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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 PEX5:

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
ENSG00000139197	PEX5	1	0	12	ENSG00000139197	ENST00000420616	ENSP00000410159	peroxisomal biogenesis factor 5 [Source:HGNC Symbol;Acc:9719]	12	7341281	7371170	1	p13.31	7342311	7362858	PEX5	PEX5-004	HGNC Symbol	HGNC transcript name	20	42.58	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	5830	9719	PEX5	NM_001131025	27519

MSeqDR Master Exome Data Set M1: 260 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	12	7342343	C	G	ENST00000266563	ENSG00000139197	7341281	7371170	ENSP00000266563	PEX5	1	PEX5_HUMAN	-	-	5'_UTR	rs12227917	0.3696	-	-	-	-	-	het	103
2	12	7342343	C	G	ENST00000266563	ENSG00000139197	7341281	7371170	ENSP00000266563	PEX5	1	PEX5_HUMAN	-	-	5'_UTR	rs12227917	0.3696	-	-	-	-	-	hom	95
3	12	7342343	C	G	ENST00000420616	ENSG00000139197	7341281	7371170	ENSP00000410159	PEX5	1	PEX5_HUMAN	-	-	5'_UTR	rs12227917	0.3696	-	-	-	-	-	het	103
4	12	7342343	C	G	ENST00000420616	ENSG00000139197	7341281	7371170	ENSP00000410159	PEX5	1	PEX5_HUMAN	-	-	5'_UTR	rs12227917	0.3696	-	-	-	-	-	hom	95
5	12	7342343	C	G	ENST00000434354	ENSG00000139197	7341281	7371170	ENSP00000407401	PEX5	1	PEX5_HUMAN	-	-	5'_UTR	rs12227917	0.3696	-	-	-	-	-	het	103
6	12	7342343	C	G	ENST00000434354	ENSG00000139197	7341281	7371170	ENSP00000407401	PEX5	1	PEX5_HUMAN	-	-	5'_UTR	rs12227917	0.3696	-	-	-	-	-	hom	95
7	12	7342343	C	G	ENST00000544456	ENSG00000139197	7341281	7371170	ENSP00000440833	PEX5	1	-	-	-	5'_UTR	rs12227917	0.3696	-	-	-	-	-	het	103
8	12	7342343	C	G	ENST00000544456	ENSG00000139197	7341281	7371170	ENSP00000440833	PEX5	1	-	-	-	5'_UTR	rs12227917	0.3696	-	-	-	-	-	hom	95
9	12	7342343	C	G	ENST00000545220	ENSG00000139197	7341281	7371170	-	PEX5	1	-	c.62C>G	p.P21R	non-syn	rs12227917	0.3696	-	-	-	-	-	het	103
10	12	7342343	C	G	ENST00000545220	ENSG00000139197	7341281	7371170	-	PEX5	1	-	c.62C>G	p.P21R	non-syn	rs12227917	0.3696	-	-	-	-	-	hom	95
11	12	7342343	C	G	ENST00000545574	ENSG00000139197	7341281	7371170	ENSP00000443500	PEX5	1	-	-	-	5'_UTR	rs12227917	0.3696	-	-	-	-	-	het	103
12	12	7342343	C	G	ENST00000545574	ENSG00000139197	7341281	7371170	ENSP00000443500	PEX5	1	-	-	-	5'_UTR	rs12227917	0.3696	-	-	-	-	-	hom	95
13	12	7342364	A	-GG	ENST00000266563	ENSG00000139197	7341281	7371170	ENSP00000266563	PEX5	1	PEX5_HUMAN	-	-	+18bp 5'_splice_site	rs200807978	-	-	-	-	-	-	hom	68
14	12	7342364	A	-GG	ENST00000266563	ENSG00000139197	7341281	7371170	ENSP00000266563	PEX5	1	PEX5_HUMAN	-	-	+18bp 5'_splice_site	rs200807978	-	-	-	-	-	-	het	140
15	12	7342364	A	-GG	ENST00000420616	ENSG00000139197	7341281	7371170	ENSP00000410159	PEX5	1	PEX5_HUMAN	-	-	5'_UTR	rs200807978	-	-	-	-	-	-	hom	68
16	12	7342364	A	-GG	ENST00000420616	ENSG00000139197	7341281	7371170	ENSP00000410159	PEX5	1	PEX5_HUMAN	-	-	5'_UTR	rs200807978	-	-	-	-	-	-	het	140
17	12	7342364	A	-GG	ENST00000434354	ENSG00000139197	7341281	7371170	ENSP00000407401	PEX5	1	PEX5_HUMAN	-	-	+18bp 5'_splice_site	rs200807978	-	-	-	-	-	-	hom	68
18	12	7342364	A	-GG	ENST00000434354	ENSG00000139197	7341281	7371170	ENSP00000407401	PEX5	1	PEX5_HUMAN	-	-	+18bp 5'_splice_site	rs200807978	-	-	-	-	-	-	het	140
19	12	7342364	A	-GG	ENST00000544456	ENSG00000139197	7341281	7371170	ENSP00000440833	PEX5	1	-	-	-	+18bp 5'_splice_site	rs200807978	-	-	-	-	-	-	hom	68
20	12	7342364	A	-GG	ENST00000544456	ENSG00000139197	7341281	7371170	ENSP00000440833	PEX5	1	-	-	-	+18bp 5'_splice_site	rs200807978	-	-	-	-	-	-	het	140

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Transcripts and variants in the surrounding PEX5 12:7341281..7371170 region Gbrowse