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 |
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 |
Oral Cavity | | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Prostate | | BPH: Benign Prostatic Hyperplasia |
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:00452293 | Oral cavity | OSCC | external encapsulating structure organization | 147/7305 | 304/18723 | 5.30e-04 | 3.08e-03 | 147 |
GO:00430623 | Oral cavity | OSCC | extracellular structure organization | 146/7305 | 302/18723 | 5.59e-04 | 3.23e-03 | 146 |
GO:000645719 | Oral cavity | LP | protein folding | 125/4623 | 212/18723 | 1.62e-26 | 8.45e-24 | 125 |
GO:0031647110 | Oral cavity | LP | regulation of protein stability | 132/4623 | 298/18723 | 8.16e-14 | 7.99e-12 | 132 |
GO:006107719 | Oral cavity | LP | chaperone-mediated protein folding | 45/4623 | 67/18723 | 2.58e-13 | 2.41e-11 | 45 |
GO:0050821110 | Oral cavity | LP | protein stabilization | 88/4623 | 191/18723 | 9.15e-11 | 5.51e-09 | 88 |
GO:001820815 | Oral cavity | LP | peptidyl-proline modification | 28/4623 | 58/18723 | 8.35e-05 | 1.07e-03 | 28 |
GO:001812611 | Oral cavity | LP | protein hydroxylation | 14/4623 | 27/18723 | 2.14e-03 | 1.57e-02 | 14 |
GO:003164726 | Oral cavity | EOLP | regulation of protein stability | 75/2218 | 298/18723 | 1.22e-10 | 1.35e-08 | 75 |
GO:000645725 | Oral cavity | EOLP | protein folding | 59/2218 | 212/18723 | 1.76e-10 | 1.79e-08 | 59 |
GO:006107724 | Oral cavity | EOLP | chaperone-mediated protein folding | 28/2218 | 67/18723 | 5.43e-10 | 4.31e-08 | 28 |
GO:005082126 | Oral cavity | EOLP | protein stabilization | 51/2218 | 191/18723 | 1.37e-08 | 6.40e-07 | 51 |
GO:003019811 | Oral cavity | EOLP | extracellular matrix organization | 52/2218 | 301/18723 | 3.29e-03 | 1.90e-02 | 52 |
GO:004306211 | Oral cavity | EOLP | extracellular structure organization | 52/2218 | 302/18723 | 3.52e-03 | 2.01e-02 | 52 |
GO:004522911 | Oral cavity | EOLP | external encapsulating structure organization | 52/2218 | 304/18723 | 4.04e-03 | 2.23e-02 | 52 |
GO:003164718 | Prostate | BPH | regulation of protein stability | 111/3107 | 298/18723 | 4.58e-18 | 1.42e-15 | 111 |
GO:000645716 | Prostate | BPH | protein folding | 85/3107 | 212/18723 | 2.37e-16 | 4.74e-14 | 85 |
GO:005082118 | Prostate | BPH | protein stabilization | 75/3107 | 191/18723 | 4.96e-14 | 5.68e-12 | 75 |
GO:006107716 | Prostate | BPH | chaperone-mediated protein folding | 30/3107 | 67/18723 | 5.88e-08 | 1.57e-06 | 30 |
GO:00182087 | Prostate | BPH | peptidyl-proline modification | 18/3107 | 58/18723 | 4.75e-03 | 2.27e-02 | 18 |
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 |
CRTAP | SNV | Missense_Mutation | rs766089362 | c.1144N>A | p.Asp382Asn | p.D382N | O75718 | protein_coding | tolerated(0.05) | benign(0.015) | TCGA-AN-A0XW-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
CRTAP | SNV | Missense_Mutation | rs142090883 | c.514N>G | p.Leu172Val | p.L172V | O75718 | protein_coding | deleterious(0) | probably_damaging(0.99) | TCGA-B6-A0IK-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
CRTAP | SNV | Missense_Mutation | | c.1094N>T | p.Thr365Ile | p.T365I | O75718 | protein_coding | deleterious(0.02) | probably_damaging(0.996) | TCGA-E2-A15K-06 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
CRTAP | insertion | Frame_Shift_Ins | novel | c.1016_1017insTAATATGAACTTTATTATTTTAGCCATTGTTCAAT | p.Gln339HisfsTer38 | p.Q339Hfs*38 | O75718 | protein_coding | | | TCGA-A8-A095-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
CRTAP | insertion | Frame_Shift_Ins | novel | c.516_517insAATAACCACCTTCTTAAACTTTCCTCCAATTACC | p.Leu173AsnfsTer16 | p.L173Nfs*16 | O75718 | protein_coding | | | TCGA-B6-A0IK-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
CRTAP | SNV | Missense_Mutation | rs149281572 | c.643N>T | p.Arg215Trp | p.R215W | O75718 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-A6-A565-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Unspecific | 5FU | PD |
CRTAP | SNV | Missense_Mutation | | c.1073N>A | p.Ala358Glu | p.A358E | O75718 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-AA-3833-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CRTAP | SNV | Missense_Mutation | rs145644749 | c.733N>A | p.Ala245Thr | p.A245T | O75718 | protein_coding | deleterious(0.03) | probably_damaging(0.996) | TCGA-F4-6856-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Ancillary | leucovorin | CR |
CRTAP | SNV | Missense_Mutation | | c.1188A>T | p.Glu396Asp | p.E396D | O75718 | protein_coding | tolerated_low_confidence(0.3) | benign(0) | TCGA-NH-A6GC-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Chemotherapy | fluorouracil | SD |
CRTAP | SNV | Missense_Mutation | novel | c.899A>G | p.Tyr300Cys | p.Y300C | O75718 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AX-A0J1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |