======= ATXN7 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: ATXN7
  * **<color #00a2e8>Official Name</color>**: ataxin 7
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=6314|6314]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/O15265|O15265]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=ATXN7&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20ATXN7|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/607640|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the 'pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. This locus has been mapped to chromosome 3, and it has been determined that the diseased allele associated with spinocerebellar ataxia-7 contains 37-306 CAG repeats (near the N-terminus), compared to 4-35 in the normal allele. The encoded protein is a component of the SPT3/TAF9/GCN5 acetyltransferase (STAGA) and TBP-free TAF-containing (TFTC) chromatin remodeling complexes, and it thus plays a role in transcriptional regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Acts as component of the STAGA transcription coactivator-HAT complex. Mediates the interaction of STAGA complex with the CRX and is involved in CRX-dependent gene activation. Necessary for microtubule cytoskeleton stabilization. {ECO:0000269|PubMed:22100762}.

<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'>
|SCA7|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|histone deubiquitination|
|nuclear matrix|
|nucleus organization|
|microtubule cytoskeleton|
|visual perception|
|sensory perception of light stimulus|
|protein deubiquitination|
|protein modification by small protein removal|
|histone modification|
|covalent chromatin modification|
|microtubule cytoskeleton organization|
|microtubule-based process|
|chromatin organization|
|nucleolus|
|sensory perception|
|protein modification by small protein conjugation or removal|
|chromosome organization|
|cytoskeleton organization|
|proteolysis|
|nervous system process|
|system process|
</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:exp374|Latrunculin-B 10μM R07 exp374]]|-2.01|
|[[:results:exp446|4-Nitroquinoline-1-oxide 0.5μM R08 exp446]]|-1.74|
|[[:results:exp432|YM155 0.001μM R08 exp432]]|1.71|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:s:supt7l|SUPT7L]]|0.524|
|[[:human genes:t:tada2b|TADA2B]]|0.508|
|[[:human genes:t:taf6l|TAF6L]]|0.501|
|[[:human genes:k:kat2a|KAT2A]]|0.468|
|[[:human genes:t:taf5l|TAF5L]]|0.452|
|[[:human genes:m:med13l|MED13L]]|0.443|
|[[:human genes:m:med13|MED13]]|0.425|
|[[:human genes:u:usp22|USP22]]|0.403|
</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>**: 5305
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.9 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='ATXN7 Expression in NALM6 Cells: 5.9'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>