Tissue | Expression Dynamics | Abbreviation |
Breast | ![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/Breast/AP2B1_pca_on_diff_genes.png) | IDC: Invasive ductal carcinoma |
DCIS: Ductal carcinoma in situ |
Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers |
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/AP2B1_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/AP2B1_pca_on_diff_genes.png) | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal 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/AP2B1_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/AP2B1_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Lung | ![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/Lung/AP2B1_pca_on_diff_genes.png) | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
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/AP2B1_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Prostate | ![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/Prostate/AP2B1_pca_on_diff_genes.png) | BPH: Benign Prostatic Hyperplasia |
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/AP2B1_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/AP2B1_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:00709979 | Breast | Precancer | neuron death | 50/1080 | 361/18723 | 7.75e-09 | 5.70e-07 | 50 |
GO:19012149 | Breast | Precancer | regulation of neuron death | 41/1080 | 319/18723 | 1.27e-06 | 4.80e-05 | 41 |
GO:19038299 | Breast | Precancer | positive regulation of cellular protein localization | 30/1080 | 276/18723 | 6.48e-04 | 7.99e-03 | 30 |
GO:00068986 | Breast | Precancer | receptor-mediated endocytosis | 27/1080 | 244/18723 | 9.01e-04 | 1.03e-02 | 27 |
GO:19012157 | Breast | Precancer | negative regulation of neuron death | 24/1080 | 208/18723 | 9.50e-04 | 1.07e-02 | 24 |
GO:00458076 | Breast | Precancer | positive regulation of endocytosis | 14/1080 | 100/18723 | 1.77e-03 | 1.74e-02 | 14 |
GO:00316235 | Breast | Precancer | receptor internalization | 15/1080 | 113/18723 | 2.11e-03 | 2.00e-02 | 15 |
GO:00482685 | Breast | Precancer | clathrin coat assembly | 5/1080 | 18/18723 | 2.88e-03 | 2.49e-02 | 5 |
GO:19054777 | Breast | Precancer | positive regulation of protein localization to membrane | 14/1080 | 106/18723 | 3.07e-03 | 2.62e-02 | 14 |
GO:19054757 | Breast | Precancer | regulation of protein localization to membrane | 19/1080 | 175/18723 | 5.98e-03 | 4.22e-02 | 19 |
GO:007099714 | Breast | IDC | neuron death | 57/1434 | 361/18723 | 1.31e-07 | 7.38e-06 | 57 |
GO:190121414 | Breast | IDC | regulation of neuron death | 48/1434 | 319/18723 | 5.01e-06 | 1.69e-04 | 48 |
GO:190547513 | Breast | IDC | regulation of protein localization to membrane | 28/1434 | 175/18723 | 1.56e-04 | 2.71e-03 | 28 |
GO:000689813 | Breast | IDC | receptor-mediated endocytosis | 35/1434 | 244/18723 | 2.38e-04 | 3.75e-03 | 35 |
GO:004580713 | Breast | IDC | positive regulation of endocytosis | 18/1434 | 100/18723 | 5.40e-04 | 6.96e-03 | 18 |
GO:003162311 | Breast | IDC | receptor internalization | 19/1434 | 113/18723 | 9.17e-04 | 1.05e-02 | 19 |
GO:190547713 | Breast | IDC | positive regulation of protein localization to membrane | 18/1434 | 106/18723 | 1.10e-03 | 1.21e-02 | 18 |
GO:190382914 | Breast | IDC | positive regulation of cellular protein localization | 36/1434 | 276/18723 | 1.19e-03 | 1.28e-02 | 36 |
GO:190121513 | Breast | IDC | negative regulation of neuron death | 29/1434 | 208/18723 | 1.23e-03 | 1.32e-02 | 29 |
GO:00431126 | Breast | IDC | receptor metabolic process | 23/1434 | 166/18723 | 4.04e-03 | 3.25e-02 | 23 |
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 |
AP2B1 | SNV | Missense_Mutation | novel | c.496N>T | p.Arg166Trp | p.R166W | P63010 | protein_coding | deleterious(0) | possibly_damaging(0.879) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
AP2B1 | SNV | Missense_Mutation | novel | c.1399N>C | p.Glu467Gln | p.E467Q | P63010 | protein_coding | tolerated(0.1) | benign(0.054) | TCGA-AO-A0JC-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | fluorouracil | SD |
AP2B1 | SNV | Missense_Mutation | novel | c.2654N>G | p.Asn885Ser | p.N885S | P63010 | protein_coding | tolerated(0.84) | benign(0.024) | TCGA-BH-A1F8-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | PD |
AP2B1 | insertion | Nonsense_Mutation | novel | c.2252_2253insGTTCTTCCCAATCTCCCCTCTCCCTT | p.Tyr751Ter | p.Y751* | P63010 | protein_coding | | | TCGA-A8-A07R-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Ancillary | zoledronic | SD |
AP2B1 | insertion | In_Frame_Ins | novel | c.1761_1762insGTTAAAAAAAATTTCTTTTTTTTGGAACGGAGTTTTGCTCTT | p.Gly587_Ile588insValLysLysAsnPhePhePheLeuGluArgSerPheAlaLeu | p.G587_I588insVKKNFFFLERSFAL | P63010 | protein_coding | | | TCGA-A8-A08H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
AP2B1 | insertion | Nonsense_Mutation | novel | c.1730_1731insATTATAGGCATGTGCCACCTTGCCTGGCTAATTTTTTGTATT | p.Pro577_Pro578insLeuTerAlaCysAlaThrLeuProGlyTerPhePheValPhe | p.P577_P578insL*ACATLPG*FFVF | P63010 | protein_coding | | | TCGA-AO-A0JB-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | SD |
AP2B1 | SNV | Missense_Mutation | novel | c.2636N>T | p.Ser879Phe | p.S879F | P63010 | protein_coding | tolerated(0.07) | possibly_damaging(0.867) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
AP2B1 | SNV | Missense_Mutation | novel | c.1142N>T | p.Ala381Val | p.A381V | P63010 | protein_coding | deleterious(0) | possibly_damaging(0.891) | TCGA-EA-A3HU-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
AP2B1 | SNV | Missense_Mutation | novel | c.1715C>T | p.Ser572Phe | p.S572F | P63010 | protein_coding | deleterious(0) | probably_damaging(0.919) | TCGA-EA-A43B-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
AP2B1 | SNV | Missense_Mutation | novel | c.1501N>A | p.Glu501Lys | p.E501K | P63010 | protein_coding | tolerated(0.22) | benign(0.027) | TCGA-FU-A3HZ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |