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/PHF1_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/PHF1_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/PHF1_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
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/PHF1_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:003106013 | Esophagus | ESCC | regulation of histone methylation | 46/8552 | 69/18723 | 3.46e-04 | 2.03e-03 | 46 |
GO:00070761 | Esophagus | ESCC | mitotic chromosome condensation | 15/8552 | 17/18723 | 3.48e-04 | 2.03e-03 | 15 |
GO:001802214 | Esophagus | ESCC | peptidyl-lysine methylation | 79/8552 | 131/18723 | 5.17e-04 | 2.86e-03 | 79 |
GO:003106211 | Esophagus | ESCC | positive regulation of histone methylation | 28/8552 | 41/18723 | 2.88e-03 | 1.21e-02 | 28 |
GO:003105711 | Esophagus | ESCC | negative regulation of histone modification | 29/8552 | 46/18723 | 1.33e-02 | 4.33e-02 | 29 |
GO:00165703 | Liver | NAFLD | histone modification | 90/1882 | 463/18723 | 5.74e-10 | 1.28e-07 | 90 |
GO:0018205 | Liver | NAFLD | peptidyl-lysine modification | 65/1882 | 376/18723 | 9.42e-06 | 3.02e-04 | 65 |
GO:0043543 | Liver | NAFLD | protein acylation | 43/1882 | 243/18723 | 1.70e-04 | 3.07e-03 | 43 |
GO:0006473 | Liver | NAFLD | protein acetylation | 37/1882 | 201/18723 | 2.10e-04 | 3.61e-03 | 37 |
GO:0018394 | Liver | NAFLD | peptidyl-lysine acetylation | 32/1882 | 169/18723 | 3.24e-04 | 5.00e-03 | 32 |
GO:0018393 | Liver | NAFLD | internal peptidyl-lysine acetylation | 28/1882 | 158/18723 | 2.10e-03 | 2.06e-02 | 28 |
GO:0006475 | Liver | NAFLD | internal protein amino acid acetylation | 28/1882 | 160/18723 | 2.54e-03 | 2.36e-02 | 28 |
GO:0016573 | Liver | NAFLD | histone acetylation | 26/1882 | 152/18723 | 4.85e-03 | 3.84e-02 | 26 |
GO:00064731 | Liver | Cirrhotic | protein acetylation | 84/4634 | 201/18723 | 7.50e-08 | 2.25e-06 | 84 |
GO:00183941 | Liver | Cirrhotic | peptidyl-lysine acetylation | 73/4634 | 169/18723 | 1.08e-07 | 3.07e-06 | 73 |
GO:00435431 | Liver | Cirrhotic | protein acylation | 95/4634 | 243/18723 | 4.73e-07 | 1.07e-05 | 95 |
GO:00182051 | Liver | Cirrhotic | peptidyl-lysine modification | 134/4634 | 376/18723 | 1.29e-06 | 2.59e-05 | 134 |
GO:00064751 | Liver | Cirrhotic | internal protein amino acid acetylation | 65/4634 | 160/18723 | 6.66e-06 | 1.04e-04 | 65 |
GO:00183931 | Liver | Cirrhotic | internal peptidyl-lysine acetylation | 64/4634 | 158/18723 | 8.75e-06 | 1.29e-04 | 64 |
GO:001657011 | Liver | Cirrhotic | histone modification | 154/4634 | 463/18723 | 1.92e-05 | 2.57e-04 | 154 |
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 |
PHF1 | SNV | Missense_Mutation | novel | c.938A>G | p.Lys313Arg | p.K313R | O43189 | protein_coding | deleterious(0.03) | possibly_damaging(0.757) | TCGA-A7-A4SE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | CR |
PHF1 | SNV | Missense_Mutation | rs767831440 | c.748C>T | p.Arg250Cys | p.R250C | O43189 | protein_coding | deleterious(0) | possibly_damaging(0.725) | TCGA-AC-A3W6-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
PHF1 | SNV | Missense_Mutation | rs759664324 | c.314T>G | p.Val105Gly | p.V105G | O43189 | protein_coding | deleterious(0) | benign(0.386) | TCGA-AN-A0AT-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PHF1 | SNV | Missense_Mutation | novel | c.188N>G | p.Val63Gly | p.V63G | O43189 | protein_coding | deleterious(0) | possibly_damaging(0.829) | TCGA-AO-A1KT-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | fluorouracil | SD |
PHF1 | SNV | Missense_Mutation | rs368297880 | c.41N>T | p.Ser14Leu | p.S14L | O43189 | protein_coding | tolerated_low_confidence(0.13) | benign(0) | TCGA-BH-A2L8-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | CR |
PHF1 | insertion | Frame_Shift_Ins | novel | c.844_845insTTATCACCAGGACTGCCATGTTCCCAGGG | p.Ser282PhefsTer105 | p.S282Ffs*105 | O43189 | protein_coding | | | TCGA-AN-A0FN-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PHF1 | deletion | Frame_Shift_Del | novel | c.237delN | p.Pro80LeufsTer72 | p.P80Lfs*72 | O43189 | protein_coding | | | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD |
PHF1 | insertion | Frame_Shift_Ins | novel | c.456_457insA | p.Tyr156LeufsTer58 | p.Y156Lfs*58 | O43189 | protein_coding | | | TCGA-OL-A66P-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cytoxan | CR |
PHF1 | SNV | Missense_Mutation | rs779056192 | c.445G>T | p.Gly149Cys | p.G149C | O43189 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
PHF1 | SNV | Missense_Mutation | novel | c.691N>C | p.Glu231Gln | p.E231Q | O43189 | protein_coding | tolerated(0.13) | benign(0.021) | TCGA-VS-A958-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |