SEZ6 [The Human Chemical-Genetic Interaction Map Project]

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======= SEZ6 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: SEZ6
  * **<color #00a2e8>Official Name</color>**: seizure related 6 homolog
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=124925|124925]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q53EL9|Q53EL9]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=SEZ6&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20SEZ6|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/616666|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  The protein encoded by this gene is thought to contain five cysteine-rich motifs that are similar to sushi domains, as well as two domains similar to the amino terminal half of the CUB (for complement C1r/C1s, Uegf, Bmp1) domain. Mutations in this gene have been associated with febrile seizures. [provided by RefSeq, Jul 2016]. 
  * **<color #00a2e8>UniProt Summary</color>**:  May play a role in cell-cell recognition and in neuronal membrane signaling. Seems to be important for the achievement of the necessary balance between dendrite elongation and branching during the elaboration of a complex dendritic arbor. Involved in the development of appropriate excitatory synaptic connectivity (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'>
|CUB|
|Sushi|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|synapse maturation|
|regulation of protein kinase C signaling|
|apical dendrite|
|cerebellar Purkinje cell layer development|
|dendritic shaft|
|cerebellar cortex development|
|excitatory postsynaptic potential|
|chemical synaptic transmission, postsynaptic|
|adult locomotory behavior|
|regulation of postsynaptic membrane potential|
|cerebellum development|
|metencephalon development|
|adult behavior|
|dendritic spine|
|regulation of dendrite development|
|hindbrain development|
|locomotory behavior|
|developmental maturation|
|synapse organization|
|neuronal cell body|
|chemical synaptic transmission|
|anterograde trans-synaptic signaling|
|cell surface receptor signaling pathway involved in cell-cell signaling|
|regulation of membrane potential|
|trans-synaptic signaling|
|synaptic signaling|
|regulation of neuron projection development|
|behavior|
|regulation of neuron differentiation|
|regulation of plasma membrane bounded cell projection organization|
|perinuclear region of cytoplasm|
|regulation of cell projection organization|
|brain development|
|head development|
|regulation of neurogenesis|
|regulation of nervous system development|
|regulation of cell development|
|central nervous system development|
|endoplasmic reticulum|
|cell-cell signaling|
|nervous system process|
|generation of neurons|
|neurogenesis|
|regulation of cell differentiation|
|regulation of intracellular signal transduction|
|system 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:exp503|Mitomycin-C 0.06μM R08 exp503]]|-1.77|
</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>**: 6002
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 1.16 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='SEZ6 Expression in NALM6 Cells: 1.16'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>