COL27A1 [The Human Chemical-Genetic Interaction Map Project]

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======= COL27A1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: COL27A1
  * **<color #00a2e8>Official Name</color>**: collagen type XXVII alpha 1 chain
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=85301|85301]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q8IZC6|Q8IZC6]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=COL27A1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20COL27A1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/608461|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a member of the fibrillar collagen family, and plays a role during the calcification of cartilage and the transition of cartilage to bone. The encoded protein product is a preproprotein. It includes an N-terminal signal peptide, which is followed by an N-terminal propetide, mature peptide and a C-terminal propeptide. The N-terminal propeptide contains thrombospondin N-terminal-like and laminin G-like domains. The mature peptide is a major triple-helical region. The C-terminal propeptide, also known as COLFI domain, plays crucial roles in tissue growth and repair. Mutations in this gene cause Steel syndrome. Alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Sep 2014]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Plays a role during the calcification of cartilage and the transition of cartilage to bone. {ECO:0000269|PubMed:17693149}.

<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'>
|Collagen|
|COLFI|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|fibrillar collagen trimer|
|growth plate cartilage chondrocyte development|
|chondrocyte development involved in endochondral bone morphogenesis|
|growth plate cartilage chondrocyte differentiation|
|chondrocyte differentiation involved in endochondral bone morphogenesis|
|growth plate cartilage development|
|extracellular matrix structural constituent conferring tensile strength|
|endochondral bone growth|
|chondrocyte development|
|bone growth|
|cartilage development involved in endochondral bone morphogenesis|
|endochondral bone morphogenesis|
|chondrocyte differentiation|
|organ growth|
|bone morphogenesis|
|extracellular matrix structural constituent|
|cartilage development|
|bone development|
|connective tissue development|
|extracellular matrix|
|skeletal system morphogenesis|
|endoplasmic reticulum lumen|
|extracellular matrix organization|
|collagen-containing extracellular matrix|
|extracellular structure organization|
|developmental growth|
|growth|
|skeletal system development|
|animal organ morphogenesis|
|extracellular space|
|cell development|
|tissue development|
|extracellular region|
</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:exp95|BI-2536 0.0042μM R03 exp95]]|-2.13|
|[[:results:exp143|Phenformin 20μM R03 exp143]]|-1.82|
|[[:results:exp151|SGC0946 7μM R03 exp151]]|-1.73|
|[[:results:exp67|BVD-523 15μM R02 exp67]]|1.7|
</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>**: 7076
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.34 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='COL27A1 Expression in NALM6 Cells: 4.34'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>