Tissue | Expression Dynamics | Abbreviation |
Colorectum (GSE201348) | ![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/Colorectum/Becker/APH1A_pca_on_diff_genes.png) | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | ![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/Colorectum/Chen/APH1A_pca_on_diff_genes.png) | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
Endometrium | ![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/Endometrium/APH1A_pca_on_diff_genes.png) | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid Cancer |
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/APH1A_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/APH1A_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/APH1A_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/APH1A_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/APH1A_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:0045862 | Colorectum | AD | positive regulation of proteolysis | 129/3918 | 372/18723 | 4.04e-10 | 3.46e-08 | 129 |
GO:0052547 | Colorectum | AD | regulation of peptidase activity | 137/3918 | 461/18723 | 4.12e-06 | 1.12e-04 | 137 |
GO:0010952 | Colorectum | AD | positive regulation of peptidase activity | 68/3918 | 197/18723 | 6.30e-06 | 1.59e-04 | 68 |
GO:0052548 | Colorectum | AD | regulation of endopeptidase activity | 124/3918 | 432/18723 | 6.58e-05 | 1.07e-03 | 124 |
GO:0010950 | Colorectum | AD | positive regulation of endopeptidase activity | 59/3918 | 179/18723 | 1.11e-04 | 1.65e-03 | 59 |
GO:0051604 | Colorectum | AD | protein maturation | 85/3918 | 294/18723 | 6.73e-04 | 6.91e-03 | 85 |
GO:0033619 | Colorectum | AD | membrane protein proteolysis | 21/3918 | 57/18723 | 4.16e-03 | 2.88e-02 | 21 |
GO:0016485 | Colorectum | AD | protein processing | 63/3918 | 225/18723 | 6.77e-03 | 4.19e-02 | 63 |
GO:0007219 | Colorectum | AD | Notch signaling pathway | 50/3918 | 172/18723 | 6.92e-03 | 4.26e-02 | 50 |
GO:00458621 | Colorectum | SER | positive regulation of proteolysis | 106/2897 | 372/18723 | 8.40e-11 | 1.20e-08 | 106 |
GO:00525471 | Colorectum | SER | regulation of peptidase activity | 114/2897 | 461/18723 | 1.18e-07 | 7.17e-06 | 114 |
GO:00525481 | Colorectum | SER | regulation of endopeptidase activity | 103/2897 | 432/18723 | 2.86e-06 | 1.16e-04 | 103 |
GO:00109521 | Colorectum | SER | positive regulation of peptidase activity | 55/2897 | 197/18723 | 5.44e-06 | 2.00e-04 | 55 |
GO:00516041 | Colorectum | SER | protein maturation | 73/2897 | 294/18723 | 1.82e-05 | 5.38e-04 | 73 |
GO:00109501 | Colorectum | SER | positive regulation of endopeptidase activity | 47/2897 | 179/18723 | 1.32e-04 | 2.66e-03 | 47 |
GO:00164851 | Colorectum | SER | protein processing | 55/2897 | 225/18723 | 2.84e-04 | 4.67e-03 | 55 |
GO:00458622 | Colorectum | MSS | positive regulation of proteolysis | 119/3467 | 372/18723 | 2.14e-10 | 2.09e-08 | 119 |
GO:00525472 | Colorectum | MSS | regulation of peptidase activity | 130/3467 | 461/18723 | 1.81e-07 | 8.13e-06 | 130 |
GO:00109522 | Colorectum | MSS | positive regulation of peptidase activity | 63/3467 | 197/18723 | 3.65e-06 | 1.06e-04 | 63 |
GO:00525482 | Colorectum | MSS | regulation of endopeptidase activity | 117/3467 | 432/18723 | 6.25e-06 | 1.65e-04 | 117 |
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 |
APH1A | SNV | Missense_Mutation | | c.91N>T | p.Arg31Cys | p.R31C | Q96BI3 | protein_coding | deleterious(0) | probably_damaging(0.961) | TCGA-AR-A2LE-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | PD |
APH1A | SNV | Missense_Mutation | | c.91C>T | p.Arg31Cys | p.R31C | Q96BI3 | protein_coding | deleterious(0) | probably_damaging(0.961) | TCGA-C8-A26Y-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
APH1A | SNV | Missense_Mutation | novel | c.194C>A | p.Ala65Asp | p.A65D | Q96BI3 | protein_coding | tolerated(0.26) | benign(0.174) | TCGA-E9-A1ND-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | aromasin | SD |
APH1A | insertion | Frame_Shift_Ins | novel | c.248_249insTCTTGGTCTTTTTCTCAGGCCTGAGGGG | p.Gln83HisfsTer22 | p.Q83Hfs*22 | Q96BI3 | protein_coding | | | TCGA-A8-A07J-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
APH1A | SNV | Missense_Mutation | | c.236N>T | p.Ser79Phe | p.S79F | Q96BI3 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-C5-A1BL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
APH1A | SNV | Missense_Mutation | | c.91N>T | p.Arg31Cys | p.R31C | Q96BI3 | protein_coding | deleterious(0) | probably_damaging(0.961) | TCGA-EK-A2R8-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
APH1A | SNV | Missense_Mutation | novel | c.779N>A | p.Arg260His | p.R260H | Q96BI3 | protein_coding | deleterious_low_confidence(0.02) | benign(0) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR |
APH1A | SNV | Missense_Mutation | novel | c.625N>A | p.Trp209Arg | p.W209R | Q96BI3 | protein_coding | tolerated(0.34) | benign(0) | TCGA-AP-A1DO-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
APH1A | SNV | Missense_Mutation | rs782641325 | c.740N>A | p.Arg247Gln | p.R247Q | Q96BI3 | protein_coding | tolerated(0.43) | benign(0.033) | TCGA-AX-A1C9-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
APH1A | SNV | Missense_Mutation | rs71622685 | c.755N>A | p.Arg252Gln | p.R252Q | Q96BI3 | protein_coding | tolerated_low_confidence(0.29) | benign(0) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
51107 | APH1A | DRUGGABLE GENOME, CLINICALLY ACTIONABLE | | PMID28350212-Compound-15 | | |
51107 | APH1A | DRUGGABLE GENOME, CLINICALLY ACTIONABLE | | PMID28350212-Compound-25 | | |
51107 | APH1A | DRUGGABLE GENOME, CLINICALLY ACTIONABLE | | SEMAGACESTAT | SEMAGACESTAT | 19443228 |
51107 | APH1A | DRUGGABLE GENOME, CLINICALLY ACTIONABLE | | PMID28350212-Compound-20 | | |
51107 | APH1A | DRUGGABLE GENOME, CLINICALLY ACTIONABLE | | PMID28350212-Compound-23 | | |
51107 | APH1A | DRUGGABLE GENOME, CLINICALLY ACTIONABLE | | PMID28350212-Compound-35 | | |
51107 | APH1A | DRUGGABLE GENOME, CLINICALLY ACTIONABLE | | PMID28350212-Compound-30 | | |
51107 | APH1A | DRUGGABLE GENOME, CLINICALLY ACTIONABLE | | PMID28350212-Compound-7 | | |
51107 | APH1A | DRUGGABLE GENOME, CLINICALLY ACTIONABLE | inhibitor | MK0752 | | |
51107 | APH1A | DRUGGABLE GENOME, CLINICALLY ACTIONABLE | inhibitor | PF03084014 | | |