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Table 3 Genes identified in the common and rare analyses

From: Associations of single nucleotide polymorphisms with mucinous colorectal cancer: genome-wide common variant and gene-based rare variant analyses

Gene symbola Gene nameb Function
SLC22A16 solute carrier family 22 member 16 codes for a human ʟ-carnitine transporter protein hCT2. hCT2 has been shown to have undetectable expression in a colon cancer cell line. [63, 64]
CCDC141 coiled-coil domain containing 141 codes for a protein that plays a critical role in centrosome positioning and movement, particularly radial migration. Centrosome aberrations have been shown to be present in early-stage colorectal cancers and could contribute to chromosomal instability. [65, 66]
SLC35F1 solute carrier family 35 member F1 codes for a member of the solute carrier family 35, a family of nucleotide sugar transporters. [67]
ZBTB20 zinc finger and BTB domain containing 20 codes for a transcriptional repressor. Upregulation of ZBTB20 has been shown to promote cell proliferation in non-small cell lung cancer and is a potential druggable target for the disease. Similarly, overexpression of ZBTB20 has been associated with poor prognosis in patients with hepatocellular carcinoma. [68,69,70]
RASGRF2 Ras protein specific guanine nucleotide releasing factor 2 codes for a signalling molecule. RasGRF2 contains regulatory domains for both Ras and Rho GTPases, suggesting it can influence both pathways. The Rho pathway has been thought to be involved in cell migration, while the Ras pathway has been thought to be involved in cell proliferation and survival, which are all processes related to cancer. [71, 72]
SEC24B SEC24 homolog B, COPII coat complex component codes for a protein that is a part of the COPII vesicle coat, facilitating molecular transport from the endoplasmic reticulum to the Golgi apparatus. It has been suggested that alterations in vesicle trafficking proteins may be facilitators of epithelial carcinogenesis. [73, 74]
CCDC109b coiled-coil domain containing 109B also known as MCUb. This gene codes a protein that interacts with the mitochondrial calcium transporter protein, CCDC109a/MCU, reducing the activity of the transporter. Calcium homeostasis in mitochondria may regulate cell death pathways. [75, 76]
LINC00596 long intergenic non-protein coding RNA 596 no literature data available.
SEC24B-AS1 SEC24B antisense RNA 1 long non-coding RNA (lncRNA) that is involved in gene expression regulation. [77]
RP11-564A8.8 NA no literature data available.
FAM87A family with sequence similarity 87 member A no literature data available.
  1. aAccording to Ensembl database [51]. bAccording to HUGO Gene Nomenclature Committee (HGNC) [4]. NA Not available