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Gene: RIF1 |
Gene summary for RIF1 |
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Gene information | Species | Human | Gene symbol | RIF1 | Gene ID | 55183 |
Gene name | replication timing regulatory factor 1 | |
Gene Alias | RIF1 | |
Cytomap | 2q23.3 | |
Gene Type | protein-coding | GO ID | GO:0000018 | UniProtAcc | Q5UIP0 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
55183 | RIF1 | CA_HPV_1 | Human | Cervix | CC | 3.72e-03 | -4.79e-02 | 0.0264 |
55183 | RIF1 | CCI_1 | Human | Cervix | CC | 4.42e-02 | 5.65e-01 | 0.528 |
55183 | RIF1 | CCI_2 | Human | Cervix | CC | 6.25e-12 | 1.06e+00 | 0.5249 |
55183 | RIF1 | CCI_3 | Human | Cervix | CC | 1.20e-05 | 6.27e-01 | 0.516 |
55183 | RIF1 | HTA11_3410_2000001011 | Human | Colorectum | AD | 2.29e-13 | -4.77e-01 | 0.0155 |
55183 | RIF1 | HTA11_2487_2000001011 | Human | Colorectum | SER | 2.92e-03 | -3.72e-01 | -0.1808 |
55183 | RIF1 | HTA11_3361_2000001011 | Human | Colorectum | AD | 2.71e-02 | -4.06e-01 | -0.1207 |
55183 | RIF1 | HTA11_696_2000001011 | Human | Colorectum | AD | 3.55e-05 | -3.80e-01 | -0.1464 |
55183 | RIF1 | HTA11_866_2000001011 | Human | Colorectum | AD | 1.36e-04 | -3.60e-01 | -0.1001 |
55183 | RIF1 | HTA11_1391_2000001011 | Human | Colorectum | AD | 2.55e-02 | -3.04e-01 | -0.059 |
55183 | RIF1 | HTA11_5212_2000001011 | Human | Colorectum | AD | 1.24e-02 | -5.55e-01 | -0.2061 |
55183 | RIF1 | HTA11_866_3004761011 | Human | Colorectum | AD | 2.92e-08 | -4.19e-01 | 0.096 |
55183 | RIF1 | HTA11_10711_2000001011 | Human | Colorectum | AD | 1.39e-02 | -3.46e-01 | 0.0338 |
55183 | RIF1 | HTA11_7696_3000711011 | Human | Colorectum | AD | 9.30e-07 | -4.00e-01 | 0.0674 |
55183 | RIF1 | HTA11_6818_2000001021 | Human | Colorectum | AD | 2.45e-03 | -4.24e-01 | 0.0588 |
55183 | RIF1 | A001-C-207 | Human | Colorectum | FAP | 4.79e-02 | -6.15e-02 | 0.1278 |
55183 | RIF1 | A015-C-203 | Human | Colorectum | FAP | 8.66e-18 | 3.55e-02 | -0.1294 |
55183 | RIF1 | A015-C-204 | Human | Colorectum | FAP | 1.61e-04 | 1.60e-02 | -0.0228 |
55183 | RIF1 | A014-C-040 | Human | Colorectum | FAP | 2.21e-02 | -2.85e-03 | -0.1184 |
55183 | RIF1 | A002-C-201 | Human | Colorectum | FAP | 6.13e-11 | -1.31e-01 | 0.0324 |
Page: 1 2 3 4 5 6 7 8 9 10 |
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∗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. |
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Malignant transformation related pathway analysis |
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Tissue | Disease Stage | Enriched GO biological Processes |
Colorectum | AD | ![]() |
Colorectum | SER | ![]() |
Colorectum | MSS | ![]() |
Colorectum | MSI-H | ![]() |
Colorectum | FAP | ![]() |
∗Top 15 enriched GO BP terms are showed in the bar plot of each disease state in each tissue. Each row represents a significant GO biological process which is colored according to the -log10(p.adjust). |
Page: 1 2 3 4 5 6 7 8 9 |
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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 |
Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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Cell-cell communication analysis |
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Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
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TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
∗The dot plots of a searched regulon are shown for all cell subpopulations in each disease state of each tissue based on the regulon specific score inferred using pySCENIC and by calculating the average expression. |
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Somatic mutation of malignant transformation related genes |
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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.6857N>A | p.Cys2286Tyr | p.C2286Y | Q5UIP0 | protein_coding | tolerated(0.09) | benign(0.308) | TCGA-G4-6628-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
RIF1 | SNV | Missense_Mutation | c.2816N>A | p.Phe939Tyr | p.F939Y | Q5UIP0 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AG-3726-01 | Colorectum | rectum adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
RIF1 | SNV | Missense_Mutation | rs752308528 | c.5267A>G | p.Asp1756Gly | p.D1756G | Q5UIP0 | protein_coding | tolerated(0.05) | benign(0.077) | TCGA-AG-3892-01 | Colorectum | rectum adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RIF1 | SNV | Missense_Mutation | c.5441C>T | p.Ser1814Phe | p.S1814F | Q5UIP0 | protein_coding | deleterious_low_confidence(0.01) | benign(0.246) | TCGA-AG-3892-01 | Colorectum | rectum adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
RIF1 | SNV | Missense_Mutation | c.4106N>C | p.Glu1369Ala | p.E1369A | Q5UIP0 | protein_coding | deleterious(0.04) | benign(0.056) | TCGA-AG-A002-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
RIF1 | SNV | Missense_Mutation | c.6595A>C | p.Asn2199His | p.N2199H | Q5UIP0 | protein_coding | tolerated(0.18) | benign(0.003) | TCGA-AG-A036-01 | Colorectum | rectum adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | 5-fluorouracil | CR | |
RIF1 | SNV | Missense_Mutation | rs756092280 | c.1142C>T | p.Ser381Leu | p.S381L | Q5UIP0 | protein_coding | tolerated(0.09) | possibly_damaging(0.857) | TCGA-EI-6917-01 | Colorectum | rectum adenocarcinoma | Male | <65 | III/IV | Chemotherapy | 5fluorouracil+oxaciplatina+l-folinian | SD |
RIF1 | SNV | Missense_Mutation | novel | c.6604C>T | p.Arg2202Cys | p.R2202C | Q5UIP0 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-EI-6917-01 | Colorectum | rectum adenocarcinoma | Male | <65 | III/IV | Chemotherapy | 5fluorouracil+oxaciplatina+l-folinian | SD |
RIF1 | SNV | Missense_Mutation | novel | c.698N>C | p.Leu233Ser | p.L233S | Q5UIP0 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-F5-6814-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
RIF1 | insertion | Frame_Shift_Ins | novel | c.2068_2069insT | p.Ser692PhefsTer15 | p.S692Ffs*15 | Q5UIP0 | protein_coding | TCGA-A6-2686-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 |
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Related drugs of malignant transformation related genes |
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(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
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