B9D1 [The Human Chemical-Genetic Interaction Map Project]

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======= B9D1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: B9D1
  * **<color #00a2e8>Official Name</color>**: B9 domain containing 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=27077|27077]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9UPM9|Q9UPM9]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=B9D1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20B9D1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/614144|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a B9 domain-containing protein, one of several that are involved in ciliogenesis. Alterations in expression of this gene have been found in a family with Meckel syndrome. Meckel syndrome has been associated with at least six different genes. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Mar 2016]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity). {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'>
|B9|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|hedgehog receptor activity|
|MKS complex|
|ciliary transition zone|
|neuroepithelial cell differentiation|
|embryonic digit morphogenesis|
|smoothened signaling pathway|
|columnar/cuboidal epithelial cell differentiation|
|ciliary basal body-plasma membrane docking|
|embryonic limb morphogenesis|
|embryonic appendage morphogenesis|
|ciliary basal body|
|limb morphogenesis|
|appendage morphogenesis|
|organelle localization by membrane tethering|
|membrane docking|
|limb development|
|appendage development|
|camera-type eye development|
|cilium assembly|
|eye development|
|visual system development|
|sensory system development|
|cilium organization|
|in utero embryonic development|
|plasma membrane bounded cell projection assembly|
|cell projection assembly|
|centrosome|
|vasculature development|
|cardiovascular system development|
|sensory organ development|
|embryonic morphogenesis|
|organelle localization|
|chordate embryonic development|
|embryo development ending in birth or egg hatching|
|epithelial cell differentiation|
|organelle assembly|
|circulatory system development|
|embryo development|
|regulation of protein localization|
|epithelium development|
|plasma membrane bounded cell projection organization|
|cell projection organization|
|tissue development|
|membrane|
</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:exp326|CCT251545 20μM R07 exp326]]|1.81|
|[[:results:exp153|SGC2096 2.6μM R03 exp153]]|1.84|
</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>**: 13414
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -0.8 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='B9D1 Expression in NALM6 Cells: -0.8'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>