Gene Detail

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Gene Symbol ATRX
Synonyms JMS | MRX52 | RAD54 | RAD54L | XH2 | XNP | ZNF-HX
Gene Description ATRX, ATRX chromatin remodeler, is in the SWI/SNF family of chromatin remodeling proteins and plays a role in DNA repair and telomere length (PMID: 36894374). ATRX loss and mutations have been identified in a high percentage of tumor types including glioma (PMID: 23249563; PMID: 26936505, PMID: 31908895) and copy number loss has also been observed in pancreatic neuroendocrine tumors (PMID: 30081149) and ovarian ependymomas (PMID: 29944970).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
546 X Xq21.1 NM_000489 Tumor suppressor (PMID: 30606230)

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A535fs frameshift loss of function - predicted ATRX A535fs results in a change in the amino acid sequence of the Atrx protein beginning at aa 535 of 2492, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), A535fs is predicted to lead to a loss of Atrx protein function.
D774fs frameshift loss of function - predicted ATRX D774fs results in a change in the amino acid sequence of the Atrx protein beginning at aa 774 of 2492, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), D774fs is predicted to lead to a loss of Atrx protein function.
E1010fs frameshift loss of function - predicted ATRX E1010fs results in a change in the amino acid sequence of the Atrx protein beginning at aa 1010 of 2492, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), E1010fs is predicted to lead to a loss of Atrx protein function.
E991fs frameshift loss of function - predicted ATRX E991fs results in a change in the amino acid sequence of the Atrx protein beginning at aa 991 of 2492, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), E991fs is predicted to lead to a loss of Atrx protein function.
fusion fusion unknown ATRX fusion indicates a fusion of the ATRX gene, but the fusion partner is unknown.
inact mut unknown loss of function ATRX inact mut indicates that this variant results in a loss of function of the Atrx protein. However, the specific amino acid change has not been identified.
K1001fs frameshift loss of function - predicted ATRX K1001fs results in a change in the amino acid sequence of the Atrx protein beginning at aa 1001 of 2492, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), K1001fs is predicted to lead to a loss of Atrx protein function.
K1931fs frameshift loss of function - predicted ATRX K1931fs results in a change in the amino acid sequence of the Atrx protein beginning at aa 1931 of 2492, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the helicase C-terminal domain (UniProt.org), K1931fs is predicted to lead to a loss of Atrx protein function.
K425fs frameshift loss of function - predicted ATRX K425fs results in a change in the amino acid sequence of the Atrx protein beginning at aa 425 of 2492, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), K425fs is predicted to lead to a loss of Atrx protein function.
L639fs frameshift loss of function - predicted ATRX L639fs results in a change in the amino acid sequence of the Atrx protein beginning at aa 639 of 2492, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), L639fs is predicted to lead to a loss of Atrx protein function.
M1800fs frameshift loss of function - predicted ATRX M1800fs results in a change in the amino acid sequence of the Atrx protein beginning at aa 1800 of 2492, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the C-terminal helicase domain (UniProt.org), M1800fs is predicted to lead to a loss of Atrx protein function.
mutant unknown unknown ATRX mutant indicates an unspecified mutation in the ATRX gene.
R1302fs frameshift loss of function - predicted ATRX R1302fs results in a change in the amino acid sequence of the Atrx protein beginning at aa 1302 of 2492, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of helicase domains (UniProt.org), R1302fs is predicted to lead to a loss of Atrx protein function.
R840fs frameshift loss of function - predicted ATRX R840fs results in a change in the amino acid sequence of the Atrx protein beginning at aa 840 of 2492, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), R840fs is predicted to lead to a loss of Atrx protein function.
T1582fs frameshift loss of function - predicted ATRX T1582fs results in a change in the amino acid sequence of the Atrx protein beginning at aa 1582 of 2492, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of helicase domains (UniProt.org), T1582fs is predicted to lead to a loss of Atrx protein function.