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:001049810 | Cervix | CC | proteasomal protein catabolic process | 111/2311 | 490/18723 | 8.98e-11 | 1.58e-08 | 111 |
GO:002240710 | Cervix | CC | regulation of cell-cell adhesion | 103/2311 | 448/18723 | 1.78e-10 | 2.87e-08 | 103 |
GO:190332010 | Cervix | CC | regulation of protein modification by small protein conjugation or removal | 66/2311 | 242/18723 | 2.31e-10 | 3.46e-08 | 66 |
GO:003139610 | Cervix | CC | regulation of protein ubiquitination | 59/2311 | 210/18723 | 5.90e-10 | 7.51e-08 | 59 |
GO:00421108 | Cervix | CC | T cell activation | 107/2311 | 487/18723 | 1.24e-09 | 1.46e-07 | 107 |
GO:00508638 | Cervix | CC | regulation of T cell activation | 80/2311 | 329/18723 | 1.28e-09 | 1.47e-07 | 80 |
GO:00071598 | Cervix | CC | leukocyte cell-cell adhesion | 85/2311 | 371/18723 | 8.27e-09 | 7.07e-07 | 85 |
GO:004316110 | Cervix | CC | proteasome-mediated ubiquitin-dependent protein catabolic process | 91/2311 | 412/18723 | 1.65e-08 | 1.25e-06 | 91 |
GO:00071626 | Cervix | CC | negative regulation of cell adhesion | 72/2311 | 303/18723 | 2.36e-08 | 1.70e-06 | 72 |
GO:00026837 | Cervix | CC | negative regulation of immune system process | 94/2311 | 434/18723 | 2.63e-08 | 1.87e-06 | 94 |
GO:19030378 | Cervix | CC | regulation of leukocyte cell-cell adhesion | 77/2311 | 336/18723 | 4.08e-08 | 2.54e-06 | 77 |
GO:00027644 | Cervix | CC | immune response-regulating signaling pathway | 97/2311 | 468/18723 | 1.49e-07 | 7.07e-06 | 97 |
GO:00002097 | Cervix | CC | protein polyubiquitination | 58/2311 | 236/18723 | 1.57e-07 | 7.41e-06 | 58 |
GO:00018197 | Cervix | CC | positive regulation of cytokine production | 95/2311 | 467/18723 | 4.88e-07 | 1.85e-05 | 95 |
GO:00022379 | Cervix | CC | response to molecule of bacterial origin | 78/2311 | 363/18723 | 5.55e-07 | 2.06e-05 | 78 |
GO:00324969 | Cervix | CC | response to lipopolysaccharide | 74/2311 | 343/18723 | 9.15e-07 | 3.25e-05 | 74 |
GO:00420988 | Cervix | CC | T cell proliferation | 49/2311 | 199/18723 | 1.32e-06 | 4.49e-05 | 49 |
GO:00224084 | Cervix | CC | negative regulation of cell-cell adhesion | 48/2311 | 196/18723 | 1.99e-06 | 6.18e-05 | 48 |
GO:00421297 | Cervix | CC | regulation of T cell proliferation | 43/2311 | 171/18723 | 3.21e-06 | 8.77e-05 | 43 |
GO:00510904 | Cervix | CC | regulation of DNA-binding transcription factor activity | 87/2311 | 440/18723 | 4.85e-06 | 1.22e-04 | 87 |
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 |
PELI1 | SNV | Missense_Mutation | | c.1156N>T | p.His386Tyr | p.H386Y | Q96FA3 | protein_coding | deleterious(0.02) | probably_damaging(0.998) | TCGA-A2-A0EY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
PELI1 | SNV | Missense_Mutation | rs761769713 | c.977G>A | p.Arg326His | p.R326H | Q96FA3 | protein_coding | deleterious(0.04) | possibly_damaging(0.506) | TCGA-AO-A0J4-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
PELI1 | insertion | Frame_Shift_Ins | novel | c.346_347insCCTACGTGAAACCAGATCGGCTCAGCAGAGAGGA | p.Asp116AlafsTer20 | p.D116Afs*20 | Q96FA3 | protein_coding | | | TCGA-AR-A0TY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | PD |
PELI1 | insertion | Frame_Shift_Ins | novel | c.340_341insC | p.Val114AlafsTer3 | p.V114Afs*3 | Q96FA3 | protein_coding | | | TCGA-B6-A0IB-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
PELI1 | insertion | Frame_Shift_Ins | novel | c.339_340insCTCATACTTTTCATGCAGCCTGTCCCTTTTGTGCACATCAGTTG | p.Val114LeufsTer16 | p.V114Lfs*16 | Q96FA3 | protein_coding | | | TCGA-B6-A0IB-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
PELI1 | SNV | Missense_Mutation | | c.1181C>T | p.Ala394Val | p.A394V | Q96FA3 | protein_coding | tolerated(0.84) | benign(0.284) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
PELI1 | SNV | Missense_Mutation | | c.1174N>T | p.His392Tyr | p.H392Y | Q96FA3 | protein_coding | deleterious(0.01) | possibly_damaging(0.876) | TCGA-DS-A1OC-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | gemcitabine | SD |
PELI1 | SNV | Missense_Mutation | rs761769713 | c.977N>A | p.Arg326His | p.R326H | Q96FA3 | protein_coding | deleterious(0.04) | possibly_damaging(0.506) | TCGA-MA-AA42-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |
PELI1 | SNV | Missense_Mutation | | c.895N>A | p.Val299Ile | p.V299I | Q96FA3 | protein_coding | tolerated(0.31) | benign(0.007) | TCGA-A6-6654-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Chemotherapy | oxaliplatin | SD |
PELI1 | SNV | Missense_Mutation | rs768293813 | c.859A>G | p.Asn287Asp | p.N287D | Q96FA3 | protein_coding | deleterious(0) | possibly_damaging(0.627) | TCGA-AA-3833-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |