======= ERCC8 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: ERCC8
  * **<color #00a2e8>Official Name</color>**: ERCC excision repair 8, CSA ubiquitin ligase complex subunit
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=1161|1161]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q13216|Q13216]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=ERCC8&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20ERCC8|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/609412|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B (CSB) protein and with p44 protein, a subunit of the RNA polymerase II transcription factor IIH. Mutations in this gene have been identified in patients with hereditary disease Cockayne syndrome (CS). CS cells are abnormally sensitive to ultraviolet radiation and are defective in the repair of transcriptionally active genes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Substrate-recognition component of the CSA complex, a DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex, involved in transcription-coupled nucleotide excision repair. The CSA complex (DCX(ERCC8) complex) promotes the ubiquitination and subsequent proteasomal degradation of ERCC6 in a UV-dependent manner; ERCC6 degradation is essential for the recovery of RNA synthesis after transcription-coupled repair. It is required for the recruitment of XAB2, HMGN1 and TCEA1/TFIIS to a transcription- coupled repair complex which removes RNA polymerase II-blocking lesions from the transcribed strand of active genes. {ECO:0000269|PubMed:16751180, ECO:0000269|PubMed:16916636, ECO:0000269|PubMed:16964240}.

<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'>
|WD40|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|nucleotide-excision repair complex|
|Cul4A-RING E3 ubiquitin ligase complex|
|response to auditory stimulus|
|Cul4-RING E3 ubiquitin ligase complex|
|response to X-ray|
|DNA-dependent ATPase activity|
|DNA helicase activity|
|protein autoubiquitination|
|positive regulation of DNA repair|
|transcription-coupled nucleotide-excision repair|
|positive regulation of response to DNA damage stimulus|
|nuclear matrix|
|nucleotide-excision repair|
|DNA duplex unwinding|
|DNA geometric change|
|regulation of DNA repair|
|perikaryon|
|response to UV|
|response to ionizing radiation|
|positive regulation of DNA metabolic process|
|response to mechanical stimulus|
|regulation of response to DNA damage stimulus|
|ubiquitin-protein transferase activity|
|protein-containing complex binding|
|DNA conformation change|
|protein polyubiquitination|
|response to light stimulus|
|proteasome-mediated ubiquitin-dependent protein catabolic process|
|proteasomal protein catabolic process|
|regulation of DNA metabolic process|
|post-translational protein modification|
|response to oxidative stress|
|response to radiation|
|DNA repair|
|ubiquitin-dependent protein catabolic process|
|modification-dependent protein catabolic process|
|modification-dependent macromolecule catabolic process|
|proteolysis involved in cellular protein catabolic process|
|protein-containing complex|
|cellular protein catabolic process|
|protein catabolic process|
|protein ubiquitination|
|regulation of cellular response to stress|
|DNA metabolic process|
|protein modification by small protein conjugation|
|cellular response to DNA damage stimulus|
|cellular macromolecule catabolic process|
|response to organic cyclic compound|
|protein modification by small protein conjugation or removal|
|macromolecule catabolic process|
|organonitrogen compound catabolic process|
|chromosome organization|
|response to abiotic stimulus|
|proteolysis|
|regulation of response to stress|
|cellular response to stress|
|organic substance catabolic process|
|cellular catabolic process|
|positive regulation of nucleobase-containing compound metabolic 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:exp446|4-Nitroquinoline-1-oxide 0.5μM R08 exp446]]|-3.23|
|[[:results:exp294|Nutlin-3A 1.6μM R06 exp294]]|-2.16|
|[[:results:exp354|Diepoxybutane 3μM R07 exp354]]|-2.14|
|[[:results:exp64|Nocodazole 0.2μM R02 exp64]]|-2.1|
|[[:results:exp292|Menadione 5μM R06 exp292]]|-2.03|
|[[:results:exp419|Tunicamycin 0.04 to 0.075μM  on day4 R07 exp419]]|-1.94|
</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>**: 13763
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.51 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='ERCC8 Expression in NALM6 Cells: 4.51'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>