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/BLVRA_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/BLVRA_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
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/BLVRA_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
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/BLVRA_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/BLVRA_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:001943921 | Liver | HCC | aromatic compound catabolic process | 309/7958 | 467/18723 | 1.56e-25 | 4.94e-23 | 309 |
GO:0042168 | Liver | HCC | heme metabolic process | 30/7958 | 42/18723 | 1.40e-04 | 1.13e-03 | 30 |
GO:00330131 | Liver | HCC | tetrapyrrole metabolic process | 39/7958 | 59/18723 | 2.14e-04 | 1.63e-03 | 39 |
GO:00067781 | Liver | HCC | porphyrin-containing compound metabolic process | 33/7958 | 49/18723 | 3.86e-04 | 2.62e-03 | 33 |
GO:0042440 | Liver | HCC | pigment metabolic process | 51/7958 | 84/18723 | 5.74e-04 | 3.65e-03 | 51 |
GO:004670015 | Oral cavity | OSCC | heterocycle catabolic process | 254/7305 | 445/18723 | 5.07e-15 | 3.31e-13 | 254 |
GO:004427016 | Oral cavity | OSCC | cellular nitrogen compound catabolic process | 256/7305 | 451/18723 | 9.67e-15 | 5.88e-13 | 256 |
GO:001943915 | Oral cavity | OSCC | aromatic compound catabolic process | 263/7305 | 467/18723 | 1.49e-14 | 8.84e-13 | 263 |
GO:190136115 | Oral cavity | OSCC | organic cyclic compound catabolic process | 272/7305 | 495/18723 | 2.73e-13 | 1.36e-11 | 272 |
GO:001943916 | Oral cavity | LP | aromatic compound catabolic process | 176/4623 | 467/18723 | 1.96e-10 | 1.08e-08 | 176 |
GO:004427017 | Oral cavity | LP | cellular nitrogen compound catabolic process | 170/4623 | 451/18723 | 3.93e-10 | 2.02e-08 | 170 |
GO:004670016 | Oral cavity | LP | heterocycle catabolic process | 168/4623 | 445/18723 | 4.35e-10 | 2.20e-08 | 168 |
GO:190136116 | Oral cavity | LP | organic cyclic compound catabolic process | 180/4623 | 495/18723 | 3.11e-09 | 1.35e-07 | 180 |
GO:0046700110 | Skin | cSCC | heterocycle catabolic process | 178/4864 | 445/18723 | 4.45e-11 | 2.13e-09 | 178 |
GO:0044270110 | Skin | cSCC | cellular nitrogen compound catabolic process | 179/4864 | 451/18723 | 8.34e-11 | 3.79e-09 | 179 |
GO:0019439110 | Skin | cSCC | aromatic compound catabolic process | 183/4864 | 467/18723 | 1.76e-10 | 7.68e-09 | 183 |
GO:1901361110 | Skin | cSCC | organic cyclic compound catabolic process | 188/4864 | 495/18723 | 1.92e-09 | 7.01e-08 | 188 |
GO:0046700111 | Thyroid | PTC | heterocycle catabolic process | 221/5968 | 445/18723 | 2.43e-15 | 1.72e-13 | 221 |
GO:0044270111 | Thyroid | PTC | cellular nitrogen compound catabolic process | 223/5968 | 451/18723 | 3.34e-15 | 2.31e-13 | 223 |
GO:0019439111 | Thyroid | PTC | aromatic compound catabolic process | 225/5968 | 467/18723 | 8.51e-14 | 4.71e-12 | 225 |
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 |
BLVRA | SNV | Missense_Mutation | novel | c.737N>C | p.Val246Ala | p.V246A | P53004 | protein_coding | tolerated(0.78) | benign(0.001) | TCGA-A7-A4SD-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR |
BLVRA | SNV | Missense_Mutation | novel | c.173C>A | p.Ser58Tyr | p.S58Y | P53004 | protein_coding | deleterious(0) | probably_damaging(0.959) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
BLVRA | SNV | Missense_Mutation | | c.704N>G | p.Ser235Cys | p.S235C | P53004 | protein_coding | deleterious(0.05) | probably_damaging(0.996) | TCGA-GM-A2D9-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
BLVRA | SNV | Missense_Mutation | | c.512N>A | p.Ser171Tyr | p.S171Y | P53004 | protein_coding | deleterious(0.01) | probably_damaging(0.992) | TCGA-GM-A2DO-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | CR |
BLVRA | insertion | Nonsense_Mutation | novel | c.428_429insTCCTCCTTGCTCCTGAGGTGCAGGTCAAGCCCAG | p.Lys143AsnfsTer6 | p.K143Nfs*6 | P53004 | protein_coding | | | TCGA-AO-A0JB-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | SD |
BLVRA | insertion | Frame_Shift_Ins | novel | c.448_449insCCAC | p.Leu150ProfsTer69 | p.L150Pfs*69 | P53004 | protein_coding | | | TCGA-BH-A0B8-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | SD |
BLVRA | insertion | Nonsense_Mutation | novel | c.449_450insGCAATTTCTGCCTCCCAGGTTCTAGTGATTCTCCTG | p.Leu150_Leu151insGlnPheLeuProProArgPheTerTerPheSerCys | p.L150_L151insQFLPPRF**FSC | P53004 | protein_coding | | | TCGA-BH-A0B8-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | SD |
BLVRA | SNV | Missense_Mutation | rs183114141 | c.127G>A | p.Val43Met | p.V43M | P53004 | protein_coding | deleterious(0) | possibly_damaging(0.48) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
BLVRA | SNV | Missense_Mutation | | c.478N>C | p.Glu160Gln | p.E160Q | P53004 | protein_coding | tolerated(0.39) | benign(0.188) | TCGA-JW-A5VL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
BLVRA | SNV | Missense_Mutation | rs183114141 | c.127N>T | p.Val43Leu | p.V43L | P53004 | protein_coding | deleterious(0.02) | benign(0.354) | TCGA-A6-6140-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | SD |