CELF4 (CUGBP Elav-like family member 4)

2014-11-01  

Identity

HGNC
LOCATION
18q12.2
LOCUSID
ALIAS
BRUNOL4,CELF-4
FUSION GENES

Other Information

Locus ID:

NCBI: 56853
MIM: 612679
HGNC: 14015
Ensembl: ENSG00000101489

Variants:

dbSNP: 56853
ClinVar: 56853
TCGA: ENSG00000101489
COSMIC: CELF4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000101489ENST00000334919Q9BZC1
ENSG00000101489ENST00000361795Q9BZC1
ENSG00000101489ENST00000420428Q9BZC1
ENSG00000101489ENST00000586009K7EJW4
ENSG00000101489ENST00000587657K7ENR2
ENSG00000101489ENST00000587819K7EQ97
ENSG00000101489ENST00000587911M0R137
ENSG00000101489ENST00000587924K7EPX2
ENSG00000101489ENST00000588591K7ERH1
ENSG00000101489ENST00000588597B4DHA8
ENSG00000101489ENST00000589229K7EJK3
ENSG00000101489ENST00000589386K7EJD7
ENSG00000101489ENST00000590112A0A0A0MTT3
ENSG00000101489ENST00000591282Q9BZC1
ENSG00000101489ENST00000591287Q9BZC1
ENSG00000101489ENST00000593271K7EJ26
ENSG00000101489ENST00000601019M0QY66
ENSG00000101489ENST00000601392A0A0C4DGR1
ENSG00000101489ENST00000603232Q9BZC1

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA161199368iloperidoneChemicalClinicalAnnotationassociatedPD18521091
PA447300Acquired Long QT Syndrome (aLQTS)DiseaseClinicalAnnotationassociatedPD18521091

References

Pubmed IDYearTitleCitations
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.75
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
199114212010Prognostic relevance of DNA copy number changes in colorectal cancer.23
268115342016CELF4 Variant and Anthracycline-Related Cardiomyopathy: A Children's Oncology Group Genome-Wide Association Study.19
149732222004ETR-3 and CELF4 protein domains required for RNA binding and splicing activity in vivo.17
176729182007Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns.17
284074442017Familial 18q12.2 deletion supports the role of RNA-binding protein CELF4 in autism spectrum disorders.4

Citation

Dessen P

CELF4 (CUGBP Elav-like family member 4)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61696/celf4-(cugbp-elav-like-family-member-4)