======= FRG1 =======
== Gene Information ==
* **Official Symbol**: FRG1
* **Official Name**: FSHD region gene 1
* **Aliases and Previous Symbols**: N/A
* **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=2483|2483]]
* **UniProt**: [[https://www.uniprot.org/uniprot/Q14331|Q14331]]
* **Interactions**: [[https://thebiogrid.org/search.php?search=FRG1&organism=9606|BioGRID]]
* **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20FRG1|Open PubMed]]
* **OMIM**: [[https://omim.org/entry/601278|Open OMIM]]
== Function Summary ==
* **Entrez Summary**: This gene maps to a location 100 kb centromeric of the repeat units on chromosome 4q35 which are deleted in facioscapulohumeral muscular dystrophy (FSHD). It is evolutionarily conserved and has related sequences on multiple human chromosomes but DNA sequence analysis did not reveal any homology to known genes. In vivo studies demonstrate the encoded protein is localized to the nucleolus. [provided by RefSeq, Jul 2008].
* **UniProt Summary**: Binds to mRNA in a sequence-independent manner. May play a role in regulation of pre-mRNA splicing or in the assembly of rRNA into ribosomal subunits. May be involved in mRNA transport. May be involved in epigenetic regulation of muscle differentiation through regulation of activity of the histone-lysine N- methyltransferase KMT5B. {ECO:0000269|PubMed:11991638, ECO:0000269|PubMed:15060122, ECO:0000269|PubMed:20970242, ECO:0000269|PubMed:21699900, ECO:0000269|PubMed:23720823}.
|FRG1|
|Fascin|
|striated muscle dense body|
|Cajal body|
|catalytic step 2 spliceosome|
|Z disc|
|actin filament binding|
|rRNA processing|
|rRNA metabolic process|
|muscle organ development|
|mRNA splicing, via spliceosome|
|RNA splicing, via transesterification reactions with bulged adenosine as nucleophile|
|ribosome biogenesis|
|RNA splicing, via transesterification reactions|
|ncRNA processing|
|RNA splicing|
|ribonucleoprotein complex biogenesis|
|ncRNA metabolic process|
|muscle structure development|
|mRNA processing|
|mRNA metabolic process|
|nucleolus|
|RNA processing|
|RNA binding|
|RNA metabolic process|
|gene expression|
\\
=== CRISPR Data ===
^Screen^Score^
|[[:results:exp512|Olaparib 4μM R08 exp512]]|-1.88|
|[[:results:exp416|Tubacin 1.6μM R07 exp416]]|-1.79|
|[[:results:exp360|Genistein 15μM R07 exp360]]|-1.74|
^Gene^Correlation^
|[[:human genes:b:bcl2l1|BCL2L1]]|0.473|
Global Fraction of Cell Lines Where Essential: 3/739
^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|
== Essentiality in NALM6 ==
* **Essentiality Rank**: 2081
* **Expression level (log2 read counts)**: 5.36
{{:chemogenomics:nalm6 dist.png?nolink |}}