Tissue | Expression Dynamics | Abbreviation |
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/RB1CC1_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Liver | ![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/Liver/RB1CC1_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Lung | ![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/Lung/RB1CC1_pca_on_diff_genes.png) | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
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/RB1CC1_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/RB1CC1_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/RB1CC1_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/RB1CC1_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:000609120 | Esophagus | HGIN | generation of precursor metabolites and energy | 145/2587 | 490/18723 | 3.41e-20 | 2.04e-17 | 145 |
GO:001598020 | Esophagus | HGIN | energy derivation by oxidation of organic compounds | 105/2587 | 318/18723 | 1.16e-18 | 4.99e-16 | 105 |
GO:200123327 | Esophagus | HGIN | regulation of apoptotic signaling pathway | 97/2587 | 356/18723 | 1.36e-11 | 1.57e-09 | 97 |
GO:001623616 | Esophagus | HGIN | macroautophagy | 77/2587 | 291/18723 | 7.15e-09 | 4.61e-07 | 77 |
GO:002241120 | Esophagus | HGIN | cellular component disassembly | 102/2587 | 443/18723 | 8.31e-08 | 4.33e-06 | 102 |
GO:200123427 | Esophagus | HGIN | negative regulation of apoptotic signaling pathway | 59/2587 | 224/18723 | 4.68e-07 | 2.07e-05 | 59 |
GO:19030089 | Esophagus | HGIN | organelle disassembly | 36/2587 | 114/18723 | 8.60e-07 | 3.58e-05 | 36 |
GO:009719126 | Esophagus | HGIN | extrinsic apoptotic signaling pathway | 56/2587 | 219/18723 | 2.48e-06 | 8.80e-05 | 56 |
GO:000042216 | Esophagus | HGIN | autophagy of mitochondrion | 25/2587 | 81/18723 | 5.95e-05 | 1.38e-03 | 25 |
GO:006172616 | Esophagus | HGIN | mitochondrion disassembly | 25/2587 | 81/18723 | 5.95e-05 | 1.38e-03 | 25 |
GO:00070336 | Esophagus | HGIN | vacuole organization | 44/2587 | 180/18723 | 8.97e-05 | 1.96e-03 | 44 |
GO:004873225 | Esophagus | HGIN | gland development | 88/2587 | 436/18723 | 1.34e-04 | 2.71e-03 | 88 |
GO:19050375 | Esophagus | HGIN | autophagosome organization | 28/2587 | 103/18723 | 2.58e-04 | 4.53e-03 | 28 |
GO:006100820 | Esophagus | HGIN | hepaticobiliary system development | 37/2587 | 150/18723 | 2.58e-04 | 4.53e-03 | 37 |
GO:000188920 | Esophagus | HGIN | liver development | 36/2587 | 147/18723 | 3.61e-04 | 5.68e-03 | 36 |
GO:200123626 | Esophagus | HGIN | regulation of extrinsic apoptotic signaling pathway | 36/2587 | 151/18723 | 6.20e-04 | 8.58e-03 | 36 |
GO:00000455 | Esophagus | HGIN | autophagosome assembly | 26/2587 | 99/18723 | 7.45e-04 | 9.90e-03 | 26 |
GO:00619128 | Esophagus | HGIN | selective autophagy | 19/2587 | 68/18723 | 1.68e-03 | 1.85e-02 | 19 |
GO:200123725 | Esophagus | HGIN | negative regulation of extrinsic apoptotic signaling pathway | 23/2587 | 97/18723 | 5.91e-03 | 4.78e-02 | 23 |
GO:2001233111 | Esophagus | ESCC | regulation of apoptotic signaling pathway | 256/8552 | 356/18723 | 4.11e-24 | 1.04e-21 | 256 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0501630 | Esophagus | HGIN | Huntington disease | 129/1383 | 306/8465 | 6.81e-28 | 7.41e-26 | 5.88e-26 | 129 |
hsa0501430 | Esophagus | HGIN | Amyotrophic lateral sclerosis | 140/1383 | 364/8465 | 2.13e-25 | 1.16e-23 | 9.19e-24 | 140 |
hsa0502230 | Esophagus | HGIN | Pathways of neurodegeneration - multiple diseases | 153/1383 | 476/8465 | 1.22e-18 | 4.41e-17 | 3.50e-17 | 153 |
hsa0501030 | Esophagus | HGIN | Alzheimer disease | 130/1383 | 384/8465 | 5.26e-18 | 1.71e-16 | 1.36e-16 | 130 |
hsa0501727 | Esophagus | HGIN | Spinocerebellar ataxia | 43/1383 | 143/8465 | 2.68e-05 | 3.64e-04 | 2.89e-04 | 43 |
hsa05016113 | Esophagus | HGIN | Huntington disease | 129/1383 | 306/8465 | 6.81e-28 | 7.41e-26 | 5.88e-26 | 129 |
hsa05014113 | Esophagus | HGIN | Amyotrophic lateral sclerosis | 140/1383 | 364/8465 | 2.13e-25 | 1.16e-23 | 9.19e-24 | 140 |
hsa05022113 | Esophagus | HGIN | Pathways of neurodegeneration - multiple diseases | 153/1383 | 476/8465 | 1.22e-18 | 4.41e-17 | 3.50e-17 | 153 |
hsa05010113 | Esophagus | HGIN | Alzheimer disease | 130/1383 | 384/8465 | 5.26e-18 | 1.71e-16 | 1.36e-16 | 130 |
hsa05017112 | Esophagus | HGIN | Spinocerebellar ataxia | 43/1383 | 143/8465 | 2.68e-05 | 3.64e-04 | 2.89e-04 | 43 |
hsa05014210 | Esophagus | ESCC | Amyotrophic lateral sclerosis | 266/4205 | 364/8465 | 1.31e-20 | 2.20e-18 | 1.13e-18 | 266 |
hsa05016210 | Esophagus | ESCC | Huntington disease | 226/4205 | 306/8465 | 1.38e-18 | 8.72e-17 | 4.46e-17 | 226 |
hsa05022210 | Esophagus | ESCC | Pathways of neurodegeneration - multiple diseases | 318/4205 | 476/8465 | 6.10e-15 | 2.04e-13 | 1.05e-13 | 318 |
hsa05010210 | Esophagus | ESCC | Alzheimer disease | 263/4205 | 384/8465 | 1.80e-14 | 5.47e-13 | 2.80e-13 | 263 |
hsa0414010 | Esophagus | ESCC | Autophagy - animal | 101/4205 | 141/8465 | 7.60e-08 | 6.21e-07 | 3.18e-07 | 101 |
hsa0501728 | Esophagus | ESCC | Spinocerebellar ataxia | 94/4205 | 143/8465 | 6.77e-05 | 2.90e-04 | 1.48e-04 | 94 |
hsa0421114 | Esophagus | ESCC | Longevity regulating pathway | 58/4205 | 89/8465 | 2.19e-03 | 6.16e-03 | 3.16e-03 | 58 |
hsa0501438 | Esophagus | ESCC | Amyotrophic lateral sclerosis | 266/4205 | 364/8465 | 1.31e-20 | 2.20e-18 | 1.13e-18 | 266 |
hsa0501638 | Esophagus | ESCC | Huntington disease | 226/4205 | 306/8465 | 1.38e-18 | 8.72e-17 | 4.46e-17 | 226 |
hsa0502238 | Esophagus | ESCC | Pathways of neurodegeneration - multiple diseases | 318/4205 | 476/8465 | 6.10e-15 | 2.04e-13 | 1.05e-13 | 318 |
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 |
RB1CC1 | SNV | Missense_Mutation | novel | c.2344G>A | p.Val782Ile | p.V782I | Q8TDY2 | protein_coding | tolerated_low_confidence(1) | benign(0) | TCGA-95-7562-01 | Lung | lung adenocarcinoma | Male | >=65 | I/II | Chemotherapy | cisplatin | SD |
RB1CC1 | SNV | Missense_Mutation | | c.4565N>G | p.Thr1522Ser | p.T1522S | Q8TDY2 | protein_coding | tolerated(0.12) | possibly_damaging(0.806) | TCGA-97-A4M3-01 | Lung | lung adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
RB1CC1 | SNV | Missense_Mutation | | c.4298G>T | p.Arg1433Ile | p.R1433I | Q8TDY2 | protein_coding | tolerated(0.12) | benign(0.365) | TCGA-97-A4M7-01 | Lung | lung adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
RB1CC1 | SNV | Missense_Mutation | novel | c.4181G>T | p.Ser1394Ile | p.S1394I | Q8TDY2 | protein_coding | deleterious(0.04) | benign(0.117) | TCGA-L9-A444-01 | Lung | lung adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RB1CC1 | SNV | Missense_Mutation | novel | c.707N>T | p.Arg236Ile | p.R236I | Q8TDY2 | protein_coding | deleterious(0.02) | benign(0.015) | TCGA-MN-A4N1-01 | Lung | lung adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
RB1CC1 | SNV | Missense_Mutation | novel | c.199N>T | p.Asp67Tyr | p.D67Y | Q8TDY2 | protein_coding | deleterious(0) | probably_damaging(0.95) | TCGA-MP-A4T4-01 | Lung | lung adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RB1CC1 | SNV | Missense_Mutation | novel | c.1915C>A | p.Gln639Lys | p.Q639K | Q8TDY2 | protein_coding | tolerated_low_confidence(0.11) | benign(0.175) | TCGA-22-A5C4-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
RB1CC1 | SNV | Missense_Mutation | | c.2149N>A | p.Val717Ile | p.V717I | Q8TDY2 | protein_coding | deleterious_low_confidence(0.03) | benign(0.01) | TCGA-34-5239-01 | Lung | lung squamous cell carcinoma | Male | >=65 | III/IV | Chemotherapy | taxotere | SD |
RB1CC1 | SNV | Missense_Mutation | novel | c.3361N>T | p.Gly1121Cys | p.G1121C | Q8TDY2 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.921) | TCGA-37-4130-01 | Lung | lung squamous cell carcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
RB1CC1 | SNV | Missense_Mutation | novel | c.3092N>T | p.Ser1031Phe | p.S1031F | Q8TDY2 | protein_coding | deleterious_low_confidence(0.02) | possibly_damaging(0.823) | TCGA-39-5011-01 | Lung | lung squamous cell carcinoma | Female | >=65 | I/II | Chemotherapy | taxol | SD |