Table 2

CIS identified in the BCP-ALL samples whose homologous human chromosomal location was found to be a recurrent region of copy number (CN) change in human ETV6-RUNX1 leukemias

Mouse CIS (no. insertions)Homologous human region (chromosome: bp)No. patientsCN changes in patient samplesCN lesion size (Mb): mean ± SD (median)
Fam46d (4) X: 79589304–79616318 10 1.4, 1.34, 1.36, 1.28, 1.53, 1.11, 1, 2.99, 0.85, 1.23 124 ± 43 (150) 
Gata1 (2) X: 48645231–48659263 2.47, 1.34, 1.36, 1.28, 1.11, 1, 2.99, 0.85, 1.23 132 ± 34 (151) 
L3mbtl3 (3) 6: 130336865–130339827 0.88, 1.28, 0.84, 1.55, 3.17 110 ± 57 (87) 
CIS7:37320759 (12) 19: 31962394–32030766 1.68, 1.65, 1.06 23 ± 29 (7) 
Cebpa (8) 19: 33765960–33835715 1.68, 1.65, 1.06 23 ± 29 (7) 
Gm1968 (5) 3: 193728382–193781161 0.98, 0.94, 1.59 37 ± 42 (20) 
Psd3 (5) 8: 18414769–18459953 1.16, 0.93, 2.6 58 ± 37 (37) 
Mouse CIS (no. insertions)Homologous human region (chromosome: bp)No. patientsCN changes in patient samplesCN lesion size (Mb): mean ± SD (median)
Fam46d (4) X: 79589304–79616318 10 1.4, 1.34, 1.36, 1.28, 1.53, 1.11, 1, 2.99, 0.85, 1.23 124 ± 43 (150) 
Gata1 (2) X: 48645231–48659263 2.47, 1.34, 1.36, 1.28, 1.11, 1, 2.99, 0.85, 1.23 132 ± 34 (151) 
L3mbtl3 (3) 6: 130336865–130339827 0.88, 1.28, 0.84, 1.55, 3.17 110 ± 57 (87) 
CIS7:37320759 (12) 19: 31962394–32030766 1.68, 1.65, 1.06 23 ± 29 (7) 
Cebpa (8) 19: 33765960–33835715 1.68, 1.65, 1.06 23 ± 29 (7) 
Gm1968 (5) 3: 193728382–193781161 0.98, 0.94, 1.59 37 ± 42 (20) 
Psd3 (5) 8: 18414769–18459953 1.16, 0.93, 2.6 58 ± 37 (37) 

In total, 50 ETV6-RUNX1 patient samples were analyzed by single-nucleotide polymorphism array, and the CN changes for the relevant lesions shown. Deletions correspond to CN < 2 and amplifications to CN > 2. The LiftOver tool (http://genome.ucsc.edu/cgi-bin/hgLiftOver) was used to find the associated human chromosomal region for each mouse CIS gene (using the GRCh37/hg19 assembly). Statistical significance for each CIS was calculated (using 1000 randomly selected Refseq genes) and a cut-off of P < 0.2 was used.

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