CIRH1A [The Human Chemical-Genetic Interaction Map Project]

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======= CIRH1A =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: UTP4
  * **<color #00a2e8>Official Name</color>**: UTP4 small subunit processome component
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=84916|84916]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q969X6|Q969X6]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=CIRH1A&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20CIRH1A|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/607456|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a WD40-repeat-containing protein that is localized to the nucleolus. Mutation of this gene causes North American Indian childhood cirrhosis, a severe intrahepatic cholestasis that results in transient neonatal jaundice, and progresses to periportal fibrosis and cirrhosis in childhood and adolescence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Ribosome biogenesis factor. Involved in nucleolar processing of pre-18S ribosomal RNA. Involved in small subunit (SSU) pre-rRNA processing at sites A', A0, 1 and 2b. Required for optimal pre-ribosomal RNA transcription by RNA polymerase (PubMed:17699751, PubMed:19732766). May be a transcriptional regulator. Acts as a positive regulator of HIVEP1 which specifically binds to the DNA sequence 5'-GGGACTTTCC-3' found in enhancer elements of numerous viral promoters such as those of HIV-1, SV40, or CMV (PubMed:19732766). {ECO:0000269|PubMed:17699751, ECO:0000269|PubMed:19732766, ECO:0000269|PubMed:22916032}.

<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'>
|t-UTP complex|
|90S preribosome|
|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|
|small-subunit processome|
|maturation of SSU-rRNA|
|ribosomal small subunit biogenesis|
|chromosome|
|fibrillar center|
|rRNA processing|
|rRNA metabolic process|
|ribosome biogenesis|
|ncRNA processing|
|ribonucleoprotein complex biogenesis|
|ncRNA metabolic process|
|nucleolus|
|RNA processing|
|RNA binding|
|RNA metabolic 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:exp233|EPZ-5676 30μM R05 exp233]]|1.88|
</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: 739/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|1/1|
|909776.0|1/1|
|bile duct|28/28|
|blood|28/28|
|bone|26/26|
|breast|33/33|
|central nervous system|56/56|
|cervix|4/4|
|colorectal|17/17|
|esophagus|13/13|
|fibroblast|1/1|
|gastric|16/16|
|kidney|21/21|
|liver|20/20|
|lung|75/75|
|lymphocyte|16/16|
|ovary|26/26|
|pancreas|24/24|
|peripheral nervous system|16/16|
|plasma cell|15/15|
|prostate|1/1|
|skin|24/24|
|soft tissue|9/9|
|thyroid|2/2|
|upper aerodigestive|22/22|
|urinary tract|29/29|
|uterus|5/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 856
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 6.9 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='CIRH1A Expression in NALM6 Cells: 6.9'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>