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/PHF23_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/PHF23_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/PHF23_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/PHF23_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:19050374 | Oral cavity | OSCC | autophagosome organization | 63/7305 | 103/18723 | 4.30e-06 | 4.98e-05 | 63 |
GO:00000454 | Oral cavity | OSCC | autophagosome assembly | 60/7305 | 99/18723 | 1.09e-05 | 1.14e-04 | 60 |
GO:00440883 | Oral cavity | OSCC | regulation of vacuole organization | 31/7305 | 45/18723 | 4.70e-05 | 3.95e-04 | 31 |
GO:00973522 | Oral cavity | OSCC | autophagosome maturation | 28/7305 | 40/18723 | 7.00e-05 | 5.60e-04 | 28 |
GO:00105075 | Oral cavity | OSCC | negative regulation of autophagy | 51/7305 | 85/18723 | 7.08e-05 | 5.62e-04 | 51 |
GO:20007852 | Oral cavity | OSCC | regulation of autophagosome assembly | 26/7305 | 39/18723 | 4.33e-04 | 2.63e-03 | 26 |
GO:00162421 | Oral cavity | OSCC | negative regulation of macroautophagy | 23/7305 | 34/18723 | 6.77e-04 | 3.78e-03 | 23 |
GO:00432445 | Oral cavity | OSCC | regulation of protein-containing complex disassembly | 65/7305 | 121/18723 | 7.08e-04 | 3.90e-03 | 65 |
GO:19021161 | Oral cavity | OSCC | negative regulation of organelle assembly | 26/7305 | 41/18723 | 1.34e-03 | 6.62e-03 | 26 |
GO:1902902 | Oral cavity | OSCC | negative regulation of autophagosome assembly | 12/7305 | 15/18723 | 1.49e-03 | 7.13e-03 | 12 |
GO:0022411112 | Skin | cSCC | cellular component disassembly | 201/4864 | 443/18723 | 4.09e-19 | 5.69e-17 | 201 |
GO:190332029 | Skin | cSCC | regulation of protein modification by small protein conjugation or removal | 125/4864 | 242/18723 | 9.50e-18 | 1.05e-15 | 125 |
GO:003139629 | Skin | cSCC | regulation of protein ubiquitination | 107/4864 | 210/18723 | 7.17e-15 | 5.35e-13 | 107 |
GO:001623619 | Skin | cSCC | macroautophagy | 136/4864 | 291/18723 | 1.36e-14 | 9.78e-13 | 136 |
GO:003133028 | Skin | cSCC | negative regulation of cellular catabolic process | 115/4864 | 262/18723 | 2.03e-10 | 8.72e-09 | 115 |
GO:000989527 | Skin | cSCC | negative regulation of catabolic process | 133/4864 | 320/18723 | 6.99e-10 | 2.77e-08 | 133 |
GO:0010639111 | Skin | cSCC | negative regulation of organelle organization | 140/4864 | 348/18723 | 3.35e-09 | 1.15e-07 | 140 |
GO:003298418 | Skin | cSCC | protein-containing complex disassembly | 98/4864 | 224/18723 | 5.31e-09 | 1.77e-07 | 98 |
GO:001050619 | Skin | cSCC | regulation of autophagy | 127/4864 | 317/18723 | 2.36e-08 | 6.71e-07 | 127 |
GO:190332217 | Skin | cSCC | positive regulation of protein modification by small protein conjugation or removal | 64/4864 | 138/18723 | 1.79e-07 | 3.94e-06 | 64 |
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 |
PHF23 | SNV | Missense_Mutation | novel | c.536N>A | p.Arg179Gln | p.R179Q | Q9BUL5 | protein_coding | tolerated_low_confidence(0.17) | possibly_damaging(0.457) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PHF23 | SNV | Missense_Mutation | | c.157N>C | p.Glu53Gln | p.E53Q | Q9BUL5 | protein_coding | tolerated(0.05) | benign(0.27) | TCGA-D8-A1J8-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | nolvadex | SD |
PHF23 | insertion | Frame_Shift_Ins | novel | c.1087_1088insCTTCCTGGGTATC | p.Ile363ThrfsTer11 | p.I363Tfs*11 | Q9BUL5 | protein_coding | | | TCGA-B6-A0IN-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
PHF23 | SNV | Missense_Mutation | rs201898433 | c.557N>A | p.Arg186Gln | p.R186Q | Q9BUL5 | protein_coding | tolerated_low_confidence(0.05) | possibly_damaging(0.629) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
PHF23 | SNV | Missense_Mutation | | c.64N>A | p.Gln22Lys | p.Q22K | Q9BUL5 | protein_coding | tolerated(1) | benign(0.258) | TCGA-EK-A2PL-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unknown | Unknown | SD |
PHF23 | SNV | Missense_Mutation | | c.552N>T | p.Lys184Asn | p.K184N | Q9BUL5 | protein_coding | deleterious_low_confidence(0.02) | probably_damaging(0.991) | TCGA-AA-3977-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
PHF23 | SNV | Missense_Mutation | novel | c.86N>T | p.Arg29Ile | p.R29I | Q9BUL5 | protein_coding | deleterious(0) | possibly_damaging(0.694) | TCGA-AA-A00N-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
PHF23 | SNV | Missense_Mutation | novel | c.815N>C | p.Val272Ala | p.V272A | Q9BUL5 | protein_coding | tolerated_low_confidence(0.89) | benign(0) | TCGA-AZ-6598-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PHF23 | SNV | Missense_Mutation | | c.1072N>A | p.Leu358Met | p.L358M | Q9BUL5 | protein_coding | tolerated(0.14) | possibly_damaging(0.652) | TCGA-G4-6586-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PHF23 | SNV | Missense_Mutation | rs201898433 | c.557N>A | p.Arg186Gln | p.R186Q | Q9BUL5 | protein_coding | tolerated_low_confidence(0.05) | possibly_damaging(0.629) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |