Tissue | Expression Dynamics | Abbreviation |
Cervix | ![The image shows the 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.](images/deg_images/Cervix/RB1_pca_on_diff_genes.png) | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
Esophagus | ![The image shows the 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.](images/deg_images/Esophagus/RB1_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Oral Cavity | ![The image shows the 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.](images/deg_images/OralCavity/RB1_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Prostate | ![The image shows the 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.](images/deg_images/Prostate/RB1_pca_on_diff_genes.png) | BPH: Benign Prostatic Hyperplasia |
Skin | ![The image shows the 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.](images/deg_images/Skin/RB1_pca_on_diff_genes.png) | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
Thyroid | ![The image shows the 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.](images/deg_images/Thyroid/RB1_pca_on_diff_genes.png) | 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: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 |
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 | novel | c.1152N>C | p.Gln384His | p.Q384H | P06400 | protein_coding | deleterious(0.01) | possibly_damaging(0.836) | TCGA-AJ-A3EL-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RB1 | SNV | Missense_Mutation | novel | c.2078N>C | p.Glu693Ala | p.E693A | P06400 | protein_coding | deleterious(0.02) | probably_damaging(0.971) | TCGA-AJ-A3EL-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RB1 | SNV | Missense_Mutation | | c.712N>T | p.Pro238Ser | p.P238S | P06400 | protein_coding | tolerated(0.41) | possibly_damaging(0.468) | TCGA-AP-A051-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RB1 | SNV | Missense_Mutation | | c.815G>T | p.Arg272Ile | p.R272I | P06400 | protein_coding | tolerated(0.07) | possibly_damaging(0.462) | TCGA-AP-A056-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RB1 | SNV | Missense_Mutation | rs751870680 | c.238A>G | p.Lys80Glu | p.K80E | P06400 | protein_coding | tolerated(0.65) | benign(0.053) | TCGA-AP-A05O-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Chemotherapy | carboplatin | PD |
RB1 | SNV | Missense_Mutation | | c.853N>G | p.Ile285Val | p.I285V | P06400 | protein_coding | tolerated(1) | benign(0) | TCGA-AP-A05P-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RB1 | SNV | Missense_Mutation | rs754814477 | c.2273N>T | p.Ser758Leu | p.S758L | P06400 | protein_coding | tolerated(0.97) | benign(0.003) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
RB1 | SNV | Missense_Mutation | rs201458896 | c.1468N>A | p.Ala490Thr | p.A490T | P06400 | protein_coding | deleterious(0.01) | probably_damaging(0.947) | TCGA-AX-A06F-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
RB1 | SNV | Missense_Mutation | | c.1318G>A | p.Glu440Lys | p.E440K | P06400 | protein_coding | tolerated(0.47) | benign(0.131) | TCGA-AX-A0J0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RB1 | SNV | Missense_Mutation | | c.440N>T | p.Ala147Val | p.A147V | P06400 | protein_coding | tolerated(0.44) | possibly_damaging(0.653) | TCGA-AX-A0J1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
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 |