Tissue | Expression Dynamics | Abbreviation |
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:000697927 | Esophagus | HGIN | response to oxidative stress | 107/2587 | 446/18723 | 3.91e-09 | 2.76e-07 | 107 |
GO:006219727 | Esophagus | HGIN | cellular response to chemical stress | 76/2587 | 337/18723 | 8.00e-06 | 2.41e-04 | 76 |
GO:003459926 | Esophagus | HGIN | cellular response to oxidative stress | 65/2587 | 288/18723 | 3.42e-05 | 8.66e-04 | 65 |
GO:00066929 | Esophagus | HGIN | prostanoid metabolic process | 17/2587 | 49/18723 | 1.84e-04 | 3.48e-03 | 17 |
GO:00066939 | Esophagus | HGIN | prostaglandin metabolic process | 17/2587 | 49/18723 | 1.84e-04 | 3.48e-03 | 17 |
GO:0006979111 | Esophagus | ESCC | response to oxidative stress | 303/8552 | 446/18723 | 7.15e-22 | 1.30e-19 | 303 |
GO:0062197111 | Esophagus | ESCC | cellular response to chemical stress | 234/8552 | 337/18723 | 5.37e-19 | 5.97e-17 | 234 |
GO:0034599111 | Esophagus | ESCC | cellular response to oxidative stress | 197/8552 | 288/18723 | 3.76e-15 | 2.15e-13 | 197 |
GO:00066446 | Esophagus | ESCC | phospholipid metabolic process | 218/8552 | 383/18723 | 5.37e-06 | 5.59e-05 | 218 |
GO:00066318 | Esophagus | ESCC | fatty acid metabolic process | 217/8552 | 390/18723 | 4.21e-05 | 3.39e-04 | 217 |
GO:00066505 | Esophagus | ESCC | glycerophospholipid metabolic process | 174/8552 | 306/18723 | 4.92e-05 | 3.85e-04 | 174 |
GO:00463948 | Esophagus | ESCC | carboxylic acid biosynthetic process | 175/8552 | 314/18723 | 1.98e-04 | 1.26e-03 | 175 |
GO:00160538 | Esophagus | ESCC | organic acid biosynthetic process | 175/8552 | 316/18723 | 3.04e-04 | 1.82e-03 | 175 |
GO:00464864 | Esophagus | ESCC | glycerolipid metabolic process | 211/8552 | 392/18723 | 6.51e-04 | 3.46e-03 | 211 |
GO:00442427 | Esophagus | ESCC | cellular lipid catabolic process | 121/8552 | 214/18723 | 8.63e-04 | 4.43e-03 | 121 |
GO:000669211 | Esophagus | ESCC | prostanoid metabolic process | 33/8552 | 49/18723 | 1.80e-03 | 8.26e-03 | 33 |
GO:000669311 | Esophagus | ESCC | prostaglandin metabolic process | 33/8552 | 49/18723 | 1.80e-03 | 8.26e-03 | 33 |
GO:190288220 | Esophagus | ESCC | regulation of response to oxidative stress | 58/8552 | 98/18723 | 4.86e-03 | 1.88e-02 | 58 |
GO:00160427 | Esophagus | ESCC | lipid catabolic process | 168/8552 | 320/18723 | 7.97e-03 | 2.84e-02 | 168 |
GO:190040720 | Esophagus | ESCC | regulation of cellular response to oxidative stress | 52/8552 | 89/18723 | 1.04e-02 | 3.56e-02 | 52 |
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 |
PNPLA8 | SNV | Missense_Mutation | novel | c.1333C>A | p.Leu445Ile | p.L445I | Q9NP80 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PNPLA8 | SNV | Missense_Mutation | novel | c.1663A>G | p.Arg555Gly | p.R555G | Q9NP80 | protein_coding | deleterious(0.01) | benign(0.422) | TCGA-AR-A256-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | PD |
PNPLA8 | SNV | Missense_Mutation | | c.757N>G | p.Ile253Val | p.I253V | Q9NP80 | protein_coding | tolerated(0.75) | benign(0) | TCGA-EW-A1P6-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
PNPLA8 | insertion | Frame_Shift_Ins | novel | c.1980_1981insAATTTCATTTTGCAATGCCTTGTGGAGGTAGGAGGCGACAA | p.Gly661AsnfsTer21 | p.G661Nfs*21 | Q9NP80 | protein_coding | | | TCGA-A2-A04P-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | taxol | PD |
PNPLA8 | insertion | Frame_Shift_Ins | novel | c.596_597insCT | p.Lys199AsnfsTer44 | p.K199Nfs*44 | Q9NP80 | protein_coding | | | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
PNPLA8 | insertion | Frame_Shift_Ins | novel | c.595_596insG | p.Lys199ArgfsTer14 | p.K199Rfs*14 | Q9NP80 | protein_coding | | | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
PNPLA8 | insertion | Nonsense_Mutation | novel | c.445_446insCACAAGACTATTTGGACTAA | p.Asn149ThrfsTer7 | p.N149Tfs*7 | Q9NP80 | protein_coding | | | TCGA-AR-A0U0-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PNPLA8 | insertion | Nonsense_Mutation | novel | c.634_635insGAAAGAATGAATAAGACTTACTATTTGATGGCAAAATAGAGT | p.Asn212delinsArgLysAsnGluTerAspLeuLeuPheAspGlyLysIleGluTyr | p.N212delinsRKNE*DLLFDGKIEY | Q9NP80 | protein_coding | | | TCGA-AR-A251-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
PNPLA8 | SNV | Missense_Mutation | rs557023667 | c.1385G>A | p.Arg462Gln | p.R462Q | Q9NP80 | protein_coding | tolerated(0.12) | benign(0.164) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
PNPLA8 | SNV | Missense_Mutation | novel | c.1501G>A | p.Glu501Lys | p.E501K | Q9NP80 | protein_coding | deleterious(0) | possibly_damaging(0.744) | TCGA-MA-AA41-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |