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:00022215 | Thyroid | PTC | pattern recognition receptor signaling pathway | 77/5968 | 172/18723 | 2.56e-04 | 1.84e-03 | 77 |
GO:00995187 | Thyroid | PTC | vesicle cytoskeletal trafficking | 38/5968 | 73/18723 | 2.69e-04 | 1.91e-03 | 38 |
GO:003032317 | Thyroid | PTC | respiratory tube development | 80/5968 | 181/18723 | 3.23e-04 | 2.23e-03 | 80 |
GO:00070405 | Thyroid | PTC | lysosome organization | 38/5968 | 74/18723 | 3.84e-04 | 2.58e-03 | 38 |
GO:00801715 | Thyroid | PTC | lytic vacuole organization | 38/5968 | 74/18723 | 3.84e-04 | 2.58e-03 | 38 |
GO:003032419 | Thyroid | PTC | lung development | 77/5968 | 177/18723 | 7.33e-04 | 4.58e-03 | 77 |
GO:00989305 | Thyroid | PTC | axonal transport | 33/5968 | 64/18723 | 8.26e-04 | 5.11e-03 | 33 |
GO:0055076110 | Thyroid | PTC | transition metal ion homeostasis | 62/5968 | 138/18723 | 8.66e-04 | 5.30e-03 | 62 |
GO:00482855 | Thyroid | PTC | organelle fission | 188/5968 | 488/18723 | 9.64e-04 | 5.77e-03 | 188 |
GO:006054115 | Thyroid | PTC | respiratory system development | 86/5968 | 203/18723 | 1.02e-03 | 6.08e-03 | 86 |
GO:000662213 | Thyroid | PTC | protein targeting to lysosome | 15/5968 | 23/18723 | 1.04e-03 | 6.16e-03 | 15 |
GO:00995325 | Thyroid | PTC | synaptic vesicle endosomal processing | 8/5968 | 10/18723 | 2.46e-03 | 1.27e-02 | 8 |
GO:00474963 | Thyroid | PTC | vesicle transport along microtubule | 24/5968 | 47/18723 | 4.79e-03 | 2.24e-02 | 24 |
GO:006146213 | Thyroid | PTC | protein localization to lysosome | 23/5968 | 46/18723 | 7.89e-03 | 3.33e-02 | 23 |
GO:00092995 | Thyroid | PTC | mRNA transcription | 10/5968 | 16/18723 | 1.13e-02 | 4.49e-02 | 10 |
GO:007259429 | Thyroid | ATC | establishment of protein localization to organelle | 247/6293 | 422/18723 | 2.88e-26 | 1.40e-23 | 247 |
GO:000660533 | Thyroid | ATC | protein targeting | 180/6293 | 314/18723 | 3.54e-18 | 4.39e-16 | 180 |
GO:009015031 | Thyroid | ATC | establishment of protein localization to membrane | 150/6293 | 260/18723 | 1.05e-15 | 7.96e-14 | 150 |
GO:005165625 | Thyroid | ATC | establishment of organelle localization | 206/6293 | 390/18723 | 2.62e-15 | 1.84e-13 | 206 |
GO:001605023 | Thyroid | ATC | vesicle organization | 166/6293 | 300/18723 | 6.14e-15 | 3.92e-13 | 166 |
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 |