Gene Detail

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Gene Symbol ABL1
Synonyms ABL | BCR-ABL | bcr/abl | c-ABL | c-ABL1 | CHDSKM | JTK7 | p150 | v-abl
Gene Description ABL1, ABL proto-oncogene 1, non-receptor tyrosine kinase, plays a role in regulation of cell growth through ERK5, Rac/JNK, and Stat1/3 pathways (PMID: 10373409). Fusion proteins of BCR-ABL1 resulting in constitutive kinase activity have been reported in various cancers (PMID: 18851712, PMID: 30125955) and a number of Abl1 mutations in the context of BCR-ABL1 have been demonstrated to confer drug resistance (PMID: 24456693).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
25 9 9q34.12 NM_005157 Oncogene (PMID: 30606230)

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
act mut unknown gain of function ABL1 act mut indicates that this variant results in a gain of function in the Abl1 protein. However, the specific amino acid change has not been identified.
fusion fusion unknown ABL1 fusion indicates a fusion of the ABL1 gene, but the fusion partner is unknown.
inact mut unknown loss of function ABL1 inact mut indicates that this variant results in a loss of function of the Abl1 protein. However, the specific amino acid change has not been identified.
mutant unknown unknown ABL1 mutant indicates an unspecified mutation in the ABL1 gene.
P309fs frameshift loss of function - predicted ABL1 P309fs results in a change in the amino acid sequence of the Abl1 protein beginning at aa 309 of 1130, likely resulting in premature truncation of the functional protein (UniProt.org). Due the loss of multiple functional domains, including the DNA-binding domain (UniProt.org), P309fs is predicted to lead to a loss of Abl1 protein function.
R362fs frameshift loss of function - predicted ABL1 R362fs results in a change in the amino acid sequence of the Abl1 protein beginning at aa 362 of 1130, likely resulting in premature truncation of the functional protein (UniProt.org). Due the loss of multiple functional domains, including the DNA-binding domain (UniProt.org), R362fs is predicted to lead to a loss of Abl1 protein function.
rearrange unknown unknown ABL1 rearrangement indicates an unspecified rearrangement of the ABL1 gene.