======= LARGE =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: LARGE1
  * **<color #00a2e8>Official Name</color>**: LARGE xylosyl- and glucuronyltransferase 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=9215|9215]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/O95461|O95461]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=LARGE&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20LARGE|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/603590|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene, which is one of the largest in the human genome, encodes a member of the N-acetylglucosaminyltransferase gene family. It encodes a glycosyltransferase which participates in glycosylation of alpha-dystroglycan, and may carry out the synthesis of glycoprotein and glycosphingolipid sugar chains. It may also be involved in the addition of a repeated disaccharide unit. Mutations in this gene cause MDC1D, a novel form of congenital muscular dystrophy with severe cognitive disability and abnormal glycosylation of alpha-dystroglycan. Alternative splicing of this gene results in two transcript variants that encode the same protein. [provided by RefSeq, Jul 2008]. 
  * **<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'>
|Glyco transf 8|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|xylosyltransferase activity|
|UDP-xylosyltransferase activity|
|N-acetylglucosamine metabolic process|
|transferase activity, transferring glycosyl groups|
|protein O-linked mannosylation|
|muscle cell cellular homeostasis|
|acetylglucosaminyltransferase activity|
|glycosphingolipid biosynthetic process|
|glucosamine-containing compound metabolic process|
|protein mannosylation|
|glucuronosyltransferase activity|
|skeletal muscle tissue regeneration|
|mannosylation|
|amino sugar metabolic process|
|manganese ion binding|
|integral component of Golgi membrane|
|tissue regeneration|
|glycolipid biosynthetic process|
|glycosphingolipid metabolic process|
|sphingolipid biosynthetic process|
|glycolipid metabolic process|
|liposaccharide metabolic process|
|protein O-linked glycosylation|
|membrane lipid biosynthetic process|
|skeletal muscle organ development|
|sphingolipid metabolic process|
|regeneration|
|membrane lipid metabolic process|
|protein glycosylation|
|macromolecule glycosylation|
|glycosylation|
|muscle organ development|
|glycoprotein biosynthetic process|
|anatomical structure homeostasis|
|glycoprotein metabolic process|
|developmental growth|
|growth|
|muscle structure development|
|wound healing|
|response to wounding|
|lipid biosynthetic process|
|carbohydrate derivative biosynthetic process|
|Golgi membrane|
|cellular homeostasis|
|cellular lipid metabolic process|
|Golgi apparatus|
|carbohydrate derivative metabolic process|
|lipid metabolic process|
|organonitrogen compound biosynthetic process|
|homeostatic process|
|cellular macromolecule biosynthetic process|
|tissue development|
|macromolecule biosynthetic 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:exp518|RK-33 8μM R08 exp518]]|-1.7|
|[[:results:exp176|Apcin 50 to 100μM on day4 R04 exp176]]|1.74|
|[[:results:exp318|ABT-702 5μM R07 exp318]]|1.89|
|[[:results:exp445|∆-9-Tetrahydrocannabinol 30μM R08 exp445]]|2.1|
</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>**: 12019
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.17 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='LARGE Expression in NALM6 Cells: 4.17'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>