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Gene: SAP130 |
Gene summary for SAP130 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | SAP130 | Gene ID | 79595 |
| Gene name | Sin3A associated protein 130 | |
| Gene Alias | SAP130 | |
| Cytomap | 2q14.3 | |
| Gene Type | protein-coding | GO ID | GO:0000122 | UniProtAcc | Q9H0E3 |
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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 |
| 79595 | SAP130 | HCC1_Meng | Human | Liver | HCC | 3.94e-17 | -5.59e-04 | 0.0246 |
| 79595 | SAP130 | HCC1 | Human | Liver | HCC | 1.70e-03 | 2.99e+00 | 0.5336 |
| 79595 | SAP130 | HCC2 | Human | Liver | HCC | 1.18e-07 | 3.08e+00 | 0.5341 |
| 79595 | SAP130 | S014 | Human | Liver | HCC | 2.96e-07 | 2.64e-01 | 0.2254 |
| 79595 | SAP130 | S015 | Human | Liver | HCC | 8.77e-05 | 2.91e-01 | 0.2375 |
| 79595 | SAP130 | S016 | Human | Liver | HCC | 5.36e-08 | 2.75e-01 | 0.2243 |
| 79595 | SAP130 | S027 | Human | Liver | HCC | 1.68e-03 | 3.71e-01 | 0.2446 |
| 79595 | SAP130 | S028 | Human | Liver | HCC | 1.18e-09 | 4.05e-01 | 0.2503 |
| 79595 | SAP130 | S029 | Human | Liver | HCC | 1.51e-03 | 2.65e-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 |
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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. |
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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 |
| SAP130 | SNV | Missense_Mutation | c.1517N>T | p.Pro506Leu | p.P506L | Q9H0E3 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.999) | TCGA-3L-AA1B-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| SAP130 | SNV | Missense_Mutation | c.455G>A | p.Arg152His | p.R152H | Q9H0E3 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.996) | TCGA-AA-3530-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
| SAP130 | SNV | Missense_Mutation | c.2000N>T | p.Arg667Leu | p.R667L | Q9H0E3 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.998) | TCGA-AA-3715-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD | |
| SAP130 | SNV | Missense_Mutation | c.2837N>G | p.Tyr946Cys | p.Y946C | Q9H0E3 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.998) | TCGA-AA-3966-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| SAP130 | SNV | Missense_Mutation | c.1774C>A | p.His592Asn | p.H592N | Q9H0E3 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.991) | TCGA-AA-3977-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
| SAP130 | SNV | Missense_Mutation | c.615G>T | p.Met205Ile | p.M205I | Q9H0E3 | protein_coding | deleterious_low_confidence(0.03) | benign(0.216) | TCGA-AA-3977-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
| SAP130 | SNV | Missense_Mutation | c.2929N>T | p.Arg977Cys | p.R977C | Q9H0E3 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.997) | TCGA-AD-6889-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Chemotherapy | xeloda | PD | |
| SAP130 | SNV | Missense_Mutation | novel | c.2879N>G | p.Glu960Gly | p.E960G | Q9H0E3 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.797) | TCGA-AD-6890-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
| SAP130 | SNV | Missense_Mutation | c.2047N>T | p.Arg683Trp | p.R683W | Q9H0E3 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.997) | TCGA-CA-6717-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | CR | |
| SAP130 | SNV | Missense_Mutation | c.2815N>T | p.Arg939Trp | p.R939W | Q9H0E3 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.997) | TCGA-CA-6718-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | PD |
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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 |
| 79595 | SAP130 | NA | SPLICEOSTATIN-A | CHEMBL1221944 | 17643111 |
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