PAX5 (paired box gene 5)

9p13.2

10 exons, alternatively spliced transcript variants encoding different isoforms.

PAX5 is a transcription factor harboring a conserved paired box DNA-binding domain. It is a master regulator of B-cell commitment and maintenance and within the hematopoietic system is expressed in B-cells from the pro-B cell to the mature B-cell stage and repressed upon plasma cell differentiation (Cobaleda et al., 2007; Medvedovic et al., 2011). In BCP-ALL PAX5 is a frequent target of somatic mutations, comprising deletions, point mutations, and structural rearrangements resulting in the expression of fusion transcripts (Mullighan et al., 2007). To date, 16 different in-frame PAX5 fusions genes have been reported in B-ALL (Cazzaniga et al., 2001; Bousquet et al., 2007; Mullighan et al., 2007; Nebral et al., 2007; Kawamata et al., 2008; Nebral et al., 2009; Coyaud et al., 2010b; Lee et al., 2012). The PAX5 fusion partners comprise a heterogeneous group of genes that encode transcription factors, structural proteins, kinases, as well as several genes with so far unknown functions.

AUTS2 (autism susceptibility candidate 2)

7q11.22

19 exons, alternatively spliced transcript variants encoding different isoforms.

AUTS2, is a highly conserved nuclear protein with so far unknown function, contains several putative N-terminal nuclear localization signals (NLS), two proline alternating with two histidine-rich regions, and two potential serine phosphorylation sites. It is strongly expressed in fetal and adult brain, particularly in the frontal, parietal, and temporal lobes. Mutations in the gene have been associated with autism and mental retardation (Oksenberg and Ahituv, 2013).