chromosomal translocation t(4;12)(q12;p13) (acute myeloid leukemia)

- chromosomal translocation t(4;12)(q12;p13) involving CHIC2 with ETV6 is found in a form of acute myeloid leukemia (AML)

Properties

GENERAL: chromosomal translocation RELATED: acute myeloid leukemia (AML) FORM: t(4;12)(q12;p13) LOCUS: human chromosome-4 Q12 human chromosome-12 Q13 PATHOLOGY: acute myeloid leukemia (AML) ABERRANT-GENE: cysteine-rich hydrophobic domain 2 protein COMPARTMENT: cytoplasm golgi MOTIF: coiled coil {1-26} MOTIF: glutamate-rich region {9-15} MOTIF: glutamate residue (SEVERAL) cysteine-rich region {88-106} Breakpoint {111-112} tel proto-oncogene protein COMPARTMENT: cell nucleus MOTIF: breakpoint {11-12} Ser phosphorylation site {S22} PNT {38-124} MOTIF: breakpoint {54-55} breakpoint {55-56} Ser phosphorylation site {S257} breakpoint {336-337} ETS domain NAME: ETS domain SITE: 339-420

References

UniProt :accession Q9UKJ5