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Gene: FAM49B |
Gene summary for FAM49B |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | FAM49B | Gene ID | 51571 |
| Gene name | CYFIP related Rac1 interactor B | |
| Gene Alias | BM-009 | |
| Cytomap | 8q24.21 | |
| Gene Type | protein-coding | GO ID | GO:0000266 | UniProtAcc | A0A024R9G4 |
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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 |
| 51571 | FAM49B | GSM4909281 | Human | Breast | IDC | 2.43e-41 | 8.21e-01 | 0.21 |
| 51571 | FAM49B | GSM4909282 | Human | Breast | IDC | 4.25e-04 | 2.63e-01 | -0.0288 |
| 51571 | FAM49B | GSM4909285 | Human | Breast | IDC | 1.50e-12 | 3.67e-01 | 0.21 |
| 51571 | FAM49B | GSM4909286 | Human | Breast | IDC | 3.05e-06 | 2.69e-01 | 0.1081 |
| 51571 | FAM49B | GSM4909287 | Human | Breast | IDC | 5.53e-06 | 3.03e-01 | 0.2057 |
| 51571 | FAM49B | GSM4909290 | Human | Breast | IDC | 1.91e-06 | 3.27e-01 | 0.2096 |
| 51571 | FAM49B | GSM4909295 | Human | Breast | IDC | 2.54e-15 | 5.79e-01 | 0.0898 |
| 51571 | FAM49B | GSM4909296 | Human | Breast | IDC | 5.24e-05 | -1.17e-01 | 0.1524 |
| 51571 | FAM49B | GSM4909308 | Human | Breast | IDC | 1.67e-16 | 4.08e-01 | 0.158 |
| 51571 | FAM49B | GSM4909311 | Human | Breast | IDC | 2.91e-13 | -1.78e-02 | 0.1534 |
| 51571 | FAM49B | GSM4909312 | Human | Breast | IDC | 3.58e-04 | 1.76e-01 | 0.1552 |
| 51571 | FAM49B | GSM4909317 | Human | Breast | IDC | 1.50e-10 | 3.81e-01 | 0.1355 |
| 51571 | FAM49B | GSM4909318 | Human | Breast | IDC | 6.03e-05 | 5.49e-01 | 0.2031 |
| 51571 | FAM49B | GSM4909319 | Human | Breast | IDC | 6.22e-16 | -1.14e-01 | 0.1563 |
| 51571 | FAM49B | GSM4909321 | Human | Breast | IDC | 1.19e-11 | 2.49e-01 | 0.1559 |
| 51571 | FAM49B | M1 | Human | Breast | IDC | 3.14e-03 | 2.36e-01 | 0.1577 |
| 51571 | FAM49B | M2 | Human | Breast | IDC | 3.50e-06 | 4.75e-01 | 0.21 |
| 51571 | FAM49B | NCCBC3 | Human | Breast | DCIS | 4.75e-06 | 2.85e-01 | 0.1198 |
| 51571 | FAM49B | NCCBC5 | Human | Breast | DCIS | 5.48e-03 | 1.79e-01 | 0.2046 |
| 51571 | FAM49B | P1 | Human | Breast | IDC | 1.14e-04 | 4.29e-02 | 0.1527 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Breast |  | IDC: Invasive ductal carcinoma |
| DCIS: Ductal carcinoma in situ | ||
| Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers | ||
| Cervix |  | CC: Cervix cancer |
| HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions | ||
| N_HPV: HPV-infected normal cervix | ||
| Colorectum (GSE201348) |  | FAP: Familial adenomatous polyposis |
| CRC: Colorectal cancer | ||
| Colorectum (HTA11) |  | AD: Adenomas |
| SER: Sessile serrated lesions | ||
| MSI-H: Microsatellite-high colorectal cancer | ||
| MSS: Microsatellite stable colorectal cancer | ||
| Endometrium |  | AEH: Atypical endometrial hyperplasia |
| EEC: Endometrioid Cancer | ||
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease | ||
| Lung |  | AAH: Atypical adenomatous hyperplasia |
| AIS: Adenocarcinoma in situ | ||
| IAC: Invasive lung adenocarcinoma | ||
| MIA: Minimally invasive adenocarcinoma | ||
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma | ||
| Skin |  | AK: Actinic keratosis |
| cSCC: Cutaneous squamous cell carcinoma | ||
| SCCIS:squamous cell carcinoma in situ | ||
| Thyroid |  | ATC: Anaplastic thyroid cancer |
| HT: Hashimoto's thyroiditis | ||
| PTC: Papillary thyroid cancer |
| ∗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 |
| Page: 1 |
| 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 |
| FAM49B | SNV | Missense_Mutation | c.429N>G | p.Asp143Glu | p.D143E | Q9NUQ9 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-A2-A0D0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD | |
| FAM49B | SNV | Missense_Mutation | rs779014064 | c.283N>A | p.Glu95Lys | p.E95K | Q9NUQ9 | protein_coding | tolerated(0.1) | benign(0.311) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| FAM49B | SNV | Missense_Mutation | c.4N>T | p.Gly2Trp | p.G2W | Q9NUQ9 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AO-A1KR-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD | |
| FAM49B | SNV | Missense_Mutation | c.11N>G | p.Leu4Arg | p.L4R | Q9NUQ9 | protein_coding | deleterious(0) | probably_damaging(0.992) | TCGA-B6-A0RI-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD | |
| FAM49B | SNV | Missense_Mutation | c.838N>A | p.Asp280Asn | p.D280N | Q9NUQ9 | protein_coding | tolerated(0.23) | benign(0.262) | TCGA-C8-A26Y-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| FAM49B | SNV | Missense_Mutation | novel | c.427N>A | p.Asp143Asn | p.D143N | Q9NUQ9 | protein_coding | deleterious(0.03) | probably_damaging(0.996) | TCGA-D8-A1XJ-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | tamoxiphen | SD |
| FAM49B | SNV | Missense_Mutation | novel | c.681N>A | p.Met227Ile | p.M227I | Q9NUQ9 | protein_coding | tolerated(0.09) | possibly_damaging(0.562) | TCGA-EW-A6SA-01 | Breast | breast invasive carcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
| FAM49B | SNV | Missense_Mutation | c.629N>T | p.Ser210Leu | p.S210L | Q9NUQ9 | protein_coding | deleterious(0.03) | benign(0.2) | TCGA-JW-A5VL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |
| FAM49B | SNV | Missense_Mutation | c.70N>A | p.Glu24Lys | p.E24K | Q9NUQ9 | protein_coding | deleterious(0) | benign(0.443) | TCGA-JW-A5VL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |
| FAM49B | SNV | Missense_Mutation | c.749N>C | p.Val250Ala | p.V250A | Q9NUQ9 | protein_coding | tolerated(0.41) | benign(0.411) | TCGA-AA-3811-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | PD |
| Page: 1 2 3 4 5 |
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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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