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 EEF2:

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
ENSG00000167658	EEF2	0	0	3	ENSG00000167658	ENST00000600794	ENSP00000471265	eukaryotic translation elongation factor 2 [Source:HGNC Symbol;Acc:3214]	19	3976054	3985467	-1	p13.3	3976054	3978132	EEF2	EEF2-011	HGNC Symbol	HGNC transcript name	7	59.53	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	PUTATIVE	1938	3214	EEF2		27526

MSeqDR Master Exome Data Set M1: 104 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	3976365	G	A	ENST00000309311	ENSG00000167658	3976054	3985467	ENSP00000307940	EEF2	-1	EF2_HUMAN	-	-	3'_UTR	NA	-	-	lod=47:381	-	-	-	hom	1
2	19	3976422	G	A	ENST00000309311	ENSG00000167658	3976054	3985467	ENSP00000307940	EEF2	-1	EF2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
3	19	3976441	G	A	ENST00000309311	ENSG00000167658	3976054	3985467	ENSP00000307940	EEF2	-1	EF2_HUMAN	-	-	3'_UTR	rs2230567	0.2652	-	-	-	-	-	hom	1
4	19	3976441	G	A	ENST00000309311	ENSG00000167658	3976054	3985467	ENSP00000307940	EEF2	-1	EF2_HUMAN	-	-	3'_UTR	rs2230567	0.2652	-	-	-	-	-	het	6
5	19	3976496	G	A	ENST00000309311	ENSG00000167658	3976054	3985467	ENSP00000307940	EEF2	-1	EF2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	10
6	19	3976549	C	T	ENST00000309311	ENSG00000167658	3976054	3985467	ENSP00000307940	EEF2	-1	EF2_HUMAN	-	-	3'_UTR	rs2230566	0.2652	T=11/C=8587;T=1340/C=3064;T=1351/C=11651	-	-	-	-	het	20
7	19	3976599	G	A	ENST00000309311	ENSG00000167658	3976054	3985467	ENSP00000307940	EEF2	-1	EF2_HUMAN	c.2530C>T	p.L844L	syn	rs34012995	0.0098	A=1/G=8597;A=49/G=4357;A=50/G=12954	lod=210:541	-	-	-	het	1
8	19	3976669	C	G	ENST00000309311	ENSG00000167658	3976054	3985467	ENSP00000307940	EEF2	-1	EF2_HUMAN	c.2460G>C	p.L820L	syn	rs145279867	-	G=27/C=8569;G=1/C=4405;G=28/C=12974	lod=233:552	-	-	-	het	5
9	19	3976705	C	T	ENST00000309311	ENSG00000167658	3976054	3985467	ENSP00000307940	EEF2	-1	EF2_HUMAN	c.2424G>A	p.A808A	syn	rs2230565	0.0509	T=0/C=8598;T=309/C=4089;T=309/C=12687	lod=121:482	-	-	-	het	3
10	19	3976714	G	A	ENST00000309311	ENSG00000167658	3976054	3985467	ENSP00000307940	EEF2	-1	EF2_HUMAN	c.2415C>T	p.G805G	syn	rs143122141	-	A=12/G=8582;A=1/G=4391;A=13/G=12973	lod=23:304	-	-	-	het	3
11	19	3976760	G	A	ENST00000309311	ENSG00000167658	3976054	3985467	ENSP00000307940	EEF2	-1	EF2_HUMAN	-	-	-15bp 3'_splice_site	rs74724893	0.009	A=56/G=8532;A=5/G=4385;A=61/G=12917	-	-	-	-	het	4
12	19	3977217	G	A	ENST00000309311	ENSG00000167658	3976054	3985467	ENSP00000307940	EEF2	-1	EF2_HUMAN	c.2379C>T	p.S793S	syn	rs151205847	-	A=1/G=8599;A=52/G=4354;A=53/G=12953	lod=53:393	-	-	-	het	1
13	19	3977229	G	A	ENST00000309311	ENSG00000167658	3976054	3985467	ENSP00000307940	EEF2	-1	EF2_HUMAN	c.2367C>T	p.P789P	syn	NA	-	-	lod=143:500	-	-	-	het	1
14	19	3977289	G	A	ENST00000309311	ENSG00000167658	3976054	3985467	ENSP00000307940	EEF2	-1	EF2_HUMAN	c.2307C>T	p.H769H	syn	rs35805642	0.0121	A=121/G=8473;A=15/G=4391;A=136/G=12864	lod=229:550	-	-	-	het	35
15	19	3977289	G	A	ENST00000309311	ENSG00000167658	3976054	3985467	ENSP00000307940	EEF2	-1	EF2_HUMAN	c.2307C>T	p.H769H	syn	rs35805642	0.0121	A=121/G=8473;A=15/G=4391;A=136/G=12864	lod=229:550	-	-	-	hom	1
16	19	3977316	G	A	ENST00000309311	ENSG00000167658	3976054	3985467	ENSP00000307940	EEF2	-1	EF2_HUMAN	c.2280C>T	p.Y760Y	syn	NA	-	A=1/G=8589;A=0/G=4398;A=1/G=12987	lod=54:395	-	-	-	het	2
17	19	3977361	G	C	ENST00000309311	ENSG00000167658	3976054	3985467	ENSP00000307940	EEF2	-1	EF2_HUMAN	-	-	-16bp 3'_splice_site	NA	-	-	-	-	-	-	het	1
18	19	3977364	A	T	ENST00000309311	ENSG00000167658	3976054	3985467	ENSP00000307940	EEF2	-1	EF2_HUMAN	-	-	-19bp 3'_splice_site	rs147961884	0.0033	T=28/A=8562;T=2/A=4390;T=30/A=12952	-	-	-	-	het	6
19	19	3977413	G	A	ENST00000309311	ENSG00000167658	3976054	3985467	ENSP00000307940	EEF2	-1	EF2_HUMAN	-	-	+13bp 5'_splice_site	rs202184545	-	A=114/G=8484;A=8/G=4392;A=122/G=12876	-	-	-	-	het	26
20	19	3977413	G	A	ENST00000309311	ENSG00000167658	3976054	3985467	ENSP00000307940	EEF2	-1	EF2_HUMAN	-	-	+13bp 5'_splice_site	rs202184545	-	A=114/G=8484;A=8/G=4392;A=122/G=12876	-	-	-	-	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 EEF2 19:3976054..3985467 region Gbrowse