGNC Symbol;Acc:3327]	HG1257_PATCH	73492746	73534864	1	q11.23	73493130	73508241	ELN	ELN-017	HGNC Symbol	HGNC transcript name	33	54.95	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	2006	3327	ELN		1000558270

Please limit to single gene from the list by clicking

or searching from top right search box.

MSeqDR Master Exome Data Set M1: 1302 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	7	73442142	A	G	ENST00000252034	ENSG00000049540	73442119	73484237	ENSP00000252034	ELN	1	ELN_HUMAN	-	-	5'_UTR	NA	-	-	lod=192:531	-	-	-	het	3
2	7	73442142	A	G	ENST00000445912	ENSG00000049540	73442119	73484237	ENSP00000389857	ELN	1	-	-	-	5'_UTR	NA	-	-	lod=192:531	-	-	-	het	3
3	7	73442159	G	A	ENST00000252034	ENSG00000049540	73442119	73484237	ENSP00000252034	ELN	1	ELN_HUMAN	-	-	5'_UTR	NA	-	-	lod=192:531	-	-	-	het	1
4	7	73442159	G	A	ENST00000445912	ENSG00000049540	73442119	73484237	ENSP00000389857	ELN	1	-	-	-	5'_UTR	NA	-	-	lod=192:531	-	-	-	het	1
5	7	73442334	G	A	ENST00000252034	ENSG00000049540	73442119	73484237	ENSP00000252034	ELN	1	ELN_HUMAN	-	-	5'_UTR	NA	-	-	lod=25:313	-	-	-	het	4
6	7	73442334	G	A	ENST00000445912	ENSG00000049540	73442119	73484237	ENSP00000389857	ELN	1	-	-	-	5'_UTR	NA	-	-	lod=25:313	-	-	-	het	4
7	7	73442448	G	A	ENST00000252034	ENSG00000049540	73442119	73484237	ENSP00000252034	ELN	1	ELN_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
8	7	73442448	G	A	ENST00000320492	ENSG00000049540	73442119	73484237	ENSP00000315607	ELN	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
9	7	73442448	G	A	ENST00000358929	ENSG00000049540	73442119	73484237	ENSP00000351807	ELN	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
10	7	73442448	G	A	ENST00000431562	ENSG00000049540	73442119	73484237	ENSP00000394549	ELN	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
11	7	73442448	G	A	ENST00000438906	ENSG00000049540	73442119	73484237	ENSP00000406949	ELN	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
12	7	73442448	G	A	ENST00000445912	ENSG00000049540	73442119	73484237	ENSP00000389857	ELN	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
13	7	73442448	G	A	ENST00000494160	ENSG00000049540	73442119	73484237	-	ELN	1	-	c.5G>A	p.R2Q	non-syn	NA	-	-	-	-	-	-	het	1
14	7	73442480	C	T	ENST00000252034	ENSG00000049540	73442119	73484237	ENSP00000252034	ELN	1	ELN_HUMAN	-	-	5'_UTR	rs41410045	0.0258	T=75/C=8511;T=7/C=4377;T=82/C=12888	lod=194:532	-	-	-	hom	1
15	7	73442480	C	T	ENST00000252034	ENSG00000049540	73442119	73484237	ENSP00000252034	ELN	1	ELN_HUMAN	-	-	5'_UTR	rs41410045	0.0258	T=75/C=8511;T=7/C=4377;T=82/C=12888	lod=194:532	-	-	-	het	28
16	7	73442480	C	T	ENST00000320492	ENSG00000049540	73442119	73484237	ENSP00000315607	ELN	1	-	-	-	5'_UTR	rs41410045	0.0258	T=75/C=8511;T=7/C=4377;T=82/C=12888	lod=194:532	-	-	-	hom	1
17	7	73442480	C	T	ENST00000320492	ENSG00000049540	73442119	73484237	ENSP00000315607	ELN	1	-	-	-	5'_UTR	rs41410045	0.0258	T=75/C=8511;T=7/C=4377;T=82/C=12888	lod=194:532	-	-	-	het	28
18	7	73442480	C	T	ENST00000358929	ENSG00000049540	73442119	73484237	ENSP00000351807	ELN	1	-	-	-	5'_UTR	rs41410045	0.0258	T=75/C=8511;T=7/C=4377;T=82/C=12888	lod=194:532	-	-	-	hom	1
19	7	73442480	C	T	ENST00000358929	ENSG00000049540	73442119	73484237	ENSP00000351807	ELN	1	-	-	-	5'_UTR	rs41410045	0.0258	T=75/C=8511;T=7/C=4377;T=82/C=12888	lod=194:532	-	-	-	het	28
20	7	73442480	C	T	ENST00000380562	ENSG00000049540	73442119	73484237	ENSP00000369936	ELN	1	ELN_HUMAN	-	-	5'_UTR	rs41410045	0.0258	T=75/C=8511;T=7/C=4377;T=82/C=12888	lod=194:532	-	-	-	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 ELN 7:73442119..73484237 region Gbrowse