CEP85L (centrosomal protein 85 like)

2012-08-01  

Identity

HGNC
CEP85L
LOCATION
6q22.31
LOCUSID
387119
ALIAS
C6orf204,LIS10,NY-BR-15,bA57K17.2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 387119
MIM: 618865
HGNC: 21638
Ensembl: ENSG00000111860

Variants:

dbSNP: 387119
ClinVar: 387119
TCGA: ENSG00000111860
COSMIC: CEP85L

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000111860ENST00000360290Q5SZL2
ENSG00000111860ENST00000368488Q5SZL2
ENSG00000111860ENST00000368491Q5SZL2
ENSG00000111860ENST00000392500Q5SZL2
ENSG00000111860ENST00000419517Q5SZL2
ENSG00000111860ENST00000434604A2A3P3

Expression (GTEx)

0
5
10
15
20
25
30
35
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

References

Pubmed IDYearTitleCitations
376212182023Further characterization of CEP85L-associated lissencephaly type 10: Report of a three-generation family and review of the literature.1
376212182023Further characterization of CEP85L-associated lissencephaly type 10: Report of a three-generation family and review of the literature.1
320976292020Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5.8
320976302020Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly.7
330797402020LRP8 (rs5177) and CEP85L (rs11756438) are contributed to schizophrenia susceptibility in Iranian population.1
320976292020Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5.8
320976302020Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly.7
330797402020LRP8 (rs5177) and CEP85L (rs11756438) are contributed to schizophrenia susceptibility in Iranian population.1
219387542012Systematic screen for tyrosine kinase rearrangements identifies a novel C6orf204-PDGFRB fusion in a patient with recurrent T-ALL and an associated myeloproliferative neoplasm.7
219387542012Systematic screen for tyrosine kinase rearrangements identifies a novel C6orf204-PDGFRB fusion in a patient with recurrent T-ALL and an associated myeloproliferative neoplasm.7
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
206393922010Genome-wide association analysis identifies multiple loci related to resting heart rate.0
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
206393922010Genome-wide association analysis identifies multiple loci related to resting heart rate.0
195843462009Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data.120

Citation

Dessen P

CEP85L (centrosomal protein 85 like)

Atlas Genet Cytogenet Oncol Haematol. 2012-08-01

Online version: http://atlasgeneticsoncology.org/gene/52797/img/favicon/cancer-prone-explorer/