Table 3.
The 10 genes associated with CNVs unique to polyposis patients (identified as FAP11-16). Note the disrupted gene (its symbol and description), if the gene is expressed in the colon (www.proteinatlas.org), the CN type observed in the current dataset and a general column outlining the predicted interpretation of the effect different types of CNVs have on disease development.
| Gene | Description | Expression in colon | CN type | Region of gene disputed | Interpretation (predicted) |
|---|---|---|---|---|---|
| EVI2B | ecotropic viral integration site 2B | medium | Gains | FAP11: whole gene | Whole gene duplication:increased expression/amplification of gene function. |
| FAP12: part gene | |||||
| EVI2A | ecotropic viral integration site 2A | medium | Gains | FAP11: whole gene | |
| FAP12: whole gene | |||||
| SMAP2 | small ArfGAP2 | medium | Gains | FAP12: part gene, exon and intron 1 | Partial duplication or deletion involving introns and exons:disruption of gene/loss of gene function. |
| FAP13: part gene , exon and intron 1 | |||||
| BOD1L | biorientation of chromosomes in cell division 1-like 1 | medium | Gains | FAP12: part gene, introns and exons | |
| FAP11: part gene, introns and exons | |||||
| NAMPT | nicotinamide phosphoribosyltransferase | medium | Gains | FAP12: part gene, most of it from start of gene | Partial duplication involving promoter:transcription of aberrant transcript leading to non-functional protein product/loss of gene function. |
| FAP13: whole gene | |||||
| NF1 | neurofibromin 1 | medium | Gains | FAP11: part gene, intronic | |
| FAP12: part gene, intronic | |||||
| HSD11B1 | hydroxysteroid (11-beta) dehydrogenase 1 | low | Gains | FAP12: part gene, upstream into exon 1 | Partial duplication involving exons:possible addition of duplicated exons into gene transcript creating a non-functional protein product/loss of gene function. |
| FAP11: part gene, upstream into exon 1 | |||||
| G0S2 | G0/G1 switch 2 | medium | Gains | FAP12: whole gene | |
| FAP11: whole gene | |||||
| DOCK4 | dedicator of cytokinesis 4 | low | Both | FAP11: part gene dup, intronic | Partial duplication or deletion involving introns:development of cryptic splice sites or the formation of pseudo exons leading to disruption in gene expression/loss of gene function. |
| FAP4: part gene del, intronic | |||||
| A2BP1 | RNA binding protein, fox-1 homolog (C. elegans) 1 (alias RBFOX1) | low | Both | FAP15: part gene dup, introns and exon | |
| FAP16: part gene del, introns and exons |