DGCR14 [The Human Chemical-Genetic Interaction Map Project]

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======= DGCR14 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: ESS2
  * **<color #00a2e8>Official Name</color>**: ess-2 splicing factor homolog
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=8220|8220]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q96DF8|Q96DF8]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=DGCR14&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20DGCR14|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/601755|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene is located within the minimal DGS critical region (MDGCR) thought to contain the gene(s) responsible for a group of developmental disorders. These disorders include DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and some familial or sporadic conotruncal cardiac defects which have been associated with microdeletion of 22q11.2. The encoded protein may be a component of C complex spliceosomes, and the orthologous protein in the mouse localizes to the nucleus. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]. 
  * **<color #00a2e8>UniProt Summary</color>**:  May be involved in pre-mRNA splicing. {ECO:0000250|UniProtKB:P34420}.

<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'>
|Es2|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|catalytic step 2 spliceosome|
|RNA splicing, via transesterification reactions with bulged adenosine as nucleophile|
|mRNA splicing, via spliceosome|
|RNA splicing, via transesterification reactions|
|RNA splicing|
|mRNA processing|
|mRNA metabolic process|
|molecular function|
|RNA processing|
|RNA metabolic process|
|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:exp438|NN-Diethyl-meta-toluamide 500μM R08 exp438]]|1.74|
|[[:results:exp519|RS-1 10μM R08 exp519]]|1.79|
|[[:results:exp177|Apcin 25μM plus proTAME 2μM R04 exp177]]|2.03|
|[[:results:exp292|Menadione 5μM R06 exp292]]|2.09|
|[[:results:exp153|SGC2096 2.6μM R03 exp153]]|2.45|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:p:polr2j3|POLR2J3]]|0.512|
|[[:human genes:r:ranbp2|RANBP2]]|0.403|
|[[:human genes:n:narfl|NARFL]]|0.402|
|[[:human genes:s:supt6h|SUPT6H]]|0.401|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 259/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|1/1|
|909776.0|0/1|
|bile duct|11/28|
|blood|9/28|
|bone|11/26|
|breast|18/33|
|central nervous system|14/56|
|cervix|0/4|
|colorectal|8/17|
|esophagus|3/13|
|fibroblast|0/1|
|gastric|9/16|
|kidney|7/21|
|liver|7/20|
|lung|24/75|
|lymphocyte|9/16|
|ovary|15/26|
|pancreas|5/24|
|peripheral nervous system|3/16|
|plasma cell|5/15|
|prostate|0/1|
|skin|6/24|
|soft tissue|1/9|
|thyroid|0/2|
|upper aerodigestive|6/22|
|urinary tract|8/29|
|uterus|2/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 1422
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.62 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='DGCR14 Expression in NALM6 Cells: 4.62'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>