======= CEP290 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: CEP290
  * **<color #00a2e8>Official Name</color>**: centrosomal protein 290
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=80184|80184]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/O15078|O15078]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=CEP290&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20CEP290|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/610142|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a protein with 13 putative coiled-coil domains, a region with homology to SMC chromosome segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP binding site motif A. The protein is localized to the centrosome and cilia and has sites for N-glycosylation, tyrosine sulfation, phosphorylation, N-myristoylation, and amidation. Mutations in this gene have been associated with Joubert syndrome and nephronophthisis and the presence of antibodies against this protein is associated with several forms of cancer. [provided by RefSeq, Jul 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Involved in early and late steps in cilia formation. Its association with CCP110 is required for inhibition of primary cilia formation by CCP110 (PubMed:18694559). May play a role in early ciliogenesis in the disappearance of centriolar satellites and in the transition of primary ciliar vesicles (PCVs) to capped ciliary vesicles (CCVs). Required for the centrosomal recruitment of RAB8A and for the targeting of centriole satellite proteins to centrosomes such as of PCM1 (PubMed:24421332). Required for the correct localization of ciliary and phototransduction proteins in retinal photoreceptor cells; may play a role in ciliary transport processes (By similarity). Required for efficient recruitment of RAB8A to primary cilium (PubMed:17705300). In the ciliary transition zone is part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). Involved in regulation of the BBSome complex integrity, specifically for presence of BBS2, BBS5 and BBS8/TTC8 in the complex, and in ciliary targeting of selected BBSome cargos. May play a role in controlling entry of the BBSome complex to cilia possibly implicating IQCB1/NPHP5 (PubMed:25552655). Activates ATF4-mediated transcription (PubMed:16682973). {ECO:0000250|UniProtKB:Q6A078, ECO:0000269|PubMed:16682973, ECO:0000269|PubMed:17705300, ECO:0000269|PubMed:18694559, ECO:0000269|PubMed:24421332, ECO:0000269|PubMed:25552655}.

<button type='default' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
No Pfam Domain information is available for this gene.
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|otic vesicle formation|
|otic vesicle morphogenesis|
|pronephros development|
|MKS complex|
|microtubule minus-end binding|
|otic vesicle development|
|gamma-tubulin complex|
|ciliary transition zone|
|centriolar satellite|
|eye photoreceptor cell development|
|photoreceptor connecting cilium|
|eye photoreceptor cell differentiation|
|photoreceptor cell development|
|photoreceptor cell differentiation|
|specific granule lumen|
|ciliary basal body-plasma membrane docking|
|inner ear morphogenesis|
|ear morphogenesis|
|G2/M transition of mitotic cell cycle|
|epithelial tube formation|
|cell cycle G2/M phase transition|
|ciliary basal body|
|centriole|
|eye morphogenesis|
|tube formation|
|hindbrain development|
|positive regulation of intracellular protein transport|
|organelle localization by membrane tethering|
|membrane docking|
|inner ear development|
|regulation of G2/M transition of mitotic cell cycle|
|positive regulation of intracellular transport|
|regulation of cell cycle G2/M phase transition|
|ear development|
|regulation of intracellular protein transport|
|sensory organ morphogenesis|
|kidney development|
|mitotic cell cycle phase transition|
|cell cycle phase transition|
|renal system development|
|embryonic organ morphogenesis|
|epithelial tube morphogenesis|
|urogenital system development|
|positive regulation of cellular protein localization|
|cilium assembly|
|regulation of intracellular transport|
|eye development|
|visual system development|
|cilium organization|
|sensory system development|
|regulation of mitotic cell cycle phase transition|
|positive regulation of protein transport|
|morphogenesis of an epithelium|
|embryonic organ development|
|plasma membrane bounded cell projection assembly|
|regulation of cell cycle phase transition|
|cell projection assembly|
|positive regulation of establishment of protein localization|
|neutrophil degranulation|
|centrosome|
|neutrophil activation involved in immune response|
|neutrophil mediated immunity|
|neutrophil activation|
|granulocyte activation|
|leukocyte degranulation|
|myeloid leukocyte mediated immunity|
|myeloid cell activation involved in immune response|
|regulation of cellular protein localization|
|sensory organ development|
|tissue morphogenesis|
|embryonic morphogenesis|
|organelle localization|
|myeloid leukocyte activation|
|protein-containing complex|
|mitotic cell cycle process|
|leukocyte activation involved in immune response|
|cell activation involved in immune response|
|regulation of mitotic cell cycle|
|tube morphogenesis|
|mitotic cell cycle|
|regulated exocytosis|
|regulation of protein transport|
|regulation of peptide transport|
|brain development|
|regulation of establishment of protein localization|
|regulation of cell cycle process|
|organelle assembly|
|leukocyte mediated immunity|
|head development|
|exocytosis|
|neuron development|
|tube development|
|anatomical structure formation involved in morphogenesis|
|regulation of cellular localization|
|leukocyte activation|
|animal organ morphogenesis|
|embryo development|
|central nervous system development|
|positive regulation of transport|
|cell cycle process|
|secretion by cell|
|neuron differentiation|
|regulation of protein localization|
|export from cell|
|identical protein binding|
|cell activation|
|immune effector process|
|epithelium development|
|plasma membrane bounded cell projection organization|
|secretion|
|cell projection organization|
|regulation of cell cycle|
|cell cycle|
|protein transport|
|generation of neurons|
|peptide transport|
|positive regulation of transcription, DNA-templated|
|amide transport|
|establishment of protein localization|
|neurogenesis|
|positive regulation of nucleic acid-templated transcription|
|positive regulation of RNA biosynthetic process|
|cell development|
|positive regulation of RNA metabolic process|
|tissue development|
|nitrogen compound transport|
|regulation of transport|
|immune response|
|positive regulation of nucleobase-containing compound metabolic process|
|positive regulation of macromolecule biosynthetic process|
|extracellular region|
|vesicle-mediated transport|
|positive regulation of cellular biosynthetic process|
|positive regulation of gene expression|
|membrane|
|positive regulation of biosynthetic process|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp208|Vinblastine 0.015μM R05 exp208]]|-2.04|
|[[:results:exp417|Tubastatin-A 2.5μM R07 exp417]]|-1.96|
|[[:results:exp344|Chlorpromazine 10μM R07 exp344]]|-1.77|
|[[:results:exp486|Heregulin-B 44ng/ml R08 exp486]]|-1.72|
|[[:results:exp26|Oligomycin-A 20μM R00 exp26]]|-1.72|
|[[:results:exp426|FBS-Wisent 0.1 R07 exp426]]|1.75|
|[[:results:exp46|HMS-I1 1μM R01 exp46]]|1.95|
|[[:results:exp53|Suberoylanilide-Hydroxamic-Acid 0.02μM R01 exp53]]|2.01|
|[[:results:exp179|Combretastatin A4 0.002 to 0.003μM day4 R04 exp179]]|2.12|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 0/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 16183
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.84 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='CEP290 Expression in NALM6 Cells: 5.84'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>