C12orf57 [The Human Chemical-Genetic Interaction Map Project]

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======= C12orf57 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: C12orf57
  * **<color #00a2e8>Official Name</color>**: chromosome 12 open reading frame 57
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=113246|113246]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q99622|Q99622]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=C12orf57&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20C12orf57|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/615140|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene is ubiquitously expressed in human tissues. It is required for development of the human corpus callosum. Mutations in this gene are associated with Temtamy syndrome (TEMTYS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]. 
  * **<color #00a2e8>UniProt Summary</color>**:  In brain, may be required for corpus callusum development. {ECO:0000269|PubMed:23453666}.

<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'>
|third ventricle development|
|psychomotor behavior|
|corpus callosum morphogenesis|
|motor behavior|
|regulation of skeletal muscle contraction|
|corpus callosum development|
|central nervous system projection neuron axonogenesis|
|ventricular system development|
|central nervous system neuron axonogenesis|
|central nervous system neuron development|
|post-embryonic development|
|regulation of striated muscle contraction|
|camera-type eye morphogenesis|
|eye morphogenesis|
|regulation of muscle contraction|
|central nervous system neuron differentiation|
|regulation of muscle system process|
|sensory organ morphogenesis|
|telencephalon development|
|cognition|
|camera-type eye development|
|eye development|
|visual system development|
|sensory system development|
|axonogenesis|
|forebrain development|
|nuclear speck|
|axon development|
|cell morphogenesis involved in neuron differentiation|
|neuron projection morphogenesis|
|plasma membrane bounded cell projection morphogenesis|
|cell projection morphogenesis|
|cell part morphogenesis|
|sensory organ development|
|cell morphogenesis involved in differentiation|
|behavior|
|regulation of system process|
|neuron projection development|
|cell morphogenesis|
|brain development|
|molecular function|
|head development|
|neuron development|
|cellular component morphogenesis|
|animal organ morphogenesis|
|central nervous system development|
|neuron differentiation|
|plasma membrane bounded cell projection organization|
|cell projection organization|
|nervous system process|
|generation of neurons|
|neurogenesis|
|cell development|
|system process|
</modal>
\\

 === CRISPR Data ===
<button type='default' 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'>
No hits were found.
</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>**: 16027
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.24 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='C12orf57 Expression in NALM6 Cells: 8.83'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>