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Gene: FAM57A |
Gene summary for FAM57A |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | FAM57A | Gene ID | 79850 |
| Gene name | TLC domain containing 3A | |
| Gene Alias | CT120 | |
| Cytomap | 17p13.3 | |
| Gene Type | protein-coding | GO ID | GO:0008150 | UniProtAcc | Q8TBR7 |
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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 |
| 79850 | FAM57A | P2T-E | Human | Esophagus | ESCC | 3.20e-18 | 1.75e-01 | 0.1177 |
| 79850 | FAM57A | P4T-E | Human | Esophagus | ESCC | 4.67e-23 | 7.39e-01 | 0.1323 |
| 79850 | FAM57A | P5T-E | Human | Esophagus | ESCC | 2.65e-20 | 3.23e-01 | 0.1327 |
| 79850 | FAM57A | P8T-E | Human | Esophagus | ESCC | 6.87e-18 | -4.69e-02 | 0.0889 |
| 79850 | FAM57A | P9T-E | Human | Esophagus | ESCC | 2.93e-14 | 1.56e-01 | 0.1131 |
| 79850 | FAM57A | P10T-E | Human | Esophagus | ESCC | 3.59e-07 | 9.09e-02 | 0.116 |
| 79850 | FAM57A | P11T-E | Human | Esophagus | ESCC | 1.99e-07 | 2.02e-01 | 0.1426 |
| 79850 | FAM57A | P12T-E | Human | Esophagus | ESCC | 4.00e-19 | 1.50e-01 | 0.1122 |
| 79850 | FAM57A | P15T-E | Human | Esophagus | ESCC | 1.61e-06 | 3.62e-02 | 0.1149 |
| 79850 | FAM57A | P16T-E | Human | Esophagus | ESCC | 2.69e-22 | 4.75e-02 | 0.1153 |
| 79850 | FAM57A | P20T-E | Human | Esophagus | ESCC | 6.60e-11 | 3.03e-01 | 0.1124 |
| 79850 | FAM57A | P21T-E | Human | Esophagus | ESCC | 3.75e-19 | 4.28e-01 | 0.1617 |
| 79850 | FAM57A | P22T-E | Human | Esophagus | ESCC | 9.57e-21 | 2.68e-01 | 0.1236 |
| 79850 | FAM57A | P23T-E | Human | Esophagus | ESCC | 2.96e-11 | 4.78e-01 | 0.108 |
| 79850 | FAM57A | P24T-E | Human | Esophagus | ESCC | 6.48e-06 | 1.38e-01 | 0.1287 |
| 79850 | FAM57A | P26T-E | Human | Esophagus | ESCC | 1.28e-15 | 2.37e-01 | 0.1276 |
| 79850 | FAM57A | P27T-E | Human | Esophagus | ESCC | 1.92e-15 | 2.00e-01 | 0.1055 |
| 79850 | FAM57A | P28T-E | Human | Esophagus | ESCC | 1.69e-19 | 4.14e-01 | 0.1149 |
| 79850 | FAM57A | P30T-E | Human | Esophagus | ESCC | 1.04e-09 | 3.70e-01 | 0.137 |
| 79850 | FAM57A | P31T-E | Human | Esophagus | ESCC | 5.64e-26 | 4.88e-01 | 0.1251 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| 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 |
| ∗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 |
| FAM57A | SNV | Missense_Mutation | rs755443158 | c.574N>T | p.Arg192Trp | p.R192W | Q8TBR7 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-A8-A09D-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | CR |
| FAM57A | SNV | Missense_Mutation | c.546N>G | p.Ile182Met | p.I182M | Q8TBR7 | protein_coding | deleterious(0.04) | possibly_damaging(0.5) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
| FAM57A | SNV | Missense_Mutation | c.583N>T | p.Leu195Phe | p.L195F | Q8TBR7 | protein_coding | deleterious(0) | benign(0.105) | TCGA-BH-A1EN-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| FAM57A | SNV | Missense_Mutation | c.369T>A | p.His123Gln | p.H123Q | Q8TBR7 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AX-A063-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| FAM57A | SNV | Missense_Mutation | c.374N>T | p.Ala125Val | p.A125V | Q8TBR7 | protein_coding | tolerated(1) | benign(0.003) | TCGA-BS-A0TE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | PD | |
| FAM57A | SNV | Missense_Mutation | c.469N>G | p.Thr157Ala | p.T157A | Q8TBR7 | protein_coding | deleterious(0) | probably_damaging(0.946) | TCGA-D1-A17F-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| FAM57A | SNV | Missense_Mutation | novel | c.328N>T | p.Leu110Phe | p.L110F | Q8TBR7 | protein_coding | tolerated(0.43) | benign(0.001) | TCGA-DF-A2KN-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
| FAM57A | SNV | Missense_Mutation | novel | c.520N>G | p.Thr174Ala | p.T174A | Q8TBR7 | protein_coding | deleterious(0.01) | possibly_damaging(0.61) | TCGA-DI-A1BU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
| FAM57A | SNV | Missense_Mutation | novel | c.227N>G | p.Tyr76Cys | p.Y76C | Q8TBR7 | protein_coding | deleterious(0) | probably_damaging(0.993) | TCGA-E6-A2P8-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
| FAM57A | SNV | Missense_Mutation | novel | c.289T>A | p.Cys97Ser | p.C97S | Q8TBR7 | protein_coding | deleterious(0.02) | benign(0.045) | TCGA-95-7567-01 | Lung | lung adenocarcinoma | Male | <65 | I/II | Chemotherapy | cisplatin | 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 |
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