ERCC6L [The Human Chemical-Genetic Interaction Map Project]

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======= ERCC6L =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: ERCC6L
  * **<color #00a2e8>Official Name</color>**: ERCC excision repair 6 like, spindle assembly checkpoint helicase
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=54821|54821]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q2NKX8|Q2NKX8]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=ERCC6L&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20ERCC6L|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/300687|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a member of the SWItch/Sucrose Non-Fermentable (SWI/SNF2) family of proteins, and contains a SNF2-like ATPase domain and a PICH family domain. One distinguishing feature of this SWI/SNF protein family member is that during interphase, the protein is excluded from the nucleus, and only associates with chromatin after the nuclear envelope has broken down. This protein is a DNA translocase that is thought to bind double-stranded DNA that is exposed to stretching forces, such as those exerted by the mitotic spindle. This protein associates with ribosomal DNA and ultra-fine DNA bridges (UFBs), fine structures that connect sister chromatids during anaphase at some sites such as fragile sites, telomeres and centromeres. This gene is required for the faithful segregation of sister chromatids during mitosis, and the ATPase activity of this protein required for the resolution of UFBs before cytokinesis. [provided by RefSeq, May 2017]. 
  * **<color #00a2e8>UniProt Summary</color>**:  DNA helicase that acts as an essential component of the spindle assembly checkpoint. Contributes to the mitotic checkpoint by recruiting MAD2 to kinetochores and monitoring tension on centromeric chromatin (PubMed:17218258). Acts as a tension sensor that associates with catenated DNA which is stretched under tension until it is resolved during anaphase (PubMed:17218258, PubMed:23973328). Functions as ATP-dependent DNA translocase (PubMed:23973328, PubMed:28977671). Can promote Holliday junction branch migration (in vitro) (PubMed:23973328). {ECO:0000269|PubMed:17218258, ECO:0000269|PubMed:23973328, ECO:0000269|PubMed:28977671}.

<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'>
|ResIII|
|SNF2 N|
|Helicase C|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|DNA translocase activity|
|DNA-dependent ATPase activity|
|DNA helicase activity|
|condensed chromosome kinetochore|
|DNA duplex unwinding|
|DNA geometric change|
|DNA conformation change|
|cell division|
|chromosome organization|
|cell cycle|
|DNA binding|
|ATP binding|
|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:exp505|ML-792 0.2μM R08 exp505]]|-2.24|
|[[:results:exp357|Dorsomorphin 5μM R07 exp357]]|-2.01|
|[[:results:exp67|BVD-523 15μM R02 exp67]]|-1.71|
|[[:results:exp47|Lapatinib 5μM R01 exp47]]|1.83|
|[[:results:exp95|BI-2536 0.0042μM R03 exp95]]|1.95|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:h:hgc6.3|HGC6.3]]|0.533|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 1/694
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/26|
|bone|0/26|
|breast|0/30|
|central nervous system|0/49|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/11|
|fibroblast|0/1|
|gastric|0/14|
|kidney|0/18|
|liver|0/19|
|lung|0/72|
|lymphocyte|0/16|
|ovary|0/25|
|pancreas|0/22|
|peripheral nervous system|0/15|
|plasma cell|0/12|
|prostate|0/1|
|skin|0/20|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/28|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 3119
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.98 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='ERCC6L Expression in NALM6 Cells: 5.98'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>