Ensembl ID:
Human Orthologue:
Human Description:
cytoplasmic polyadenylation element binding protein 4 [Source:HGNC Symbol;Acc:21747]
Mouse Orthologue:
Mouse Description:
cytoplasmic polyadenylation element binding protein 4 Gene [Source:MGI Symbol;Acc:MGI:1914829]


There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa24025 Essential Splice Site Mutation detected in F1 DNA During 2015

Mutation Details

Allele Name:
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
We currently estimate that this allele will be available during 2015.
A > T
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000115341 Essential Splice Site 553 602 8 9
Genomic Location:
Chromosome 21 (position 39720820)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
Flanking Sequence:
Associated Phenotype:
Not determined


This gene's human homologue has been identified in the following GWAS studies:

  • Crohn's disease: Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. (View Study)
  • Obesity-related traits: Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (View Study)
  • Ulcerative colitis: Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. (View Study)
  • Waist-hip ratio: Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. (View Study)

(GWAS data comes from http://www.genome.gov/gwastudies/.)


If you would like to be informed when the status of this gene changes (for example, a new allele is generated or an allele is made available for distribution) then please enter your details below:

* quick link - http://q.sanger.ac.uk/da608ol6