AFF2 [The Human Chemical-Genetic Interaction Map Project]

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======= AFF2 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: AFF2
  * **<color #00a2e8>Official Name</color>**: AF4/FMR2 family member 2
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=2334|2334]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P51816|P51816]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=AFF2&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20AFF2|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/300806|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a putative transcriptional activator that is a member of the AF4FMR2 gene family. This gene is associated with the folate-sensitive fragile X E locus on chromosome X. A repeat polymorphism in the fragile X E locus results in silencing of this gene causing Fragile X E syndrome. Fragile X E syndrome is a form of nonsyndromic X-linked mental retardation. In addition, this gene contains 6-25 GCC repeats that are expanded to >200 repeats in the disease state. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jul 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'>
|AF-4|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|nuclear speck organization|
|ELL-EAF complex|
|G-quadruplex RNA binding|
|nuclear body organization|
|transcription elongation factor complex|
|double-stranded DNA binding|
|nucleus organization|
|regulation of RNA splicing|
|learning or memory|
|cognition|
|RNA splicing|
|nuclear speck|
|mRNA processing|
|behavior|
|DNA-binding transcription factor activity|
|mRNA metabolic process|
|brain development|
|head development|
|RNA processing|
|central nervous system development|
|nervous system process|
|RNA metabolic process|
|negative regulation of gene expression|
|system process|
|gene expression|
</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:exp123|GSK-LSD1 10μM R03 exp123]]|-1.94|
|[[:results:exp429|Rapamycin 0.001μM R08 exp429]]|-1.87|
|[[:results:exp114|A-196 10μM R03 exp114]]|-1.85|
|[[:results:exp536|Vitamin-D3 40μM R08 exp536]]|1.77|
</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: 0/683
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/26|
|bone|0/25|
|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|0/14|
|ovary|0/25|
|pancreas|0/22|
|peripheral nervous system|0/15|
|plasma cell|0/12|
|prostate|0/1|
|skin|0/20|
|soft tissue|0/7|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/28|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 6477
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 1.49 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='AFF2 Expression in NALM6 Cells: 1.49'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>