Tissue | Expression Dynamics | Abbreviation |
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 |
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:003243433 | Oral cavity | NEOLP | regulation of proteasomal ubiquitin-dependent protein catabolic process | 38/2005 | 134/18723 | 1.19e-08 | 5.70e-07 | 38 |
GO:190336433 | Oral cavity | NEOLP | positive regulation of cellular protein catabolic process | 41/2005 | 155/18723 | 2.87e-08 | 1.22e-06 | 41 |
GO:006113632 | Oral cavity | NEOLP | regulation of proteasomal protein catabolic process | 46/2005 | 187/18723 | 4.76e-08 | 1.95e-06 | 46 |
GO:000189231 | Oral cavity | NEOLP | embryonic placenta development | 27/2005 | 82/18723 | 5.12e-08 | 2.08e-06 | 27 |
GO:000020931 | Oral cavity | NEOLP | protein polyubiquitination | 53/2005 | 236/18723 | 1.22e-07 | 4.38e-06 | 53 |
GO:003243632 | Oral cavity | NEOLP | positive regulation of proteasomal ubiquitin-dependent protein catabolic process | 26/2005 | 90/18723 | 1.58e-06 | 3.89e-05 | 26 |
GO:200006032 | Oral cavity | NEOLP | positive regulation of ubiquitin-dependent protein catabolic process | 29/2005 | 107/18723 | 1.72e-06 | 4.19e-05 | 29 |
GO:190313122 | Oral cavity | NEOLP | mononuclear cell differentiation | 77/2005 | 426/18723 | 2.80e-06 | 6.41e-05 | 77 |
GO:007265931 | Oral cavity | NEOLP | protein localization to plasma membrane | 56/2005 | 284/18723 | 4.51e-06 | 9.60e-05 | 56 |
GO:190180031 | Oral cavity | NEOLP | positive regulation of proteasomal protein catabolic process | 29/2005 | 114/18723 | 6.80e-06 | 1.36e-04 | 29 |
GO:190305232 | Oral cavity | NEOLP | positive regulation of proteolysis involved in cellular protein catabolic process | 32/2005 | 133/18723 | 8.26e-06 | 1.60e-04 | 32 |
GO:199077831 | Oral cavity | NEOLP | protein localization to cell periphery | 62/2005 | 333/18723 | 9.84e-06 | 1.86e-04 | 62 |
GO:003009821 | Oral cavity | NEOLP | lymphocyte differentiation | 66/2005 | 374/18723 | 3.08e-05 | 4.67e-04 | 66 |
GO:00485686 | Oral cavity | NEOLP | embryonic organ development | 71/2005 | 427/18723 | 1.12e-04 | 1.34e-03 | 71 |
GO:007053421 | Oral cavity | NEOLP | protein K63-linked ubiquitination | 16/2005 | 56/18723 | 1.80e-04 | 1.97e-03 | 16 |
GO:00032312 | Oral cavity | NEOLP | cardiac ventricle development | 27/2005 | 123/18723 | 2.14e-04 | 2.27e-03 | 27 |
GO:0060840 | Oral cavity | NEOLP | artery development | 23/2005 | 100/18723 | 3.00e-04 | 2.97e-03 | 23 |
GO:00032814 | Oral cavity | NEOLP | ventricular septum development | 17/2005 | 71/18723 | 1.10e-03 | 8.28e-03 | 17 |
GO:000317011 | Oral cavity | NEOLP | heart valve development | 16/2005 | 65/18723 | 1.11e-03 | 8.33e-03 | 16 |
GO:00032053 | Oral cavity | NEOLP | cardiac chamber development | 30/2005 | 161/18723 | 1.78e-03 | 1.22e-02 | 30 |
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 |
HECTD1 | SNV | Missense_Mutation | | c.6715N>A | p.Glu2239Lys | p.E2239K | Q9ULT8 | protein_coding | tolerated(0.11) | probably_damaging(0.973) | TCGA-A2-A0YK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
HECTD1 | SNV | Missense_Mutation | | c.140N>G | p.Thr47Arg | p.T47R | Q9ULT8 | protein_coding | deleterious(0.01) | benign(0.148) | TCGA-A2-A0YM-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
HECTD1 | SNV | Missense_Mutation | | c.2228N>G | p.Pro743Arg | p.P743R | Q9ULT8 | protein_coding | deleterious(0) | possibly_damaging(0.896) | TCGA-A8-A08P-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | 5-fluorouracil | CR |
HECTD1 | SNV | Missense_Mutation | | c.5992G>C | p.Glu1998Gln | p.E1998Q | Q9ULT8 | protein_coding | deleterious(0.01) | benign(0.115) | TCGA-A8-A095-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
HECTD1 | SNV | Missense_Mutation | rs755152978 | c.3005N>A | p.Arg1002Gln | p.R1002Q | Q9ULT8 | protein_coding | deleterious(0) | probably_damaging(0.916) | TCGA-A8-A09W-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
HECTD1 | SNV | Missense_Mutation | rs748524391 | c.4411N>T | p.Arg1471Cys | p.R1471C | Q9ULT8 | protein_coding | deleterious(0.02) | benign(0.336) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
HECTD1 | SNV | Missense_Mutation | | c.1259N>T | p.Ala420Val | p.A420V | Q9ULT8 | protein_coding | deleterious(0) | probably_damaging(0.982) | TCGA-AO-A0J9-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | PD |
HECTD1 | SNV | Missense_Mutation | | c.1510G>A | p.Glu504Lys | p.E504K | Q9ULT8 | protein_coding | tolerated(0.26) | benign(0.009) | TCGA-AR-A0TP-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
HECTD1 | SNV | Missense_Mutation | | c.4696C>G | p.Leu1566Val | p.L1566V | Q9ULT8 | protein_coding | tolerated(0.29) | probably_damaging(0.931) | TCGA-B6-A0RG-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
HECTD1 | SNV | Missense_Mutation | novel | c.3858N>T | p.Trp1286Cys | p.W1286C | Q9ULT8 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-BH-A2L8-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | CR |