Gene Detail

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Gene Symbol ARID1A
Synonyms B120 | BAF250 | BAF250a | BM029 | C1orf4 | CSS2 | ELD | hELD | hOSA1 | MRD14 | OSA1 | P270 | SMARCF1
Gene Description ARID1A, AT-rich interaction domain 1A, is a member of the cBaF subunit (PMID: 32303701) of the SWI/SNF chromatin remodeling complex and is involved in cell-cycle activation (PMID: 29136504). ARID1A has been reported to influence PI3K/AKT pathways (PMID: 24618703), and loss of function is commonly found in ovarian clear cell carcinoma (PMID: 32020380, PMID: 32027624), gastric, colorectal (PMID: 28937020), and bladder cancers (PMID: 28583311), while in liver cancer, Arida1a has a context dependent role (PMID: 29136504) and ARID1A promoter hypermethylation has been observed in squamous cell carcinoma (PMID: 32015157).

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
inact mut unknown loss of function ARID1A inact mut indicates that this variant results in a loss of function of the Arid1a protein. However, the specific amino acid change has not been identified.
mutant unknown unknown ARID1A mutant indicates an unspecified mutation in the ARID1A gene.
D1850fs frameshift loss of function - predicted ARID1A D1850fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 1850 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). D1850fs has not been characterized, however, due to the effects of truncation mutations downstream of D1850 (PMID: 29736026), D1850fs is predicted to lead to a loss of Arid1a protein function.
G1351fs frameshift loss of function - predicted ARID1A G1351fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 1351 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). G1351fs has not been characterized, however, due to the effects of truncation mutations downstream of G1351 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
G1450fs frameshift loss of function - predicted ARID1A G1450fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 1450 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). G1450fs has not been characterized, however, due to the effects of truncation mutations downstream of G1450 (PMID: 26069190, PMID: 29736026), G1450fs is predicted to lead to a loss of Arid1a protein function.
G1848fs frameshift loss of function - predicted ARID1A G1848fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 1848 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). G1848fs is associated with loss of Arid1a protein expression in a cell line in culture (PMID: 27486766), and due to the effects of other truncation mutations downstream of G1848 (PMID: 29736026), G1848fs is predicted to lead to a loss of Arid1a protein function.
G283fs frameshift loss of function - predicted ARID1A G283fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 283 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), G283fs is predicted to lead to a loss of Arid1a protein function.
G319fs frameshift loss of function - predicted ARID1A G319fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 319 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the GR binding domain (PMID: 23208470), G319fs is predicted to lead to a loss of Arid1a protein function.
H203fs frameshift loss of function - predicted ARID1A H203fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 203 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), H203fs is predicted to lead to a loss of Arid1a protein function.
K1071fs frameshift loss of function - predicted ARID1A K1071fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 1071 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). K1071fs has not been characterized, however, due to the effects of truncation mutations downstream of K1071 (PMID: 26069190, PMID: 29736026), K1071fs is predicted to lead to a loss of Arid1a protein function.
M1318fs frameshift loss of function - predicted ARID1A M1318fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 1318 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). M1318fs has not been characterized, however, due to the effects of truncation mutations downstream of M1318 (PMID: 26069190, PMID: 29736026), M1318fs is predicted to lead to a loss of Arid1a protein function.
P224fs frameshift loss of function - predicted ARID1A P224fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 224 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), P224fs is predicted to lead to a loss of Arid1a protein function.
P725fs frameshift loss of function - predicted ARID1A P725fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 725 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). P725fs has not been characterized, however, due to the effects of truncation mutations downstream of P725 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
Q1327fs frameshift loss of function - predicted ARID1A Q1327fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 1327 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). Q1327fs has not been characterized, however, due to the effects of truncation mutations downstream of Q1327 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
Q1342fs frameshift loss of function - predicted ARID1A Q1342fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 1342 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the GR binding domain (PMID: 23208470), Q1342fs is predicted to lead to a loss of Arid1a protein function.
Q1519fs frameshift loss of function - predicted ARID1A Q1519fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 1519 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). Q1519fs has not been characterized, however, because other truncation mutations downstream of Q1519 are inactivating (PMID: 26069190), Q1519fs is predicted to lead to a loss of Arid1a protein function.
Q199fs frameshift loss of function - predicted ARID1A Q199fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 199 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). Q199fs has not been characterized, however, due to the effects of other truncations downstream of Q199 (PMID: 26069190, PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
Q393fs frameshift loss of function - predicted ARID1A Q393fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 393 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), Q393fs is predicted to lead to a loss of Arid1a protein function.
R1721fs frameshift loss of function - predicted ARID1A R1721fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 1721 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). R1721fs has not been characterized, however, due to the effects of truncation mutations downstream of R1721 (PMID: 26069190, PMID: 29736026), R1721fs is predicted to lead to a loss of Arid1a protein function.
R2158fs frameshift unknown ARID1A R2158fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 2158 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). R2158fs has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2020).
R727fs frameshift loss of function - predicted ARID1A R727fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 727 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), R727fs is predicted to lead to a loss of Arid1a protein function.
S11fs frameshift loss of function - predicted ARID1A S11fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 11 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), S11fs is predicted to lead to a loss of Arid1a protein function.
S674fs frameshift loss of function - predicted ARID1A S674fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 674 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), S674fs is predicted to lead to a loss of Arid1a protein function.
S705fs frameshift loss of function - predicted ARID1A S705fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 705 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the GR binding domain (PMID: 23208470), S705fs is predicted to lead to a loss of Arid1a protein function.
V1561fs frameshift loss of function - predicted ARID1A V1561fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 1561 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). V1561fs has not been characterized, however, due to the effects of truncation mutations downstream of V1561 (PMID: 26069190, PMID: 29736026), V1561fs is predicted to lead to a loss of Arid1a protein function.
Y2076fs frameshift unknown ARID1A Y2076fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 2076 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). Y2076fs has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Jun 2020).
Y2254fs frameshift unknown ARID1A Y2254fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 2254 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). Y2254fs has been identified in sequencing studies (PMID: 22653804), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Mar 2020).