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 |
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:00104989 | Breast | Precancer | proteasomal protein catabolic process | 58/1080 | 490/18723 | 1.54e-07 | 8.05e-06 | 58 |
GO:00431619 | Breast | Precancer | proteasome-mediated ubiquitin-dependent protein catabolic process | 42/1080 | 412/18723 | 2.49e-04 | 3.72e-03 | 42 |
GO:004586214 | Breast | IDC | positive regulation of proteolysis | 66/1434 | 372/18723 | 9.76e-11 | 1.29e-08 | 66 |
GO:001049814 | Breast | IDC | proteasomal protein catabolic process | 75/1434 | 490/18723 | 5.59e-09 | 4.41e-07 | 75 |
GO:004217614 | Breast | IDC | regulation of protein catabolic process | 63/1434 | 391/18723 | 1.32e-08 | 9.61e-07 | 63 |
GO:190336214 | Breast | IDC | regulation of cellular protein catabolic process | 46/1434 | 255/18723 | 4.00e-08 | 2.68e-06 | 46 |
GO:190305014 | Breast | IDC | regulation of proteolysis involved in cellular protein catabolic process | 41/1434 | 221/18723 | 9.77e-08 | 5.84e-06 | 41 |
GO:006113614 | Breast | IDC | regulation of proteasomal protein catabolic process | 33/1434 | 187/18723 | 5.24e-06 | 1.75e-04 | 33 |
GO:190336414 | Breast | IDC | positive regulation of cellular protein catabolic process | 29/1434 | 155/18723 | 5.93e-06 | 1.90e-04 | 29 |
GO:200005814 | Breast | IDC | regulation of ubiquitin-dependent protein catabolic process | 30/1434 | 164/18723 | 6.62e-06 | 2.05e-04 | 30 |
GO:004316114 | Breast | IDC | proteasome-mediated ubiquitin-dependent protein catabolic process | 57/1434 | 412/18723 | 9.55e-06 | 2.68e-04 | 57 |
GO:004573214 | Breast | IDC | positive regulation of protein catabolic process | 37/1434 | 231/18723 | 1.46e-05 | 3.71e-04 | 37 |
GO:190305213 | Breast | IDC | positive regulation of proteolysis involved in cellular protein catabolic process | 25/1434 | 133/18723 | 2.34e-05 | 5.59e-04 | 25 |
GO:190180014 | Breast | IDC | positive regulation of proteasomal protein catabolic process | 22/1434 | 114/18723 | 4.68e-05 | 1.04e-03 | 22 |
GO:000989614 | Breast | IDC | positive regulation of catabolic process | 62/1434 | 492/18723 | 7.06e-05 | 1.42e-03 | 62 |
GO:003243414 | Breast | IDC | regulation of proteasomal ubiquitin-dependent protein catabolic process | 24/1434 | 134/18723 | 7.59e-05 | 1.50e-03 | 24 |
GO:00324368 | Breast | IDC | positive regulation of proteasomal ubiquitin-dependent protein catabolic process | 18/1434 | 90/18723 | 1.39e-04 | 2.48e-03 | 18 |
GO:20000609 | Breast | IDC | positive regulation of ubiquitin-dependent protein catabolic process | 20/1434 | 107/18723 | 1.61e-04 | 2.76e-03 | 20 |
GO:003133114 | Breast | IDC | positive regulation of cellular catabolic process | 54/1434 | 427/18723 | 1.85e-04 | 3.07e-03 | 54 |
GO:004586224 | Breast | DCIS | positive regulation of proteolysis | 65/1390 | 372/18723 | 7.13e-11 | 9.17e-09 | 65 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa040142 | Cervix | CC | Ras signaling pathway | 51/1267 | 236/8465 | 3.55e-03 | 1.34e-02 | 7.91e-03 | 51 |
hsa040109 | Cervix | CC | MAPK signaling pathway | 62/1267 | 302/8465 | 4.89e-03 | 1.67e-02 | 9.86e-03 | 62 |
hsa0401411 | Cervix | CC | Ras signaling pathway | 51/1267 | 236/8465 | 3.55e-03 | 1.34e-02 | 7.91e-03 | 51 |
hsa0401012 | Cervix | CC | MAPK signaling pathway | 62/1267 | 302/8465 | 4.89e-03 | 1.67e-02 | 9.86e-03 | 62 |
hsa01521 | Colorectum | AD | EGFR tyrosine kinase inhibitor resistance | 29/2092 | 79/8465 | 1.15e-02 | 4.24e-02 | 2.71e-02 | 29 |
hsa015211 | Colorectum | AD | EGFR tyrosine kinase inhibitor resistance | 29/2092 | 79/8465 | 1.15e-02 | 4.24e-02 | 2.71e-02 | 29 |
hsa015212 | Colorectum | FAP | EGFR tyrosine kinase inhibitor resistance | 26/1404 | 79/8465 | 2.69e-04 | 2.19e-03 | 1.33e-03 | 26 |
hsa04010 | Colorectum | FAP | MAPK signaling pathway | 68/1404 | 302/8465 | 4.00e-03 | 1.67e-02 | 1.02e-02 | 68 |
hsa015213 | Colorectum | FAP | EGFR tyrosine kinase inhibitor resistance | 26/1404 | 79/8465 | 2.69e-04 | 2.19e-03 | 1.33e-03 | 26 |
hsa040101 | Colorectum | FAP | MAPK signaling pathway | 68/1404 | 302/8465 | 4.00e-03 | 1.67e-02 | 1.02e-02 | 68 |
hsa015214 | Colorectum | CRC | EGFR tyrosine kinase inhibitor resistance | 22/1091 | 79/8465 | 2.89e-04 | 3.45e-03 | 2.34e-03 | 22 |
hsa04014 | Colorectum | CRC | Ras signaling pathway | 49/1091 | 236/8465 | 4.04e-04 | 4.50e-03 | 3.05e-03 | 49 |
hsa040102 | Colorectum | CRC | MAPK signaling pathway | 56/1091 | 302/8465 | 2.76e-03 | 1.77e-02 | 1.20e-02 | 56 |
hsa015215 | Colorectum | CRC | EGFR tyrosine kinase inhibitor resistance | 22/1091 | 79/8465 | 2.89e-04 | 3.45e-03 | 2.34e-03 | 22 |
hsa040141 | Colorectum | CRC | Ras signaling pathway | 49/1091 | 236/8465 | 4.04e-04 | 4.50e-03 | 3.05e-03 | 49 |
hsa040103 | Colorectum | CRC | MAPK signaling pathway | 56/1091 | 302/8465 | 2.76e-03 | 1.77e-02 | 1.20e-02 | 56 |
hsa0152110 | Esophagus | ESCC | EGFR tyrosine kinase inhibitor resistance | 55/4205 | 79/8465 | 2.44e-04 | 8.78e-04 | 4.50e-04 | 55 |
hsa0152115 | Esophagus | ESCC | EGFR tyrosine kinase inhibitor resistance | 55/4205 | 79/8465 | 2.44e-04 | 8.78e-04 | 4.50e-04 | 55 |
hsa015216 | Liver | Cirrhotic | EGFR tyrosine kinase inhibitor resistance | 35/2530 | 79/8465 | 4.50e-03 | 1.70e-02 | 1.05e-02 | 35 |
hsa0152111 | Liver | Cirrhotic | EGFR tyrosine kinase inhibitor resistance | 35/2530 | 79/8465 | 4.50e-03 | 1.70e-02 | 1.05e-02 | 35 |
TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
NF1 | ISLET | Pancreas | Healthy | PWRN1,TMEM260,LRIG3, etc. | 2.22e-02 | |
NF1 | MSC | Prostate | ADJ | CCDC102B,NARS2,CADPS, etc. | 4.55e-02 | |
NF1 | MSC | Prostate | BPH | CCDC102B,NARS2,CADPS, etc. | 2.75e-03 | |
NF1 | FIB | Prostate | Healthy | CCDC102B,NARS2,CADPS, etc. | 7.69e-03 | |
NF1 | MSC | Prostate | Tumor | CCDC102B,NARS2,CADPS, etc. | 1.59e-02 | |
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 |
NF1 | SNV | Missense_Mutation | rs137854557 | c.1466N>G | p.Tyr489Cys | p.Y489C | P21359 | protein_coding | tolerated(0.08) | benign(0.007) | TCGA-L9-A743-01 | Lung | lung adenocarcinoma | Male | <65 | I/II | Chemotherapy | taxotere | CR |
NF1 | SNV | Missense_Mutation | | c.2836G>T | p.Asp946Tyr | p.D946Y | P21359 | protein_coding | deleterious(0) | possibly_damaging(0.897) | TCGA-MP-A4SY-01 | Lung | lung adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | PD |
NF1 | SNV | Missense_Mutation | | c.7895N>T | p.Asp2632Val | p.D2632V | P21359 | protein_coding | deleterious(0) | probably_damaging(0.944) | TCGA-18-3412-01 | Lung | lung squamous cell carcinoma | Male | <65 | I/II | Chemotherapy | vinorelbine | PD |
NF1 | SNV | Missense_Mutation | | c.543N>T | p.Gln181His | p.Q181H | P21359 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-18-4721-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
NF1 | SNV | Missense_Mutation | novel | c.4423G>A | p.Ala1475Thr | p.A1475T | P21359 | protein_coding | tolerated(0.15) | benign(0.011) | TCGA-21-1080-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
NF1 | SNV | Missense_Mutation | novel | c.7717G>T | p.Ala2573Ser | p.A2573S | P21359 | protein_coding | tolerated_low_confidence(0.36) | benign(0.001) | TCGA-21-1080-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
NF1 | SNV | Missense_Mutation | novel | c.2098N>C | p.Thr700Pro | p.T700P | P21359 | protein_coding | tolerated(0.16) | benign(0) | TCGA-22-1002-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
NF1 | SNV | Missense_Mutation | rs876659418 | c.373C>T | p.Arg125Cys | p.R125C | P21359 | protein_coding | tolerated(0.17) | possibly_damaging(0.838) | TCGA-22-4594-01 | Lung | lung squamous cell carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
NF1 | SNV | Missense_Mutation | rs762935987 | c.5941N>G | p.Met1981Val | p.M1981V | P21359 | protein_coding | deleterious(0) | benign(0.024) | TCGA-22-4604-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Targeted Molecular therapy | iressa | PD |
NF1 | SNV | Missense_Mutation | | c.245N>G | p.Ser82Cys | p.S82C | P21359 | protein_coding | deleterious(0) | probably_damaging(0.979) | TCGA-22-5471-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
4763 | NF1 | CLINICALLY ACTIONABLE, DRUG RESISTANCE | | MEK162 | BINIMETINIB | |
4763 | NF1 | CLINICALLY ACTIONABLE, DRUG RESISTANCE | | VEMURAFENIB | VEMURAFENIB | 23288408 |
4763 | NF1 | CLINICALLY ACTIONABLE, DRUG RESISTANCE | | PD-325901 | | |
4763 | NF1 | CLINICALLY ACTIONABLE, DRUG RESISTANCE | | SELUMETINIB | SELUMETINIB | |
4763 | NF1 | CLINICALLY ACTIONABLE, DRUG RESISTANCE | | MEK INHIBITOR PD0325901 | | 23171796 |
4763 | NF1 | CLINICALLY ACTIONABLE, DRUG RESISTANCE | | JQ1 COMPOUND | | 24373973 |
4763 | NF1 | CLINICALLY ACTIONABLE, DRUG RESISTANCE | | SIROLIMUS | SIROLIMUS | 23171796 |
4763 | NF1 | CLINICALLY ACTIONABLE, DRUG RESISTANCE | | TRAMETINIB | TRAMETINIB | 29127119 |
4763 | NF1 | CLINICALLY ACTIONABLE, DRUG RESISTANCE | | Trametinib | TRAMETINIB | |
4763 | NF1 | CLINICALLY ACTIONABLE, DRUG RESISTANCE | | Cobimetinib | COBIMETINIB | |