======= AAAS =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: AAAS
  * **<color #00a2e8>Official Name</color>**: aladin WD repeat nucleoporin
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=8086|8086]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9NRG9|Q9NRG9]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=AAAS&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20AAAS|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/605378|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  The protein encoded by this gene is a member of the WD-repeat family of regulatory proteins and may be involved in normal development of the peripheral and central nervous system. The encoded protein is part of the nuclear pore complex and is anchored there by NDC1. Defects in this gene are a cause of achalasia-addisonianism-alacrima syndrome (AAAS), also called triple-A syndrome or Allgrove syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Plays a role in the normal development of the peripheral and central nervous system.

<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'>
|tRNA export from nucleus|
|tRNA-containing ribonucleoprotein complex export from nucleus|
|tRNA transport|
|mitotic spindle assembly|
|ncRNA export from nucleus|
|intracellular transport of virus|
|host cell|
|transport of virus|
|protein sumoylation|
|multi-organism transport|
|multi-organism localization|
|nuclear pore|
|mitotic spindle organization|
|mitotic spindle|
|regulation of glycolytic process|
|regulation of cellular response to heat|
|regulation of gene silencing by miRNA|
|regulation of carbohydrate catabolic process|
|regulation of posttranscriptional gene silencing|
|regulation of gene silencing by RNA|
|microtubule bundle formation|
|spindle assembly|
|microtubule cytoskeleton organization involved in mitosis|
|regulation of nucleocytoplasmic transport|
|mRNA export from nucleus|
|mRNA-containing ribonucleoprotein complex export from nucleus|
|viral transcription|
|regulation of purine nucleotide metabolic process|
|regulation of nucleotide metabolic process|
|regulation of ATP metabolic process|
|spindle pole|
|ribonucleoprotein complex export from nucleus|
|ribonucleoprotein complex localization|
|RNA export from nucleus|
|regulation of gene silencing|
|viral gene expression|
|learning|
|mitotic nuclear division|
|protein export from nucleus|
|spindle organization|
|mRNA transport|
|nuclear export|
|regulation of generation of precursor metabolites and energy|
|fertilization|
|nuclear envelope|
|nucleic acid transport|
|RNA transport|
|establishment of RNA localization|
|viral life cycle|
|regulation of carbohydrate metabolic process|
|RNA localization|
|nuclear membrane|
|nucleobase-containing compound transport|
|protein-containing complex localization|
|learning or memory|
|nucleocytoplasmic transport|
|nuclear transport|
|nuclear division|
|cognition|
|organelle fission|
|peptidyl-lysine modification|
|regulation of intracellular transport|
|regulation of small molecule metabolic process|
|microtubule cytoskeleton organization|
|centrosome|
|behavior|
|mitotic cell cycle process|
|microtubule-based process|
|mitotic cell cycle|
|viral process|
|regulation of cellular response to stress|
|organelle assembly|
|molecular function|
|protein modification by small protein conjugation|
|symbiotic process|
|interspecies interaction between organisms|
|sexual reproduction|
|peptidyl-amino acid modification|
|regulation of cellular localization|
|protein modification by small protein conjugation or removal|
|intracellular protein transport|
|regulation of catabolic process|
|multi-organism reproductive process|
|cell cycle process|
|cytoskeleton organization|
|cell cycle|
|nervous system process|
|reproductive process|
|reproduction|
|regulation of response to stress|
|protein transport|
|intracellular transport|
|peptide transport|
|amide transport|
|cellular protein localization|
|regulation of phosphorylation|
|cellular macromolecule localization|
|establishment of protein localization|
|regulation of phosphate metabolic process|
|regulation of phosphorus metabolic process|
|establishment of localization in cell|
|nitrogen compound transport|
|regulation of transport|
|system process|
|membrane|
|gene expression|
</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:exp436|Dynasore 7μM R08 exp436]]|-2.69|
|[[:results:exp180|Dynasore 10μM R04 exp180]]|-2.44|
|[[:results:exp487|Hinokiflavone 12μM R08 exp487]]|-1.86|
|[[:results:exp148|SB202190 10μM R03 exp148]]|-1.75|
|[[:results:exp14|Cycloheximide 0.02μM R00 exp14]]|1.7|
|[[:results:exp51|Nifuroxazide 1μM R01 exp51]]|1.7|
|[[:results:exp45|Docetaxel 0.002μM R01 exp45]]|1.75|
|[[:results:exp240|Pyridostatin 4μM R05 exp240]]|1.79|
|[[:results:exp405|Tenofovir 10μM R07 exp405]]|1.84|
|[[:results:exp41|BI-2536 0.001μM R01 exp41]]|1.92|
|[[:results:exp40|2-Methoxyestradiol 0.2μM R01 exp40]]|1.93|
|[[:results:exp421|VHL-ligand-1 20μM R07 exp421]]|2|
|[[:results:exp58|UM131593 0.1μM R01 exp58]]|2.09|
|[[:results:exp376|Losmapimod 1μM R07 exp376]]|2.24|
|[[:results:exp47|Lapatinib 5μM R01 exp47]]|2.3|
|[[:results:exp53|Suberoylanilide-Hydroxamic-Acid 0.02μM R01 exp53]]|2.33|
|[[:results:exp42|BI-6727 0.001μM R01 exp42]]|2.63|
|[[:results:exp11|CCCP 1μM R00 exp11]]|2.83|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:c:c1qtnf9b|C1QTNF9B]]|0.522|
|[[:human genes:d:ddtl|DDTL]]|0.513|
|[[:human genes:n:ndc1|NDC1]]|0.51|
|[[:human genes:p:psmd3|PSMD3]]|0.484|
|[[:human genes:k:kpnb1|KPNB1]]|0.481|
|[[:human genes:c:cdca3|CDCA3]]|0.474|
|[[:human genes:c:c14orf93|C14orf93]]|0.472|
|[[:human genes:c:ckap5|CKAP5]]|0.465|
|[[:human genes:c:cdc73|CDC73]]|0.461|
|[[:human genes:t:tceb3cl2|TCEB3CL2]]|0.461|
|[[:human genes:a:ahctf1|AHCTF1]]|0.455|
|[[:human genes:a:atp13a1|ATP13A1]]|0.454|
|[[:human genes:c:cbwd3|CBWD3]]|0.452|
|[[:human genes:v:vasn|VASN]]|0.451|
|[[:human genes:n:nup188|NUP188]]|0.45|
|[[:human genes:s:snrpa1|SNRPA1]]|0.449|
|[[:human genes:s:smg7|SMG7]]|0.448|
|[[:human genes:d:dtl|DTL]]|0.448|
|[[:human genes:c:cdc6|CDC6]]|0.447|
|[[:human genes:p:psmd14|PSMD14]]|0.447|
|[[:human genes:z:zfand5|ZFAND5]]|0.447|
|[[:human genes:t:tbc1d3c|TBC1D3C]]|0.445|
|[[:human genes:a:akirin2|AKIRIN2]]|0.445|
|[[:human genes:p:plk1|PLK1]]|0.443|
|[[:human genes:p:psmd6|PSMD6]]|0.44|
|[[:human genes:m:madcam1|MADCAM1]]|0.435|
|[[:human genes:m:mum1|MUM1]]|0.434|
|[[:human genes:t:tbc1d3g|TBC1D3G]]|0.434|
|[[:human genes:r:rps2|RPS2]]|0.433|
|[[:human genes:c:cbwd6|CBWD6]]|0.433|
|[[:human genes:c:cbwd5|CBWD5]]|0.432|
|[[:human genes:p:pan2|PAN2]]|0.43|
|[[:human genes:t:tbc1d3h|TBC1D3H]]|0.429|
|[[:human genes:r:rpsa|RPSA]]|0.426|
|[[:human genes:n:nupl1|NUPL1]]|0.426|
|[[:human genes:r:rbm39|RBM39]]|0.425|
|[[:human genes:s:sf3a1|SF3A1]]|0.423|
|[[:human genes:o:ogfr|OGFR]]|0.422|
|[[:human genes:p:psmd1|PSMD1]]|0.421|
|[[:human genes:n:nup54|NUP54]]|0.42|
|[[:human genes:s:ssh2|SSH2]]|0.419|
|[[:human genes:c:cope|COPE]]|0.414|
|[[:human genes:t:ttyh1|TTYH1]]|0.412|
|[[:human genes:m:mt1e|MT1E]]|0.411|
|[[:human genes:t:timeless|TIMELESS]]|0.41|
|[[:human genes:l:lrr1|LRR1]]|0.41|
|[[:human genes:a:aqr|AQR]]|0.41|
|[[:human genes:f:fdx1l|FDX1L]]|0.409|
|[[:human genes:z:znf106|ZNF106]]|0.409|
|[[:human genes:c:chmp2a|CHMP2A]]|0.409|
|[[:human genes:p:psma6|PSMA6]]|0.408|
|[[:human genes:n:narfl|NARFL]]|0.406|
|[[:human genes:h:hist1h2be|HIST1H2BE]]|0.403|
|[[:human genes:r:rfxank|RFXANK]]|0.402|
|[[:human genes:f:fancm|FANCM]]|0.4|
|[[:human genes:r:rps12|RPS12]]|0.4|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 8/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|1/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|3/56|
|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|3/15|
|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>**: 1369
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.71 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='AAAS Expression in NALM6 Cells: 5.71'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>