Tissue | Expression Dynamics | Abbreviation |
Cervix | ![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/Cervix/AP3B1_pca_on_diff_genes.png) | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
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/AP3B1_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/AP3B1_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/AP3B1_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/AP3B1_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/AP3B1_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/AP3B1_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/AP3B1_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/AP3B1_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/AP3B1_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:190210516 | Skin | SCCIS | regulation of leukocyte differentiation | 35/919 | 279/18723 | 3.43e-07 | 3.03e-05 | 35 |
GO:000257319 | Skin | SCCIS | myeloid leukocyte differentiation | 28/919 | 208/18723 | 1.24e-06 | 8.07e-05 | 28 |
GO:0019884111 | Skin | SCCIS | antigen processing and presentation of exogenous antigen | 12/919 | 47/18723 | 1.94e-06 | 1.05e-04 | 12 |
GO:1903706111 | Skin | SCCIS | regulation of hemopoiesis | 40/919 | 367/18723 | 2.04e-06 | 1.09e-04 | 40 |
GO:0030099112 | Skin | SCCIS | myeloid cell differentiation | 41/919 | 381/18723 | 2.11e-06 | 1.09e-04 | 41 |
GO:0022409110 | Skin | SCCIS | positive regulation of cell-cell adhesion | 33/919 | 284/18723 | 4.06e-06 | 1.82e-04 | 33 |
GO:0019882111 | Skin | SCCIS | antigen processing and presentation | 17/919 | 106/18723 | 1.52e-05 | 4.90e-04 | 17 |
GO:00466355 | Skin | SCCIS | positive regulation of alpha-beta T cell activation | 13/919 | 67/18723 | 1.90e-05 | 5.80e-04 | 13 |
GO:005087017 | Skin | SCCIS | positive regulation of T cell activation | 26/919 | 216/18723 | 2.26e-05 | 6.50e-04 | 26 |
GO:00466345 | Skin | SCCIS | regulation of alpha-beta T cell activation | 16/919 | 104/18723 | 4.56e-05 | 1.14e-03 | 16 |
GO:190303918 | Skin | SCCIS | positive regulation of leukocyte cell-cell adhesion | 27/919 | 239/18723 | 4.90e-05 | 1.20e-03 | 27 |
GO:000759616 | Skin | SCCIS | blood coagulation | 25/919 | 217/18723 | 6.68e-05 | 1.59e-03 | 25 |
GO:000759916 | Skin | SCCIS | hemostasis | 25/919 | 222/18723 | 9.68e-05 | 2.12e-03 | 25 |
GO:005081716 | Skin | SCCIS | coagulation | 25/919 | 222/18723 | 9.68e-05 | 2.12e-03 | 25 |
GO:00466371 | Skin | SCCIS | regulation of alpha-beta T cell differentiation | 12/919 | 68/18723 | 1.04e-04 | 2.25e-03 | 12 |
GO:004561913 | Skin | SCCIS | regulation of lymphocyte differentiation | 21/919 | 174/18723 | 1.29e-04 | 2.69e-03 | 21 |
GO:00466381 | Skin | SCCIS | positive regulation of alpha-beta T cell differentiation | 10/919 | 50/18723 | 1.32e-04 | 2.75e-03 | 10 |
GO:190313115 | Skin | SCCIS | mononuclear cell differentiation | 39/919 | 426/18723 | 1.42e-04 | 2.90e-03 | 39 |
GO:003021713 | Skin | SCCIS | T cell differentiation | 27/919 | 257/18723 | 1.68e-04 | 3.31e-03 | 27 |
GO:00466315 | Skin | SCCIS | alpha-beta T cell activation | 19/919 | 156/18723 | 2.36e-04 | 4.34e-03 | 19 |
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 |
AP3B1 | SNV | Missense_Mutation | rs757690159 | c.3085N>T | p.Val1029Leu | p.V1029L | O00203 | protein_coding | tolerated(0.12) | benign(0.007) | TCGA-A8-A09V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
AP3B1 | SNV | Missense_Mutation | rs758805835 | c.1331A>G | p.Asn444Ser | p.N444S | O00203 | protein_coding | tolerated(0.28) | benign(0.006) | TCGA-A8-A0A2-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
AP3B1 | SNV | Missense_Mutation | | c.356N>G | p.Thr119Ser | p.T119S | O00203 | protein_coding | tolerated(0.05) | benign(0.19) | TCGA-B6-A0X5-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
AP3B1 | SNV | Missense_Mutation | | c.1846C>T | p.His616Tyr | p.H616Y | O00203 | protein_coding | deleterious(0) | possibly_damaging(0.474) | TCGA-BH-A0DK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
AP3B1 | SNV | Missense_Mutation | novel | c.2479N>T | p.Val827Leu | p.V827L | O00203 | protein_coding | tolerated(0.23) | benign(0.017) | TCGA-BH-A0DQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
AP3B1 | SNV | Missense_Mutation | novel | c.334N>T | p.Leu112Phe | p.L112F | O00203 | protein_coding | deleterious(0.01) | probably_damaging(0.979) | TCGA-D8-A1XM-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
AP3B1 | SNV | Missense_Mutation | rs367631130 | c.680N>A | p.Arg227His | p.R227H | O00203 | protein_coding | deleterious(0) | probably_damaging(0.969) | TCGA-D8-A1XY-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | tamoxiphen | SD |
AP3B1 | SNV | Missense_Mutation | novel | c.3248T>C | p.Leu1083Pro | p.L1083P | O00203 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
AP3B1 | SNV | Missense_Mutation | novel | c.2543G>A | p.Gly848Asp | p.G848D | O00203 | protein_coding | deleterious(0.03) | probably_damaging(0.998) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
AP3B1 | SNV | Missense_Mutation | novel | c.2294N>T | p.Ser765Leu | p.S765L | O00203 | protein_coding | deleterious(0.01) | benign(0.011) | TCGA-C5-A2LZ-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Unknown | Unknown | PD |