OTOF [The Human Chemical-Genetic Interaction Map Project]

This page is read only. You can view the source, but not change it. Ask your administrator if you think this is wrong.
======= OTOF =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: OTOF
  * **<color #00a2e8>Official Name</color>**: otoferlin
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=9381|9381]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9HC10|Q9HC10]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=OTOF&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20OTOF|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/603681|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  Mutations in this gene are a cause of neurosensory nonsyndromic recessive deafness, DFNB9. The short form of the encoded protein has 3 C2 domains, a single carboxy-terminal transmembrane domain found also in the C. elegans spermatogenesis factor FER-1 and human dysferlin, while the long form has 6 C2 domains. The homology suggests that this protein may be involved in vesicle membrane fusion. Several transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Key calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion and in the control of neurotransmitter release at these output synapses. Interacts in a calcium-dependent manner to the presynaptic SNARE proteins at ribbon synapses of cochlear inner hair cells (IHCs) to trigger exocytosis of neurotransmitter. Also essential to synaptic exocytosis in immature outer hair cells (OHCs). May also play a role within the recycling of endosomes (By similarity). {ECO:0000250}.

<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'>
|FerI|
|FerB|
|C2|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|synaptic vesicle exocytosis|
|synaptic vesicle membrane|
|signal release from synapse|
|neurotransmitter secretion|
|synaptic vesicle cycle|
|vesicle-mediated transport in synapse|
|membrane fusion|
|sensory perception of sound|
|sensory perception of mechanical stimulus|
|signal release|
|neurotransmitter transport|
|basolateral plasma membrane|
|regulation of neurotransmitter levels|
|chemical synaptic transmission|
|anterograde trans-synaptic signaling|
|trans-synaptic signaling|
|synaptic signaling|
|cell junction|
|regulated exocytosis|
|calcium ion binding|
|molecular function|
|exocytosis|
|membrane organization|
|endoplasmic reticulum membrane|
|sensory perception|
|secretion by cell|
|export from cell|
|cell-cell signaling|
|secretion|
|nervous system process|
|establishment of localization in cell|
|vesicle-mediated transport|
|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:exp10|CCCP 0.1μM R00 exp10]]|1.75|
|[[:results:exp149|SB203580 25μM R03 exp149]]|1.9|
|[[:results:exp232|Epothilone-D 0.004 to 0.006μM on day4 R05 exp232]]|2.03|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:a:akirin2|AKIRIN2]]|0.407|
</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>**: 2907
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -2.21 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='OTOF Expression in NALM6 Cells: -2.21'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>