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 | novel | c.1679N>A | p.Pro560His | p.P560H | Q5UIP0 | protein_coding | deleterious(0) | probably_damaging(0.991) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
RIF1 | SNV | Missense_Mutation | novel | c.3328N>G | p.Arg1110Gly | p.R1110G | Q5UIP0 | protein_coding | deleterious(0.02) | benign(0.014) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
RIF1 | SNV | Missense_Mutation | novel | c.6458N>A | p.Pro2153His | p.P2153H | Q5UIP0 | protein_coding | deleterious(0) | possibly_damaging(0.535) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
RIF1 | SNV | Missense_Mutation | rs780970704 | c.6790N>T | p.Arg2264Cys | p.R2264C | Q5UIP0 | protein_coding | deleterious(0) | possibly_damaging(0.855) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
RIF1 | SNV | Missense_Mutation | rs761686456 | c.499N>A | p.Val167Ile | p.V167I | Q5UIP0 | protein_coding | tolerated(1) | benign(0) | TCGA-A5-A0GG-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RIF1 | SNV | Missense_Mutation | | c.169N>C | p.Tyr57His | p.Y57H | Q5UIP0 | protein_coding | tolerated(0.5) | possibly_damaging(0.547) | TCGA-A5-A0GP-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RIF1 | SNV | Missense_Mutation | novel | c.5231A>G | p.Lys1744Arg | p.K1744R | Q5UIP0 | protein_coding | tolerated(0.07) | possibly_damaging(0.867) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RIF1 | SNV | Missense_Mutation | novel | c.6415G>A | p.Glu2139Lys | p.E2139K | Q5UIP0 | protein_coding | deleterious(0.04) | benign(0.063) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RIF1 | SNV | Missense_Mutation | rs113438605 | c.2587N>A | p.Ala863Thr | p.A863T | Q5UIP0 | protein_coding | tolerated(0.08) | benign(0.043) | TCGA-A5-A2K5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RIF1 | SNV | Missense_Mutation | novel | c.6417N>C | p.Glu2139Asp | p.E2139D | Q5UIP0 | protein_coding | deleterious(0.02) | benign(0.366) | TCGA-A5-A2K5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |