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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 EPHX2:

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
ENSG00000120915	EPHX2	1	0	1	ENSG00000120915	ENST00000521400	ENSP00000430269	epoxide hydrolase 2, cytoplasmic [Source:HGNC Symbol;Acc:3402]	8	27348296	27403081	1	p21.2	27348296	27403081	EPHX2	EPHX2-001	HGNC Symbol	HGNC transcript name	12	47.54	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	2053	3402	EPHX2	NM_001979	27523

MSeqDR Master Exome Data Set M1: 462 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	8	27348374	C	T	ENST00000518328	ENSG00000120915	27348296	27403081	ENSP00000430779	EPHX2	1	-	-	-	+19bp 5'_splice_site	NA	-	-	-	-	-	-	het	3
2	8	27348374	C	T	ENST00000521400	ENSG00000120915	27348296	27403081	ENSP00000430269	EPHX2	1	HYES_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3
3	8	27348379	G	C	ENST00000521400	ENSG00000120915	27348296	27403081	ENSP00000430269	EPHX2	1	HYES_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
4	8	27348387	G	A	ENST00000521400	ENSG00000120915	27348296	27403081	ENSP00000430269	EPHX2	1	HYES_HUMAN	-	-	5'_UTR	rs62504268	0.1447	-	-	-	-	-	hom	5
5	8	27348387	G	A	ENST00000521400	ENSG00000120915	27348296	27403081	ENSP00000430269	EPHX2	1	HYES_HUMAN	-	-	5'_UTR	rs62504268	0.1447	-	-	-	-	-	het	131
6	8	27348466	T	+G	ENST00000521400	ENSG00000120915	27348296	27403081	ENSP00000430269	EPHX2	1	HYES_HUMAN	-	-	5'_UTR	rs150415266	-	-	-	-	-	-	het	3
7	8	27348593	G	T	ENST00000521400	ENSG00000120915	27348296	27403081	ENSP00000430269	EPHX2	1	HYES_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
8	8	27348619	C	A	ENST00000521400	ENSG00000120915	27348296	27403081	ENSP00000430269	EPHX2	1	HYES_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
9	8	27348626	G	T	ENST00000521400	ENSG00000120915	27348296	27403081	ENSP00000430269	EPHX2	1	HYES_HUMAN	-	-	5'_UTR	rs72473929	0.0897	-	-	-	-	-	het	24
10	8	27348626	G	T	ENST00000521400	ENSG00000120915	27348296	27403081	ENSP00000430269	EPHX2	1	HYES_HUMAN	-	-	5'_UTR	rs72473929	0.0897	-	-	-	-	-	hom	1
11	8	27348673	C	T	ENST00000517536	ENSG00000120915	27348296	27403081	ENSP00000428875	EPHX2	1	-	-	-	5'_UTR	rs75302548	0.0344	-	-	-	-	-	het	3
12	8	27348673	C	T	ENST00000518328	ENSG00000120915	27348296	27403081	ENSP00000430779	EPHX2	1	-	-	-	-12bp 3'_splice_site	rs75302548	0.0344	-	-	-	-	-	het	3
13	8	27348673	C	T	ENST00000520623	ENSG00000120915	27348296	27403081	-	EPHX2	1	-	c.32C>T	p.A11V	non-syn	rs75302548	0.0344	-	-	-	-	-	het	3
14	8	27348673	C	T	ENST00000521400	ENSG00000120915	27348296	27403081	ENSP00000430269	EPHX2	1	HYES_HUMAN	-	-	5'_UTR	rs75302548	0.0344	-	-	-	-	-	het	3
15	8	27348673	C	T	ENST00000521780	ENSG00000120915	27348296	27403081	ENSP00000430302	EPHX2	1	HYES_HUMAN	-	-	5'_UTR	rs75302548	0.0344	-	-	-	-	-	het	3
16	8	27348691	T	C	ENST00000380476	ENSG00000120915	27348296	27403081	ENSP00000369843	EPHX2	1	HYES_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	4
17	8	27348691	T	C	ENST00000517536	ENSG00000120915	27348296	27403081	ENSP00000428875	EPHX2	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	4
18	8	27348691	T	C	ENST00000518328	ENSG00000120915	27348296	27403081	ENSP00000430779	EPHX2	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	4
19	8	27348691	T	C	ENST00000520623	ENSG00000120915	27348296	27403081	-	EPHX2	1	-	c.50T>C	p.L17P	non-syn	NA	-	-	-	-	-	-	het	4
20	8	27348691	T	C	ENST00000521400	ENSG00000120915	27348296	27403081	ENSP00000430269	EPHX2	1	HYES_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	4

** 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.

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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding EPHX2 8:27348296..27403081 region Gbrowse