What does SMARCB1 stand for?
SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) is a Protein Coding gene. Diseases associated with SMARCB1 include Coffin-Siris Syndrome 3 and Rhabdoid Tumor Predisposition Syndrome 1.
What is the ARID1A gene?
The ARID1A gene provides instructions for making a protein that forms one piece (subunit) of several different SWI/SNF protein complexes. SWI/SNF complexes regulate gene activity (expression) by a process known as chromatin remodeling. Chromatin is the network of DNA and protein that packages DNA into chromosomes.
What is ARID1A mutation?
ARID1A is a subunit of the Switch/Sucrose Non-Fermentable (SWI/SNF) chromatin-remodeling complex that regulates gene expression by controlling gene accessibility. ARID1A shows one of the highest mutation rates across different human cancer types.
What is Coffin-Siris syndrome?
Coffin-Siris syndrome (CSS) is a rare genetic disorder that may be evident at birth (congenital). The disorder may be characterized by abnormalities of the head and facial (craniofacial) area, resulting in a coarse facial appearance.
Where is the SMARCB1 gene?
SMARCB1 is the core subunit of the SWI/sucrose non-fermenting ATP-dependent chromatin remodelling complex located on the long arm of chromosome 22 (22q11.
What is SMARCB1 mutation?
Mutations in the SMARCB1 gene are involved in several human tumor-predisposing syndromes. They were established as an underlying cause of the tumor suppressor syndrome schwannomatosis in 2008. There is a much higher rate of mutation detection in familial disease than in sporadic disease.
Where is ARID1A gene located?
|OMIM: 603024 MGI: 1935147 HomoloGene: 21216 GeneCards: ARID1A
|Gene location (Human) Chr. Chromosome 1 (human) Band 1p36.11 Start 26,693,236 bp End 26,782,104 bp
|Gene location (Mouse) Chr. Chromosome 4 (mouse) Band 4|4 D2.3 Start 133,679,008 bp End 133,756,769 bp
What is PIK3CA gene?
A gene that makes one of the proteins in an enzyme called PI3K, which is involved in many important functions in a cell. Mutations (changes) in the PIK3CA gene may cause the PI3K enzyme to become overactive, which may cause cancer cells to grow.
What does BRAF stand for?
BRAF is a human gene that encodes a protein called B-Raf. The gene is also referred to as proto-oncogene B-Raf and v-Raf murine sarcoma viral oncogene homolog B, while the protein is more formally known as serine/threonine-protein kinase B-Raf.
How many people have ARID1B?
To date, approximately 100 individuals who do not have the classic Coffin-Siris syndrome phenotype have been identified with a heterozygous pathogenic variant in ARID1B [Santen et al 2013, Santen et al 2014, Ben-Salem et al 2016, Mannino et al 2018, van der Sluijs et al 2019].
What is Floating Harbor Syndrome?
Floating-Harbor syndrome (FHS) is an extremely rare genetic disorder characterized by a distinctive facial appearance, various skeletal malformations, delayed bone age, and expressive and receptive language delays. Children may be below average height for their age (short stature).
How common is schwannomatosis?
Schwannomatosis is a rare form of neurofibromatosis (NF) that causes multiple nerve sheath tumors called schwannomas. Schwannomatosis affects about one in 40,000 people. It is diagnosed most often in people over age 30.