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 |
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 |
GC | | CAG: Chronic atrophic gastritis |
CAG with IM: Chronic atrophic gastritis with intestinal metaplasia |
CSG: Chronic superficial gastritis |
GC: Gastric cancer |
SIM: Severe intestinal metaplasia |
WIM: Wild intestinal metaplasia |
Liver | | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
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:00105074 | Liver | HCC | negative regulation of autophagy | 57/7958 | 85/18723 | 4.10e-06 | 5.27e-05 | 57 |
GO:00192162 | Liver | HCC | regulation of lipid metabolic process | 181/7958 | 331/18723 | 4.58e-06 | 5.79e-05 | 181 |
GO:00973521 | Liver | HCC | autophagosome maturation | 30/7958 | 40/18723 | 3.04e-05 | 3.12e-04 | 30 |
GO:003010021 | Liver | HCC | regulation of endocytosis | 117/7958 | 211/18723 | 9.56e-05 | 8.32e-04 | 117 |
GO:0016242 | Liver | HCC | negative regulation of macroautophagy | 25/7958 | 34/18723 | 2.42e-04 | 1.81e-03 | 25 |
GO:00432444 | Liver | HCC | regulation of protein-containing complex disassembly | 66/7958 | 121/18723 | 4.94e-03 | 2.07e-02 | 66 |
GO:002241119 | Oral cavity | OSCC | cellular component disassembly | 283/7305 | 443/18723 | 9.57e-27 | 3.37e-24 | 283 |
GO:001623610 | Oral cavity | OSCC | macroautophagy | 192/7305 | 291/18723 | 7.01e-21 | 1.14e-18 | 192 |
GO:001050610 | Oral cavity | OSCC | regulation of autophagy | 198/7305 | 317/18723 | 1.63e-17 | 1.51e-15 | 198 |
GO:005134820 | Oral cavity | OSCC | negative regulation of transferase activity | 165/7305 | 268/18723 | 5.02e-14 | 2.74e-12 | 165 |
GO:001056320 | Oral cavity | OSCC | negative regulation of phosphorus metabolic process | 246/7305 | 442/18723 | 6.12e-13 | 2.89e-11 | 246 |
GO:004593620 | Oral cavity | OSCC | negative regulation of phosphate metabolic process | 245/7305 | 441/18723 | 8.85e-13 | 4.09e-11 | 245 |
GO:00162417 | Oral cavity | OSCC | regulation of macroautophagy | 96/7305 | 141/18723 | 2.33e-12 | 9.75e-11 | 96 |
GO:004232619 | Oral cavity | OSCC | negative regulation of phosphorylation | 214/7305 | 385/18723 | 2.30e-11 | 7.74e-10 | 214 |
GO:003298410 | Oral cavity | OSCC | protein-containing complex disassembly | 136/7305 | 224/18723 | 3.42e-11 | 1.13e-09 | 136 |
GO:000989519 | Oral cavity | OSCC | negative regulation of catabolic process | 180/7305 | 320/18723 | 2.44e-10 | 6.86e-09 | 180 |
GO:003367317 | Oral cavity | OSCC | negative regulation of kinase activity | 140/7305 | 237/18723 | 2.74e-10 | 7.57e-09 | 140 |
GO:003133020 | Oral cavity | OSCC | negative regulation of cellular catabolic process | 152/7305 | 262/18723 | 3.04e-10 | 8.28e-09 | 152 |
GO:00719855 | Oral cavity | OSCC | multivesicular body sorting pathway | 31/7305 | 37/18723 | 2.80e-08 | 5.41e-07 | 31 |
GO:003010016 | Oral cavity | OSCC | regulation of endocytosis | 121/7305 | 211/18723 | 4.74e-08 | 8.80e-07 | 121 |
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 |
UBC | SNV | Missense_Mutation | novel | c.1255G>T | p.Asp419Tyr | p.D419Y | P0CG48 | protein_coding | deleterious(0.03) | probably_damaging(0.944) | TCGA-A2-A0SU-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
UBC | SNV | Missense_Mutation | | c.1082N>G | p.Ser361Cys | p.S361C | P0CG48 | protein_coding | deleterious(0) | possibly_damaging(0.789) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
UBC | SNV | Missense_Mutation | novel | c.1133N>C | p.Arg378Thr | p.R378T | P0CG48 | protein_coding | deleterious(0.02) | possibly_damaging(0.511) | TCGA-AC-A5XS-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | femara | SD |
UBC | SNV | Missense_Mutation | | c.1849A>C | p.Thr617Pro | p.T617P | P0CG48 | protein_coding | deleterious(0.03) | probably_damaging(0.933) | TCGA-AN-A03Y-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
UBC | SNV | Missense_Mutation | | c.368N>C | p.Gly123Ala | p.G123A | P0CG48 | protein_coding | deleterious(0) | probably_damaging(0.959) | TCGA-B6-A0WZ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
UBC | SNV | Missense_Mutation | | c.1922N>C | p.Lys641Thr | p.K641T | P0CG48 | protein_coding | deleterious(0) | possibly_damaging(0.735) | TCGA-BH-A18H-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | CR |
UBC | SNV | Missense_Mutation | | c.1361N>C | p.Arg454Thr | p.R454T | P0CG48 | protein_coding | tolerated(0.05) | possibly_damaging(0.889) | TCGA-BH-A18U-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
UBC | SNV | Missense_Mutation | | c.373N>G | p.Gln125Glu | p.Q125E | P0CG48 | protein_coding | tolerated(0.08) | benign(0.265) | TCGA-D8-A143-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
UBC | insertion | Frame_Shift_Ins | novel | c.1687_1688insC | p.Gln563ProfsTer9 | p.Q563Pfs*9 | P0CG48 | protein_coding | | | TCGA-AR-A24N-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
UBC | insertion | In_Frame_Ins | novel | c.1579_1580insGTCTAATTTTTTTTG | p.Leu527delinsArgLeuIlePhePheVal | p.L527delinsRLIFFV | P0CG48 | protein_coding | | | TCGA-B6-A0IA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |