20q11.2

Expression level according to Entrez (https://www.ncbi.nlm.nih.gov/gene/140688) and The Human Protein Atlas (http://www.proteinatlas.org/ENSG00000197183-NOL4L/pathology):
High expression of NOL4L is an unfavourable prognostic factor in endometrial cancer.
- fusion 20q11-20q11 NOL4L/ COMMD7 in breast adenocarcinoma (Yoshihara et al. 2015).
Expression level of NOL4L has no prognostic significance in: Glioma, Thyroid cancer, Lung cancer, Liver cancer, Pancreatic cancer, Head and neck cancer, Stomach cancer, Colorectal cancer, Renal cancer, Prostate cancer, Testis cancer, Breast cancer, Cervical cancer, Ovarian cancer, Melanoma .
Main translocations: (detailed herein below)
- t(20;21)(q11;q22) RUNX1/NOL4L.
Other fusion transcripts: (data extracted from the Atlas http://atlasgeneticsoncology.org//Bands/20q11.html)
- fusion/translocation t(7;20)(p22;q11) ACTB/NOL4L in triple-negative (TN) adenocarcinoma. The triple-negative breast cancer subtype is the most aggressive form of invasive breast adenocarcinoma (Asmann et al. 2012).
- fusion/translocation t(17;20)(q22;q11) MMD/NOL4L in breast adenocarcinoma (Yoshihara et al. 2015).
- fusion 20q11-20q11 NOL4L/ EFCAB8 in malignant melanoma of the skin (Hu et al., 2018).
- fusion 20q11-20q11 PDRG1/NOL4L in malignant epithelial tumor of the uterus corpus (Hu et al., 2018).

Pediatric acute lymphoblastic leukemia (ALL)

5 cases of dic(9;20) (p13;q11) PAX5/NOL4L available to date (Nebral et al., 2007; An et al., 2008; Kawamata et al., 2008; Kawamata et al. 2012).

In one case, exon 5 of PAX5 was fused to exon 8 of NOL4L, and in four cases, exon 8 of PAX5 was fused to exon 3 of NOL4L, producing two proteins, a short (PAX5/C20ORF112S) and long (PAX5/C20ORF112L) form, localizing in the nucleus, and/or in the cytoplasm and the nucleus (Kawamata et al., 2008).

Four downstream target genes of PAX5 ( ATP1B1, BLK, SEPT2 and TCF7L2) were down-regulated by induction of PAX5/NOL4L. Loss of the C-terminal end of PAX5 may play role in generation of a dominant negative form of mutated PAX5 (Kawamata et al., 2008).

Acute myeloid leukemia (AML)

A 62-year-old man was diagnosed with AML with maturation (M2- AML), and presented with a t(20;21)(q11.2;q22.1) RUNX1/NOL4L accompanied with monosomy 7 (Guastadisegni et al. 2010).

RUNX1 exon 6 was fused to NOL4L exon 8.

Wild-type NOL4L was expressed at low levels in AML and normal bone marrow, whereas the RUNX1/NOL4L was expressed at high levels (Guastadisegni et al. 2010).