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:00219155 | Lung | IAC | neural tube development | 29/2061 | 152/18723 | 2.19e-03 | 2.15e-02 | 29 |
GO:00163312 | Lung | IAC | morphogenesis of embryonic epithelium | 28/2061 | 147/18723 | 2.65e-03 | 2.44e-02 | 28 |
GO:0044782 | Lung | IAC | cilium organization | 58/2061 | 368/18723 | 3.15e-03 | 2.75e-02 | 58 |
GO:00432807 | Lung | IAC | positive regulation of cysteine-type endopeptidase activity involved in apoptotic process | 25/2061 | 129/18723 | 3.43e-03 | 2.93e-02 | 25 |
GO:00721755 | Lung | IAC | epithelial tube formation | 25/2061 | 132/18723 | 4.69e-03 | 3.68e-02 | 25 |
GO:00109704 | Lung | IAC | transport along microtubule | 28/2061 | 155/18723 | 5.72e-03 | 4.18e-02 | 28 |
GO:00485684 | Lung | IAC | embryonic organ development | 64/2061 | 427/18723 | 6.46e-03 | 4.59e-02 | 64 |
GO:00506785 | Lung | IAC | regulation of epithelial cell proliferation | 58/2061 | 381/18723 | 6.67e-03 | 4.67e-02 | 58 |
GO:004586213 | Lung | AIS | positive regulation of proteolysis | 73/1849 | 372/18723 | 7.68e-09 | 1.21e-06 | 73 |
GO:006056211 | Lung | AIS | epithelial tube morphogenesis | 57/1849 | 325/18723 | 1.27e-05 | 4.78e-04 | 57 |
GO:003070512 | Lung | AIS | cytoskeleton-dependent intracellular transport | 37/1849 | 195/18723 | 7.68e-05 | 1.95e-03 | 37 |
GO:000184111 | Lung | AIS | neural tube formation | 23/1849 | 102/18723 | 1.24e-04 | 2.82e-03 | 23 |
GO:003150311 | Lung | AIS | protein-containing complex localization | 39/1849 | 220/18723 | 2.24e-04 | 4.51e-03 | 39 |
GO:001402011 | Lung | AIS | primary neural tube formation | 21/1849 | 94/18723 | 2.75e-04 | 5.19e-03 | 21 |
GO:000184311 | Lung | AIS | neural tube closure | 20/1849 | 88/18723 | 2.99e-04 | 5.54e-03 | 20 |
GO:006060611 | Lung | AIS | tube closure | 20/1849 | 89/18723 | 3.50e-04 | 6.28e-03 | 20 |
GO:005254713 | Lung | AIS | regulation of peptidase activity | 68/1849 | 461/18723 | 5.01e-04 | 8.23e-03 | 68 |
GO:000183811 | Lung | AIS | embryonic epithelial tube formation | 24/1849 | 121/18723 | 6.82e-04 | 1.02e-02 | 24 |
GO:19055151 | Lung | AIS | non-motile cilium assembly | 15/1849 | 61/18723 | 6.88e-04 | 1.02e-02 | 15 |
GO:002191511 | Lung | AIS | neural tube development | 28/1849 | 152/18723 | 8.81e-04 | 1.19e-02 | 28 |
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 |