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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 PEX2:

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
ENSG00000164751	PEX2	0	0	11	ENSG00000164751	ENST00000357039	ENSP00000349543	peroxisomal biogenesis factor 2 [Source:HGNC Symbol;Acc:9717]	8	77892494	77913280	-1	q21.11	77892494	77912462	PEX2	PEX2-001	HGNC Symbol	HGNC transcript name	7	38.37	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	5828	9717	PEX2	NM_000318	27523

MSeqDR Master Exome Data Set M1: 185 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	77892603	A	G	ENST00000357039	ENSG00000164751	77892494	77913280	ENSP00000349543	PEX2	-1	PEX2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
2	8	77892603	A	G	ENST00000419564	ENSG00000164751	77892494	77913280	ENSP00000400984	PEX2	-1	PEX2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
3	8	77892718	T	C	ENST00000357039	ENSG00000164751	77892494	77913280	ENSP00000349543	PEX2	-1	PEX2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
4	8	77892718	T	C	ENST00000419564	ENSG00000164751	77892494	77913280	ENSP00000400984	PEX2	-1	PEX2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
5	8	77892817	T	G	ENST00000357039	ENSG00000164751	77892494	77913280	ENSP00000349543	PEX2	-1	PEX2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	21
6	8	77892817	T	G	ENST00000419564	ENSG00000164751	77892494	77913280	ENSP00000400984	PEX2	-1	PEX2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	21
7	8	77892834	A	T	ENST00000357039	ENSG00000164751	77892494	77913280	ENSP00000349543	PEX2	-1	PEX2_HUMAN	-	-	3'_UTR	rs28435921	0.56275	-	-	-	-	-	het	289
8	8	77892834	A	T	ENST00000357039	ENSG00000164751	77892494	77913280	ENSP00000349543	PEX2	-1	PEX2_HUMAN	-	-	3'_UTR	rs28435921	0.56275	-	-	-	-	-	hom	244
9	8	77892834	A	T	ENST00000419564	ENSG00000164751	77892494	77913280	ENSP00000400984	PEX2	-1	PEX2_HUMAN	-	-	3'_UTR	rs28435921	0.56275	-	-	-	-	-	het	289
10	8	77892834	A	T	ENST00000419564	ENSG00000164751	77892494	77913280	ENSP00000400984	PEX2	-1	PEX2_HUMAN	-	-	3'_UTR	rs28435921	0.56275	-	-	-	-	-	hom	244
11	8	77892843	C	T	ENST00000357039	ENSG00000164751	77892494	77913280	ENSP00000349543	PEX2	-1	PEX2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
12	8	77892843	C	T	ENST00000419564	ENSG00000164751	77892494	77913280	ENSP00000400984	PEX2	-1	PEX2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
13	8	77892902	T	C	ENST00000357039	ENSG00000164751	77892494	77913280	ENSP00000349543	PEX2	-1	PEX2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
14	8	77892902	T	C	ENST00000419564	ENSG00000164751	77892494	77913280	ENSP00000400984	PEX2	-1	PEX2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
15	8	77892943	C	T	ENST00000357039	ENSG00000164751	77892494	77913280	ENSP00000349543	PEX2	-1	PEX2_HUMAN	-	-	3'_UTR	rs116215385	0.0197	-	-	-	-	-	het	2
16	8	77892943	C	T	ENST00000419564	ENSG00000164751	77892494	77913280	ENSP00000400984	PEX2	-1	PEX2_HUMAN	-	-	3'_UTR	rs116215385	0.0197	-	-	-	-	-	het	2
17	8	77892978	C	T	ENST00000357039	ENSG00000164751	77892494	77913280	ENSP00000349543	PEX2	-1	PEX2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
18	8	77892978	C	T	ENST00000419564	ENSG00000164751	77892494	77913280	ENSP00000400984	PEX2	-1	PEX2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
19	8	77893051	G	A	ENST00000357039	ENSG00000164751	77892494	77913280	ENSP00000349543	PEX2	-1	PEX2_HUMAN	-	-	3'_UTR	rs73242165	0.0913	-	-	-	-	-	het	5
20	8	77893051	G	A	ENST00000419564	ENSG00000164751	77892494	77913280	ENSP00000400984	PEX2	-1	PEX2_HUMAN	-	-	3'_UTR	rs73242165	0.0913	-	-	-	-	-	het	5

** 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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Transcripts and variants in the surrounding PEX2 8:77892494..77913280 region Gbrowse