ASXL1 [The Human Chemical-Genetic Interaction Map Project]

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======= ASXL1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: ASXL1
  * **<color #00a2e8>Official Name</color>**: ASXL transcriptional regulator 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=171023|171023]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q8IXJ9|Q8IXJ9]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=ASXL1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20ASXL1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/612990|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene is similar to the Drosophila additional sex combs gene, which encodes a chromatin-binding protein required for normal determination of segment identity in the developing embryo. The protein is a member of the Polycomb group of proteins, which are necessary for the maintenance of stable repression of homeotic and other loci. The protein is thought to disrupt chromatin in localized areas, enhancing transcription of certain genes while repressing the transcription of other genes. The protein encoded by this gene functions as a ligand-dependent co-activator for retinoic acid receptor in cooperation with nuclear receptor coactivator 1. Mutations in this gene are associated with myelodysplastic syndromes and chronic myelomonocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]. 
  * **<color #00a2e8>UniProt Summary</color>**: N/A

<button type='default' 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'>
No Pfam Domain information is available for this gene.
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|negative regulation of peroxisome proliferator activated receptor signaling pathway|
|positive regulation of retinoic acid receptor signaling pathway|
|PR-DUB complex|
|monoubiquitinated histone H2A deubiquitination|
|monoubiquitinated histone deubiquitination|
|lung saccule development|
|bone marrow development|
|monoubiquitinated protein deubiquitination|
|peroxisome proliferator activated receptor binding|
|retinoic acid receptor binding|
|regulation of peroxisome proliferator activated receptor signaling pathway|
|regulation of retinoic acid receptor signaling pathway|
|histone deubiquitination|
|lung alveolus development|
|thymus development|
|negative regulation of fat cell differentiation|
|response to retinoic acid|
|regulation of fat cell differentiation|
|lung development|
|respiratory tube development|
|respiratory system development|
|bone development|
|homeostasis of number of cells|
|nuclear chromatin|
|heart morphogenesis|
|protein deubiquitination|
|transcription coactivator activity|
|protein modification by small protein removal|
|response to acid chemical|
|histone modification|
|covalent chromatin modification|
|chromatin binding|
|gland development|
|skeletal system development|
|heart development|
|hemopoiesis|
|hematopoietic or lymphoid organ development|
|transcription, DNA-templated|
|nucleic acid-templated transcription|
|immune system development|
|RNA biosynthetic process|
|chromatin organization|
|negative regulation of cell differentiation|
|cell morphogenesis|
|cellular component morphogenesis|
|tube development|
|response to lipid|
|circulatory system development|
|negative regulation of developmental process|
|animal organ morphogenesis|
|protein modification by small protein conjugation or removal|
|chromosome organization|
|nucleobase-containing compound biosynthetic process|
|heterocycle biosynthetic process|
|aromatic compound biosynthetic process|
|positive regulation of transcription by RNA polymerase II|
|negative regulation of signal transduction|
|proteolysis|
|organic cyclic compound biosynthetic process|
|negative regulation of cell communication|
|negative regulation of signaling|
|DNA binding|
|positive regulation of transcription, DNA-templated|
|response to oxygen-containing compound|
|negative regulation of response to stimulus|
|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|
|cellular macromolecule biosynthetic process|
|positive regulation of RNA metabolic process|
|tissue development|
|macromolecule biosynthetic process|
|regulation of cell differentiation|
|positive regulation of cell communication|
|positive regulation of signaling|
|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:exp282|Fluvastatin 2.2μM R06 exp282]]|1.75|
|[[:results:exp431|Rotenone 0.07μM R08 exp431]]|1.84|
</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: 0/726
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/25|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/15|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/14|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/7|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 6252
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 7.92 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='ASXL1 Expression in NALM6 Cells: 7.92'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>