PEX2 peroxisomal biogenesis factor 2

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
Locus Zoom
Variants
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Information

Symbol: PEX2
Type: protein-coding
Description: peroxisomal biogenesis factor 2
Entrez Gene ID: 5828
Genome: hg19
Position: chr8:77,892,494-77,912,314
Genome: hg38
Position: chr8:76,980,258-77,000,078
MIM: 170993 OMIM
HGNC: HGNC:9717 HGNC
Ensembl: ENSG00000164751 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	8	98
Likely pathogenic	0	68
Benign	0	44
Likely benign	0	274
Conflicting classifications of pathogenicity	0	38
Uncertain significance	0	454

Ranking

	ClinVar
	0
	0
	132
	754
	12

Frequency

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

Disease area statistics

Locus Zoom

Variants

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Target data	:	MGeND data only
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Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	MGeND				Genome	ClinVar			CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction
Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	Entry	Origin	Type	Annotation	Genome	Entry	Origin	Annotation	CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction

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Target data	:	MGeND data only
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Name	MGeND				Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Search Word

Target data	:	MGeND data only
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Name	MGeND				Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Type	ID
SYNONYM	PAF1
SYNONYM	PBD5A
SYNONYM	PBD5B
SYNONYM	PMP3
SYNONYM	PMP35
SYNONYM	PXMP3
SYNONYM	RNF72
SYNONYM	ZWS3
MIM	170993 OMIM
HGNC	HGNC:9717 HGNC
Ensembl	ENSG00000164751 Ensembl
AllianceGenome	HGNC:9717

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000520103.5	hg38	chr8	76,982,934	77,000,947	18,014
ENST00000357039.9	hg38	chr8	76,980,258	77,000,078	19,821
ENST00000522527.5	hg38	chr8	76,982,957	77,000,267	17,311
ENST00000357039.9	hg19	chr8	77,892,494	77,912,314	19,821
ENST00000520103.5	hg19	chr8	77,895,170	77,913,183	18,014
ENST00000522527.5	hg19	chr8	77,895,193	77,912,503	17,311

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