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:00357735 | Endometrium | AEH | insulin secretion involved in cellular response to glucose stimulus | 19/2100 | 73/18723 | 3.31e-04 | 3.69e-03 | 19 |
GO:004800215 | Endometrium | AEH | antigen processing and presentation of peptide antigen | 17/2100 | 62/18723 | 3.46e-04 | 3.80e-03 | 17 |
GO:00025049 | Endometrium | AEH | antigen processing and presentation of peptide or polysaccharide antigen via MHC class II | 12/2100 | 36/18723 | 3.63e-04 | 3.96e-03 | 12 |
GO:190370614 | Endometrium | AEH | regulation of hemopoiesis | 63/2100 | 367/18723 | 3.81e-04 | 4.10e-03 | 63 |
GO:00507087 | Endometrium | AEH | regulation of protein secretion | 49/2100 | 268/18723 | 3.83e-04 | 4.12e-03 | 49 |
GO:00508709 | Endometrium | AEH | positive regulation of T cell activation | 41/2100 | 216/18723 | 5.08e-04 | 5.18e-03 | 41 |
GO:00071599 | Endometrium | AEH | leukocyte cell-cell adhesion | 63/2100 | 371/18723 | 5.11e-04 | 5.21e-03 | 63 |
GO:004563716 | Endometrium | AEH | regulation of myeloid cell differentiation | 40/2100 | 210/18723 | 5.49e-04 | 5.52e-03 | 40 |
GO:00508639 | Endometrium | AEH | regulation of T cell activation | 57/2100 | 329/18723 | 5.58e-04 | 5.59e-03 | 57 |
GO:00027645 | Endometrium | AEH | immune response-regulating signaling pathway | 76/2100 | 468/18723 | 5.76e-04 | 5.71e-03 | 76 |
GO:004852410 | Endometrium | AEH | positive regulation of viral process | 17/2100 | 65/18723 | 6.30e-04 | 6.16e-03 | 17 |
GO:00523729 | Endometrium | AEH | modulation by symbiont of entry into host | 14/2100 | 49/18723 | 7.19e-04 | 6.90e-03 | 14 |
GO:00320246 | Endometrium | AEH | positive regulation of insulin secretion | 19/2100 | 78/18723 | 8.09e-04 | 7.62e-03 | 19 |
GO:19030379 | Endometrium | AEH | regulation of leukocyte cell-cell adhesion | 57/2100 | 336/18723 | 9.42e-04 | 8.57e-03 | 57 |
GO:00508525 | Endometrium | AEH | T cell receptor signaling pathway | 26/2100 | 123/18723 | 1.03e-03 | 9.15e-03 | 26 |
GO:00507149 | Endometrium | AEH | positive regulation of protein secretion | 28/2100 | 137/18723 | 1.17e-03 | 1.01e-02 | 28 |
GO:001988216 | Endometrium | AEH | antigen processing and presentation | 23/2100 | 106/18723 | 1.36e-03 | 1.15e-02 | 23 |
GO:00357743 | Endometrium | AEH | positive regulation of insulin secretion involved in cellular response to glucose stimulus | 11/2100 | 36/18723 | 1.44e-03 | 1.20e-02 | 11 |
GO:003009916 | Endometrium | AEH | myeloid cell differentiation | 62/2100 | 381/18723 | 1.67e-03 | 1.36e-02 | 62 |
GO:00465966 | Endometrium | AEH | regulation of viral entry into host cell | 12/2100 | 42/18723 | 1.70e-03 | 1.37e-02 | 12 |
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 |
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 |