EPM2AIP1 [The Human Chemical-Genetic Interaction Map Project]

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======= EPM2AIP1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: EPM2AIP1
  * **<color #00a2e8>Official Name</color>**: EPM2A interacting protein 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=9852|9852]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q7L775|Q7L775]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=EPM2AIP1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20EPM2AIP1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/607911|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  The EPM2A gene, which encodes laforin, is mutated in an autosomal recessive form of adolescent progressive myoclonus epilepsy. The protein encoded by this gene binds to laforin, but its function is not known. This gene is intronless. [provided by RefSeq, Oct 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**: N/A

<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'>
|cytoplasmic side of endoplasmic reticulum membrane|
|positive regulation of glycogen (starch) synthase activity|
|regulation of glycogen (starch) synthase activity|
|positive regulation of glycogen biosynthetic process|
|positive regulation of glycogen metabolic process|
|regulation of glycogen biosynthetic process|
|regulation of glucan biosynthetic process|
|regulation of glycogen metabolic process|
|regulation of polysaccharide biosynthetic process|
|positive regulation of glucose metabolic process|
|regulation of polysaccharide metabolic process|
|positive regulation of cellular carbohydrate metabolic process|
|positive regulation of carbohydrate metabolic process|
|regulation of carbohydrate biosynthetic process|
|regulation of glucose metabolic process|
|positive regulation of small molecule metabolic process|
|regulation of cellular carbohydrate metabolic process|
|regulation of generation of precursor metabolites and energy|
|regulation of carbohydrate metabolic process|
|response to insulin|
|response to peptide hormone|
|regulation of small molecule metabolic process|
|response to peptide|
|positive regulation of transferase activity|
|response to hormone|
|regulation of transferase activity|
|response to organonitrogen compound|
|identical protein binding|
|response to nitrogen compound|
|positive regulation of catalytic activity|
|response to endogenous stimulus|
|response to oxygen-containing compound|
|positive regulation of molecular function|
|positive regulation of macromolecule biosynthetic process|
|positive regulation of cellular biosynthetic process|
|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:exp288|HMS-I2 10μM R06 exp288]]|-1.81|
|[[:results:exp114|A-196 10μM R03 exp114]]|1.82|
|[[:results:exp507|Monensin 0.3μM R08 exp507]]|1.87|
|[[:results:exp442|Ibrutinib 10μM R08 exp442]]|1.95|
</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>**: 16445
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 7.12 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='EPM2AIP1 Expression in NALM6 Cells: 7.12'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>