Tissue | Expression Dynamics | Abbreviation |
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 |
Esophagus | | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Lung | | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
Prostate | | BPH: Benign Prostatic Hyperplasia |
Skin | | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0002064 | Colorectum | AD | epithelial cell development | 89/3918 | 220/18723 | 2.98e-11 | 3.52e-09 | 89 |
GO:1904951 | Colorectum | AD | positive regulation of establishment of protein localization | 112/3918 | 319/18723 | 2.55e-09 | 1.80e-07 | 112 |
GO:0051222 | Colorectum | AD | positive regulation of protein transport | 106/3918 | 303/18723 | 8.45e-09 | 5.08e-07 | 106 |
GO:0071985 | Colorectum | AD | multivesicular body sorting pathway | 19/3918 | 37/18723 | 4.08e-05 | 7.26e-04 | 19 |
GO:0050708 | Colorectum | AD | regulation of protein secretion | 83/3918 | 268/18723 | 6.59e-05 | 1.07e-03 | 83 |
GO:0009306 | Colorectum | AD | protein secretion | 105/3918 | 359/18723 | 1.05e-04 | 1.57e-03 | 105 |
GO:0035592 | Colorectum | AD | establishment of protein localization to extracellular region | 105/3918 | 360/18723 | 1.18e-04 | 1.73e-03 | 105 |
GO:0045921 | Colorectum | AD | positive regulation of exocytosis | 33/3918 | 86/18723 | 1.58e-04 | 2.20e-03 | 33 |
GO:0071692 | Colorectum | AD | protein localization to extracellular region | 106/3918 | 368/18723 | 1.86e-04 | 2.49e-03 | 106 |
GO:0051047 | Colorectum | AD | positive regulation of secretion | 90/3918 | 310/18723 | 4.11e-04 | 4.66e-03 | 90 |
GO:1903532 | Colorectum | AD | positive regulation of secretion by cell | 82/3918 | 282/18723 | 6.85e-04 | 7.00e-03 | 82 |
GO:0006887 | Colorectum | AD | exocytosis | 96/3918 | 352/18723 | 2.48e-03 | 1.90e-02 | 96 |
GO:0017157 | Colorectum | AD | regulation of exocytosis | 59/3918 | 202/18723 | 3.20e-03 | 2.36e-02 | 59 |
GO:0050714 | Colorectum | AD | positive regulation of protein secretion | 42/3918 | 137/18723 | 4.64e-03 | 3.16e-02 | 42 |
GO:0009913 | Colorectum | AD | epidermal cell differentiation | 58/3918 | 202/18723 | 5.16e-03 | 3.42e-02 | 58 |
GO:0008544 | Colorectum | AD | epidermis development | 87/3918 | 324/18723 | 5.99e-03 | 3.76e-02 | 87 |
GO:19049511 | Colorectum | SER | positive regulation of establishment of protein localization | 91/2897 | 319/18723 | 1.69e-09 | 1.68e-07 | 91 |
GO:00512221 | Colorectum | SER | positive regulation of protein transport | 85/2897 | 303/18723 | 1.36e-08 | 1.05e-06 | 85 |
GO:00020641 | Colorectum | SER | epithelial cell development | 64/2897 | 220/18723 | 1.96e-07 | 1.10e-05 | 64 |
GO:00719851 | Colorectum | SER | multivesicular body sorting pathway | 17/2897 | 37/18723 | 1.12e-05 | 3.60e-04 | 17 |
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 |
EXPH5 | SNV | Missense_Mutation | novel | c.3740T>C | p.Leu1247Pro | p.L1247P | Q8NEV8 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-D1-A1NZ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
EXPH5 | SNV | Missense_Mutation | novel | c.5254N>A | p.Leu1752Met | p.L1752M | Q8NEV8 | protein_coding | tolerated(0.08) | possibly_damaging(0.582) | TCGA-DF-A2KU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
EXPH5 | SNV | Missense_Mutation | novel | c.3209N>G | p.Phe1070Cys | p.F1070C | Q8NEV8 | protein_coding | tolerated(0.07) | probably_damaging(0.917) | TCGA-DF-A2KU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
EXPH5 | SNV | Missense_Mutation | novel | c.5534N>G | p.Tyr1845Cys | p.Y1845C | Q8NEV8 | protein_coding | tolerated(0.05) | benign(0.132) | TCGA-DI-A1BU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
EXPH5 | SNV | Missense_Mutation | novel | c.5093N>A | p.Arg1698Gln | p.R1698Q | Q8NEV8 | protein_coding | tolerated(0.35) | benign(0.001) | TCGA-E6-A1LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
EXPH5 | SNV | Missense_Mutation | | c.5303N>A | p.Ser1768Asn | p.S1768N | Q8NEV8 | protein_coding | tolerated(0.56) | benign(0.038) | TCGA-EC-A24G-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
EXPH5 | SNV | Missense_Mutation | novel | c.5357A>G | p.Glu1786Gly | p.E1786G | Q8NEV8 | protein_coding | tolerated(0.06) | benign(0.278) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
EXPH5 | SNV | Missense_Mutation | novel | c.5142G>T | p.Glu1714Asp | p.E1714D | Q8NEV8 | protein_coding | tolerated(0.08) | benign(0.105) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
EXPH5 | SNV | Missense_Mutation | rs779315623 | c.4307G>A | p.Gly1436Glu | p.G1436E | Q8NEV8 | protein_coding | tolerated(1) | benign(0.007) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
EXPH5 | SNV | Missense_Mutation | novel | c.4628N>T | p.Arg1543Ile | p.R1543I | Q8NEV8 | protein_coding | tolerated(0.07) | possibly_damaging(0.8) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |