CELF4 (CUGBP Elav-like family member 4)

2014-11-01  

Identity

HGNC
CELF4
LOCATION
18q12.2
LOCUSID
56853
ALIAS
BRUNOL4,CELF-4
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA161199368iloperidoneChemicalClinicalAnnotationassociatedPD18521091
PA447300Acquired Long QT Syndrome (aLQTS)DiseaseClinicalAnnotationassociatedPD18521091

References

Pubmed IDYearTitleCitations
377587662023Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex.1
377587662023Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex.1
339306742021An intronic variant in the CELF4 gene is associated with risk for colorectal cancer.6
339306742021An intronic variant in the CELF4 gene is associated with risk for colorectal cancer.6
284074442017Familial 18q12.2 deletion supports the role of RNA-binding protein CELF4 in autism spectrum disorders.8
284074442017Familial 18q12.2 deletion supports the role of RNA-binding protein CELF4 in autism spectrum disorders.8
268115342016CELF4 Variant and Anthracycline-Related Cardiomyopathy: A Children's Oncology Group Genome-Wide Association Study.68
268115342016CELF4 Variant and Anthracycline-Related Cardiomyopathy: A Children's Oncology Group Genome-Wide Association Study.68
199114212010Prognostic relevance of DNA copy number changes in colorectal cancer.31
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
199114212010Prognostic relevance of DNA copy number changes in colorectal cancer.31
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.94
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.94
176729182007Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns.20

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)