DFNB31 [The Human Chemical-Genetic Interaction Map Project]

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======= DFNB31 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: WHRN
  * **<color #00a2e8>Official Name</color>**: whirlin
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=25861|25861]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9P202|Q9P202]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=DFNB31&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20DFNB31|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/607928|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene is thought to function in the organization and stabilization of sterocilia elongation and actin cystoskeletal assembly, based on studies of the related mouse gene. Mutations in this gene have been associated with autosomal recessive non-syndromic deafness and Usher Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]. 
  * **<color #00a2e8>UniProt Summary</color>**: N/A

<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'>
|PDZ|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|paranodal junction maintenance|
|USH2 complex|
|stereocilia ankle link|
|stereocilia ankle link complex|
|periciliary membrane compartment|
|cerebellar Purkinje cell layer formation|
|auditory receptor cell stereocilium organization|
|cell-cell junction maintenance|
|detection of mechanical stimulus involved in sensory perception of sound|
|auditory receptor cell morphogenesis|
|cerebellar Purkinje cell layer morphogenesis|
|cell junction maintenance|
|stereocilium tip|
|auditory receptor cell development|
|cerebellar cortex formation|
|cerebellar Purkinje cell layer development|
|inner ear auditory receptor cell differentiation|
|inner ear receptor cell stereocilium organization|
|detection of mechanical stimulus involved in sensory perception|
|cerebellar cortex morphogenesis|
|stereocilium|
|hair cell differentiation|
|cerebellum morphogenesis|
|photoreceptor connecting cilium|
|hindbrain morphogenesis|
|inner ear receptor cell development|
|neuroepithelial cell differentiation|
|detection of mechanical stimulus|
|cellular component maintenance|
|cerebellar cortex development|
|photoreceptor inner segment|
|columnar/cuboidal epithelial cell development|
|inner ear receptor cell differentiation|
|mechanoreceptor differentiation|
|retina homeostasis|
|actin filament|
|columnar/cuboidal epithelial cell differentiation|
|inner ear morphogenesis|
|cerebellum development|
|metencephalon development|
|ear morphogenesis|
|detection of external stimulus|
|detection of abiotic stimulus|
|growth cone|
|ciliary basal body|
|cell-cell junction organization|
|sensory perception of sound|
|hindbrain development|
|sensory perception of mechanical stimulus|
|tissue homeostasis|
|epithelial cell development|
|inner ear development|
|response to mechanical stimulus|
|cell junction organization|
|ear development|
|sensory perception of light stimulus|
|sensory organ morphogenesis|
|synapse|
|embryonic organ morphogenesis|
|epidermal cell differentiation|
|multicellular organismal homeostasis|
|anatomical structure homeostasis|
|neuronal cell body|
|epidermis development|
|cell morphogenesis involved in neuron differentiation|
|embryonic organ development|
|protein heterodimerization activity|
|detection of stimulus involved in sensory perception|
|sensory organ development|
|cell junction|
|cell morphogenesis involved in differentiation|
|embryonic morphogenesis|
|neuron projection development|
|epithelial cell differentiation|
|detection of stimulus|
|cell morphogenesis|
|brain development|
|head development|
|neuron development|
|cellular component morphogenesis|
|protein homodimerization activity|
|anatomical structure formation involved in morphogenesis|
|animal organ morphogenesis|
|sensory perception|
|embryo development|
|central nervous system development|
|neuron differentiation|
|epithelium development|
|plasma membrane bounded cell projection organization|
|cell projection organization|
|response to abiotic stimulus|
|nervous system process|
|generation of neurons|
|establishment of protein localization|
|neurogenesis|
|homeostatic process|
|cell development|
|tissue development|
|system process|
|positive regulation of 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:exp505|ML-792 0.2μM R08 exp505]]|-1.92|
|[[:results:exp357|Dorsomorphin 5μM R07 exp357]]|-1.76|
|[[:results:exp273|Cisplatin 0.35μM R06 exp273]]|1.84|
</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>**: 8150
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 0.15 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='DFNB31 Expression in NALM6 Cells: 0.15'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>