NEB [The Human Chemical-Genetic Interaction Map Project]

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======= NEB =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: NEB
  * **<color #00a2e8>Official Name</color>**: nebulin
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=4703|4703]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P20929|P20929]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=NEB&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20NEB|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/161650|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be classified into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy. [provided by RefSeq, Sep 2009]. 
  * **<color #00a2e8>UniProt Summary</color>**:  This giant muscle protein may be involved in maintaining the structural integrity of sarcomeres and the membrane system associated with the myofibrils. Binds and stabilize F-actin.

<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'>
|SH3 1|
|Nebulin|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|somatic muscle development|
|cardiac muscle thin filament assembly|
|cardiac myofibril assembly|
|muscle filament sliding|
|actin-myosin filament sliding|
|structural constituent of muscle|
|muscle fiber development|
|cardiac muscle cell development|
|cardiac cell development|
|myofibril assembly|
|cardiac muscle cell differentiation|
|actin-mediated cell contraction|
|cellular component assembly involved in morphogenesis|
|actin filament-based movement|
|actomyosin structure organization|
|cardiocyte differentiation|
|Z disc|
|striated muscle cell development|
|muscle cell development|
|cardiac muscle tissue development|
|regulation of actin filament length|
|striated muscle cell differentiation|
|actin filament binding|
|actin cytoskeleton|
|actin filament organization|
|muscle cell differentiation|
|muscle contraction|
|striated muscle tissue development|
|muscle organ development|
|muscle tissue development|
|muscle system process|
|regulation of actin cytoskeleton organization|
|regulation of cellular component size|
|regulation of actin filament-based process|
|supramolecular fiber organization|
|muscle structure development|
|actin cytoskeleton organization|
|regulation of anatomical structure size|
|heart development|
|regulation of cytoskeleton organization|
|actin filament-based process|
|organelle assembly|
|cellular component morphogenesis|
|circulatory system development|
|anatomical structure formation involved in morphogenesis|
|cytoskeleton organization|
|regulation of organelle organization|
|movement of cell or subcellular component|
|cell development|
|tissue 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:exp46|HMS-I1 1μM R01 exp46]]|-1.97|
|[[:results:exp453|B02 10μM R08 exp453]]|-1.82|
|[[:results:exp505|ML-792 0.2μM R08 exp505]]|-1.78|
|[[:results:exp49|NFN1 0.1μM R01 exp49]]|-1.71|
|[[:results:exp478|Doxorubicin 0.02μM R08 exp478]]|2|
</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>**: 8107
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.51 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='NEB Expression in NALM6 Cells: 4.51'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>