Tissue | Expression Dynamics | Abbreviation |
Esophagus | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Esophagus/IFT52_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Liver | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Liver/IFT52_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Oral Cavity | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/OralCavity/IFT52_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Thyroid | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Thyroid/IFT52_pca_on_diff_genes.png) | ATC: Anaplastic thyroid cancer |
HT: Hashimoto's thyroiditis |
PTC: Papillary thyroid cancer |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:005160418 | Esophagus | ESCC | protein maturation | 189/8552 | 294/18723 | 7.64e-11 | 2.39e-09 | 189 |
GO:003070518 | Esophagus | ESCC | cytoskeleton-dependent intracellular transport | 133/8552 | 195/18723 | 1.48e-10 | 4.27e-09 | 133 |
GO:001097013 | Esophagus | ESCC | transport along microtubule | 107/8552 | 155/18723 | 3.17e-09 | 6.80e-08 | 107 |
GO:000184115 | Esophagus | ESCC | neural tube formation | 75/8552 | 102/18723 | 9.68e-09 | 1.95e-07 | 75 |
GO:003150314 | Esophagus | ESCC | protein-containing complex localization | 139/8552 | 220/18723 | 1.14e-07 | 1.85e-06 | 139 |
GO:00219159 | Esophagus | ESCC | neural tube development | 101/8552 | 152/18723 | 1.78e-07 | 2.79e-06 | 101 |
GO:00163316 | Esophagus | ESCC | morphogenesis of embryonic epithelium | 98/8552 | 147/18723 | 2.12e-07 | 3.27e-06 | 98 |
GO:000183814 | Esophagus | ESCC | embryonic epithelial tube formation | 83/8552 | 121/18723 | 2.78e-07 | 4.08e-06 | 83 |
GO:003514815 | Esophagus | ESCC | tube formation | 96/8552 | 148/18723 | 1.86e-06 | 2.16e-05 | 96 |
GO:00721759 | Esophagus | ESCC | epithelial tube formation | 86/8552 | 132/18723 | 4.81e-06 | 5.10e-05 | 86 |
GO:006056210 | Esophagus | ESCC | epithelial tube morphogenesis | 187/8552 | 325/18723 | 9.95e-06 | 9.44e-05 | 187 |
GO:001648514 | Esophagus | ESCC | protein processing | 134/8552 | 225/18723 | 1.81e-05 | 1.60e-04 | 134 |
GO:00991114 | Esophagus | ESCC | microtubule-based transport | 115/8552 | 190/18723 | 2.54e-05 | 2.15e-04 | 115 |
GO:005067318 | Esophagus | ESCC | epithelial cell proliferation | 238/8552 | 437/18723 | 1.19e-04 | 8.20e-04 | 238 |
GO:005067817 | Esophagus | ESCC | regulation of epithelial cell proliferation | 206/8552 | 381/18723 | 5.51e-04 | 3.02e-03 | 206 |
GO:00485687 | Esophagus | ESCC | embryonic organ development | 228/8552 | 427/18723 | 7.28e-04 | 3.79e-03 | 228 |
GO:00487367 | Esophagus | ESCC | appendage development | 98/8552 | 172/18723 | 1.83e-03 | 8.37e-03 | 98 |
GO:00601737 | Esophagus | ESCC | limb development | 98/8552 | 172/18723 | 1.83e-03 | 8.37e-03 | 98 |
GO:19055153 | Esophagus | ESCC | non-motile cilium assembly | 39/8552 | 61/18723 | 3.08e-03 | 1.28e-02 | 39 |
GO:005160412 | Liver | HCC | protein maturation | 171/7958 | 294/18723 | 3.80e-08 | 8.30e-07 | 171 |
Hugo Symbol | Variant Class | Variant Classification | dbSNP RS | HGVSc | HGVSp | HGVSp Short | SWISSPROT | BIOTYPE | SIFT | PolyPhen | Tumor Sample Barcode | Tissue | Histology | Sex | Age | Stage | Therapy Types | Drugs | Outcome |
IFT52 | SNV | Missense_Mutation | | c.382N>A | p.Glu128Lys | p.E128K | Q9Y366 | protein_coding | deleterious(0.03) | probably_damaging(0.998) | TCGA-D1-A16S-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
IFT52 | SNV | Missense_Mutation | rs145672738 | c.931N>A | p.Glu311Lys | p.E311K | Q9Y366 | protein_coding | tolerated(0.3) | benign(0.006) | TCGA-D1-A177-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
IFT52 | SNV | Missense_Mutation | | c.28N>A | p.Leu10Ile | p.L10I | Q9Y366 | protein_coding | tolerated(0.56) | benign(0.009) | TCGA-D1-A17Q-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
IFT52 | SNV | Missense_Mutation | | c.71N>A | p.Gly24Asp | p.G24D | Q9Y366 | protein_coding | deleterious(0.01) | probably_damaging(0.976) | TCGA-D1-A17R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
IFT52 | SNV | Missense_Mutation | novel | c.413G>A | p.Arg138Lys | p.R138K | Q9Y366 | protein_coding | deleterious(0.03) | probably_damaging(0.996) | TCGA-DF-A2KU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
IFT52 | SNV | Missense_Mutation | novel | c.32N>G | p.Phe11Cys | p.F11C | Q9Y366 | protein_coding | deleterious(0) | probably_damaging(0.933) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
IFT52 | SNV | Missense_Mutation | novel | c.1025N>A | p.Ser342Asn | p.S342N | Q9Y366 | protein_coding | tolerated(0.69) | benign(0.07) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
IFT52 | SNV | Missense_Mutation | novel | c.97N>T | p.Arg33Trp | p.R33W | Q9Y366 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-QS-A5YQ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | CR |
IFT52 | SNV | Missense_Mutation | rs768728172 | c.1228N>A | p.Val410Ile | p.V410I | Q9Y366 | protein_coding | tolerated(1) | benign(0) | TCGA-WQ-A9G7-01 | Liver | liver hepatocellular carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
IFT52 | SNV | Missense_Mutation | | c.1018N>G | p.Pro340Ala | p.P340A | Q9Y366 | protein_coding | deleterious(0.05) | benign(0.4) | TCGA-55-6975-01 | Lung | lung adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | PD |