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:000182222 | Thyroid | ATC | kidney development | 146/6293 | 293/18723 | 5.81e-09 | 1.28e-07 | 146 |
GO:000165522 | Thyroid | ATC | urogenital system development | 164/6293 | 338/18723 | 7.92e-09 | 1.70e-07 | 164 |
GO:190121428 | Thyroid | ATC | regulation of neuron death | 156/6293 | 319/18723 | 9.30e-09 | 1.96e-07 | 156 |
GO:007200122 | Thyroid | ATC | renal system development | 149/6293 | 302/18723 | 9.48e-09 | 1.99e-07 | 149 |
GO:0045807111 | Thyroid | ATC | positive regulation of endocytosis | 61/6293 | 100/18723 | 1.80e-08 | 3.59e-07 | 61 |
GO:000689826 | Thyroid | ATC | receptor-mediated endocytosis | 118/6293 | 244/18723 | 1.17e-06 | 1.50e-05 | 118 |
GO:003150316 | Thyroid | ATC | protein-containing complex localization | 108/6293 | 220/18723 | 1.33e-06 | 1.69e-05 | 108 |
GO:1905477111 | Thyroid | ATC | positive regulation of protein localization to membrane | 58/6293 | 106/18723 | 6.14e-06 | 6.42e-05 | 58 |
GO:000327912 | Thyroid | ATC | cardiac septum development | 56/6293 | 103/18723 | 1.14e-05 | 1.11e-04 | 56 |
GO:004311224 | Thyroid | ATC | receptor metabolic process | 82/6293 | 166/18723 | 1.78e-05 | 1.63e-04 | 82 |
GO:007258315 | Thyroid | ATC | clathrin-dependent endocytosis | 30/6293 | 47/18723 | 2.16e-05 | 1.92e-04 | 30 |
GO:000320512 | Thyroid | ATC | cardiac chamber development | 79/6293 | 161/18723 | 3.39e-05 | 2.80e-04 | 79 |
GO:190121519 | Thyroid | ATC | negative regulation of neuron death | 97/6293 | 208/18723 | 6.19e-05 | 4.73e-04 | 97 |
GO:000328121 | Thyroid | ATC | ventricular septum development | 37/6293 | 71/18723 | 9.80e-04 | 5.21e-03 | 37 |
GO:000323111 | Thyroid | ATC | cardiac ventricle development | 58/6293 | 123/18723 | 1.23e-03 | 6.46e-03 | 58 |
GO:00608401 | Thyroid | ATC | artery development | 48/6293 | 100/18723 | 1.97e-03 | 9.52e-03 | 48 |
GO:0035904 | Thyroid | ATC | aorta development | 30/6293 | 58/18723 | 3.31e-03 | 1.48e-02 | 30 |
GO:003162310 | Thyroid | ATC | receptor internalization | 52/6293 | 113/18723 | 4.05e-03 | 1.74e-02 | 52 |
GO:004826816 | Thyroid | ATC | clathrin coat assembly | 12/6293 | 18/18723 | 4.22e-03 | 1.79e-02 | 12 |
GO:0060976 | Thyroid | ATC | coronary vasculature development | 24/6293 | 46/18723 | 7.13e-03 | 2.82e-02 | 24 |
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 |