COCH [The Human Chemical-Genetic Interaction Map Project]

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======= COCH =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: COCH
  * **<color #00a2e8>Official Name</color>**: cochlin
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=1690|1690]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/O43405|O43405]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=COCH&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20COCH|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/603196|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  The protein encoded by this gene is highly conserved in human, mouse, and chicken, showing 94% and 79% amino acid identity of human to mouse and chicken sequences, respectively. Hybridization to this gene was detected in spindle-shaped cells located along nerve fibers between the auditory ganglion and sensory epithelium. These cells accompany neurites at the habenula perforata, the opening through which neurites extend to innervate hair cells. This and the pattern of expression of this gene in chicken inner ear paralleled the histologic findings of acidophilic deposits, consistent with mucopolysaccharide ground substance, in temporal bones from DFNA9 (autosomal dominant nonsyndromic sensorineural deafness 9) patients. Mutations that cause DFNA9 have been reported in this gene. Alternative splicing results in multiple transcript variants encoding the same protein. Additional splice variants encoding distinct isoforms have been described but their biological validities have not been demonstrated. [provided by RefSeq, Oct 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Plays a role in the control of cell shape and motility in the trabecular meshwork. {ECO:0000269|PubMed:21886777}.

<button type='primary' 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'>
|LCCL|
|VWA|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|growth plate cartilage chondrocyte morphogenesis|
|chondrocyte morphogenesis involved in endochondral bone morphogenesis|
|chondrocyte morphogenesis|
|growth plate cartilage morphogenesis|
|growth plate cartilage chondrocyte differentiation|
|chondrocyte development involved in endochondral bone morphogenesis|
|cartilage morphogenesis|
|chondrocyte differentiation involved in endochondral bone morphogenesis|
|growth plate cartilage development|
|endochondral bone growth|
|chondrocyte development|
|bone growth|
|cartilage development involved in endochondral bone morphogenesis|
|collagen binding|
|endochondral bone morphogenesis|
|chondrocyte differentiation|
|organ growth|
|bone morphogenesis|
|sensory perception of sound|
|regulation of cell shape|
|sensory perception of mechanical stimulus|
|cartilage development|
|bone development|
|connective tissue development|
|extracellular matrix|
|skeletal system morphogenesis|
|defense response to bacterium|
|positive regulation of innate immune response|
|positive regulation of response to biotic stimulus|
|collagen-containing extracellular matrix|
|developmental growth|
|growth|
|regulation of innate immune response|
|positive regulation of defense response|
|regulation of cell morphogenesis|
|skeletal system development|
|positive regulation of multi-organism process|
|regulation of response to biotic stimulus|
|cell morphogenesis involved in differentiation|
|tissue morphogenesis|
|positive regulation of response to external stimulus|
|response to bacterium|
|cell morphogenesis|
|regulation of defense response|
|regulation of multi-organism process|
|cellular component morphogenesis|
|positive regulation of immune response|
|defense response to other organism|
|animal organ morphogenesis|
|sensory perception|
|regulation of anatomical structure morphogenesis|
|regulation of response to external stimulus|
|regulation of immune response|
|positive regulation of immune system process|
|response to other organism|
|response to external biotic stimulus|
|response to biotic stimulus|
|defense response|
|nervous system process|
|regulation of response to stress|
|extracellular space|
|cell development|
|regulation of immune system process|
|tissue development|
|system process|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='primary' 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:exp452|Azithromycin 100μM R08 exp452]]|1.85|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:r:rrm1|RRM1]]|0.502|
</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>**: 18141
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -1.37 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='COCH Expression in NALM6 Cells: -1.37'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>