The PEX13 gene homepage

This database is one of the dbPEX gene variant databases.
General information
Gene symbol PEX13
Gene name peroxisomal biogenesis factor 13
Chromosome 2
Chromosomal band p16.1
Imprinted Unknown
Genomic reference NG_008665.1
Transcript reference NM_002618.3
Exon/intron information NM_002618.3 exon/intron table
Associated with diseases ID, PBD-11A, PBD-11B
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Nancy Braverman and Steven Steinberg
Total number of public variants reported 14
Unique public DNA variants reported 14
Individuals with public variants 9
Hidden variants 2
Download all this gene's data Download all data
Notes This database is one of the dbPEX gene variant databases.
Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created May 03, 2013
Date last updated September 15, 2020
Version PEX13:200915

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_002618.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/PEX13
HGNC 8855
Entrez Gene 5194
PubMed articles PEX13
OMIM - Gene 601789
OMIM - Diseases PBD-11A (peroxisome biogenesis disorder, type 11A (PBD-11A))
PBD-11B (peroxisome biogenesis disorder, type 11B (PBD-11B))
HGMD PEX13
GeneCards PEX13
GeneTests PEX13


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00015994 2 peroxisomal biogenesis factor 13 NM_002618.3 NP_002609.1 14


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