The PPIB gene homepage


Osteogenesis Imperfecta Variant Database
General information
Gene symbol PPIB
Gene name peptidylprolyl isomerase B
Chromosome 15
Chromosomal band q22.31
Imprinted Unknown
Genomic reference LRG_10
Transcript reference NM_000942.4
Exon/intron information NM_000942.4 exon/intron table
Associated with diseases OI9
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (3) Raymond Dalgleish, Gerard Pals, and Sonna Stolk
Total number of public variants reported 24
Unique public DNA variants reported 20
Individuals with public variants 16
Hidden variants 0
Download all this gene's data Download all data
Notes Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
This database is supported by , Osteogenesis Imperfecta Federation Europe (OIFE)
Date created May 03, 2013
Date last updated May 16, 2021
Version PPIB:210516

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_000942.4.
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/PPIB
External URL Osteogenesis Imperfecta & Ehlers-Danlos syndrome variant databases
Osteogenesis Imperfecta Federation Europe (OIFE)
HGNC 9255
Entrez Gene 5479
PubMed articles PPIB
OMIM - Gene 123841
OMIM - Diseases OI9 (osteogenesis imperfecta type IX (OI9))
HGMD PPIB
GeneCards PPIB
GeneTests PPIB
Orphanet PPIB


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00016620 15 peptidylprolyl isomerase B (cyclophilin B) NM_000942.4 NP_000933.1 24


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