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 |
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:004593613 | Lung | AIS | negative regulation of phosphate metabolic process | 75/1849 | 441/18723 | 1.93e-06 | 1.12e-04 | 75 |
GO:001056313 | Lung | AIS | negative regulation of phosphorus metabolic process | 75/1849 | 442/18723 | 2.11e-06 | 1.20e-04 | 75 |
GO:001820912 | Lung | AIS | peptidyl-serine modification | 61/1849 | 338/18723 | 2.49e-06 | 1.41e-04 | 61 |
GO:000641713 | Lung | AIS | regulation of translation | 78/1849 | 468/18723 | 2.68e-06 | 1.49e-04 | 78 |
GO:003286912 | Lung | AIS | cellular response to insulin stimulus | 42/1849 | 203/18723 | 2.80e-06 | 1.52e-04 | 42 |
GO:001821012 | Lung | AIS | peptidyl-threonine modification | 30/1849 | 125/18723 | 3.29e-06 | 1.74e-04 | 30 |
GO:000002813 | Lung | AIS | ribosomal small subunit assembly | 10/1849 | 19/18723 | 3.44e-06 | 1.81e-04 | 10 |
GO:004277011 | Lung | AIS | signal transduction in response to DNA damage | 37/1849 | 172/18723 | 4.17e-06 | 2.13e-04 | 37 |
GO:004343413 | Lung | AIS | response to peptide hormone | 70/1849 | 414/18723 | 5.19e-06 | 2.48e-04 | 70 |
GO:001810712 | Lung | AIS | peptidyl-threonine phosphorylation | 28/1849 | 116/18723 | 6.14e-06 | 2.82e-04 | 28 |
GO:003410113 | Lung | AIS | erythrocyte homeostasis | 30/1849 | 129/18723 | 6.51e-06 | 2.92e-04 | 30 |
GO:004232613 | Lung | AIS | negative regulation of phosphorylation | 65/1849 | 385/18723 | 1.17e-05 | 4.69e-04 | 65 |
GO:003021813 | Lung | AIS | erythrocyte differentiation | 28/1849 | 120/18723 | 1.22e-05 | 4.71e-04 | 28 |
GO:004227413 | Lung | AIS | ribosomal small subunit biogenesis | 20/1849 | 73/18723 | 1.77e-05 | 6.17e-04 | 20 |
GO:004477211 | Lung | AIS | mitotic cell cycle phase transition | 69/1849 | 424/18723 | 2.23e-05 | 7.42e-04 | 69 |
GO:003009913 | Lung | AIS | myeloid cell differentiation | 63/1849 | 381/18723 | 3.05e-05 | 9.70e-04 | 63 |
GO:004886312 | Lung | AIS | stem cell differentiation | 39/1849 | 206/18723 | 5.25e-05 | 1.51e-03 | 39 |
GO:000226213 | Lung | AIS | myeloid cell homeostasis | 32/1849 | 157/18723 | 5.57e-05 | 1.57e-03 | 32 |
GO:000193313 | Lung | AIS | negative regulation of protein phosphorylation | 57/1849 | 342/18723 | 5.71e-05 | 1.60e-03 | 57 |
GO:000931411 | Lung | AIS | response to radiation | 71/1849 | 456/18723 | 7.33e-05 | 1.91e-03 | 71 |
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 |
PRKDC | SNV | Missense_Mutation | | c.1855G>C | p.Asp619His | p.D619H | P78527 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-3C-AALI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Poly E | Complete Response |
PRKDC | SNV | Missense_Mutation | novel | c.3658N>G | p.Leu1220Val | p.L1220V | P78527 | protein_coding | deleterious(0.01) | possibly_damaging(0.622) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
PRKDC | SNV | Missense_Mutation | novel | c.1504N>A | p.Glu502Lys | p.E502K | P78527 | protein_coding | tolerated(0.18) | benign(0.076) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
PRKDC | SNV | Missense_Mutation | novel | c.5396N>G | p.Glu1799Gly | p.E1799G | P78527 | protein_coding | tolerated(0.13) | benign(0.118) | TCGA-A2-A0EQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
PRKDC | SNV | Missense_Mutation | | c.9458C>G | p.Ser3153Cys | p.S3153C | P78527 | protein_coding | deleterious(0) | possibly_damaging(0.907) | TCGA-A7-A13D-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
PRKDC | SNV | Missense_Mutation | novel | c.5745N>C | p.Leu1915Phe | p.L1915F | P78527 | protein_coding | deleterious(0) | probably_damaging(0.914) | TCGA-A7-A6VV-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | CR |
PRKDC | SNV | Missense_Mutation | | c.2706A>T | p.Lys902Asn | p.K902N | P78527 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-A7-A6VX-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | docetaxel | CR |
PRKDC | SNV | Missense_Mutation | | c.2210N>T | p.Pro737Leu | p.P737L | P78527 | protein_coding | deleterious(0.01) | benign(0.354) | TCGA-A8-A099-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | exemestane | SD |
PRKDC | SNV | Missense_Mutation | | c.6367N>T | p.Pro2123Ser | p.P2123S | P78527 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
PRKDC | SNV | Missense_Mutation | | c.3394N>A | p.Asp1132Asn | p.D1132N | P78527 | protein_coding | tolerated(0.21) | benign(0.055) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
5591 | PRKDC | TRANSCRIPTION FACTOR COMPLEX, SERINE THREONINE KINASE, KINASE, DRUGGABLE GENOME, ENZYME, PHOSPHATIDYLINOSITOL 3 KINASE, CLINICALLY ACTIONABLE | inhibitor | 252827496 | | |
5591 | PRKDC | TRANSCRIPTION FACTOR COMPLEX, SERINE THREONINE KINASE, KINASE, DRUGGABLE GENOME, ENZYME, PHOSPHATIDYLINOSITOL 3 KINASE, CLINICALLY ACTIONABLE | | M9831 | | |
5591 | PRKDC | TRANSCRIPTION FACTOR COMPLEX, SERINE THREONINE KINASE, KINASE, DRUGGABLE GENOME, ENZYME, PHOSPHATIDYLINOSITOL 3 KINASE, CLINICALLY ACTIONABLE | | KU-0060648 | CHEMBL1086377 | 23855836 |
5591 | PRKDC | TRANSCRIPTION FACTOR COMPLEX, SERINE THREONINE KINASE, KINASE, DRUGGABLE GENOME, ENZYME, PHOSPHATIDYLINOSITOL 3 KINASE, CLINICALLY ACTIONABLE | inhibitor | 178102582 | | |
5591 | PRKDC | TRANSCRIPTION FACTOR COMPLEX, SERINE THREONINE KINASE, KINASE, DRUGGABLE GENOME, ENZYME, PHOSPHATIDYLINOSITOL 3 KINASE, CLINICALLY ACTIONABLE | inhibitor | 249565693 | | |
5591 | PRKDC | TRANSCRIPTION FACTOR COMPLEX, SERINE THREONINE KINASE, KINASE, DRUGGABLE GENOME, ENZYME, PHOSPHATIDYLINOSITOL 3 KINASE, CLINICALLY ACTIONABLE | inhibitor | 354702239 | | |
5591 | PRKDC | TRANSCRIPTION FACTOR COMPLEX, SERINE THREONINE KINASE, KINASE, DRUGGABLE GENOME, ENZYME, PHOSPHATIDYLINOSITOL 3 KINASE, CLINICALLY ACTIONABLE | inhibitor | 178102681 | WORTMANNIN | |
5591 | PRKDC | TRANSCRIPTION FACTOR COMPLEX, SERINE THREONINE KINASE, KINASE, DRUGGABLE GENOME, ENZYME, PHOSPHATIDYLINOSITOL 3 KINASE, CLINICALLY ACTIONABLE | | SF1126 | | |
5591 | PRKDC | TRANSCRIPTION FACTOR COMPLEX, SERINE THREONINE KINASE, KINASE, DRUGGABLE GENOME, ENZYME, PHOSPHATIDYLINOSITOL 3 KINASE, CLINICALLY ACTIONABLE | inhibitor | 249565692 | | |
5591 | PRKDC | TRANSCRIPTION FACTOR COMPLEX, SERINE THREONINE KINASE, KINASE, DRUGGABLE GENOME, ENZYME, PHOSPHATIDYLINOSITOL 3 KINASE, CLINICALLY ACTIONABLE | inhibitor | 404859048 | | |