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Gene: FBXO48 |
Gene summary for FBXO48 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | FBXO48 | Gene ID | 554251 |
| Gene name | F-box protein 48 | |
| Gene Alias | FBXO48 | |
| Cytomap | 2p13.3 | |
| Gene Type | protein-coding | GO ID | GO:0006508 | UniProtAcc | Q5FWF7 |
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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 |
| 554251 | FBXO48 | HCC1_Meng | Human | Liver | HCC | 5.39e-10 | -1.06e-02 | 0.0246 |
| 554251 | FBXO48 | HCC2_Meng | Human | Liver | HCC | 3.48e-02 | 1.03e-02 | 0.0107 |
| 554251 | FBXO48 | HCC1 | Human | Liver | HCC | 3.17e-04 | 8.90e-01 | 0.5336 |
| 554251 | FBXO48 | HCC2 | Human | Liver | HCC | 1.26e-07 | 1.59e+00 | 0.5341 |
| 554251 | FBXO48 | HCC5 | Human | Liver | HCC | 6.61e-03 | 9.36e-01 | 0.4932 |
| Page: 1 |
| 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). |
| Page: 1 2 3 4 5 6 7 8 9 |
| Enriched GO biological processes. |
| GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
| GO:001049822 | Liver | HCC | proteasomal protein catabolic process | 351/7958 | 490/18723 | 6.92e-40 | 1.46e-36 | 351 |
| GO:004316122 | Liver | HCC | proteasome-mediated ubiquitin-dependent protein catabolic process | 299/7958 | 412/18723 | 7.82e-36 | 8.27e-33 | 299 |
| GO:0031146 | Liver | HCC | SCF-dependent proteasomal ubiquitin-dependent protein catabolic process | 30/7958 | 49/18723 | 6.31e-03 | 2.57e-02 | 30 |
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| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| Page: 1 |
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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 |
| Page: 1 |
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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 |
| FBXO48 | SNV | Missense_Mutation | novel | c.362G>A | p.Gly121Asp | p.G121D | Q5FWF7 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| FBXO48 | SNV | Missense_Mutation | c.324N>A | p.Asn108Lys | p.N108K | Q5FWF7 | protein_coding | deleterious(0) | possibly_damaging(0.895) | TCGA-A6-2686-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| FBXO48 | SNV | Missense_Mutation | c.104T>G | p.Phe35Cys | p.F35C | Q5FWF7 | protein_coding | deleterious(0.01) | benign(0.251) | TCGA-AA-3510-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
| FBXO48 | SNV | Missense_Mutation | novel | c.243N>T | p.Met81Ile | p.M81I | Q5FWF7 | protein_coding | deleterious(0.05) | benign(0.006) | TCGA-AA-A02R-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
| FBXO48 | SNV | Missense_Mutation | c.47N>G | p.Thr16Arg | p.T16R | Q5FWF7 | protein_coding | tolerated(0.52) | benign(0.01) | TCGA-G4-6628-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
| FBXO48 | SNV | Missense_Mutation | rs150942426 | c.157N>T | p.Arg53Trp | p.R53W | Q5FWF7 | protein_coding | deleterious(0) | benign(0.003) | TCGA-AG-A002-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
| FBXO48 | SNV | Missense_Mutation | novel | c.434N>T | p.Trp145Leu | p.W145L | Q5FWF7 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-AP-A051-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| FBXO48 | SNV | Missense_Mutation | novel | c.374N>G | p.Asn125Ser | p.N125S | Q5FWF7 | protein_coding | deleterious(0.01) | probably_damaging(0.994) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| FBXO48 | SNV | Missense_Mutation | novel | c.17N>C | p.Lys6Thr | p.K6T | Q5FWF7 | protein_coding | tolerated(0.06) | benign(0.343) | TCGA-AX-A1CE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | SD |
| FBXO48 | SNV | Missense_Mutation | novel | c.163C>A | p.Leu55Met | p.L55M | Q5FWF7 | protein_coding | deleterious(0.02) | probably_damaging(0.997) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | 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 |
| Page: 1 |
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