Tissue | Expression Dynamics | Abbreviation |
Cervix | | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
Colorectum (GSE201348) | | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
Esophagus | | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Liver | | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Oral Cavity | | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Prostate | | BPH: Benign Prostatic Hyperplasia |
Skin | | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
Thyroid | | 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:00165705 | Cervix | CC | histone modification | 84/2311 | 463/18723 | 1.70e-04 | 2.01e-03 | 84 |
GO:20010209 | Cervix | CC | regulation of response to DNA damage stimulus | 46/2311 | 219/18723 | 1.92e-04 | 2.23e-03 | 46 |
GO:00349685 | Cervix | CC | histone lysine methylation | 27/2311 | 115/18723 | 6.61e-04 | 6.09e-03 | 27 |
GO:00310565 | Cervix | CC | regulation of histone modification | 33/2311 | 152/18723 | 7.97e-04 | 7.00e-03 | 33 |
GO:00987275 | Cervix | CC | maintenance of cell number | 30/2311 | 134/18723 | 7.98e-04 | 7.00e-03 | 30 |
GO:00026973 | Cervix | CC | regulation of immune effector process | 62/2311 | 339/18723 | 9.25e-04 | 7.84e-03 | 62 |
GO:00510528 | Cervix | CC | regulation of DNA metabolic process | 65/2311 | 359/18723 | 9.25e-04 | 7.84e-03 | 65 |
GO:00026967 | Cervix | CC | positive regulation of leukocyte activation | 72/2311 | 409/18723 | 1.13e-03 | 9.31e-03 | 72 |
GO:00512516 | Cervix | CC | positive regulation of lymphocyte activation | 65/2311 | 362/18723 | 1.15e-03 | 9.39e-03 | 65 |
GO:00198274 | Cervix | CC | stem cell population maintenance | 29/2311 | 131/18723 | 1.17e-03 | 9.47e-03 | 29 |
GO:00508676 | Cervix | CC | positive regulation of cell activation | 73/2311 | 420/18723 | 1.50e-03 | 1.16e-02 | 73 |
GO:00165715 | Cervix | CC | histone methylation | 30/2311 | 141/18723 | 1.88e-03 | 1.39e-02 | 30 |
GO:19908234 | Cervix | CC | response to leukemia inhibitory factor | 22/2311 | 95/18723 | 2.40e-03 | 1.70e-02 | 22 |
GO:00180224 | Cervix | CC | peptidyl-lysine methylation | 28/2311 | 131/18723 | 2.43e-03 | 1.71e-02 | 28 |
GO:00064795 | Cervix | CC | protein methylation | 36/2311 | 181/18723 | 2.46e-03 | 1.71e-02 | 36 |
GO:00082135 | Cervix | CC | protein alkylation | 36/2311 | 181/18723 | 2.46e-03 | 1.71e-02 | 36 |
GO:00024603 | Cervix | CC | adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains | 62/2311 | 356/18723 | 3.09e-03 | 2.03e-02 | 62 |
GO:0002263 | Cervix | CC | cell activation involved in immune response | 50/2311 | 279/18723 | 4.16e-03 | 2.57e-02 | 50 |
GO:19908304 | Cervix | CC | cellular response to leukemia inhibitory factor | 21/2311 | 94/18723 | 4.68e-03 | 2.82e-02 | 21 |
GO:0002443 | Cervix | CC | leukocyte mediated immunity | 73/2311 | 440/18723 | 5.01e-03 | 2.98e-02 | 73 |
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 |
RIF1 | SNV | Missense_Mutation | | c.4307N>C | p.Asn1436Thr | p.N1436T | Q5UIP0 | protein_coding | deleterious(0.01) | benign(0.211) | TCGA-B5-A11E-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RIF1 | SNV | Missense_Mutation | | c.6096N>C | p.Glu2032Asp | p.E2032D | Q5UIP0 | protein_coding | tolerated_low_confidence(0.06) | probably_damaging(0.97) | TCGA-B5-A11E-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RIF1 | SNV | Missense_Mutation | rs144483933 | c.7336N>A | p.Glu2446Lys | p.E2446K | Q5UIP0 | protein_coding | deleterious(0) | probably_damaging(0.986) | TCGA-B5-A11E-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RIF1 | SNV | Missense_Mutation | novel | c.523A>C | p.Ile175Leu | p.I175L | Q5UIP0 | protein_coding | tolerated(0.11) | benign(0.012) | TCGA-B5-A1MR-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
RIF1 | SNV | Missense_Mutation | novel | c.1768T>C | p.Phe590Leu | p.F590L | Q5UIP0 | protein_coding | tolerated(0.09) | benign(0.02) | TCGA-B5-A1MR-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
RIF1 | SNV | Missense_Mutation | novel | c.2438C>A | p.Ser813Tyr | p.S813Y | Q5UIP0 | protein_coding | deleterious(0) | possibly_damaging(0.73) | TCGA-B5-A1MR-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
RIF1 | SNV | Missense_Mutation | novel | c.3293G>A | p.Ser1098Asn | p.S1098N | Q5UIP0 | protein_coding | tolerated(0.05) | benign(0.357) | TCGA-B5-A1MR-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
RIF1 | SNV | Missense_Mutation | novel | c.7036N>G | p.Ile2346Val | p.I2346V | Q5UIP0 | protein_coding | deleterious(0.03) | possibly_damaging(0.848) | TCGA-B5-A1MW-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
RIF1 | SNV | Missense_Mutation | | c.3109G>A | p.Gly1037Ser | p.G1037S | Q5UIP0 | protein_coding | tolerated(1) | benign(0) | TCGA-B5-A1MX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Hormone Therapy | megace | SD |
RIF1 | SNV | Missense_Mutation | novel | c.5672A>T | p.Glu1891Val | p.E1891V | Q5UIP0 | protein_coding | deleterious_low_confidence(0) | benign(0.007) | TCGA-B5-A1MX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Hormone Therapy | megace | SD |