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/PNPLA8_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/PNPLA8_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/PNPLA8_pca_on_diff_genes.png) | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
Oral Cavity | ![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/OralCavity/PNPLA8_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Prostate | ![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/Prostate/PNPLA8_pca_on_diff_genes.png) | BPH: Benign Prostatic Hyperplasia |
Skin | ![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/Skin/PNPLA8_pca_on_diff_genes.png) | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
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/PNPLA8_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:001087621 | Liver | HCC | lipid localization | 228/7958 | 448/18723 | 1.80e-04 | 1.41e-03 | 228 |
GO:000686921 | Liver | HCC | lipid transport | 198/7958 | 398/18723 | 1.92e-03 | 9.78e-03 | 198 |
GO:00550902 | Liver | HCC | acylglycerol homeostasis | 27/7958 | 42/18723 | 3.60e-03 | 1.60e-02 | 27 |
GO:00703282 | Liver | HCC | triglyceride homeostasis | 27/7958 | 42/18723 | 3.60e-03 | 1.60e-02 | 27 |
GO:190288212 | Liver | HCC | regulation of response to oxidative stress | 55/7958 | 98/18723 | 4.46e-03 | 1.93e-02 | 55 |
GO:190040712 | Liver | HCC | regulation of cellular response to oxidative stress | 50/7958 | 89/18723 | 6.33e-03 | 2.58e-02 | 50 |
GO:000167621 | Liver | HCC | long-chain fatty acid metabolic process | 60/7958 | 112/18723 | 1.17e-02 | 4.28e-02 | 60 |
GO:00069798 | Lung | IAC | response to oxidative stress | 82/2061 | 446/18723 | 1.99e-06 | 9.18e-05 | 82 |
GO:00621978 | Lung | IAC | cellular response to chemical stress | 64/2061 | 337/18723 | 8.92e-06 | 3.01e-04 | 64 |
GO:00345998 | Lung | IAC | cellular response to oxidative stress | 54/2061 | 288/18723 | 6.20e-05 | 1.35e-03 | 54 |
GO:19028828 | Lung | IAC | regulation of response to oxidative stress | 24/2061 | 98/18723 | 1.22e-04 | 2.30e-03 | 24 |
GO:19004078 | Lung | IAC | regulation of cellular response to oxidative stress | 22/2061 | 89/18723 | 1.99e-04 | 3.51e-03 | 22 |
GO:000697913 | Lung | AIS | response to oxidative stress | 75/1849 | 446/18723 | 2.97e-06 | 1.60e-04 | 75 |
GO:006219713 | Lung | AIS | cellular response to chemical stress | 58/1849 | 337/18723 | 1.91e-05 | 6.62e-04 | 58 |
GO:003459913 | Lung | AIS | cellular response to oxidative stress | 49/1849 | 288/18723 | 1.10e-04 | 2.57e-03 | 49 |
GO:190288213 | Lung | AIS | regulation of response to oxidative stress | 22/1849 | 98/18723 | 1.84e-04 | 3.83e-03 | 22 |
GO:190040713 | Lung | AIS | regulation of cellular response to oxidative stress | 20/1849 | 89/18723 | 3.50e-04 | 6.28e-03 | 20 |
GO:00464701 | Lung | AIS | phosphatidylcholine metabolic process | 15/1849 | 74/18723 | 5.25e-03 | 4.49e-02 | 15 |
GO:000697920 | Oral cavity | OSCC | response to oxidative stress | 273/7305 | 446/18723 | 8.35e-22 | 1.65e-19 | 273 |
GO:006219720 | Oral cavity | OSCC | cellular response to chemical stress | 204/7305 | 337/18723 | 6.89e-16 | 5.19e-14 | 204 |
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 |