SMNDC1 [The Human Chemical-Genetic Interaction Map Project]

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======= SMNDC1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: SMNDC1
  * **<color #00a2e8>Official Name</color>**: survival motor neuron 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=10285|10285]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/O75940|O75940]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=SMNDC1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20SMNDC1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/603519|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene is a paralog of SMN1 gene, which encodes the survival motor neuron protein, mutations in which are cause of autosomal recessive proximal spinal muscular atrophy. The protein encoded by this gene is a nuclear protein that has been identified as a constituent of the spliceosome complex. This gene is differentially expressed, with abundant levels in skeletal muscle, and may share similar cellular function as the SMN1 gene. [provided by RefSeq, Jul 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Necessary for spliceosome assembly. Overexpression causes apoptosis. {ECO:0000269|PubMed:11331295, ECO:0000269|PubMed:11331595, ECO:0000269|PubMed:9817934}.

<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'>
|SMN|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|Cajal body|
|spliceosomal complex|
|mRNA splicing, via spliceosome|
|RNA splicing, via transesterification reactions with bulged adenosine as nucleophile|
|RNA splicing, via transesterification reactions|
|RNA splicing|
|nuclear speck|
|mRNA processing|
|mRNA metabolic process|
|RNA processing|
|apoptotic process|
|programmed cell death|
|cell death|
|RNA binding|
|RNA metabolic process|
|gene expression|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='primary' 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:exp256|HMS-I1 10μM R06 exp256]]|-2.19|
|[[:results:exp517|Quercetin 20μM R08 exp517]]|-1.94|
|[[:results:exp532|TIC10 10μM R08 exp532]]|-1.79|
|[[:results:exp288|HMS-I2 10μM R06 exp288]]|1.71|
|[[:results:exp419|Tunicamycin 0.04 to 0.075μM  on day4 R07 exp419]]|1.74|
|[[:results:exp418|Tunicamycin 0.04μM R07 exp418]]|1.76|
|[[:results:exp12|Chloramphenicol 2μM R00 exp12]]|1.82|
|[[:results:exp405|Tenofovir 10μM R07 exp405]]|1.83|
|[[:results:exp6|Bortezomib 0.005μM R00 exp6]]|1.89|
|[[:results:exp389|PF-06409577 20μM R07 exp389]]|1.94|
|[[:results:exp317|Geldanamycin 0.015 to 0.05μM on day4 R07 exp317]]|2.41|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:p:prpf3|PRPF3]]|0.425|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 348/726
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|1/1|
|909776.0|0/1|
|bile duct|13/28|
|blood|5/28|
|bone|13/25|
|breast|15/33|
|central nervous system|32/56|
|cervix|2/4|
|colorectal|9/17|
|esophagus|1/13|
|fibroblast|1/1|
|gastric|6/15|
|kidney|4/21|
|liver|9/20|
|lung|46/75|
|lymphocyte|13/14|
|ovary|15/26|
|pancreas|9/24|
|peripheral nervous system|8/16|
|plasma cell|11/15|
|prostate|0/1|
|skin|11/24|
|soft tissue|2/7|
|thyroid|1/2|
|upper aerodigestive|7/22|
|urinary tract|18/29|
|uterus|3/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 1318
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.77 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='SMNDC1 Expression in NALM6 Cells: 5.77'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>