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Gene: RB1 |
Gene summary for RB1 |
Gene summary. |
Gene information | Species | Human | Gene symbol | RB1 | Gene ID | 5925 |
Gene name | RB transcriptional corepressor 1 | |
Gene Alias | OSRC | |
Cytomap | 13q14.2 | |
Gene Type | protein-coding | GO ID | GO:0000070 | UniProtAcc | A0A024RDV3 |
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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 |
5925 | RB1 | CA_HPV_2 | Human | Cervix | CC | 5.90e-03 | 2.31e-01 | 0.0391 |
5925 | RB1 | HSIL_HPV_2 | Human | Cervix | HSIL_HPV | 2.45e-08 | 2.89e-01 | 0.0208 |
5925 | RB1 | CCI_1 | Human | Cervix | CC | 1.70e-05 | 1.01e+00 | 0.528 |
5925 | RB1 | CCI_2 | Human | Cervix | CC | 2.43e-16 | 1.55e+00 | 0.5249 |
5925 | RB1 | CCI_3 | Human | Cervix | CC | 7.08e-16 | 1.26e+00 | 0.516 |
5925 | RB1 | LZE4T | Human | Esophagus | ESCC | 1.41e-06 | 2.30e-01 | 0.0811 |
5925 | RB1 | LZE20T | Human | Esophagus | ESCC | 3.33e-08 | 2.01e-01 | 0.0662 |
5925 | RB1 | LZE22T | Human | Esophagus | ESCC | 7.01e-03 | 2.65e-01 | 0.068 |
5925 | RB1 | LZE24T | Human | Esophagus | ESCC | 1.92e-06 | 2.47e-01 | 0.0596 |
5925 | RB1 | LZE21T | Human | Esophagus | ESCC | 4.46e-06 | 3.19e-01 | 0.0655 |
5925 | RB1 | P1T-E | Human | Esophagus | ESCC | 2.26e-11 | 5.87e-01 | 0.0875 |
5925 | RB1 | P2T-E | Human | Esophagus | ESCC | 7.15e-28 | 5.76e-01 | 0.1177 |
5925 | RB1 | P4T-E | Human | Esophagus | ESCC | 6.05e-13 | 1.41e-01 | 0.1323 |
5925 | RB1 | P5T-E | Human | Esophagus | ESCC | 3.88e-21 | 2.39e-01 | 0.1327 |
5925 | RB1 | P8T-E | Human | Esophagus | ESCC | 6.67e-29 | 4.91e-01 | 0.0889 |
5925 | RB1 | P9T-E | Human | Esophagus | ESCC | 5.40e-22 | 3.55e-01 | 0.1131 |
5925 | RB1 | P10T-E | Human | Esophagus | ESCC | 2.89e-14 | 3.22e-01 | 0.116 |
5925 | RB1 | P11T-E | Human | Esophagus | ESCC | 2.92e-08 | 2.26e-01 | 0.1426 |
5925 | RB1 | P12T-E | Human | Esophagus | ESCC | 1.16e-18 | 2.51e-01 | 0.1122 |
5925 | RB1 | P15T-E | Human | Esophagus | ESCC | 1.98e-20 | 4.79e-01 | 0.1149 |
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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. |
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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). |
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Enriched GO biological processes. |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00160329 | Breast | Precancer | viral process | 58/1080 | 415/18723 | 3.42e-10 | 3.16e-08 | 58 |
GO:00190589 | Breast | Precancer | viral life cycle | 47/1080 | 317/18723 | 2.42e-09 | 1.99e-07 | 47 |
GO:00444039 | Breast | Precancer | biological process involved in symbiotic interaction | 42/1080 | 290/18723 | 3.40e-08 | 2.11e-06 | 42 |
GO:00521269 | Breast | Precancer | movement in host environment | 29/1080 | 175/18723 | 2.59e-07 | 1.28e-05 | 29 |
GO:00457859 | Breast | Precancer | positive regulation of cell adhesion | 52/1080 | 437/18723 | 5.74e-07 | 2.49e-05 | 52 |
GO:00517019 | Breast | Precancer | biological process involved in interaction with host | 31/1080 | 203/18723 | 6.52e-07 | 2.71e-05 | 31 |
GO:00507929 | Breast | Precancer | regulation of viral process | 27/1080 | 164/18723 | 7.59e-07 | 3.05e-05 | 27 |
GO:00444099 | Breast | Precancer | entry into host | 25/1080 | 151/18723 | 1.74e-06 | 6.19e-05 | 25 |
GO:00467189 | Breast | Precancer | viral entry into host cell | 24/1080 | 144/18723 | 2.46e-06 | 8.35e-05 | 24 |
GO:00300999 | Breast | Precancer | myeloid cell differentiation | 45/1080 | 381/18723 | 4.00e-06 | 1.25e-04 | 45 |
GO:00024839 | Breast | Precancer | antigen processing and presentation of endogenous peptide antigen | 8/1080 | 19/18723 | 5.10e-06 | 1.53e-04 | 8 |
GO:00198839 | Breast | Precancer | antigen processing and presentation of endogenous antigen | 9/1080 | 26/18723 | 8.75e-06 | 2.34e-04 | 9 |
GO:00439039 | Breast | Precancer | regulation of biological process involved in symbiotic interaction | 15/1080 | 72/18723 | 1.23e-05 | 3.17e-04 | 15 |
GO:0050727 | Breast | Precancer | regulation of inflammatory response | 44/1080 | 386/18723 | 1.26e-05 | 3.22e-04 | 44 |
GO:19039009 | Breast | Precancer | regulation of viral life cycle | 23/1080 | 148/18723 | 1.31e-05 | 3.30e-04 | 23 |
GO:00421107 | Breast | Precancer | T cell activation | 52/1080 | 487/18723 | 1.37e-05 | 3.42e-04 | 52 |
GO:00523727 | Breast | Precancer | modulation by symbiont of entry into host | 12/1080 | 49/18723 | 1.61e-05 | 3.93e-04 | 12 |
GO:00465964 | Breast | Precancer | regulation of viral entry into host cell | 11/1080 | 42/18723 | 1.83e-05 | 4.35e-04 | 11 |
GO:00508707 | Breast | Precancer | positive regulation of T cell activation | 29/1080 | 216/18723 | 1.94e-05 | 4.58e-04 | 29 |
GO:00456379 | Breast | Precancer | regulation of myeloid cell differentiation | 28/1080 | 210/18723 | 3.05e-05 | 6.72e-04 | 28 |
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Enriched KEGG pathways. |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0516720 | Cervix | CC | Kaposi sarcoma-associated herpesvirus infection | 60/1267 | 194/8465 | 9.74e-09 | 1.58e-07 | 9.33e-08 | 60 |
hsa0516318 | Cervix | CC | Human cytomegalovirus infection | 65/1267 | 225/8465 | 4.59e-08 | 6.47e-07 | 3.83e-07 | 65 |
hsa0421810 | Cervix | CC | Cellular senescence | 49/1267 | 156/8465 | 1.30e-07 | 1.63e-06 | 9.61e-07 | 49 |
hsa0516920 | Cervix | CC | Epstein-Barr virus infection | 57/1267 | 202/8465 | 7.30e-07 | 7.39e-06 | 4.37e-06 | 57 |
hsa0516620 | Cervix | CC | Human T-cell leukemia virus 1 infection | 61/1267 | 222/8465 | 8.13e-07 | 7.98e-06 | 4.72e-06 | 61 |
hsa052226 | Cervix | CC | Small cell lung cancer | 29/1267 | 92/8465 | 4.38e-05 | 3.09e-04 | 1.83e-04 | 29 |
hsa052197 | Cervix | CC | Bladder cancer | 16/1267 | 41/8465 | 1.45e-04 | 9.05e-04 | 5.35e-04 | 16 |
hsa052148 | Cervix | CC | Glioma | 24/1267 | 75/8465 | 1.51e-04 | 9.20e-04 | 5.44e-04 | 24 |
hsa051657 | Cervix | CC | Human papillomavirus infection | 74/1267 | 331/8465 | 1.70e-04 | 1.02e-03 | 6.03e-04 | 74 |
hsa052128 | Cervix | CC | Pancreatic cancer | 24/1267 | 76/8465 | 1.89e-04 | 1.11e-03 | 6.55e-04 | 24 |
hsa015223 | Cervix | CC | Endocrine resistance | 28/1267 | 98/8465 | 3.82e-04 | 1.87e-03 | 1.11e-03 | 28 |
hsa052157 | Cervix | CC | Prostate cancer | 27/1267 | 97/8465 | 7.54e-04 | 3.39e-03 | 2.01e-03 | 27 |
hsa052234 | Cervix | CC | Non-small cell lung cancer | 21/1267 | 72/8465 | 1.48e-03 | 6.32e-03 | 3.74e-03 | 21 |
hsa0522510 | Cervix | CC | Hepatocellular carcinoma | 40/1267 | 168/8465 | 1.52e-03 | 6.39e-03 | 3.78e-03 | 40 |
hsa0522014 | Cervix | CC | Chronic myeloid leukemia | 21/1267 | 76/8465 | 3.08e-03 | 1.19e-02 | 7.03e-03 | 21 |
hsa041106 | Cervix | CC | Cell cycle | 36/1267 | 157/8465 | 4.94e-03 | 1.67e-02 | 9.86e-03 | 36 |
hsa05224 | Cervix | CC | Breast cancer | 32/1267 | 147/8465 | 1.66e-02 | 4.88e-02 | 2.88e-02 | 32 |
hsa05167110 | Cervix | CC | Kaposi sarcoma-associated herpesvirus infection | 60/1267 | 194/8465 | 9.74e-09 | 1.58e-07 | 9.33e-08 | 60 |
hsa0516319 | Cervix | CC | Human cytomegalovirus infection | 65/1267 | 225/8465 | 4.59e-08 | 6.47e-07 | 3.83e-07 | 65 |
hsa0421815 | Cervix | CC | Cellular senescence | 49/1267 | 156/8465 | 1.30e-07 | 1.63e-06 | 9.61e-07 | 49 |
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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 |
CLEC2D | KLRB1 | CLEC2D_KLRB1 | CLEC | Breast | ADJ |
CLEC2B | KLRB1 | CLEC2B_KLRB1 | CLEC | Breast | ADJ |
CD69 | KLRB1 | CLEC2C_KLRB1 | CLEC | Breast | ADJ |
HLA-F | LILRB1 | HLA-F_LILRB1 | MHC-I | Breast | DCIS |
CLEC2D | KLRB1 | CLEC2D_KLRB1 | CLEC | Breast | DCIS |
CLEC2B | KLRB1 | CLEC2B_KLRB1 | CLEC | Breast | DCIS |
CD69 | KLRB1 | CLEC2C_KLRB1 | CLEC | Breast | DCIS |
HLA-F | LILRB1 | HLA-F_LILRB1 | MHC-I | Breast | Healthy |
CLEC2D | KLRB1 | CLEC2D_KLRB1 | CLEC | Breast | Healthy |
CLEC2B | KLRB1 | CLEC2B_KLRB1 | CLEC | Breast | Healthy |
CD69 | KLRB1 | CLEC2C_KLRB1 | CLEC | Breast | Healthy |
CLEC2D | KLRB1 | CLEC2D_KLRB1 | CLEC | Breast | IDC |
CLEC2B | KLRB1 | CLEC2B_KLRB1 | CLEC | Breast | IDC |
CD69 | KLRB1 | CLEC2C_KLRB1 | CLEC | Breast | IDC |
CLEC2D | KLRB1 | CLEC2D_KLRB1 | CLEC | Breast | Precancer |
CLEC2B | KLRB1 | CLEC2B_KLRB1 | CLEC | Breast | Precancer |
CD69 | KLRB1 | CLEC2C_KLRB1 | CLEC | Breast | Precancer |
CLEC2D | KLRB1 | CLEC2D_KLRB1 | CLEC | Cervix | ADJ |
CLEC2B | KLRB1 | CLEC2B_KLRB1 | CLEC | Cervix | ADJ |
CD69 | KLRB1 | CLEC2C_KLRB1 | CLEC | Cervix | ADJ |
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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 |
RB1 | CHIEF | Stomach | CAG with IM | HNRNPUL1,AL158152.1,DOP1B, etc. | 5.03e-01 |
∗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 |
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 |
RB1 | SNV | Missense_Mutation | c.1001N>A | p.Arg334Lys | p.R334K | P06400 | protein_coding | deleterious(0.01) | probably_damaging(0.945) | TCGA-A1-A0SI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
RB1 | SNV | Missense_Mutation | c.522G>T | p.Leu174Phe | p.L174F | P06400 | protein_coding | tolerated(0.66) | benign(0.163) | TCGA-BH-A0HI-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD | |
RB1 | SNV | Missense_Mutation | c.764N>A | p.Arg255Gln | p.R255Q | P06400 | protein_coding | tolerated(0.06) | probably_damaging(0.963) | TCGA-D8-A1XQ-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
RB1 | SNV | Missense_Mutation | novel | c.1648N>A | p.Leu550Ile | p.L550I | P06400 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-E2-A159-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
RB1 | SNV | Missense_Mutation | novel | c.182N>A | p.Cys61Tyr | p.C61Y | P06400 | protein_coding | deleterious(0) | probably_damaging(0.956) | TCGA-E9-A3HO-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | CR |
RB1 | SNV | Missense_Mutation | novel | c.2081N>C | p.Leu694Pro | p.L694P | P06400 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-S3-AA0Z-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Ancillary | neulasta | CR |
RB1 | SNV | Missense_Mutation | novel | c.863N>A | p.Val288Glu | p.V288E | P06400 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-S3-AA10-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cytoxan | CR |
RB1 | deletion | Frame_Shift_Del | novel | c.2595delN | p.Ser866AlafsTer7 | p.S866Afs*7 | P06400 | protein_coding | TCGA-A7-A3RF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | PD | ||
RB1 | insertion | Frame_Shift_Ins | novel | c.210_211insAG | p.Ala74GlufsTer4 | p.A74Efs*4 | P06400 | protein_coding | TCGA-BH-A0BW-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | adriamycin | CR | ||
RB1 | insertion | Frame_Shift_Ins | novel | c.2026_2027insTAGAACA | p.Ile679ArgfsTer15 | p.I679Rfs*15 | P06400 | protein_coding | TCGA-D8-A143-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
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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 |
5925 | RB1 | CLINICALLY ACTIONABLE, DRUGGABLE GENOME, DRUG RESISTANCE, KINASE, TRANSCRIPTION FACTOR, TUMOR SUPPRESSOR, TRANSCRIPTION FACTOR COMPLEX | Trilaciclib | TRILACICLIB | 26826116 | |
5925 | RB1 | CLINICALLY ACTIONABLE, DRUGGABLE GENOME, DRUG RESISTANCE, KINASE, TRANSCRIPTION FACTOR, TUMOR SUPPRESSOR, TRANSCRIPTION FACTOR COMPLEX | Entinostat | ENTINOSTAT | 18483379,23498719 | |
5925 | RB1 | CLINICALLY ACTIONABLE, DRUGGABLE GENOME, DRUG RESISTANCE, KINASE, TRANSCRIPTION FACTOR, TUMOR SUPPRESSOR, TRANSCRIPTION FACTOR COMPLEX | Vorinostat | VORINOSTAT | 18483379,23498719 | |
5925 | RB1 | CLINICALLY ACTIONABLE, DRUGGABLE GENOME, DRUG RESISTANCE, KINASE, TRANSCRIPTION FACTOR, TUMOR SUPPRESSOR, TRANSCRIPTION FACTOR COMPLEX | PF-06463922 | LORLATINIB | 28285684 | |
5925 | RB1 | CLINICALLY ACTIONABLE, DRUGGABLE GENOME, DRUG RESISTANCE, KINASE, TRANSCRIPTION FACTOR, TUMOR SUPPRESSOR, TRANSCRIPTION FACTOR COMPLEX | Asparaginase | ASPARAGINASE | 28151717 | |
5925 | RB1 | CLINICALLY ACTIONABLE, DRUGGABLE GENOME, DRUG RESISTANCE, KINASE, TRANSCRIPTION FACTOR, TUMOR SUPPRESSOR, TRANSCRIPTION FACTOR COMPLEX | BAY 61-3606 | 22237022 | ||
5925 | RB1 | CLINICALLY ACTIONABLE, DRUGGABLE GENOME, DRUG RESISTANCE, KINASE, TRANSCRIPTION FACTOR, TUMOR SUPPRESSOR, TRANSCRIPTION FACTOR COMPLEX | RIBOCICLIB | RIBOCICLIB | 29236940 | |
5925 | RB1 | CLINICALLY ACTIONABLE, DRUGGABLE GENOME, DRUG RESISTANCE, KINASE, TRANSCRIPTION FACTOR, TUMOR SUPPRESSOR, TRANSCRIPTION FACTOR COMPLEX | Bortezomib | BORTEZOMIB | 28151717 | |
5925 | RB1 | CLINICALLY ACTIONABLE, DRUGGABLE GENOME, DRUG RESISTANCE, KINASE, TRANSCRIPTION FACTOR, TUMOR SUPPRESSOR, TRANSCRIPTION FACTOR COMPLEX | R547 | 17121911 | ||
5925 | RB1 | CLINICALLY ACTIONABLE, DRUGGABLE GENOME, DRUG RESISTANCE, KINASE, TRANSCRIPTION FACTOR, TUMOR SUPPRESSOR, TRANSCRIPTION FACTOR COMPLEX | JQ1 | 28151717 |
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