CFI [The Human Chemical-Genetic Interaction Map Project]

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======= CFI =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: CFI
  * **<color #00a2e8>Official Name</color>**: complement factor I
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=3426|3426]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P05156|P05156]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=CFI&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20CFI|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/217030|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a serine proteinase that is essential for regulating the complement cascade. The encoded preproprotein is cleaved to produce both heavy and light chains, which are linked by disulfide bonds to form a heterodimeric glycoprotein. This heterodimer can cleave and inactivate the complement components C4b and C3b, and it prevents the assembly of the C3 and C5 convertase enzymes. Defects in this gene cause complement factor I deficiency, an autosomal recessive disease associated with a susceptibility to pyogenic infections. Mutations in this gene have been associated with a predisposition to atypical hemolytic uremic syndrome, a disease characterized by acute renal failure, microangiopathic hemolytic anemia and thrombocytopenia. Primary glomerulonephritis with immune deposits and age-related macular degeneration are other conditions associated with mutations of this gene. [provided by RefSeq, Dec 2015]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Responsible for cleaving the alpha-chains of C4b and C3b in the presence of the cofactors C4-binding protein and factor H respectively.

<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'>
|Ldl recept a|
|Trypsin|
|SRCR|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|scavenger receptor activity|
|regulation of complement activation|
|regulation of humoral immune response|
|complement activation, classical pathway|
|serine-type endopeptidase activity|
|humoral immune response mediated by circulating immunoglobulin|
|complement activation|
|immunoglobulin mediated immune response|
|B cell mediated immunity|
|lymphocyte mediated immunity|
|adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains|
|humoral immune response|
|regulation of immune effector process|
|endocytosis|
|adaptive immune response|
|activation of immune response|
|import into cell|
|viral process|
|innate immune response|
|leukocyte mediated immunity|
|symbiotic process|
|interspecies interaction between organisms|
|positive regulation of immune response|
|defense response to other organism|
|immune effector process|
|regulation of immune response|
|positive regulation of immune system process|
|proteolysis|
|response to other organism|
|response to external biotic stimulus|
|response to biotic stimulus|
|defense response|
|extracellular space|
|regulation of immune system process|
|immune response|
|extracellular region|
|vesicle-mediated transport|
|membrane|
</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:exp79|Q15 2.7μM R02 exp79]]|-1.77|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:h:hgc6.3|HGC6.3]]|0.582|
</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>**: 14712
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 2.18 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='CFI Expression in NALM6 Cells: 2.18'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>