RPGRIP1 [The Human Chemical-Genetic Interaction Map Project]

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======= RPGRIP1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: RPGRIP1
  * **<color #00a2e8>Official Name</color>**: RPGR interacting protein 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=57096|57096]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q96KN7|Q96KN7]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=RPGRIP1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20RPGRIP1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/605446|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a photoreceptor protein that interacts with retinitis pigmentosa GTPase regulator protein and is a key component of cone and rod photoreceptor cells. Mutations in this gene lead to autosomal recessive congenital blindness. [provided by RefSeq, Oct 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  May function as scaffolding protein. Required for normal location of RPGR at the connecting cilium of photoreceptor cells. Required for normal disk morphogenesis and disk organization in the outer segment of photoreceptor cells and for survival of photoreceptor cells. {ECO:0000250|UniProtKB:Q9EPQ2, ECO:0000305|PubMed:10958648}.

<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'>
|DUF3250|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|eye photoreceptor cell development|
|photoreceptor connecting cilium|
|eye photoreceptor cell differentiation|
|photoreceptor cell development|
|photoreceptor cell differentiation|
|neural precursor cell proliferation|
|axoneme|
|retina development in camera-type eye|
|eye morphogenesis|
|visual perception|
|sensory perception of light stimulus|
|sensory organ morphogenesis|
|camera-type eye development|
|eye development|
|visual system development|
|sensory system development|
|sensory organ development|
|cell population proliferation|
|neuron development|
|animal organ morphogenesis|
|sensory perception|
|neuron differentiation|
|nervous system process|
|generation of neurons|
|neurogenesis|
|cell development|
|system process|
</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:exp536|Vitamin-D3 40μM R08 exp536]]|-1.91|
|[[:results:exp134|MS023 2μM R03 exp134]]|1.75|
</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>**: 8025
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 0.94 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='RPGRIP1 Expression in NALM6 Cells: 0.94'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>