SMCHD1 [The Human Chemical-Genetic Interaction Map Project]

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======= SMCHD1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: SMCHD1
  * **<color #00a2e8>Official Name</color>**: structural maintenance of chromosomes flexible hinge 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=23347|23347]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/A6NHR9|A6NHR9]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=SMCHD1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20SMCHD1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/614982|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a protein which contains a hinge region domain found in members of the SMC (structural maintenance of chromosomes) protein family. [provided by RefSeq, Dec 2011]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Required for maintenance of X inactivation in females and hypermethylation of CpG islands associated with inactive X. Involved in a pathway that mediates the methylation of a subset of CpG islands slowly and requires the methyltransferase DNMT3B (By similarity). Required for DUX4 silencing in somatic cells (PubMed:23143600). {ECO:0000250|UniProtKB:Q6P5D8, ECO:0000269|PubMed:23143600}.

<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'>
|SMC hinge|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|inactivation of X chromosome by heterochromatin assembly|
|inactivation of X chromosome by DNA methylation|
|heterochromatin organization involved in chromatin silencing|
|Barr body|
|heterochromatin assembly|
|positive regulation of double-strand break repair via nonhomologous end joining|
|nose development|
|dosage compensation by inactivation of X chromosome|
|heterochromatin organization|
|dosage compensation|
|negative regulation of double-strand break repair via homologous recombination|
|regulation of double-strand break repair via nonhomologous end joining|
|negative regulation of double-strand break repair|
|positive regulation of double-strand break repair|
|negative regulation of DNA repair|
|negative regulation of DNA recombination|
|regulation of double-strand break repair via homologous recombination|
|site of double-strand break|
|chromatin organization involved in negative regulation of transcription|
|chromatin silencing|
|positive regulation of DNA repair|
|chromatin organization involved in regulation of transcription|
|regulation of double-strand break repair|
|negative regulation of response to DNA damage stimulus|
|negative regulation of gene expression, epigenetic|
|positive regulation of response to DNA damage stimulus|
|regulation of DNA recombination|
|nuclear chromosome, telomeric region|
|negative regulation of DNA metabolic process|
|regulation of DNA repair|
|chromatin assembly|
|gene silencing|
|chromatin assembly or disassembly|
|chromatin remodeling|
|DNA packaging|
|double-strand break repair|
|positive regulation of DNA metabolic process|
|respiratory system development|
|regulation of response to DNA damage stimulus|
|ATPase activity|
|regulation of gene expression, epigenetic|
|DNA conformation change|
|regulation of DNA metabolic process|
|DNA repair|
|sensory organ development|
|chromatin organization|
|regulation of cellular response to stress|
|DNA metabolic process|
|cellular response to DNA damage stimulus|
|protein homodimerization activity|
|chromosome organization|
|negative regulation of transcription, DNA-templated|
|negative regulation of nucleic acid-templated transcription|
|negative regulation of RNA biosynthetic process|
|negative regulation of RNA metabolic process|
|negative regulation of cellular macromolecule biosynthetic process|
|negative regulation of nucleobase-containing compound metabolic process|
|DNA binding|
|negative regulation of macromolecule biosynthetic process|
|regulation of response to stress|
|ATP binding|
|negative regulation of cellular biosynthetic process|
|negative regulation of biosynthetic process|
|negative regulation of response to stimulus|
|cellular response to stress|
|negative regulation of gene expression|
|positive regulation of nucleobase-containing compound metabolic 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:exp360|Genistein 15μM R07 exp360]]|-2.26|
|[[:results:exp287|HMS-I2 5μM R06 exp287]]|-2.11|
|[[:results:exp418|Tunicamycin 0.04μM R07 exp418]]|-2.09|
|[[:results:exp357|Dorsomorphin 5μM R07 exp357]]|-1.98|
|[[:results:exp282|Fluvastatin 2.2μM R06 exp282]]|-1.72|
|[[:results:exp468|CB-5083 0.4μM R08 exp468]]|1.98|
</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: 5/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|1/28|
|blood|1/28|
|bone|0/26|
|breast|0/33|
|central nervous system|1/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|1/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|1/15|
|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>**: 12183
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 8.02 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='SMCHD1 Expression in NALM6 Cells: 8.02'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>