chromosomal translocation t(6;8)(p21.3-22;q13)

Chromosomal translocation t(6;8)(p21.3-22;q13) involving PLAG1 with CHCHD7. Fusion occurs in the 5' regulatory regions, leading to promoter swapping & up-regulation of PLAG1 expression

Properties

GENERAL: chromosomal translocation FORM: t(6;8)(p21.3-22;q13) LOCUS: human chromosome-6 Q11.3 human chromosome-8 Q12 ABERRANT-GENE: zinc finger protein PLAG1 COMPARTMENT: cell nucleus MOTIF: KPNA2 interaction {2-84} MOTIF: nuclear translocation signal {22-25} Zn finger C2H2-type SITE: 34-56 EFFECTOR-BOUND: Zn+2 zinc fingers {41-242} MOTIF: Zn finger C2H2-type SITE: 62-86 EFFECTOR-BOUND: Zn+2 Zn finger C2H2-type SITE: 92-114 EFFECTOR-BOUND: Zn+2 Zn finger C2H2-type SITE: 121-143 EFFECTOR-BOUND: Zn+2 Zn finger C2H2-type SITE: 150-172 EFFECTOR-BOUND: Zn+2 Zn finger C2H2-type SITE: 185-207 EFFECTOR-BOUND: Zn+2 Zn finger C2H2-type SITE: 213-236 EFFECTOR-BOUND: Zn+2 transcriptional activation {243-500} MOTIF: 3 sumoylation motifs {243-384} Massive activation {385-500} LIF binding protein MOTIF: signal sequence {1-44} fibronectin type III domain or F3 module {46-131} MOTIF: cysteine residue {C55} MODIFICATION: cysteine residue {C65} N-glycosylation site {N64} cysteine residue {C65} MODIFICATION: cysteine residue {C55} cysteine residue {C82} MODIFICATION: cysteine residue {C90} N-glycosylation site {N85} cysteine residue {C90} MODIFICATION: cysteine residue {C82} N-glycosylation site {N131} N-glycosylation site {N143} N-glycosylation site {N191} cysteine residue {C213} MODIFICATION: cysteine residue {C270} N-glycosylation site {N243} cysteine residue {C270} MODIFICATION: cysteine residue {C213} N-glycosylation site {N303} fibronectin type III domain or F3 module {332-428} MOTIF: cysteine residue {C341} MODIFICATION: cysteine residue {C351} cysteine residue {C351} MODIFICATION: cysteine residue {C341} N-glycosylation site {N390} N-glycosylation site {N407} N-glycosylation site {N426} fibronectin type III domain or F3 module {433-530} MOTIF: N-glycosylation site {N445} cysteine residue {C466} MODIFICATION: cysteine residue {C511} N-glycosylation site {N481} N-glycosylation site {N489} cysteine residue {C511} MODIFICATION: cysteine residue {C466} WSXWS motif {519-523} fibronectin type III domain or F3 module {535-625} MOTIF: N-glycosylation site {N572} fibronectin type III domain or F3 module {627-719} MOTIF: N-glycosylation site {N652} N-glycosylation site {N663} N-glycosylation site {N680} fibronectin type III domain or F3 module {724-829} MOTIF: N-glycosylation site {N729} N-glycosylation site {N787} transmembrane domain {834-858} box1 motif SITE: 869-877 FOR-BINDING-OF: Janus kinase (JAK) Ser phosphorylation site {S927}

References

UniProt :accession Q6DJT9