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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 PEX13:

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
ENSG00000162928	PEX13	1	0	5	ENSG00000162928	ENST00000444100	ENSP00000405184	peroxisomal biogenesis factor 13 [Source:HGNC Symbol;Acc:8855]	2	61244360	61279125	1	p16.1	61244360	61246202	PEX13	PEX13-002	HGNC Symbol	HGNC transcript name	5	39.79	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	PUTATIVE	5194	8855	PEX13		27508

MSeqDR Master Exome Data Set M1: 100 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	2	61244410	C	G	ENST00000444100	ENSG00000162928	61244360	61279125	ENSP00000405184	PEX13	1	-	-	-	5'_UTR	rs62150970	0.17257	-	-	-	-	-	het	171
2	2	61244410	C	G	ENST00000444100	ENSG00000162928	61244360	61279125	ENSP00000405184	PEX13	1	-	-	-	5'_UTR	rs62150970	0.17257	-	-	-	-	-	hom	21
3	2	61244450	A	G	ENST00000444100	ENSG00000162928	61244360	61279125	ENSP00000405184	PEX13	1	-	-	-	5'_UTR	rs62150971	0.06654	-	-	-	-	-	het	65
4	2	61244450	A	G	ENST00000444100	ENSG00000162928	61244360	61279125	ENSP00000405184	PEX13	1	-	-	-	5'_UTR	rs62150971	0.06654	-	-	-	-	-	hom	2
5	2	61244525	C	A	ENST00000444100	ENSG00000162928	61244360	61279125	ENSP00000405184	PEX13	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	5
6	2	61244625	C	T	ENST00000444100	ENSG00000162928	61244360	61279125	ENSP00000405184	PEX13	1	-	-	-	5'_UTR	rs112835494	-	-	lod=36:352	-	-	-	het	2
7	2	61244663	A	C	ENST00000444100	ENSG00000162928	61244360	61279125	ENSP00000405184	PEX13	1	-	-	-	5'_UTR	rs12988616	0.3149	-	-	-	-	-	het	177
8	2	61244663	A	C	ENST00000444100	ENSG00000162928	61244360	61279125	ENSP00000405184	PEX13	1	-	-	-	5'_UTR	rs12988616	0.3149	-	-	-	-	-	hom	24
9	2	61244676	T	-G	ENST00000444100	ENSG00000162928	61244360	61279125	ENSP00000405184	PEX13	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
10	2	61244827	C	T	ENST00000401576	ENSG00000162928	61244360	61279125	ENSP00000384738	PEX13	1	-	-	-	-4bp 3'_splice_site	NA	-	-	-	-	-	-	het	5
11	2	61244827	C	T	ENST00000444100	ENSG00000162928	61244360	61279125	ENSP00000405184	PEX13	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	5
12	2	61244889	G	C	ENST00000295030	ENSG00000162928	61244360	61279125	ENSP00000295030	PEX13	1	PEX13_HUMAN	-	-	5'_UTR	rs147461642	0.0042	-	-	-	-	-	het	3
13	2	61244889	G	C	ENST00000401576	ENSG00000162928	61244360	61279125	ENSP00000384738	PEX13	1	-	-	-	5'_UTR	rs147461642	0.0042	-	-	-	-	-	het	3
14	2	61244889	G	C	ENST00000414712	ENSG00000162928	61244360	61279125	ENSP00000405413	PEX13	1	-	-	-	5'_UTR	rs147461642	0.0042	-	-	-	-	-	het	3
15	2	61244889	G	C	ENST00000444100	ENSG00000162928	61244360	61279125	ENSP00000405184	PEX13	1	-	-	-	5'_UTR	rs147461642	0.0042	-	-	-	-	-	het	3
16	2	61244889	G	C	ENST00000472678	ENSG00000162928	61244360	61279125	-	PEX13	1	-	c.35G>C	p.G12A	non-syn	rs147461642	0.0042	-	-	-	-	-	het	3
17	2	61244926	C	T	ENST00000295030	ENSG00000162928	61244360	61279125	ENSP00000295030	PEX13	1	PEX13_HUMAN	c.32C>T	p.P11L	non-syn	NA	-	-	lod=105:467	DAMAGING	P	-	het	2
18	2	61244926	C	T	ENST00000401576	ENSG00000162928	61244360	61279125	ENSP00000384738	PEX13	1	-	c.32C>T	p.P11L	non-syn	NA	-	-	lod=105:467	DAMAGING	P	-	het	2
19	2	61244926	C	T	ENST00000414712	ENSG00000162928	61244360	61279125	ENSP00000405413	PEX13	1	-	c.32C>T	p.P11L	non-syn	NA	-	-	lod=105:467	DAMAGING	P	-	het	2
20	2	61244926	C	T	ENST00000444100	ENSG00000162928	61244360	61279125	ENSP00000405184	PEX13	1	-	c.32C>T	p.P11L	non-syn	NA	-	-	lod=105:467	DAMAGING	P	-	het	2

** 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 PEX13 2:61244360..61279125 region Gbrowse