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:00508787 | Liver | NAFLD | regulation of body fluid levels | 60/1882 | 379/18723 | 2.61e-04 | 4.23e-03 | 60 |
GO:00726653 | Liver | NAFLD | protein localization to vacuole | 16/1882 | 67/18723 | 7.94e-04 | 9.90e-03 | 16 |
GO:00726663 | Liver | NAFLD | establishment of protein localization to vacuole | 13/1882 | 49/18723 | 8.43e-04 | 1.03e-02 | 13 |
GO:00725947 | Liver | NAFLD | establishment of protein localization to organelle | 62/1882 | 422/18723 | 1.48e-03 | 1.64e-02 | 62 |
GO:00995321 | Liver | NAFLD | synaptic vesicle endosomal processing | 5/1882 | 10/18723 | 1.67e-03 | 1.74e-02 | 5 |
GO:00488727 | Liver | NAFLD | homeostasis of number of cells | 43/1882 | 272/18723 | 1.86e-03 | 1.91e-02 | 43 |
GO:00070345 | Liver | NAFLD | vacuolar transport | 28/1882 | 157/18723 | 1.91e-03 | 1.93e-02 | 28 |
GO:00307055 | Liver | NAFLD | cytoskeleton-dependent intracellular transport | 33/1882 | 195/18723 | 1.98e-03 | 1.98e-02 | 33 |
GO:00070414 | Liver | NAFLD | lysosomal transport | 22/1882 | 114/18723 | 2.03e-03 | 2.02e-02 | 22 |
GO:00516565 | Liver | NAFLD | establishment of organelle localization | 57/1882 | 390/18723 | 2.52e-03 | 2.34e-02 | 57 |
GO:00516485 | Liver | NAFLD | vesicle localization | 30/1882 | 177/18723 | 3.01e-03 | 2.72e-02 | 30 |
GO:00300997 | Liver | NAFLD | myeloid cell differentiation | 55/1882 | 381/18723 | 3.86e-03 | 3.28e-02 | 55 |
GO:00516505 | Liver | NAFLD | establishment of vesicle localization | 27/1882 | 161/18723 | 5.47e-03 | 4.20e-02 | 27 |
GO:0006622 | Liver | NAFLD | protein targeting to lysosome | 7/1882 | 23/18723 | 5.91e-03 | 4.47e-02 | 7 |
GO:00109703 | Liver | NAFLD | transport along microtubule | 26/1882 | 155/18723 | 6.30e-03 | 4.69e-02 | 26 |
GO:00080884 | Liver | NAFLD | axo-dendritic transport | 15/1882 | 75/18723 | 7.02e-03 | 4.91e-02 | 15 |
GO:00364653 | Liver | NAFLD | synaptic vesicle recycling | 15/1882 | 75/18723 | 7.02e-03 | 4.91e-02 | 15 |
GO:007259422 | Liver | HCC | establishment of protein localization to organelle | 299/7958 | 422/18723 | 1.06e-32 | 6.10e-30 | 299 |
GO:000660512 | Liver | HCC | protein targeting | 219/7958 | 314/18723 | 7.74e-23 | 1.49e-20 | 219 |
GO:007265512 | Liver | HCC | establishment of protein localization to mitochondrion | 98/7958 | 120/18723 | 1.18e-18 | 1.46e-16 | 98 |
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 |