COL12A1 [The Human Chemical-Genetic Interaction Map Project]

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======= COL12A1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: COL12A1
  * **<color #00a2e8>Official Name</color>**: collagen type XII 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=1303|1303]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q99715|Q99715]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=COL12A1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20COL12A1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/120320|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in association with type I collagen, an association that is thought to modify the interactions between collagen I fibrils and the surrounding matrix. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Type XII collagen interacts with type I collagen- containing fibrils, the COL1 domain could be associated with the surface of the fibrils, and the COL2 and NC3 domains may be localized in the perifibrillar matrix. {ECO:0000250}.

<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'>
|VWA|
|fn3|
|Collagen|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|collagen type XII trimer|
|growth plate cartilage chondrocyte morphogenesis|
|chondrocyte morphogenesis involved in endochondral bone morphogenesis|
|chondrocyte morphogenesis|
|growth plate cartilage morphogenesis|
|growth plate cartilage chondrocyte differentiation|
|chondrocyte development involved in endochondral bone morphogenesis|
|cartilage morphogenesis|
|chondrocyte differentiation involved in endochondral bone morphogenesis|
|growth plate cartilage development|
|extracellular matrix structural constituent conferring tensile strength|
|endodermal cell differentiation|
|endochondral bone growth|
|chondrocyte development|
|cartilage development involved in endochondral bone morphogenesis|
|bone growth|
|collagen fibril organization|
|endoderm formation|
|extracellular vesicle|
|endochondral bone morphogenesis|
|endoderm development|
|chondrocyte differentiation|
|organ growth|
|formation of primary germ layer|
|bone morphogenesis|
|gastrulation|
|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|
|supramolecular fiber organization|
|skeletal system development|
|cell morphogenesis involved in differentiation|
|tissue morphogenesis|
|embryonic morphogenesis|
|cell morphogenesis|
|cellular component morphogenesis|
|anatomical structure formation involved in morphogenesis|
|cell adhesion|
|biological adhesion|
|animal organ morphogenesis|
|embryo development|
|extracellular space|
|cell development|
|tissue development|
|protein-containing complex subunit organization|
|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:exp493|IL-3 9ng/ml R08 exp493]]|1.91|
</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>**: 4957
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -2.9 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='COL12A1 Expression in NALM6 Cells: -2.9'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>