Tissue | Expression Dynamics | Abbreviation |
Cervix | ![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/Cervix/FANCI_pca_on_diff_genes.png) | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
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/FANCI_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/FANCI_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/FANCI_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/FANCI_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:190332010 | Cervix | CC | regulation of protein modification by small protein conjugation or removal | 66/2311 | 242/18723 | 2.31e-10 | 3.46e-08 | 66 |
GO:003139610 | Cervix | CC | regulation of protein ubiquitination | 59/2311 | 210/18723 | 5.90e-10 | 7.51e-08 | 59 |
GO:00313983 | Cervix | CC | positive regulation of protein ubiquitination | 25/2311 | 119/18723 | 5.09e-03 | 3.01e-02 | 25 |
GO:19033224 | Cervix | CC | positive regulation of protein modification by small protein conjugation or removal | 28/2311 | 138/18723 | 5.26e-03 | 3.08e-02 | 28 |
GO:003139615 | Cervix | HSIL_HPV | regulation of protein ubiquitination | 33/737 | 210/18723 | 1.02e-11 | 6.81e-09 | 33 |
GO:190332015 | Cervix | HSIL_HPV | regulation of protein modification by small protein conjugation or removal | 34/737 | 242/18723 | 1.16e-10 | 4.31e-08 | 34 |
GO:003139812 | Cervix | HSIL_HPV | positive regulation of protein ubiquitination | 13/737 | 119/18723 | 8.24e-04 | 1.07e-02 | 13 |
GO:190332212 | Cervix | HSIL_HPV | positive regulation of protein modification by small protein conjugation or removal | 13/737 | 138/18723 | 3.16e-03 | 2.88e-02 | 13 |
GO:1903320111 | Esophagus | ESCC | regulation of protein modification by small protein conjugation or removal | 181/8552 | 242/18723 | 1.80e-20 | 2.60e-18 | 181 |
GO:0031396111 | Esophagus | ESCC | regulation of protein ubiquitination | 154/8552 | 210/18723 | 2.70e-16 | 2.04e-14 | 154 |
GO:190332216 | Esophagus | ESCC | positive regulation of protein modification by small protein conjugation or removal | 99/8552 | 138/18723 | 4.39e-10 | 1.16e-08 | 99 |
GO:003139816 | Esophagus | ESCC | positive regulation of protein ubiquitination | 82/8552 | 119/18723 | 2.41e-07 | 3.64e-06 | 82 |
GO:190332022 | Liver | HCC | regulation of protein modification by small protein conjugation or removal | 167/7958 | 242/18723 | 4.99e-17 | 4.72e-15 | 167 |
GO:003139622 | Liver | HCC | regulation of protein ubiquitination | 142/7958 | 210/18723 | 1.39e-13 | 7.81e-12 | 142 |
GO:19033221 | Liver | HCC | positive regulation of protein modification by small protein conjugation or removal | 94/7958 | 138/18723 | 9.87e-10 | 3.01e-08 | 94 |
GO:00313981 | Liver | HCC | positive regulation of protein ubiquitination | 79/7958 | 119/18723 | 1.18e-07 | 2.26e-06 | 79 |
GO:190332020 | Oral cavity | OSCC | regulation of protein modification by small protein conjugation or removal | 165/7305 | 242/18723 | 2.52e-20 | 3.99e-18 | 165 |
GO:003139620 | Oral cavity | OSCC | regulation of protein ubiquitination | 143/7305 | 210/18723 | 1.01e-17 | 9.80e-16 | 143 |
GO:19033227 | Oral cavity | OSCC | positive regulation of protein modification by small protein conjugation or removal | 88/7305 | 138/18723 | 3.24e-09 | 7.39e-08 | 88 |
GO:00313986 | Oral cavity | OSCC | positive regulation of protein ubiquitination | 75/7305 | 119/18723 | 9.46e-08 | 1.65e-06 | 75 |
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 |
FANCI | SNV | Missense_Mutation | | c.3608C>G | p.Ser1203Cys | p.S1203C | Q9NVI1 | protein_coding | deleterious(0) | probably_damaging(0.976) | TCGA-A8-A07W-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | exemestane | SD |
FANCI | SNV | Missense_Mutation | | c.629N>C | p.Ile210Thr | p.I210T | Q9NVI1 | protein_coding | deleterious(0) | possibly_damaging(0.72) | TCGA-A8-A08R-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
FANCI | SNV | Missense_Mutation | | c.1082C>T | p.Ser361Leu | p.S361L | Q9NVI1 | protein_coding | tolerated(0.11) | benign(0.027) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
FANCI | SNV | Missense_Mutation | novel | c.2068G>A | p.Glu690Lys | p.E690K | Q9NVI1 | protein_coding | tolerated(0.07) | benign(0.167) | TCGA-AC-A5XS-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | femara | SD |
FANCI | SNV | Missense_Mutation | | c.1730C>T | p.Ser577Phe | p.S577F | Q9NVI1 | protein_coding | deleterious(0.01) | possibly_damaging(0.812) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
FANCI | SNV | Missense_Mutation | | c.3407T>G | p.Met1136Arg | p.M1136R | Q9NVI1 | protein_coding | deleterious(0.02) | benign(0.005) | TCGA-AO-A0JB-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | SD |
FANCI | SNV | Missense_Mutation | | c.615N>A | p.Met205Ile | p.M205I | Q9NVI1 | protein_coding | deleterious(0.01) | benign(0.011) | TCGA-AR-A1AS-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
FANCI | SNV | Missense_Mutation | novel | c.2086N>A | p.Glu696Lys | p.E696K | Q9NVI1 | protein_coding | tolerated(0.31) | benign(0.037) | TCGA-GM-A2DO-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | CR |
FANCI | SNV | Missense_Mutation | novel | c.608C>T | p.Ser203Phe | p.S203F | Q9NVI1 | protein_coding | deleterious(0.04) | benign(0.397) | TCGA-PL-A8LV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
FANCI | insertion | Nonsense_Mutation | novel | c.2653_2654insGCTAAAAAATAGATAATAGAATATTA | p.Tyr885CysfsTer2 | p.Y885Cfs*2 | Q9NVI1 | protein_coding | | | TCGA-A8-A0A4-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | CR |