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 | insertion | Nonsense_Mutation | novel | c.3877_3878insCTGTACTCCAGCGTTGGCAATAGAGTGAGAC | p.Ile1293ThrfsTer8 | p.I1293Tfs*8 | Q9NVI1 | protein_coding | | | TCGA-AN-A04C-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
FANCI | insertion | In_Frame_Ins | novel | c.2886_2887insGTCGGGAAAGAAAGAGAAAGGAAAGAG | p.Phe962_Gln963insValGlyLysGluArgGluArgLysGlu | p.F962_Q963insVGKERERKE | Q9NVI1 | protein_coding | | | TCGA-AN-A0FX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
FANCI | insertion | Nonsense_Mutation | novel | c.933_934insGCCAGACTGATCTTGAACTCCTGACCTCAAGTGACC | p.Ala311_Leu312insAlaArgLeuIleLeuAsnSerTerProGlnValThr | p.A311_L312insARLILNS*PQVT | Q9NVI1 | protein_coding | | | TCGA-B6-A0RG-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
FANCI | SNV | Missense_Mutation | | c.1539N>C | p.Met513Ile | p.M513I | Q9NVI1 | protein_coding | tolerated(0.08) | benign(0.001) | TCGA-C5-A1MH-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | cisplatin | PD |
FANCI | SNV | Missense_Mutation | | c.736N>C | p.Glu246Gln | p.E246Q | Q9NVI1 | protein_coding | deleterious(0.03) | benign(0.109) | TCGA-IR-A3LA-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
FANCI | SNV | Missense_Mutation | | c.937N>T | p.Leu313Phe | p.L313F | Q9NVI1 | protein_coding | tolerated(0.16) | benign(0.042) | TCGA-JW-A5VL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
FANCI | SNV | Missense_Mutation | novel | c.2501N>T | p.Ser834Phe | p.S834F | Q9NVI1 | protein_coding | deleterious(0) | probably_damaging(0.946) | TCGA-VS-A94Z-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
FANCI | SNV | Missense_Mutation | | c.2115N>G | p.Ile705Met | p.I705M | Q9NVI1 | protein_coding | tolerated(1) | benign(0.017) | TCGA-A6-5665-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
FANCI | SNV | Missense_Mutation | | c.2896N>G | p.Leu966Val | p.L966V | Q9NVI1 | protein_coding | tolerated(0.45) | possibly_damaging(0.482) | TCGA-AA-3488-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Unknown | Unknown | PD |
FANCI | SNV | Missense_Mutation | rs773105092 | c.1514C>A | p.Pro505His | p.P505H | Q9NVI1 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AA-3870-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Chemotherapy | folinic | CR |