Tissue | Expression Dynamics | Abbreviation |
Esophagus | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Esophagus/USP40_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Liver | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Liver/USP40_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Lung | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Lung/USP40_pca_on_diff_genes.png) | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
Thyroid | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Thyroid/USP40_pca_on_diff_genes.png) | 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:0031647111 | Esophagus | ESCC | regulation of protein stability | 223/8552 | 298/18723 | 5.76e-25 | 1.52e-22 | 223 |
GO:007064612 | Esophagus | ESCC | protein modification by small protein removal | 95/8552 | 157/18723 | 1.25e-04 | 8.56e-04 | 95 |
GO:00165793 | Esophagus | ESCC | protein deubiquitination | 79/8552 | 139/18723 | 5.23e-03 | 1.97e-02 | 79 |
GO:00316477 | Liver | NAFLD | regulation of protein stability | 61/1882 | 298/18723 | 5.00e-08 | 4.71e-06 | 61 |
GO:0070646 | Liver | NAFLD | protein modification by small protein removal | 29/1882 | 157/18723 | 9.11e-04 | 1.09e-02 | 29 |
GO:0016579 | Liver | NAFLD | protein deubiquitination | 26/1882 | 139/18723 | 1.35e-03 | 1.52e-02 | 26 |
GO:003164722 | Liver | HCC | regulation of protein stability | 211/7958 | 298/18723 | 2.29e-23 | 5.01e-21 | 211 |
GO:00706461 | Liver | HCC | protein modification by small protein removal | 91/7958 | 157/18723 | 6.50e-05 | 5.92e-04 | 91 |
GO:00165791 | Liver | HCC | protein deubiquitination | 78/7958 | 139/18723 | 8.13e-04 | 4.87e-03 | 78 |
GO:00316478 | Lung | IAC | regulation of protein stability | 62/2061 | 298/18723 | 5.37e-07 | 3.32e-05 | 62 |
GO:003164713 | Lung | AIS | regulation of protein stability | 62/1849 | 298/18723 | 1.06e-08 | 1.63e-06 | 62 |
GO:0031647113 | Thyroid | PTC | regulation of protein stability | 174/5968 | 298/18723 | 2.05e-21 | 4.05e-19 | 174 |
GO:00706465 | Thyroid | PTC | protein modification by small protein removal | 71/5968 | 157/18723 | 3.03e-04 | 2.12e-03 | 71 |
GO:00165794 | Thyroid | PTC | protein deubiquitination | 59/5968 | 139/18723 | 5.50e-03 | 2.50e-02 | 59 |
GO:003164734 | Thyroid | ATC | regulation of protein stability | 177/6293 | 298/18723 | 4.08e-20 | 6.46e-18 | 177 |
GO:007064613 | Thyroid | ATC | protein modification by small protein removal | 71/6293 | 157/18723 | 1.59e-03 | 7.99e-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 |
USP40 | SNV | Missense_Mutation | | c.1846N>A | p.Asp616Asn | p.D616N | Q9NVE5 | protein_coding | deleterious(0.05) | benign(0.191) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
USP40 | SNV | Missense_Mutation | novel | c.82N>C | p.Asn28His | p.N28H | Q9NVE5 | protein_coding | deleterious(0.03) | benign(0.412) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
USP40 | SNV | Missense_Mutation | novel | c.1227N>G | p.Ile409Met | p.I409M | Q9NVE5 | protein_coding | tolerated(0.07) | benign(0.031) | TCGA-B6-A0RS-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
USP40 | SNV | Missense_Mutation | | c.3391N>C | p.Ile1131Leu | p.I1131L | Q9NVE5 | protein_coding | tolerated(0.49) | benign(0.254) | TCGA-D8-A1XK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine+cyclophosphamide | SD |
USP40 | SNV | Missense_Mutation | novel | c.2138N>T | p.Thr713Met | p.T713M | Q9NVE5 | protein_coding | tolerated(0.11) | possibly_damaging(0.472) | TCGA-E9-A1ND-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | aromasin | SD |
USP40 | insertion | Frame_Shift_Ins | novel | c.3493_3494insTACCAAGACAAAGCAGAGAAGTCGGAGA | p.Gly1165ValfsTer24 | p.G1165Vfs*24 | Q9NVE5 | protein_coding | | | TCGA-A1-A0SO-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | | SD |
USP40 | insertion | Frame_Shift_Ins | novel | c.3206_3207insATCGAACGGATTCATCATTGCTCCCGTCGCTCTGCCCCCTTATTCT | p.Leu1070SerfsTer38 | p.L1070Sfs*38 | Q9NVE5 | protein_coding | | | TCGA-BH-A0EE-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | docetaxel | SD |
USP40 | deletion | Frame_Shift_Del | rs766340074 | c.3477delA | p.Lys1159AsnfsTer12 | p.K1159Nfs*12 | Q9NVE5 | protein_coding | | | TCGA-BH-A18G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
USP40 | deletion | Frame_Shift_Del | novel | c.3046delG | p.Ala1016ProfsTer2 | p.A1016Pfs*2 | Q9NVE5 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
USP40 | SNV | Missense_Mutation | novel | c.2434A>G | p.Arg812Gly | p.R812G | Q9NVE5 | protein_coding | deleterious(0) | probably_damaging(0.983) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |