======= FKRP =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: FKRP
  * **<color #00a2e8>Official Name</color>**: fukutin related protein
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=79147|79147]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9H9S5|Q9H9S5]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=FKRP&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20FKRP|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/606596|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a protein which is targeted to the medial Golgi apparatus and is necessary for posttranslational modification of dystroglycan. Mutations in this gene have been associated with congenital muscular dystrophy, cognitive disability, and cerebellar cysts. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Oct 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Transferase involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine- beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity. {ECO:0000269|PubMed:25279699}.

<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'>
|LicD|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|dystroglycan binding|
|protein O-linked mannosylation|
|protein mannosylation|
|mannosylation|
|transferase activity|
|rough endoplasmic reticulum|
|sarcolemma|
|protein O-linked glycosylation|
|protein processing|
|protein maturation|
|macromolecule glycosylation|
|protein glycosylation|
|glycosylation|
|glycoprotein biosynthetic process|
|glycoprotein metabolic process|
|carbohydrate derivative biosynthetic process|
|Golgi membrane|
|Golgi apparatus|
|carbohydrate derivative metabolic process|
|proteolysis|
|organonitrogen compound biosynthetic process|
|extracellular space|
|cellular macromolecule biosynthetic process|
|macromolecule biosynthetic 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:exp75|MK-1775 0.32μM R02 exp75]]|-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>**: 13222
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.09 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='FKRP Expression in NALM6 Cells: 5.09'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>