APTX [The Human Chemical-Genetic Interaction Map Project]

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======= APTX =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: APTX
  * **<color #00a2e8>Official Name</color>**: aprataxin
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=54840|54840]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q7Z2E3|Q7Z2E3]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=APTX&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20APTX|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/606350|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a member of the histidine triad (HIT) superfamily. The encoded protein may play a role in single-stranded DNA repair through its nucleotide-binding activity and its diadenosine polyphosphate hydrolase activity. Mutations in this gene have been associated with ataxia-ocular apraxia. Alternatively spliced transcript variants have been identified for this gene.[provided by RefSeq, Aug 2010]. 
  * **<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'>
|DcpS C|
|HIT|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|DNA-3-diphospho-5-guanosine diphosphatase|
|single-strand break-containing DNA binding|
|DNA 5-adenosine monophosphate hydrolase activity|
|phosphoglycolate phosphatase activity|
|single strand break repair|
|mismatched DNA binding|
|DNA ligation|
|phosphoprotein binding|
|damaged DNA binding|
|double-stranded RNA binding|
|double-stranded DNA binding|
|protein N-terminus binding|
|single-stranded DNA binding|
|chromatin|
|response to hydrogen peroxide|
|double-strand break repair|
|response to reactive oxygen species|
|nuclear chromatin|
|regulation of protein stability|
|nucleic acid phosphodiester bond hydrolysis|
|response to antibiotic|
|dephosphorylation|
|response to oxidative stress|
|chromatin binding|
|response to toxic substance|
|DNA repair|
|response to inorganic substance|
|DNA metabolic process|
|cellular response to DNA damage stimulus|
|nucleolus|
|response to drug|
|response to oxygen-containing compound|
|cellular response to stress|
</modal>
\\

 === CRISPR Data ===
<button type='default' 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'>
No hits were found.
</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>**: 3848
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.95 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='APTX Expression in NALM6 Cells: 4.95'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>