Tissue | Expression Dynamics | Abbreviation |
Breast | | IDC: Invasive ductal carcinoma |
DCIS: Ductal carcinoma in situ |
Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers |
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 |
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 |
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 |
PNISR | SNV | Missense_Mutation | rs546698386 | c.1698N>G | p.Ile566Met | p.I566M | Q8TF01 | protein_coding | tolerated_low_confidence(0.17) | benign(0) | TCGA-LD-A74U-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | taxotere | SD |
PNISR | SNV | Missense_Mutation | novel | c.1375N>C | p.Ile459Leu | p.I459L | Q8TF01 | protein_coding | tolerated_low_confidence(0.4) | benign(0.001) | TCGA-UL-AAZ6-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | herceptin | SD |
PNISR | insertion | In_Frame_Ins | novel | c.522_523insGAAGAAATTGGAGAAAGAAAGAATGGAACAACAACG | p.Pro174_Pro175insGluGluIleGlyGluArgLysAsnGlyThrThrThr | p.P174_P175insEEIGERKNGTTT | Q8TF01 | protein_coding | | | TCGA-A2-A04V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | PD |
PNISR | insertion | Frame_Shift_Ins | novel | c.1491_1492insA | p.Glu498ArgfsTer3 | p.E498Rfs*3 | Q8TF01 | protein_coding | | | TCGA-BH-A18G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PNISR | deletion | Frame_Shift_Del | | c.1491delN | p.Glu498SerfsTer85 | p.E498Sfs*85 | Q8TF01 | protein_coding | | | TCGA-D8-A1J8-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | nolvadex | SD |
PNISR | SNV | Missense_Mutation | | c.1828C>T | p.Arg610Trp | p.R610W | Q8TF01 | protein_coding | tolerated_low_confidence(0.08) | benign(0.007) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
PNISR | SNV | Missense_Mutation | rs143514007 | c.1087C>T | p.Arg363Cys | p.R363C | Q8TF01 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-C5-A2LZ-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Unknown | Unknown | PD |
PNISR | SNV | Missense_Mutation | | c.1526N>C | p.Arg509Thr | p.R509T | Q8TF01 | protein_coding | tolerated_low_confidence(0.25) | benign(0.065) | TCGA-EK-A2RK-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |
PNISR | SNV | Missense_Mutation | | c.1828N>T | p.Arg610Trp | p.R610W | Q8TF01 | protein_coding | tolerated_low_confidence(0.08) | benign(0.007) | TCGA-FU-A3WB-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
PNISR | SNV | Missense_Mutation | | c.880G>A | p.Glu294Lys | p.E294K | Q8TF01 | protein_coding | tolerated(0.21) | benign(0.015) | TCGA-IR-A3LA-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |