BEST1 [The Human Chemical-Genetic Interaction Map Project]

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======= BEST1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: BEST1
  * **<color #00a2e8>Official Name</color>**: bestrophin 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=7439|7439]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/O76090|O76090]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=BEST1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20BEST1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/607854|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a member of the bestrophin gene family. This small gene family is characterized by proteins with a highly conserved N-terminus with four to six transmembrane domains. Bestrophins may form chloride ion channels or may regulate voltage-gated L-type calcium-ion channels. Bestrophins are generally believed to form calcium-activated chloride-ion channels in epithelial cells but they have also been shown to be highly permeable to bicarbonate ion transport in retinal tissue. Mutations in this gene are responsible for juvenile-onset vitelliform macular dystrophy (VMD2), also known as Best macular dystrophy, in addition to adult-onset vitelliform macular dystrophy (AVMD) and other retinopathies. Alternative splicing results in multiple variants encoding distinct isoforms.[provided by RefSeq, Nov 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Forms calcium-sensitive chloride channels. Highly permeable to bicarbonate. {ECO:0000269|PubMed:11904445, ECO:0000269|PubMed:12907679, ECO:0000269|PubMed:18400985}.

<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'>
|Bestrophin|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|transepithelial chloride transport|
|transepithelial transport|
|detection of light stimulus involved in sensory perception|
|detection of light stimulus involved in visual perception|
|detection of visible light|
|chloride channel complex|
|chloride channel activity|
|detection of light stimulus|
|chloride transmembrane transport|
|chloride transport|
|inorganic anion transmembrane transport|
|detection of external stimulus|
|detection of abiotic stimulus|
|inorganic anion transport|
|basolateral plasma membrane|
|visual perception|
|sensory perception of light stimulus|
|regulation of calcium ion transport|
|anion transmembrane transport|
|response to light stimulus|
|regulation of metal ion transport|
|response to radiation|
|detection of stimulus involved in sensory perception|
|anion transport|
|inorganic ion transmembrane transport|
|detection of stimulus|
|regulation of ion transport|
|ion transmembrane transport|
|sensory perception|
|identical protein binding|
|response to abiotic stimulus|
|transmembrane transport|
|ion transport|
|nervous system process|
|regulation of transport|
|system process|
|membrane|
</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:exp535|Trimetrexate 0.03μM R08 exp535]]|-2.52|
|[[:results:exp159|Docetaxel 0.001 to 0.002μM on day4 R04 exp159]]|-1.79|
|[[:results:exp263|Aphidicolin 0.04μM R06 exp263]]|-1.76|
</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>**: 14825
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.67 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='BEST1 Expression in NALM6 Cells: 4.67'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>