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Table 1 Colon Cancer Gene Set analyzed in this study

From: Colon cancer associated genes exhibit signatures of positive selection at functionally significant positions

Gene (HGNC code) Ensembl Identifier Taxa Number2 Alignment Length3 Syndrome Tumor Types Observed Pathway(s) References4
APC ENSG00000134982 20 9177 Familial adenomatous polyposis (FAP) Colon, thyroid, stomach, intestine APC [19, 24]
ATM ENSG00000149311 18 9189 Ataxia telangiectasia (A-T) Leukemia, lymphoma, colorectal CIN [24], [17]
BHD ENSG00000154803 20 1737 Birt-Hogg-Dube syndrome Renal, colon AMPK, mTOR, STAT [24]
BMPR1A ENSG00000107779 19 1596 Juvenile polyposis Gastrointestinal SMAD [24]
CDH1 ENSG00000039068 15 2649 Familial gastric carcinoma Stomach AP [[24, 28] (E-cadherin)]
MADH4 ENSG00000141646 16 1656 Juvenile polyposis Gastrointestinal SMAD [[24], (SMAD4)]
MET ENSG00000105976 21 4146 Hereditary papillary renal cell carcinoma (HPRCC) Kidney, colorectal RAS, PI3K, STAT, Beta-catenin, Notch [24]
MLH1 ENSG00000076242 19 2274 Hereditary non-polyposis colon cancer (HNPCC) Colon, uterus MMR [24]
MSH2 ENSG00000095002 18 2802 Hereditary non-polyposis colon cancer (HNPCC) Colon, uterus MMR [24]
MSH6 ENSG00000116062 19 4101 Hereditary non-polyposis colon cancer (HNPCC) Colon, uterus MMR [24]
MUTYH ENSG00000132781 21 1569 Attenuated Polyposis Colon BER [24]
NF1 ENSG00000196712 17 8523 Neurofibromatosis type I Neurofibroma, colon RTK [24]
PMS1 ENSG00000064933 20 2799 Hereditary non-polyposis colon cancer (HNPCC) Colon, uterus MMR  
PMS2 ENSG00000122512 21 2592 Hereditary non-polyposis colon cancer (HNPCC) Colon, uterus MMR [24]
PTEN ENSG00000171862 18 1209 Cowden syndrome Hamartoma, glioma, colorectum PI3K [24], [17]
SDHB ENSG00000117118 18 840 Hereditary paraganglioma, Carney–Stratakis Paragangliomas, pheochromocytomas, gastrointestinal HIF1 [24]
SDHC ENSG00000143252 16 507 Hereditary paraganglioma, Carney–Stratakis Paragangliomas, pheochromocytomas, gastrointestinal HIF1 [24]
STK11 ENSG00000118046 18 1320 Peutz-Jeghers syndrome Intestinal, ovarian, pancreatic, colorectal PI3K [24, 29]
TP53 ENSG00000141510 16 1185 Li-Fraumeni syndrome/sarcoma Breast, sarcoma, adrenal, brain, colorectal p53 [24, 29]
TSC1 ENSG00000165699 18 3495 Tuberous sclerosis Hamartoma, kidney, colorectal PI3K [24, 29]
TSC2 ENSG00000103197 19 5436 Tuberous sclerosis Hamartoma, kidney, colorectal PI3K [24, 29]
VHL ENSG00000134086 18 639 Von Hippel-Lindau syndrom Kidney, colorectal HIF1 [24]
  1. Each of the 22 genes analyzed in this study are detailed, including their HGNC approved gene symbols, and Ensembl gene IDs. The total number of species analyzed for each gene and the overall length of alignment in base pairs are also given. The syndrome, tumor type observed and pathway involved are detailed. References citing alternative gene names are identified using rounded parentheses.