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Gene: ABHD6 |
Gene summary for ABHD6 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | ABHD6 | Gene ID | 57406 |
| Gene name | abhydrolase domain containing 6, acylglycerol lipase | |
| Gene Alias | ABHD6 | |
| Cytomap | 3p14.3 | |
| Gene Type | protein-coding | GO ID | GO:0001659 | UniProtAcc | A0A024R323 |
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Malignant transformation analysis |
| Identification of the aberrant gene expression in precancerous and cancerous lesions by comparing the gene expression of stem-like cells in diseased tissues with normal stem cells |
| Malignant transformation involving gene list. |
| Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
| 57406 | ABHD6 | NAFLD1 | Human | Liver | NAFLD | 1.05e-02 | 4.65e-01 | -0.04 |
| 57406 | ABHD6 | HCC1_Meng | Human | Liver | HCC | 6.75e-12 | -4.33e-02 | 0.0246 |
| 57406 | ABHD6 | HCC1 | Human | Liver | HCC | 4.10e-02 | 2.15e+00 | 0.5336 |
| 57406 | ABHD6 | S014 | Human | Liver | HCC | 2.03e-14 | 5.02e-01 | 0.2254 |
| 57406 | ABHD6 | S015 | Human | Liver | HCC | 1.36e-09 | 5.17e-01 | 0.2375 |
| 57406 | ABHD6 | S016 | Human | Liver | HCC | 8.11e-12 | 5.24e-01 | 0.2243 |
| 57406 | ABHD6 | S028 | Human | Liver | HCC | 3.20e-08 | 4.83e-01 | 0.2503 |
| 57406 | ABHD6 | S029 | Human | Liver | HCC | 8.07e-09 | 4.50e-01 | 0.2581 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease |
| ∗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. |
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Malignant transformation related pathway analysis |
| Find out the enriched GO biological processes and KEGG pathways involved in transition from healthy to precancer to cancer |
| Figure of enriched GO biological processes. |
| Tissue | Disease Stage | Enriched GO biological Processes |
| Colorectum | AD |  |
| Colorectum | SER |  |
| Colorectum | MSS |  |
| Colorectum | MSI-H |  |
| Colorectum | FAP |  |
| ∗Top 15 enriched GO BP terms are showed in the bar plot of each disease state in each tissue. Each row represents a significant GO biological process which is colored according to the -log10(p.adjust). |
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| Enriched GO biological processes. |
| GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
| 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:00192163 | Liver | NAFLD | regulation of lipid metabolic process | 61/1882 | 331/18723 | 2.18e-06 | 9.24e-05 | 61 |
| 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 |
| GO:00464642 | Liver | NAFLD | acylglycerol catabolic process | 12/1882 | 39/18723 | 3.02e-04 | 4.75e-03 | 12 |
| GO:00468903 | Liver | NAFLD | regulation of lipid biosynthetic process | 32/1882 | 171/18723 | 4.03e-04 | 5.99e-03 | 32 |
| GO:00335596 | Liver | NAFLD | unsaturated fatty acid metabolic process | 24/1882 | 116/18723 | 4.64e-04 | 6.74e-03 | 24 |
| GO:00016763 | Liver | NAFLD | long-chain fatty acid metabolic process | 23/1882 | 112/18723 | 6.73e-04 | 8.66e-03 | 23 |
| GO:01202545 | Liver | NAFLD | olefinic compound metabolic process | 28/1882 | 153/18723 | 1.28e-03 | 1.45e-02 | 28 |
| GO:0045834 | Liver | NAFLD | positive regulation of lipid metabolic process | 27/1882 | 149/18723 | 1.80e-03 | 1.85e-02 | 27 |
| GO:19908452 | Liver | NAFLD | adaptive thermogenesis | 28/1882 | 157/18723 | 1.91e-03 | 1.93e-02 | 28 |
| GO:0046434 | Liver | NAFLD | organophosphate catabolic process | 27/1882 | 155/18723 | 3.21e-03 | 2.86e-02 | 27 |
| GO:00016592 | Liver | NAFLD | temperature homeostasis | 29/1882 | 174/18723 | 4.48e-03 | 3.61e-02 | 29 |
| GO:00465032 | Liver | NAFLD | glycerolipid catabolic process | 14/1882 | 65/18723 | 4.57e-03 | 3.68e-02 | 14 |
| GO:01061063 | Liver | NAFLD | cold-induced thermogenesis | 25/1882 | 144/18723 | 4.66e-03 | 3.74e-02 | 25 |
| GO:01201613 | Liver | NAFLD | regulation of cold-induced thermogenesis | 25/1882 | 144/18723 | 4.66e-03 | 3.74e-02 | 25 |
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| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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Cell-cell communication analysis |
| Identification of potential cell-cell interactions between two cell types and their ligand-receptor pairs for different disease states |
| Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
| Find out the significant the regulons (TFs) and the target genes of each regulon across cell types for different disease states |
| TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
| ∗The dot plots of a searched regulon are shown for all cell subpopulations in each disease state of each tissue based on the regulon specific score inferred using pySCENIC and by calculating the average expression. |
| Page: 1 |
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Somatic mutation of malignant transformation related genes |
| Annotation of somatic variants for genes involved in malignant transformation |
| 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 |
| ABHD6 | SNV | Missense_Mutation | c.252G>C | p.Lys84Asn | p.K84N | Q9BV23 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-BH-A0AY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | SD | ||
| ABHD6 | SNV | Missense_Mutation | novel | c.577N>A | p.Gly193Ser | p.G193S | Q9BV23 | protein_coding | tolerated(0.6) | benign(0) | TCGA-BH-A0EA-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | taxotere | CR |
| ABHD6 | deletion | Frame_Shift_Del | c.609delN | p.Pro204ArgfsTer7 | p.P204Rfs*7 | Q9BV23 | protein_coding | TCGA-A2-A0T2-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | xeloda | PD | |||
| ABHD6 | SNV | Missense_Mutation | novel | c.229C>T | p.Leu77Phe | p.L77F | Q9BV23 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| ABHD6 | SNV | Missense_Mutation | novel | c.694N>G | p.Leu232Val | p.L232V | Q9BV23 | protein_coding | deleterious(0.02) | probably_damaging(0.926) | TCGA-UC-A7PG-06 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | cisplatin | PD |
| ABHD6 | SNV | Missense_Mutation | c.445N>C | p.Met149Leu | p.M149L | Q9BV23 | protein_coding | deleterious(0) | probably_damaging(0.93) | TCGA-AA-3492-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| ABHD6 | SNV | Missense_Mutation | novel | c.700N>A | p.Asp234Asn | p.D234N | Q9BV23 | protein_coding | tolerated(0.33) | benign(0.439) | TCGA-AA-3845-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
| ABHD6 | SNV | Missense_Mutation | c.419N>C | p.Lys140Thr | p.K140T | Q9BV23 | protein_coding | tolerated(0.1) | benign(0.11) | TCGA-AA-3977-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
| ABHD6 | SNV | Missense_Mutation | novel | c.85N>A | p.Leu29Met | p.L29M | Q9BV23 | protein_coding | tolerated(0.06) | benign(0.123) | TCGA-F5-6814-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
| ABHD6 | SNV | Missense_Mutation | novel | c.203N>A | p.Pro68His | p.P68H | Q9BV23 | protein_coding | deleterious(0) | probably_damaging(0.946) | TCGA-A5-A0G1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
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Related drugs of malignant transformation related genes |
| Identification of chemicals and drugs interact with genes involved in malignant transfromation |
| (DGIdb 4.0) |
| Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
| 57406 | ABHD6 | PHOSPHOLIPASE, ENZYME | Piperazine carbamic compound 2 | |||
| 57406 | ABHD6 | PHOSPHOLIPASE, ENZYME | Pyrazole derivative 80 | |||
| 57406 | ABHD6 | PHOSPHOLIPASE, ENZYME | inhibitor | 178101972 | ||
| 57406 | ABHD6 | PHOSPHOLIPASE, ENZYME | PMID29053063-Compound-11d | |||
| 57406 | ABHD6 | PHOSPHOLIPASE, ENZYME | inhibitor | 381744927 | ||
| 57406 | ABHD6 | PHOSPHOLIPASE, ENZYME | inhibitor | 329968420 | ||
| 57406 | ABHD6 | PHOSPHOLIPASE, ENZYME | Piperazine carbamic compound 4 | |||
| 57406 | ABHD6 | PHOSPHOLIPASE, ENZYME | Pyrazole derivative 82 | |||
| 57406 | ABHD6 | PHOSPHOLIPASE, ENZYME | PMID29053063-Compound-11c | |||
| 57406 | ABHD6 | PHOSPHOLIPASE, ENZYME | Pyrazole derivative 81 |
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