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/BPHL_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/BPHL_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/BPHL_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/BPHL_pca_on_diff_genes.png) | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:000941020 | Esophagus | ESCC | response to xenobiotic stimulus | 253/8552 | 462/18723 | 4.55e-05 | 3.58e-04 | 253 |
GO:000963620 | Esophagus | ESCC | response to toxic substance | 150/8552 | 262/18723 | 1.00e-04 | 7.12e-04 | 150 |
GO:00065203 | Liver | NAFLD | cellular amino acid metabolic process | 63/1882 | 284/18723 | 1.14e-09 | 2.17e-07 | 63 |
GO:00094107 | Liver | NAFLD | response to xenobiotic stimulus | 88/1882 | 462/18723 | 2.53e-09 | 4.11e-07 | 88 |
GO:00714663 | Liver | NAFLD | cellular response to xenobiotic stimulus | 33/1882 | 177/18723 | 3.54e-04 | 5.36e-03 | 33 |
GO:00068054 | Liver | NAFLD | xenobiotic metabolic process | 22/1882 | 111/18723 | 1.42e-03 | 1.58e-02 | 22 |
GO:00096367 | Liver | NAFLD | response to toxic substance | 41/1882 | 262/18723 | 2.83e-03 | 2.57e-02 | 41 |
GO:000963612 | Liver | Cirrhotic | response to toxic substance | 104/4634 | 262/18723 | 5.63e-08 | 1.74e-06 | 104 |
GO:000941012 | Liver | Cirrhotic | response to xenobiotic stimulus | 165/4634 | 462/18723 | 6.82e-08 | 2.09e-06 | 165 |
GO:000652011 | Liver | Cirrhotic | cellular amino acid metabolic process | 103/4634 | 284/18723 | 8.88e-06 | 1.30e-04 | 103 |
GO:00714661 | Liver | Cirrhotic | cellular response to xenobiotic stimulus | 66/4634 | 177/18723 | 1.34e-04 | 1.31e-03 | 66 |
GO:000680511 | Liver | Cirrhotic | xenobiotic metabolic process | 43/4634 | 111/18723 | 7.51e-04 | 5.54e-03 | 43 |
GO:00065202 | Liver | HCC | cellular amino acid metabolic process | 167/7958 | 284/18723 | 1.91e-08 | 4.56e-07 | 167 |
GO:000963622 | Liver | HCC | response to toxic substance | 153/7958 | 262/18723 | 1.37e-07 | 2.58e-06 | 153 |
GO:000941022 | Liver | HCC | response to xenobiotic stimulus | 248/7958 | 462/18723 | 6.47e-07 | 1.02e-05 | 248 |
GO:00714662 | Liver | HCC | cellular response to xenobiotic stimulus | 93/7958 | 177/18723 | 4.35e-03 | 1.89e-02 | 93 |
GO:000170116 | Oral cavity | OSCC | in utero embryonic development | 207/7305 | 367/18723 | 7.92e-12 | 2.95e-10 | 207 |
GO:000963618 | Oral cavity | OSCC | response to toxic substance | 137/7305 | 262/18723 | 7.94e-06 | 8.52e-05 | 137 |
GO:000941018 | Oral cavity | OSCC | response to xenobiotic stimulus | 222/7305 | 462/18723 | 4.00e-05 | 3.48e-04 | 222 |
GO:000963619 | Oral cavity | LP | response to toxic substance | 86/4623 | 262/18723 | 1.74e-03 | 1.32e-02 | 86 |
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 |
BPHL | SNV | Missense_Mutation | rs774197466 | c.511G>A | p.Glu171Lys | p.E171K | Q86WA6 | protein_coding | tolerated(0.11) | benign(0.042) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
BPHL | insertion | Frame_Shift_Ins | novel | c.361_362insAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTC | p.Ala121GlufsTer19 | p.A121Efs*19 | Q86WA6 | protein_coding | | | TCGA-AR-A0TY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | PD |
BPHL | insertion | In_Frame_Ins | novel | c.821_822insACTTAG | p.Leu274_His275insLeuArg | p.L274_H275insLR | Q86WA6 | protein_coding | | | TCGA-B6-A0IN-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
BPHL | insertion | Nonsense_Mutation | novel | c.823_824insTTTCATCCTAGAAGCTTTACCACTTTTACTGTTTCT | p.His275delinsLeuSerSerTerLysLeuTyrHisPheTyrCysPheTyr | p.H275delinsLSS*KLYHFYCFY | Q86WA6 | protein_coding | | | TCGA-B6-A0IN-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
BPHL | insertion | Nonsense_Mutation | novel | c.396_397insCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTAT | p.Val133ProfsTer4 | p.V133Pfs*4 | Q86WA6 | protein_coding | | | TCGA-BH-A0B4-01 | Breast | breast invasive carcinoma | Male | >=65 | III/IV | Hormone Therapy | tamoxiphen | SD |
BPHL | SNV | Missense_Mutation | rs151267393 | c.830N>A | p.Arg277His | p.R277H | Q86WA6 | protein_coding | deleterious(0.01) | probably_damaging(0.986) | TCGA-IR-A3LB-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |
BPHL | SNV | Missense_Mutation | novel | c.414N>C | p.Trp138Cys | p.W138C | Q86WA6 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-VS-A8EI-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
BPHL | SNV | Missense_Mutation | | c.793N>T | p.His265Tyr | p.H265Y | Q86WA6 | protein_coding | tolerated(0.28) | benign(0.031) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR |
BPHL | SNV | Missense_Mutation | rs192366834 | c.184G>A | p.Ala62Thr | p.A62T | Q86WA6 | protein_coding | tolerated(0.16) | benign(0.034) | TCGA-DM-A1HB-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | SD |
BPHL | SNV | Missense_Mutation | | c.131N>C | p.Val44Ala | p.V44A | Q86WA6 | protein_coding | tolerated(0.1) | benign(0.017) | TCGA-F4-6570-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |