EFHC1 [The Human Chemical-Genetic Interaction Map Project]

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======= EFHC1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: EFHC1
  * **<color #00a2e8>Official Name</color>**: EF-hand domain containing 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=114327|114327]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q5JVL4|Q5JVL4]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=EFHC1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20EFHC1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/608815|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic epilepsy and juvenile absence epilepsy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Microtubule-associated protein which regulates cell division and neuronal migration during cortical development. Necessary for mitotic spindle organization (PubMed:19734894, PubMed:28370826). Necessary for radial and tangential cell migration during brain development, possibly acting as a regulator of cell morphology and process formation during migration (PubMed:22926142). May enhance calcium influx through CACNA1E and stimulate programmed cell death (PubMed:15258581). {ECO:0000269|PubMed:15258581, ECO:0000269|PubMed:19734894, ECO:0000269|PubMed:22926142, ECO:0000269|PubMed:28370826}.

<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'>
|DUF1126|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|alpha-tubulin binding|
|cerebral cortex cell migration|
|telencephalon cell migration|
|forebrain cell migration|
|mitotic cytokinesis|
|mitotic spindle organization|
|mitotic spindle|
|cilium-dependent cell motility|
|cilium or flagellum-dependent cell motility|
|cytoskeleton-dependent cytokinesis|
|cytokinesis|
|axoneme|
|microtubule cytoskeleton organization involved in mitosis|
|cerebral cortex development|
|spindle pole|
|spindle organization|
|regulation of cell division|
|pallium development|
|protein C-terminus binding|
|telencephalon development|
|neuronal cell body|
|forebrain development|
|microtubule cytoskeleton organization|
|centrosome|
|cell division|
|mitotic cell cycle process|
|microtubule-based process|
|mitotic cell cycle|
|calcium ion binding|
|brain development|
|head development|
|cell migration|
|central nervous system development|
|cell cycle process|
|cell motility|
|localization of cell|
|cytoskeleton organization|
|locomotion|
|cell cycle|
|movement of cell or subcellular component|
</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:exp68|Clomiphene 4.4μM R02 exp68]]|-1.78|
|[[:results:exp132|Metformin 40μM R03 exp132]]|-1.74|
</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>**: 16549
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.45 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='EFHC1 Expression in NALM6 Cells: 4.45'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>