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/IFT57_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/IFT57_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Lung | ![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/Lung/IFT57_pca_on_diff_genes.png) | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
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/IFT57_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Prostate | ![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/Prostate/IFT57_pca_on_diff_genes.png) | BPH: Benign Prostatic Hyperplasia |
Skin | ![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/Skin/IFT57_pca_on_diff_genes.png) | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
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/IFT57_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:004586227 | Esophagus | HGIN | positive regulation of proteolysis | 107/2587 | 372/18723 | 2.61e-14 | 4.60e-12 | 107 |
GO:004328126 | Esophagus | HGIN | regulation of cysteine-type endopeptidase activity involved in apoptotic process | 59/2587 | 209/18723 | 3.39e-08 | 1.97e-06 | 59 |
GO:200011626 | Esophagus | HGIN | regulation of cysteine-type endopeptidase activity | 63/2587 | 235/18723 | 9.71e-08 | 5.02e-06 | 63 |
GO:005254726 | Esophagus | HGIN | regulation of peptidase activity | 102/2587 | 461/18723 | 6.29e-07 | 2.72e-05 | 102 |
GO:001095225 | Esophagus | HGIN | positive regulation of peptidase activity | 53/2587 | 197/18723 | 8.70e-07 | 3.59e-05 | 53 |
GO:005254826 | Esophagus | HGIN | regulation of endopeptidase activity | 96/2587 | 432/18723 | 1.09e-06 | 4.30e-05 | 96 |
GO:004328020 | Esophagus | HGIN | positive regulation of cysteine-type endopeptidase activity involved in apoptotic process | 38/2587 | 129/18723 | 2.92e-06 | 1.01e-04 | 38 |
GO:200105620 | Esophagus | HGIN | positive regulation of cysteine-type endopeptidase activity | 41/2587 | 148/18723 | 6.65e-06 | 2.07e-04 | 41 |
GO:001095020 | Esophagus | HGIN | positive regulation of endopeptidase activity | 47/2587 | 179/18723 | 7.23e-06 | 2.20e-04 | 47 |
GO:00315035 | Esophagus | HGIN | protein-containing complex localization | 50/2587 | 220/18723 | 2.18e-04 | 3.98e-03 | 50 |
GO:003070517 | Esophagus | HGIN | cytoskeleton-dependent intracellular transport | 45/2587 | 195/18723 | 3.07e-04 | 5.15e-03 | 45 |
GO:00069197 | Esophagus | HGIN | activation of cysteine-type endopeptidase activity involved in apoptotic process | 21/2587 | 78/18723 | 1.65e-03 | 1.82e-02 | 21 |
GO:00109707 | Esophagus | HGIN | transport along microtubule | 35/2587 | 155/18723 | 2.01e-03 | 2.12e-02 | 35 |
GO:00018438 | Esophagus | HGIN | neural tube closure | 22/2587 | 88/18723 | 3.57e-03 | 3.27e-02 | 22 |
GO:00018389 | Esophagus | HGIN | embryonic epithelial tube formation | 28/2587 | 121/18723 | 3.72e-03 | 3.39e-02 | 28 |
GO:00140209 | Esophagus | HGIN | primary neural tube formation | 23/2587 | 94/18723 | 3.92e-03 | 3.54e-02 | 23 |
GO:00606067 | Esophagus | HGIN | tube closure | 22/2587 | 89/18723 | 4.14e-03 | 3.70e-02 | 22 |
GO:000184114 | Esophagus | HGIN | neural tube formation | 24/2587 | 102/18723 | 5.54e-03 | 4.52e-02 | 24 |
GO:0045862111 | Esophagus | ESCC | positive regulation of proteolysis | 256/8552 | 372/18723 | 7.88e-20 | 9.43e-18 | 256 |
GO:2000116111 | Esophagus | ESCC | regulation of cysteine-type endopeptidase activity | 158/8552 | 235/18723 | 1.67e-11 | 5.90e-10 | 158 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0501630 | Esophagus | HGIN | Huntington disease | 129/1383 | 306/8465 | 6.81e-28 | 7.41e-26 | 5.88e-26 | 129 |
hsa0502230 | Esophagus | HGIN | Pathways of neurodegeneration - multiple diseases | 153/1383 | 476/8465 | 1.22e-18 | 4.41e-17 | 3.50e-17 | 153 |
hsa05016113 | Esophagus | HGIN | Huntington disease | 129/1383 | 306/8465 | 6.81e-28 | 7.41e-26 | 5.88e-26 | 129 |
hsa05022113 | Esophagus | HGIN | Pathways of neurodegeneration - multiple diseases | 153/1383 | 476/8465 | 1.22e-18 | 4.41e-17 | 3.50e-17 | 153 |
hsa05016210 | Esophagus | ESCC | Huntington disease | 226/4205 | 306/8465 | 1.38e-18 | 8.72e-17 | 4.46e-17 | 226 |
hsa05022210 | Esophagus | ESCC | Pathways of neurodegeneration - multiple diseases | 318/4205 | 476/8465 | 6.10e-15 | 2.04e-13 | 1.05e-13 | 318 |
hsa0501638 | Esophagus | ESCC | Huntington disease | 226/4205 | 306/8465 | 1.38e-18 | 8.72e-17 | 4.46e-17 | 226 |
hsa0502238 | Esophagus | ESCC | Pathways of neurodegeneration - multiple diseases | 318/4205 | 476/8465 | 6.10e-15 | 2.04e-13 | 1.05e-13 | 318 |
hsa0501614 | Liver | Cirrhotic | Huntington disease | 172/2530 | 306/8465 | 1.65e-22 | 1.10e-20 | 6.77e-21 | 172 |
hsa0502214 | Liver | Cirrhotic | Pathways of neurodegeneration - multiple diseases | 217/2530 | 476/8465 | 7.30e-14 | 2.03e-12 | 1.25e-12 | 217 |
hsa0501615 | Liver | Cirrhotic | Huntington disease | 172/2530 | 306/8465 | 1.65e-22 | 1.10e-20 | 6.77e-21 | 172 |
hsa0502215 | Liver | Cirrhotic | Pathways of neurodegeneration - multiple diseases | 217/2530 | 476/8465 | 7.30e-14 | 2.03e-12 | 1.25e-12 | 217 |
hsa0501622 | Liver | HCC | Huntington disease | 219/4020 | 306/8465 | 3.06e-18 | 3.42e-16 | 1.90e-16 | 219 |
hsa0502222 | Liver | HCC | Pathways of neurodegeneration - multiple diseases | 298/4020 | 476/8465 | 6.59e-12 | 1.30e-10 | 7.22e-11 | 298 |
hsa0501632 | Liver | HCC | Huntington disease | 219/4020 | 306/8465 | 3.06e-18 | 3.42e-16 | 1.90e-16 | 219 |
hsa0502232 | Liver | HCC | Pathways of neurodegeneration - multiple diseases | 298/4020 | 476/8465 | 6.59e-12 | 1.30e-10 | 7.22e-11 | 298 |
hsa0501628 | Oral cavity | OSCC | Huntington disease | 204/3704 | 306/8465 | 1.70e-16 | 7.13e-15 | 3.63e-15 | 204 |
hsa0502228 | Oral cavity | OSCC | Pathways of neurodegeneration - multiple diseases | 292/3704 | 476/8465 | 1.60e-15 | 4.47e-14 | 2.28e-14 | 292 |
hsa05016112 | Oral cavity | OSCC | Huntington disease | 204/3704 | 306/8465 | 1.70e-16 | 7.13e-15 | 3.63e-15 | 204 |
hsa05022112 | Oral cavity | OSCC | Pathways of neurodegeneration - multiple diseases | 292/3704 | 476/8465 | 1.60e-15 | 4.47e-14 | 2.28e-14 | 292 |
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 |
IFT57 | SNV | Missense_Mutation | | c.634A>G | p.Lys212Glu | p.K212E | Q9NWB7 | protein_coding | tolerated(0.13) | benign(0.207) | TCGA-E2-A1LA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | SD |
IFT57 | SNV | Missense_Mutation | | c.79N>A | p.Glu27Lys | p.E27K | Q9NWB7 | protein_coding | tolerated_low_confidence(0.21) | benign(0) | TCGA-EK-A2PG-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |
IFT57 | SNV | Missense_Mutation | | c.544N>A | p.Asp182Asn | p.D182N | Q9NWB7 | protein_coding | deleterious(0.02) | benign(0.281) | TCGA-EK-A2R7-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
IFT57 | SNV | Missense_Mutation | novel | c.22N>C | p.Val8Leu | p.V8L | Q9NWB7 | protein_coding | deleterious_low_confidence(0.05) | benign(0.022) | TCGA-EK-A3GK-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
IFT57 | SNV | Missense_Mutation | | c.380N>T | p.Arg127Ile | p.R127I | Q9NWB7 | protein_coding | tolerated(0.41) | benign(0.013) | TCGA-AA-3510-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
IFT57 | SNV | Missense_Mutation | rs548451697 | c.244N>A | p.Glu82Lys | p.E82K | Q9NWB7 | protein_coding | deleterious(0.03) | probably_damaging(0.94) | TCGA-AZ-4315-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
IFT57 | SNV | Missense_Mutation | rs371129548 | c.733N>T | p.Arg245Cys | p.R245C | Q9NWB7 | protein_coding | deleterious(0) | probably_damaging(0.942) | TCGA-CM-6162-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Chemotherapy | oxaliplatin | SD |
IFT57 | insertion | Frame_Shift_Ins | novel | c.1137_1138insAGTATGTT | p.Leu380SerfsTer4 | p.L380Sfs*4 | Q9NWB7 | protein_coding | | | TCGA-AM-5820-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
IFT57 | insertion | Nonsense_Mutation | novel | c.874_875insGAAATCATTCTT | p.Glu292delinsGlyAsnHisSerTer | p.E292delinsGNHS* | Q9NWB7 | protein_coding | | | TCGA-AM-5820-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
IFT57 | SNV | Missense_Mutation | novel | c.1262N>G | p.Ile421Ser | p.I421S | Q9NWB7 | protein_coding | deleterious_low_confidence(0) | benign(0.054) | TCGA-A5-A0G1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |