ERCC6 [The Human Chemical-Genetic Interaction Map Project]

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======= ERCC6 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: ERCC6
  * **<color #00a2e8>Official Name</color>**: ERCC excision repair 6, chromatin remodeling factor
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=2074|2074]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/"P0DP91|Q03468"|"P0DP91|Q03468"]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=ERCC6&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20ERCC6|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/609413|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The encoded protein has ATP-stimulated ATPase activity, interacts with several transcription and excision repair proteins, and may promote complex formation at DNA repair sites. Mutations in this gene are associated with Cockayne syndrome type B and cerebrooculofacioskeletal syndrome 1. Alternative splicing occurs between a splice site from exon 5 of this gene to the 3' splice site upstream of the open reading frame (ORF) of the adjacent gene, piggyback-derived-3 (GeneID:267004), which activates the alternative polyadenylation site downstream of the piggyback-derived-3 ORF. The resulting transcripts encode a fusion protein that shares sequence with the product of each individual gene. [provided by RefSeq, Mar 2016]. 
  * **<color #00a2e8>UniProt Summary</color>**: N/A

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

<modal id='GO_terms' size='lg' title='GO Terms'>
|pyrimidine dimer repair|
|protein tyrosine kinase activator activity|
|activation of JNKK activity|
|response to UV-B|
|response to superoxide|
|response to oxygen radical|
|transcription elongation factor complex|
|response to X-ray|
|transcription elongation from RNA polymerase I promoter|
|positive regulation of DNA-templated transcription, elongation|
|photoreceptor cell maintenance|
|transcription by RNA polymerase I|
|activation of JUN kinase activity|
|base-excision repair|
|DNA-dependent ATPase activity|
|regulation of DNA-templated transcription, elongation|
|activation of MAPKK activity|
|positive regulation of protein tyrosine kinase activity|
|response to gamma radiation|
|DNA helicase activity|
|positive regulation of gene expression, epigenetic|
|positive regulation of DNA repair|
|intrinsic apoptotic signaling pathway in response to DNA damage|
|positive regulation of JUN kinase activity|
|transcription-coupled nucleotide-excision repair|
|retina homeostasis|
|JNK cascade|
|multicellular organism growth|
|regulation of JUN kinase activity|
|regulation of protein tyrosine kinase activity|
|DNA-templated transcription, elongation|
|positive regulation of response to DNA damage stimulus|
|stress-activated MAPK cascade|
|protein N-terminus binding|
|nucleotide-excision repair|
|DNA duplex unwinding|
|DNA geometric change|
|regulation of DNA repair|
|positive regulation of JNK cascade|
|stress-activated protein kinase signaling cascade|
|response to UV|
|intrinsic apoptotic signaling pathway|
|response to ionizing radiation|
|activation of MAPK activity|
|positive regulation of stress-activated MAPK cascade|
|positive regulation of stress-activated protein kinase signaling cascade|
|regulation of JNK cascade|
|protein C-terminus binding|
|tissue homeostasis|
|positive regulation of peptidyl-tyrosine phosphorylation|
|positive regulation of DNA metabolic process|
|response to reactive oxygen species|
|regulation of response to DNA damage stimulus|
|regulation of stress-activated MAPK cascade|
|regulation of stress-activated protein kinase signaling cascade|
|regulation of gene expression, epigenetic|
|regulation of peptidyl-tyrosine phosphorylation|
|positive regulation of MAP kinase activity|
|protein-containing complex binding|
|apoptotic signaling pathway|
|DNA conformation change|
|response to light stimulus|
|multicellular organismal homeostasis|
|activation of protein kinase activity|
|positive regulation of protein serine/threonine kinase activity|
|anatomical structure homeostasis|
|regulation of MAP kinase activity|
|regulation of DNA metabolic process|
|MAPK cascade|
|response to oxidative stress|
|developmental growth|
|growth|
|signal transduction by protein phosphorylation|
|chromatin binding|
|response to radiation|
|transcription by RNA polymerase II|
|response to toxic substance|
|DNA repair|
|regulation of protein serine/threonine kinase activity|
|response to inorganic substance|
|positive regulation of protein kinase activity|
|positive regulation of MAPK cascade|
|positive regulation of kinase activity|
|transcription, DNA-templated|
|nucleic acid-templated transcription|
|RNA biosynthetic process|
|positive regulation of transferase activity|
|regulation of cellular response to stress|
|DNA metabolic process|
|regulation of MAPK cascade|
|cellular response to DNA damage stimulus|
|regulation of protein kinase activity|
|nucleolus|
|regulation of kinase activity|
|apoptotic process|
|protein phosphorylation|
|regulation of transferase activity|
|positive regulation of protein phosphorylation|
|positive regulation of intracellular signal transduction|
|programmed cell death|
|positive regulation of phosphorylation|
|chromosome organization|
|cell death|
|nucleobase-containing compound biosynthetic process|
|positive regulation of phosphorus metabolic process|
|positive regulation of phosphate metabolic process|
|response to abiotic stimulus|
|heterocycle biosynthetic process|
|aromatic compound biosynthetic process|
|positive regulation of protein modification process|
|phosphorylation|
|organic cyclic compound biosynthetic process|
|positive regulation of catalytic activity|
|regulation of protein phosphorylation|
|DNA binding|
|regulation of response to stress|
|ATP binding|
|positive regulation of transcription, DNA-templated|
|response to oxygen-containing compound|
|regulation of phosphorylation|
|positive regulation of cellular protein metabolic process|
|cellular nitrogen compound biosynthetic process|
|positive regulation of nucleic acid-templated transcription|
|positive regulation of RNA biosynthetic process|
|homeostatic process|
|positive regulation of signal transduction|
|RNA metabolic process|
|intracellular signal transduction|
|cellular response to stress|
|positive regulation of protein metabolic process|
|cellular macromolecule biosynthetic process|
|positive regulation of RNA metabolic process|
|macromolecule biosynthetic process|
|positive regulation of molecular function|
|regulation of phosphate metabolic process|
|regulation of phosphorus metabolic process|
|positive regulation of cell communication|
|positive regulation of signaling|
|regulation of intracellular signal transduction|
|regulation of protein modification process|
|positive regulation of nucleobase-containing compound metabolic process|
|positive regulation of macromolecule biosynthetic process|
|positive regulation of cellular biosynthetic process|
|positive regulation of gene expression|
|gene expression|
|positive regulation of biosynthetic 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]]|-3.66|
|[[:results:exp505|ML-792 0.2μM R08 exp505]]|-2.16|
|[[:results:exp354|Diepoxybutane 3μM R07 exp354]]|-1.85|
|[[:results:exp224|CB-839 10μM R05 exp224]]|-1.82|
|[[:results:exp148|SB202190 10μM R03 exp148]]|-1.82|
|[[:results:exp82|Torin1 0.08μM R02 exp82]]|-1.78|
|[[:results:exp292|Menadione 5μM R06 exp292]]|-1.73|
|[[:results:exp426|FBS-Wisent 0.1 R07 exp426]]|1.75|
|[[:results:exp198|Etoposide 0.1μM R05 exp198]]|1.91|
|[[:results:exp288|HMS-I2 10μM R06 exp288]]|1.94|
|[[:results:exp51|Nifuroxazide 1μM R01 exp51]]|2.23|
|[[:results:exp262|Alda-1 10μM R06 exp262]]|2.34|
|[[:results:exp360|Genistein 15μM R07 exp360]]|3.91|
</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>**: 5501
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 3.86 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='ERCC6 Expression in NALM6 Cells: 3.86'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>