Table 1.
Examples of genes/gene families mapped to core duplicons.
| clade | gene | significant expression | subcellular localization | Description | possible function | example disease-associated genomic hotspot |
|---|---|---|---|---|---|---|
| chr1 | NBPF | soft tissue | cytoplasm | neuroblastoma breakpoint gene family, DUF1220 | transcription factor regulated by NF-κB | 1q21.1: Neuroblastoma, ASD, ID, Schizophrenia |
| chr2 | RANBP2 | testis | nuclear pore | RANBP2-like and GRIP domain- containing 5 isoform | Ran GTPase binding | 2q13: ID |
| chr7_2 | PMS2L5 | ubiquitous | nuclear | postmeiotic segregation increased 2-like 5 | DNA mismatch repair | 7q11.23: Williams-Beuren syndrome, ASD, ID |
| chr7_2 | SPDYE1 | testis | unknown | speedy/RINGO cell cycle regulator family member E1 | cell cycle regulator | 7q11.23: Williams-Beuren syndrome, ASD, ID |
| chr7_3 | DPY19L2 | testis | unknown | dpy-19 like 2 | spermatogenesis | none |
| chr9_1 | SPATA31A1 | exclusively in testis | unknown | SPATA31 subfamily A, member 1 | unknown | none |
| chr9_2 | ZNF790 | ubiquitous | nuclear | zinc-finger protein 790 | DNA binding | none |
| chr11/chr2 | TRIM51 | mammary gland | unknown | tripartite motif-containing 51 | unknown | 2q11.2: ID, ADHD |
| chr15 | GOLGA | exclusively in testis | unknown | golgin-like protein, golgi autoantigen, golgin subfamily a | DNA binding | 15q13.3: ASD, ID, Schizophrenia, Epilepsy |
| chr16 | NPIP | ubiquitous | nuclear membrane | nuclear pore complex interacting protein, morpheus gene family | unknown | 16p11.2: ASD, ID, Schizophrenia, Epilepsy |
| chr17_1 | LRRC37A | ubiquitous | unknown | leucine-rich repeat, c114 SLIT-like testicular protein | ATP-dependent peptidase activity | 17q21.31: ID |
| chr17_2 | TBC1D3 | testis | cytoplasm | TBC1 domain family member | cell growth and proliferation | 17q12: ASD, ID, Schizophrenia |
| M1 | OR7E | unknown | unknown | olfactory receptor 7E pseudogenes | receptors mediating sense of smell | 8p23.1: ID |
| M5 | SMA | spinal cord | lysosome | spinal muscular atrophy associated gene | hydrolase activity | 5q13.2: Spinal Muscular Atrophy |
| M6 | CCDC127 | ubiquitous | unknown | coiled-coiled domain containing 27 | unknown | none |
ASD: autism spectrum disorder; ID: intellectual disability and associated developmental delay, ADHD: attention-deficit and hyperactivity disorder. Adapted from [11].