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 |
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:00457859 | Breast | Precancer | positive regulation of cell adhesion | 52/1080 | 437/18723 | 5.74e-07 | 2.49e-05 | 52 |
GO:00507293 | Breast | Precancer | positive regulation of inflammatory response | 23/1080 | 142/18723 | 6.51e-06 | 1.81e-04 | 23 |
GO:0050727 | Breast | Precancer | regulation of inflammatory response | 44/1080 | 386/18723 | 1.26e-05 | 3.22e-04 | 44 |
GO:00421107 | Breast | Precancer | T cell activation | 52/1080 | 487/18723 | 1.37e-05 | 3.42e-04 | 52 |
GO:00508707 | Breast | Precancer | positive regulation of T cell activation | 29/1080 | 216/18723 | 1.94e-05 | 4.58e-04 | 29 |
GO:00321034 | Breast | Precancer | positive regulation of response to external stimulus | 46/1080 | 427/18723 | 3.41e-05 | 7.40e-04 | 46 |
GO:19037069 | Breast | Precancer | regulation of hemopoiesis | 41/1080 | 367/18723 | 3.95e-05 | 8.52e-04 | 41 |
GO:19030396 | Breast | Precancer | positive regulation of leukocyte cell-cell adhesion | 30/1080 | 239/18723 | 5.13e-05 | 1.07e-03 | 30 |
GO:00313493 | Breast | Precancer | positive regulation of defense response | 33/1080 | 278/18723 | 6.79e-05 | 1.36e-03 | 33 |
GO:00508637 | Breast | Precancer | regulation of T cell activation | 37/1080 | 329/18723 | 8.04e-05 | 1.56e-03 | 37 |
GO:00224098 | Breast | Precancer | positive regulation of cell-cell adhesion | 33/1080 | 284/18723 | 1.03e-04 | 1.89e-03 | 33 |
GO:00071597 | Breast | Precancer | leukocyte cell-cell adhesion | 40/1080 | 371/18723 | 1.07e-04 | 1.94e-03 | 40 |
GO:19021055 | Breast | Precancer | regulation of leukocyte differentiation | 32/1080 | 279/18723 | 1.66e-04 | 2.74e-03 | 32 |
GO:00224079 | Breast | Precancer | regulation of cell-cell adhesion | 45/1080 | 448/18723 | 2.12e-04 | 3.30e-03 | 45 |
GO:19031313 | Breast | Precancer | mononuclear cell differentiation | 43/1080 | 426/18723 | 2.61e-04 | 3.84e-03 | 43 |
GO:19030377 | Breast | Precancer | regulation of leukocyte cell-cell adhesion | 36/1080 | 336/18723 | 2.61e-04 | 3.84e-03 | 36 |
GO:0030098 | Breast | Precancer | lymphocyte differentiation | 36/1080 | 374/18723 | 1.85e-03 | 1.81e-02 | 36 |
GO:0045619 | Breast | Precancer | regulation of lymphocyte differentiation | 20/1080 | 174/18723 | 2.54e-03 | 2.30e-02 | 20 |
GO:0030217 | Breast | Precancer | T cell differentiation | 26/1080 | 257/18723 | 3.89e-03 | 3.10e-02 | 26 |
GO:00508523 | Breast | Precancer | T cell receptor signaling pathway | 15/1080 | 123/18723 | 4.80e-03 | 3.64e-02 | 15 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa052028 | Esophagus | ESCC | Transcriptional misregulation in cancer | 116/4205 | 193/8465 | 2.08e-03 | 5.95e-03 | 3.05e-03 | 116 |
hsa0520213 | Esophagus | ESCC | Transcriptional misregulation in cancer | 116/4205 | 193/8465 | 2.08e-03 | 5.95e-03 | 3.05e-03 | 116 |
hsa052026 | Lung | IAC | Transcriptional misregulation in cancer | 40/1053 | 193/8465 | 6.90e-04 | 5.90e-03 | 3.92e-03 | 40 |
hsa0520211 | Lung | IAC | Transcriptional misregulation in cancer | 40/1053 | 193/8465 | 6.90e-04 | 5.90e-03 | 3.92e-03 | 40 |
hsa052022 | Lung | AIS | Transcriptional misregulation in cancer | 39/961 | 193/8465 | 2.15e-04 | 2.41e-03 | 1.54e-03 | 39 |
hsa052023 | Lung | AIS | Transcriptional misregulation in cancer | 39/961 | 193/8465 | 2.15e-04 | 2.41e-03 | 1.54e-03 | 39 |
hsa052024 | Lung | MIAC | Transcriptional misregulation in cancer | 22/507 | 193/8465 | 2.64e-03 | 2.26e-02 | 1.64e-02 | 22 |
hsa052025 | Lung | MIAC | Transcriptional misregulation in cancer | 22/507 | 193/8465 | 2.64e-03 | 2.26e-02 | 1.64e-02 | 22 |
hsa052027 | Prostate | BPH | Transcriptional misregulation in cancer | 53/1718 | 193/8465 | 9.56e-03 | 2.92e-02 | 1.81e-02 | 53 |
hsa0520212 | Prostate | BPH | Transcriptional misregulation in cancer | 53/1718 | 193/8465 | 9.56e-03 | 2.92e-02 | 1.81e-02 | 53 |
hsa0520221 | Prostate | Tumor | Transcriptional misregulation in cancer | 59/1791 | 193/8465 | 1.22e-03 | 5.26e-03 | 3.26e-03 | 59 |
hsa0520231 | Prostate | Tumor | Transcriptional misregulation in cancer | 59/1791 | 193/8465 | 1.22e-03 | 5.26e-03 | 3.26e-03 | 59 |
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 |
NFKBIZ | SNV | Missense_Mutation | | c.727N>C | p.Val243Leu | p.V243L | Q9BYH8 | protein_coding | deleterious_low_confidence(0.03) | benign(0.015) | TCGA-A2-A0CX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
NFKBIZ | SNV | Missense_Mutation | | c.1165G>C | p.Glu389Gln | p.E389Q | Q9BYH8 | protein_coding | tolerated(0.29) | benign(0.056) | TCGA-A2-A0YK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
NFKBIZ | SNV | Missense_Mutation | novel | c.876N>C | p.Gln292His | p.Q292H | Q9BYH8 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.671) | TCGA-A7-A4SA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | CR |
NFKBIZ | SNV | Missense_Mutation | novel | c.1100A>G | p.Asn367Ser | p.N367S | Q9BYH8 | protein_coding | tolerated_low_confidence(0.65) | benign(0) | TCGA-A8-A09D-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | CR |
NFKBIZ | SNV | Missense_Mutation | novel | c.2083G>A | p.Asp695Asn | p.D695N | Q9BYH8 | protein_coding | tolerated(0.06) | probably_damaging(0.914) | TCGA-AR-A2LE-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | PD |
NFKBIZ | SNV | Missense_Mutation | | c.1621N>G | p.Gln541Glu | p.Q541E | Q9BYH8 | protein_coding | tolerated(0.06) | possibly_damaging(0.474) | TCGA-D8-A1XK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine+cyclophosphamide | SD |
NFKBIZ | SNV | Missense_Mutation | | c.1445N>T | p.Ser482Ile | p.S482I | Q9BYH8 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-E9-A1NA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
NFKBIZ | SNV | Missense_Mutation | novel | c.403N>G | p.Ser135Ala | p.S135A | Q9BYH8 | protein_coding | tolerated_low_confidence(0.07) | benign(0.003) | TCGA-GM-A3NY-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
NFKBIZ | insertion | Nonsense_Mutation | novel | c.1876_1877insAACATATAAGATGATATCTGTTTTGAAAGCTCCTGAAAGATTTTA | p.Leu626delinsGlnHisIleArgTerTyrLeuPheTerLysLeuLeuLysAspPheMet | p.L626delinsQHIR*YLF*KLLKDFM | Q9BYH8 | protein_coding | | | TCGA-A8-A07L-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | | CR |
NFKBIZ | insertion | Nonsense_Mutation | novel | c.791_792insAGATTTCAGATTTTCAGATTAGGGATACTCAACTGTATTATTA | p.Pro265AspfsTer7 | p.P265Dfs*7 | Q9BYH8 | protein_coding | | | TCGA-AO-A0J2-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |