USB1 [The Human Chemical-Genetic Interaction Map Project]

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======= USB1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: USB1
  * **<color #00a2e8>Official Name</color>**: U6 snRNA biogenesis phosphodiesterase 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=79650|79650]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9BQ65|Q9BQ65]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=USB1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20USB1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/613276|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a protein with several conserved domains, however, its exact function is not known. Mutations in this gene are associated with poikiloderma with neutropenia (PN), which shows phenotypic overlap with Rothmund-Thomson syndrome (RTS) caused by mutations in the RECQL4 gene. It is believed that this gene product interacts with RECQL4 protein via SMAD4 proteins, explaining the partial clinical overlap between PN and RTS. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2011]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Phosphodiesterase responsible for the U6 snRNA 3' end processing. Acts as an exoribonuclease (RNase) responsible for trimming the poly(U) tract of the last nucleotides in the pre-U6 snRNA molecule, leading to the formation of mature U6 snRNA 3' end-terminated with a 2',3'-cyclic phosphate. {ECO:0000255|HAMAP- Rule:MF_03040, ECO:0000269|PubMed:22899009, ECO:0000269|PubMed:23190533}.

<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'>
|HVSL|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|U6 snRNA 3-end processing|
|poly(U)-specific exoribonuclease activity, producing 3 uridine cyclic phosphate ends|
|snRNA 3-end processing|
|3-5-exoribonuclease activity|
|snRNA processing|
|RNA phosphodiester bond hydrolysis, exonucleolytic|
|snRNA metabolic process|
|ncRNA 3-end processing|
|intercellular bridge|
|RNA 3-end processing|
|RNA phosphodiester bond hydrolysis|
|nucleic acid phosphodiester bond hydrolysis|
|ncRNA processing|
|RNA splicing|
|ncRNA metabolic process|
|RNA processing|
|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:exp71|KU-0063794 3.8μM R02 exp71]]|-1.93|
|[[:results:exp224|CB-839 10μM R05 exp224]]|1.96|
</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>**: 3533
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.3 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='USB1 Expression in NALM6 Cells: 4.3'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>