Tissue | Expression Dynamics | Abbreviation |
Cervix | | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
Colorectum (GSE201348) | | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
Endometrium | | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid Cancer |
Esophagus | | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Liver | | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Lung | | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
Oral Cavity | | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Skin | | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
Thyroid | | 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:003032315 | Oral cavity | NEOLP | respiratory tube development | 33/2005 | 181/18723 | 1.58e-03 | 1.11e-02 | 33 |
GO:009911111 | Oral cavity | NEOLP | microtubule-based transport | 34/2005 | 190/18723 | 1.87e-03 | 1.28e-02 | 34 |
GO:190210523 | Oral cavity | NEOLP | regulation of leukocyte differentiation | 46/2005 | 279/18723 | 1.98e-03 | 1.33e-02 | 46 |
GO:003021721 | Oral cavity | NEOLP | T cell differentiation | 43/2005 | 257/18723 | 2.05e-03 | 1.36e-02 | 43 |
GO:00022242 | Oral cavity | NEOLP | toll-like receptor signaling pathway | 24/2005 | 121/18723 | 2.08e-03 | 1.38e-02 | 24 |
GO:190210721 | Oral cavity | NEOLP | positive regulation of leukocyte differentiation | 29/2005 | 157/18723 | 2.40e-03 | 1.53e-02 | 29 |
GO:190370821 | Oral cavity | NEOLP | positive regulation of hemopoiesis | 29/2005 | 157/18723 | 2.40e-03 | 1.53e-02 | 29 |
GO:00456211 | Oral cavity | NEOLP | positive regulation of lymphocyte differentiation | 21/2005 | 104/18723 | 3.07e-03 | 1.87e-02 | 21 |
GO:006054114 | Oral cavity | NEOLP | respiratory system development | 35/2005 | 203/18723 | 3.08e-03 | 1.88e-02 | 35 |
GO:004561921 | Oral cavity | NEOLP | regulation of lymphocyte differentiation | 31/2005 | 174/18723 | 3.10e-03 | 1.89e-02 | 31 |
GO:007238431 | Oral cavity | NEOLP | organelle transport along microtubule | 18/2005 | 85/18723 | 3.45e-03 | 2.05e-02 | 18 |
GO:003032416 | Oral cavity | NEOLP | lung development | 31/2005 | 177/18723 | 4.04e-03 | 2.30e-02 | 31 |
GO:000704131 | Oral cavity | NEOLP | lysosomal transport | 22/2005 | 114/18723 | 4.42e-03 | 2.49e-02 | 22 |
GO:007058532 | Oral cavity | NEOLP | protein localization to mitochondrion | 23/2005 | 125/18723 | 6.70e-03 | 3.42e-02 | 23 |
GO:009893021 | Oral cavity | NEOLP | axonal transport | 14/2005 | 64/18723 | 6.92e-03 | 3.51e-02 | 14 |
GO:000660532 | Oral cavity | NEOLP | protein targeting | 48/2005 | 314/18723 | 7.23e-03 | 3.66e-02 | 48 |
GO:005125113 | Oral cavity | NEOLP | positive regulation of lymphocyte activation | 54/2005 | 362/18723 | 7.55e-03 | 3.77e-02 | 54 |
GO:006146221 | Oral cavity | NEOLP | protein localization to lysosome | 11/2005 | 46/18723 | 7.99e-03 | 3.95e-02 | 11 |
GO:007265532 | Oral cavity | NEOLP | establishment of protein localization to mitochondrion | 22/2005 | 120/18723 | 8.23e-03 | 4.04e-02 | 22 |
GO:009951821 | Oral cavity | NEOLP | vesicle cytoskeletal trafficking | 15/2005 | 73/18723 | 9.60e-03 | 4.53e-02 | 15 |
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 |