======= FANCL =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: FANCL
  * **<color #00a2e8>Official Name</color>**: FA complementation group L
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=55120|55120]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9NW38|Q9NW38]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=FANCL&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20FANCL|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/608111|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group L. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Ubiquitin ligase protein that mediates monoubiquitination of FANCD2 in the presence of UBE2T, a key step in the DNA damage pathway (PubMed:12973351, PubMed:16916645, PubMed:17938197, PubMed:19111657, PubMed:24389026). Also mediates monoubiquitination of FANCI (PubMed:19589784). May stimulate the ubiquitin release from UBE2W. May be required for proper primordial germ cell proliferation in the embryonic stage, whereas it is probably not needed for spermatogonial proliferation after birth. {ECO:0000269|PubMed:12973351, ECO:0000269|PubMed:16916645, ECO:0000269|PubMed:17938197, ECO:0000269|PubMed:19111657, ECO:0000269|PubMed:19589784, ECO:0000269|PubMed:24389026}.

<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'>
|WD-3|
|FANCL C|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|Fanconi anaemia nuclear complex|
|interstrand cross-link repair|
|protein monoubiquitination|
|nuclear envelope|
|ubiquitin protein ligase activity|
|ubiquitin-protein transferase activity|
|nuclear body|
|ubiquitin protein ligase binding|
|DNA repair|
|intracellular membrane-bounded organelle|
|protein ubiquitination|
|gamete generation|
|DNA metabolic process|
|protein modification by small protein conjugation|
|cellular response to DNA damage stimulus|
|multicellular organismal reproductive process|
|sexual reproduction|
|multicellular organism reproduction|
|protein modification by small protein conjugation or removal|
|multi-organism reproductive process|
|reproductive process|
|reproduction|
|regulation of cell population proliferation|
|cellular response to stress|
</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:exp217|Mdivi-1 15μM R05 exp217]]|-2.15|
|[[:results:exp354|Diepoxybutane 3μM R07 exp354]]|-1.87|
|[[:results:exp270|Campthothecin 0.001μM R06 exp270]]|-1.85|
|[[:results:exp417|Tubastatin-A 2.5μM R07 exp417]]|-1.79|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:c:c17orf70|C17orf70]]|0.4|
</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>**: 1179
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.11 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='FANCL Expression in NALM6 Cells: 4.11'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>