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Gene: RBL1 |
Gene summary for RBL1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | RBL1 | Gene ID | 5933 |
| Gene name | RB transcriptional corepressor like 1 | |
| Gene Alias | CP107 | |
| Cytomap | 20q11.23 | |
| Gene Type | protein-coding | GO ID | GO:0000082 | UniProtAcc | P28749 |
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Malignant transformation analysis |
| Identification of the aberrant gene expression in precancerous and cancerous lesions by comparing the gene expression of stem-like cells in diseased tissues with normal stem cells |
| Malignant transformation involving gene list. |
| Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
| 5933 | RBL1 | CCI_1 | Human | Cervix | CC | 1.12e-05 | 5.29e-01 | 0.528 |
| 5933 | RBL1 | CCI_3 | Human | Cervix | CC | 4.51e-20 | 8.08e-01 | 0.516 |
| 5933 | RBL1 | CCII_1 | Human | Cervix | CC | 7.45e-05 | 2.57e-01 | 0.3249 |
| 5933 | RBL1 | HCC1_Meng | Human | Liver | HCC | 7.28e-04 | -1.55e-02 | 0.0246 |
| 5933 | RBL1 | HCC1 | Human | Liver | HCC | 9.59e-07 | 2.28e+00 | 0.5336 |
| 5933 | RBL1 | HCC2 | Human | Liver | HCC | 1.80e-16 | 2.21e+00 | 0.5341 |
| 5933 | RBL1 | HCC5 | Human | Liver | HCC | 1.51e-05 | 1.02e+00 | 0.4932 |
| 5933 | RBL1 | S015 | Human | Liver | HCC | 1.52e-02 | 1.50e-01 | 0.2375 |
| 5933 | RBL1 | S028 | Human | Liver | HCC | 2.10e-04 | 2.76e-01 | 0.2503 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Cervix |  | CC: Cervix cancer |
| HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions | ||
| N_HPV: HPV-infected normal cervix | ||
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease |
| ∗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 |
| Find out the enriched GO biological processes and KEGG pathways involved in transition from healthy to precancer to cancer |
| Figure of enriched GO biological processes. |
| 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 |
| Enriched GO biological processes. |
| GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
| GO:00447725 | Cervix | CC | mitotic cell cycle phase transition | 89/2311 | 424/18723 | 2.70e-07 | 1.12e-05 | 89 |
| GO:00075689 | Cervix | CC | aging | 75/2311 | 339/18723 | 2.75e-07 | 1.13e-05 | 75 |
| GO:20000453 | Cervix | CC | regulation of G1/S transition of mitotic cell cycle | 37/2311 | 142/18723 | 6.33e-06 | 1.53e-04 | 37 |
| GO:00000824 | Cervix | CC | G1/S transition of mitotic cell cycle | 49/2311 | 214/18723 | 1.16e-05 | 2.48e-04 | 49 |
| GO:19028062 | Cervix | CC | regulation of cell cycle G1/S phase transition | 41/2311 | 168/18723 | 1.18e-05 | 2.51e-04 | 41 |
| GO:00073466 | Cervix | CC | regulation of mitotic cell cycle | 88/2311 | 457/18723 | 1.26e-05 | 2.60e-04 | 88 |
| GO:19019903 | Cervix | CC | regulation of mitotic cell cycle phase transition | 63/2311 | 299/18723 | 1.27e-05 | 2.60e-04 | 63 |
| GO:00448434 | Cervix | CC | cell cycle G1/S phase transition | 53/2311 | 241/18723 | 1.76e-05 | 3.32e-04 | 53 |
| GO:00075695 | Cervix | CC | cell aging | 34/2311 | 132/18723 | 1.92e-05 | 3.53e-04 | 34 |
| GO:00063257 | Cervix | CC | chromatin organization | 78/2311 | 409/18723 | 5.40e-05 | 8.02e-04 | 78 |
| GO:19019873 | Cervix | CC | regulation of cell cycle phase transition | 74/2311 | 390/18723 | 9.80e-05 | 1.27e-03 | 74 |
| GO:00903981 | Cervix | CC | cellular senescence | 25/2311 | 93/18723 | 1.11e-04 | 1.40e-03 | 25 |
| GO:00513021 | Cervix | CC | regulation of cell division | 39/2311 | 177/18723 | 2.05e-04 | 2.33e-03 | 39 |
| GO:00457862 | Cervix | CC | negative regulation of cell cycle | 67/2311 | 385/18723 | 2.21e-03 | 1.59e-02 | 67 |
| GO:00459302 | Cervix | CC | negative regulation of mitotic cell cycle | 44/2311 | 235/18723 | 3.02e-03 | 1.99e-02 | 44 |
| GO:19019912 | Cervix | CC | negative regulation of mitotic cell cycle phase transition | 35/2311 | 179/18723 | 3.73e-03 | 2.38e-02 | 35 |
| GO:20001341 | Cervix | CC | negative regulation of G1/S transition of mitotic cell cycle | 19/2311 | 84/18723 | 6.02e-03 | 3.43e-02 | 19 |
| GO:00109482 | Cervix | CC | negative regulation of cell cycle process | 51/2311 | 294/18723 | 7.35e-03 | 3.94e-02 | 51 |
| GO:19028071 | Cervix | CC | negative regulation of cell cycle G1/S phase transition | 20/2311 | 93/18723 | 8.80e-03 | 4.50e-02 | 20 |
| GO:00447722 | Liver | HCC | mitotic cell cycle phase transition | 240/7958 | 424/18723 | 2.47e-09 | 6.84e-08 | 240 |
| Page: 1 2 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa0421810 | Cervix | CC | Cellular senescence | 49/1267 | 156/8465 | 1.30e-07 | 1.63e-06 | 9.61e-07 | 49 |
| hsa051657 | Cervix | CC | Human papillomavirus infection | 74/1267 | 331/8465 | 1.70e-04 | 1.02e-03 | 6.03e-04 | 74 |
| hsa041106 | Cervix | CC | Cell cycle | 36/1267 | 157/8465 | 4.94e-03 | 1.67e-02 | 9.86e-03 | 36 |
| hsa0421815 | Cervix | CC | Cellular senescence | 49/1267 | 156/8465 | 1.30e-07 | 1.63e-06 | 9.61e-07 | 49 |
| hsa0516512 | Cervix | CC | Human papillomavirus infection | 74/1267 | 331/8465 | 1.70e-04 | 1.02e-03 | 6.03e-04 | 74 |
| hsa0411013 | Cervix | CC | Cell cycle | 36/1267 | 157/8465 | 4.94e-03 | 1.67e-02 | 9.86e-03 | 36 |
| hsa041102 | Liver | HCC | Cell cycle | 106/4020 | 157/8465 | 2.54e-07 | 3.04e-06 | 1.69e-06 | 106 |
| hsa0421822 | Liver | HCC | Cellular senescence | 102/4020 | 156/8465 | 4.18e-06 | 3.59e-05 | 2.00e-05 | 102 |
| hsa051652 | Liver | HCC | Human papillomavirus infection | 188/4020 | 331/8465 | 3.34e-04 | 1.49e-03 | 8.29e-04 | 188 |
| hsa052032 | Liver | HCC | Viral carcinogenesis | 117/4020 | 204/8465 | 2.68e-03 | 8.98e-03 | 5.00e-03 | 117 |
| hsa041103 | Liver | HCC | Cell cycle | 106/4020 | 157/8465 | 2.54e-07 | 3.04e-06 | 1.69e-06 | 106 |
| hsa0421832 | Liver | HCC | Cellular senescence | 102/4020 | 156/8465 | 4.18e-06 | 3.59e-05 | 2.00e-05 | 102 |
| hsa051653 | Liver | HCC | Human papillomavirus infection | 188/4020 | 331/8465 | 3.34e-04 | 1.49e-03 | 8.29e-04 | 188 |
| hsa052033 | Liver | HCC | Viral carcinogenesis | 117/4020 | 204/8465 | 2.68e-03 | 8.98e-03 | 5.00e-03 | 117 |
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Cell-cell communication analysis |
| Identification of potential cell-cell interactions between two cell types and their ligand-receptor pairs for different disease states |
| Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
| Page: 1 |
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Single-cell gene regulatory network inference analysis |
| Find out the significant the regulons (TFs) and the target genes of each regulon across cell types for different disease states |
| 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. |
| Page: 1 |
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Somatic mutation of malignant transformation related genes |
| Annotation of somatic variants for genes involved in malignant transformation |
| 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 |
| RBL1 | SNV | Missense_Mutation | c.807C>G | p.His269Gln | p.H269Q | P28749 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
| RBL1 | SNV | Missense_Mutation | c.1318N>G | p.Gln440Glu | p.Q440E | P28749 | protein_coding | tolerated(0.41) | benign(0.015) | TCGA-AC-A2B8-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | chemo | PD | |
| RBL1 | SNV | Missense_Mutation | c.1523N>G | p.Ile508Ser | p.I508S | P28749 | protein_coding | deleterious(0) | probably_damaging(0.993) | TCGA-C8-A1HF-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| RBL1 | SNV | Missense_Mutation | c.2194N>C | p.Ile732Leu | p.I732L | P28749 | protein_coding | deleterious(0.04) | benign(0.081) | TCGA-E2-A1L8-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD | |
| RBL1 | SNV | Missense_Mutation | c.3136G>T | p.Val1046Phe | p.V1046F | P28749 | protein_coding | tolerated(0.09) | benign(0.191) | TCGA-E9-A1R5-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD | |
| RBL1 | SNV | Missense_Mutation | c.2559G>C | p.Lys853Asn | p.K853N | P28749 | protein_coding | deleterious(0) | probably_damaging(0.929) | TCGA-E9-A1RH-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | SD | |
| RBL1 | SNV | Missense_Mutation | c.193N>A | p.Val65Ile | p.V65I | P28749 | protein_coding | deleterious(0.01) | possibly_damaging(0.766) | TCGA-EA-A3HT-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD | |
| RBL1 | SNV | Missense_Mutation | c.954N>C | p.Glu318Asp | p.E318D | P28749 | protein_coding | deleterious(0) | probably_damaging(0.99) | TCGA-IR-A3LI-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
| RBL1 | SNV | Missense_Mutation | c.2244G>T | p.Lys748Asn | p.K748N | P28749 | protein_coding | tolerated(0.44) | benign(0.013) | TCGA-JX-A3Q0-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unknown | Unknown | SD | |
| RBL1 | SNV | Missense_Mutation | rs771087993 | c.1166C>T | p.Ser389Leu | p.S389L | P28749 | protein_coding | tolerated(0.1) | benign(0.118) | TCGA-JX-A3Q0-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unknown | Unknown | SD |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 |
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Related drugs of malignant transformation related genes |
| Identification of chemicals and drugs interact with genes involved in malignant transfromation |
| (DGIdb 4.0) |
| Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
| 5933 | RBL1 | ENZYME, TRANSCRIPTION FACTOR COMPLEX | HMBA | 9205091 |
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