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/ABHD12_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/ABHD12_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
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/ABHD12_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
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/ABHD12_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:00356015 | Esophagus | ESCC | protein deacylation | 79/8552 | 112/18723 | 8.30e-08 | 1.42e-06 | 79 |
GO:00987325 | Esophagus | ESCC | macromolecule deacylation | 80/8552 | 116/18723 | 3.19e-07 | 4.50e-06 | 80 |
GO:00066446 | Esophagus | ESCC | phospholipid metabolic process | 218/8552 | 383/18723 | 5.37e-06 | 5.59e-05 | 218 |
GO:00421573 | Esophagus | ESCC | lipoprotein metabolic process | 86/8552 | 135/18723 | 1.78e-05 | 1.57e-04 | 86 |
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:00065757 | Esophagus | ESCC | cellular modified amino acid metabolic process | 112/8552 | 188/18723 | 8.31e-05 | 6.06e-04 | 112 |
GO:000961216 | Esophagus | ESCC | response to mechanical stimulus | 124/8552 | 216/18723 | 3.30e-04 | 1.94e-03 | 124 |
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:00020842 | Esophagus | ESCC | protein depalmitoylation | 9/8552 | 10/18723 | 5.09e-03 | 1.92e-02 | 9 |
GO:00421593 | Esophagus | ESCC | lipoprotein catabolic process | 12/8552 | 15/18723 | 7.31e-03 | 2.63e-02 | 12 |
GO:00160427 | Esophagus | ESCC | lipid catabolic process | 168/8552 | 320/18723 | 7.97e-03 | 2.84e-02 | 168 |
GO:00066316 | Liver | NAFLD | fatty acid metabolic process | 92/1882 | 390/18723 | 3.38e-15 | 3.29e-12 | 92 |
GO:00442425 | Liver | NAFLD | cellular lipid catabolic process | 52/1882 | 214/18723 | 1.15e-09 | 2.17e-07 | 52 |
GO:00160426 | Liver | NAFLD | lipid catabolic process | 63/1882 | 320/18723 | 1.35e-07 | 1.02e-05 | 63 |
GO:00066392 | Liver | NAFLD | acylglycerol metabolic process | 32/1882 | 128/18723 | 8.82e-07 | 4.60e-05 | 32 |
GO:00066382 | Liver | NAFLD | neutral lipid metabolic process | 32/1882 | 129/18723 | 1.06e-06 | 5.35e-05 | 32 |
GO:00464863 | Liver | NAFLD | glycerolipid metabolic process | 66/1882 | 392/18723 | 1.94e-05 | 5.52e-04 | 66 |
GO:00464612 | Liver | NAFLD | neutral lipid catabolic process | 12/1882 | 39/18723 | 3.02e-04 | 4.75e-03 | 12 |
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 |
ABHD12 | SNV | Missense_Mutation | novel | c.353N>G | p.Gln118Arg | p.Q118R | Q8N2K0 | protein_coding | tolerated(0.2) | benign(0.229) | TCGA-AC-A23G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cytoxan | CR |
ABHD12 | insertion | In_Frame_Ins | novel | c.1158_1159insTTCCTTGTCAGCCCAAGGGAGGGC | p.Arg386_Pro387insPheLeuValSerProArgGluGly | p.R386_P387insFLVSPREG | Q8N2K0 | protein_coding | | | TCGA-A8-A06P-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unspecific | | SD |
ABHD12 | insertion | Frame_Shift_Ins | novel | c.1084_1085insCTGCTCAGGGGGCCTC | p.Val362AlafsTer24 | p.V362Afs*24 | Q8N2K0 | protein_coding | | | TCGA-AR-A0TY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | PD |
ABHD12 | SNV | Missense_Mutation | novel | c.1039N>G | p.Ile347Val | p.I347V | Q8N2K0 | protein_coding | tolerated(0.06) | benign(0.023) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
ABHD12 | SNV | Missense_Mutation | rs535070738 | c.430N>A | p.Val144Ile | p.V144I | Q8N2K0 | protein_coding | deleterious(0.03) | benign(0.104) | TCGA-AA-3815-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ABHD12 | SNV | Missense_Mutation | | c.349C>A | p.Pro117Thr | p.P117T | Q8N2K0 | protein_coding | deleterious(0) | possibly_damaging(0.67) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR |
ABHD12 | SNV | Missense_Mutation | | c.293C>G | p.Ala98Gly | p.A98G | Q8N2K0 | protein_coding | tolerated(0.12) | possibly_damaging(0.52) | TCGA-NH-A5IV-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ABHD12 | SNV | Missense_Mutation | | c.905N>C | p.Leu302Pro | p.L302P | Q8N2K0 | protein_coding | deleterious(0) | probably_damaging(0.989) | TCGA-RU-A8FL-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Chemotherapy | folfox | PD |
ABHD12 | SNV | Missense_Mutation | novel | c.1183N>T | p.Pro395Ser | p.P395S | Q8N2K0 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.932) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
ABHD12 | SNV | Missense_Mutation | rs771187489 | c.875N>A | p.Arg292Gln | p.R292Q | Q8N2K0 | protein_coding | tolerated(0.1) | probably_damaging(0.975) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |