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 EPHA2:

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
ENSG00000142627	EPHA2	0	0	5	ENSG00000142627	ENST00000358432	ENSP00000351209	EPH receptor A2 [Source:HGNC Symbol;Acc:3386]	1	16450832	16482582	-1	p36.13	16450832	16482582	EPHA2	EPHA2-001	HGNC Symbol	HGNC transcript name	4	57.33	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	1969	3386	EPHA2	NM_004431	27511

MSeqDR Master Exome Data Set M1: 125 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	1	16450895	T	+A	ENST00000358432	ENSG00000142627	16450832	16482582	ENSP00000351209	EPHA2	-1	EPHA2_HUMAN	-	-	3'_UTR	NA	-	-	lod=243:556	-	-	-	het	1
2	1	16450968	A	T	ENST00000358432	ENSG00000142627	16450832	16482582	ENSP00000351209	EPHA2	-1	EPHA2_HUMAN	-	-	3'_UTR	rs111512184	0.0692	-	-	-	-	-	het	2
3	1	16450973	T	C	ENST00000358432	ENSG00000142627	16450832	16482582	ENSP00000351209	EPHA2	-1	EPHA2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
4	1	16450996	C	T	ENST00000358432	ENSG00000142627	16450832	16482582	ENSP00000351209	EPHA2	-1	EPHA2_HUMAN	-	-	3'_UTR	rs78569898	0.0725	-	-	-	-	-	het	3
5	1	16451042	C	A	ENST00000358432	ENSG00000142627	16450832	16482582	ENSP00000351209	EPHA2	-1	EPHA2_HUMAN	-	-	3'_UTR	rs146367469	0.0022	-	-	-	-	-	het	5
6	1	16451052	C	T	ENST00000358432	ENSG00000142627	16450832	16482582	ENSP00000351209	EPHA2	-1	EPHA2_HUMAN	-	-	3'_UTR	NA	-	-	lod=14:251	-	-	-	het	1
7	1	16451267	A	G	ENST00000358432	ENSG00000142627	16450832	16482582	ENSP00000351209	EPHA2	-1	EPHA2_HUMAN	-	-	3'_UTR	rs113810531	0.054	-	-	-	-	-	het	3
8	1	16451303	G	A	ENST00000358432	ENSG00000142627	16450832	16482582	ENSP00000351209	EPHA2	-1	EPHA2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
9	1	16451355	T	C	ENST00000358432	ENSG00000142627	16450832	16482582	ENSP00000351209	EPHA2	-1	EPHA2_HUMAN	-	-	3'_UTR	rs140956748	0.00098	-	-	-	-	-	het	7
10	1	16451413	C	T	ENST00000358432	ENSG00000142627	16450832	16482582	ENSP00000351209	EPHA2	-1	EPHA2_HUMAN	-	-	3'_UTR	rs1803527	0.9569	-	-	-	-	-	het	55
11	1	16451413	C	T	ENST00000358432	ENSG00000142627	16450832	16482582	ENSP00000351209	EPHA2	-1	EPHA2_HUMAN	-	-	3'_UTR	rs1803527	0.9569	-	-	-	-	-	hom	644
12	1	16451426	G	A	ENST00000358432	ENSG00000142627	16450832	16482582	ENSP00000351209	EPHA2	-1	EPHA2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
13	1	16451543	C	T	ENST00000358432	ENSG00000142627	16450832	16482582	ENSP00000351209	EPHA2	-1	EPHA2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
14	1	16451544	C	T	ENST00000358432	ENSG00000142627	16450832	16482582	ENSP00000351209	EPHA2	-1	EPHA2_HUMAN	-	-	3'_UTR	rs11543935	0.0604	-	-	-	-	-	het	3
15	1	16451722	C	T	ENST00000358432	ENSG00000142627	16450832	16482582	ENSP00000351209	EPHA2	-1	EPHA2_HUMAN	c.2919G>A	p.G973G	syn	rs114895977	0.0194	T=13/C=8587;T=44/C=4362;T=57/C=12949	lod=62:410	-	-	-	het	11
16	1	16451722	C	T	ENST00000358432	ENSG00000142627	16450832	16482582	ENSP00000351209	EPHA2	-1	EPHA2_HUMAN	c.2919G>A	p.G973G	syn	rs114895977	0.0194	T=13/C=8587;T=44/C=4362;T=57/C=12949	lod=62:410	-	-	-	hom	1
17	1	16451737	C	G	ENST00000358432	ENSG00000142627	16450832	16482582	ENSP00000351209	EPHA2	-1	EPHA2_HUMAN	c.2904G>C	p.Q968H	non-syn	rs138818894	-	G=30/C=8570;G=3/C=4403;G=33/C=12973	lod=83:441	TOLERATED	B	-	het	4
18	1	16451766	C	T	ENST00000358432	ENSG00000142627	16450832	16482582	ENSP00000351209	EPHA2	-1	EPHA2_HUMAN	c.2875G>A	p.A959T	non-syn	rs139787163	-	T=3/C=8597;T=0/C=4406;T=3/C=13003	lod=218:545	DAMAGING	D	-	het	1
19	1	16451767	G	A	ENST00000358432	ENSG00000142627	16450832	16482582	ENSP00000351209	EPHA2	-1	EPHA2_HUMAN	c.2874C>T	p.I958I	syn	rs3754334	0.3151	A=2419/G=6181;A=545/G=3861;A=2964/G=10042	lod=218:545	-	-	HGMD	het	360
20	1	16451767	G	A	ENST00000358432	ENSG00000142627	16450832	16482582	ENSP00000351209	EPHA2	-1	EPHA2_HUMAN	c.2874C>T	p.I958I	syn	rs3754334	0.3151	A=2419/G=6181;A=545/G=3861;A=2964/G=10042	lod=218:545	-	-	HGMD	hom	68

** 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 EPHA2 1:16450832..16482582 region Gbrowse