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Gene: FAM193A |
Gene summary for FAM193A |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | FAM193A | Gene ID | 8603 |
| Gene name | family with sequence similarity 193 member A | |
| Gene Alias | C4orf8 | |
| Cytomap | 4p16.3 | |
| Gene Type | protein-coding | GO ID | NA | UniProtAcc | P78312 |
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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 |
| 8603 | FAM193A | AEH-subject1 | Human | Endometrium | AEH | 1.58e-04 | 2.59e-01 | -0.3059 |
| 8603 | FAM193A | AEH-subject3 | Human | Endometrium | AEH | 5.48e-04 | 2.66e-01 | -0.2576 |
| 8603 | FAM193A | AEH-subject4 | Human | Endometrium | AEH | 2.12e-05 | 3.18e-01 | -0.2657 |
| 8603 | FAM193A | AEH-subject5 | Human | Endometrium | AEH | 2.80e-04 | 2.94e-01 | -0.2953 |
| 8603 | FAM193A | EEC-subject1 | Human | Endometrium | EEC | 1.01e-03 | 3.02e-01 | -0.2682 |
| 8603 | FAM193A | EEC-subject2 | Human | Endometrium | EEC | 5.86e-04 | 2.56e-01 | -0.2607 |
| 8603 | FAM193A | EEC-subject4 | Human | Endometrium | EEC | 3.15e-04 | 2.03e-01 | -0.2571 |
| 8603 | FAM193A | GSM6177620_NYU_UCEC1_lib1_lib1 | Human | Endometrium | EEC | 5.58e-09 | 2.66e-02 | -0.1869 |
| 8603 | FAM193A | GSM6177620_NYU_UCEC1_lib2_lib2 | Human | Endometrium | EEC | 1.13e-10 | -7.95e-02 | -0.1875 |
| 8603 | FAM193A | GSM6177620_NYU_UCEC1_lib3_lib3 | Human | Endometrium | EEC | 1.15e-15 | 1.35e-01 | -0.1883 |
| 8603 | FAM193A | GSM6177621_NYU_UCEC2_lib1_lib1 | Human | Endometrium | EEC | 7.11e-07 | 7.33e-02 | -0.1934 |
| 8603 | FAM193A | GSM6177622_NYU_UCEC3_lib1_lib1 | Human | Endometrium | EEC | 1.56e-12 | -4.48e-02 | -0.1917 |
| 8603 | FAM193A | GSM6177622_NYU_UCEC3_lib2_lib2 | Human | Endometrium | EEC | 3.77e-12 | -6.02e-03 | -0.1916 |
| 8603 | FAM193A | LZE7T | Human | Esophagus | ESCC | 1.14e-04 | 2.42e-01 | 0.0667 |
| 8603 | FAM193A | LZE24T | Human | Esophagus | ESCC | 1.53e-03 | 1.46e-01 | 0.0596 |
| 8603 | FAM193A | P1T-E | Human | Esophagus | ESCC | 7.16e-06 | 1.98e-01 | 0.0875 |
| 8603 | FAM193A | P2T-E | Human | Esophagus | ESCC | 5.52e-13 | 2.65e-01 | 0.1177 |
| 8603 | FAM193A | P4T-E | Human | Esophagus | ESCC | 5.12e-05 | 1.19e-01 | 0.1323 |
| 8603 | FAM193A | P5T-E | Human | Esophagus | ESCC | 1.97e-05 | 5.57e-02 | 0.1327 |
| 8603 | FAM193A | P8T-E | Human | Esophagus | ESCC | 6.23e-15 | 1.53e-01 | 0.0889 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Endometrium |  | AEH: Atypical endometrial hyperplasia |
| EEC: Endometrioid Cancer | ||
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| Lung |  | AAH: Atypical adenomatous hyperplasia |
| AIS: Adenocarcinoma in situ | ||
| IAC: Invasive lung adenocarcinoma | ||
| MIA: Minimally invasive adenocarcinoma | ||
| 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 |
| FAM193A | SNV | Missense_Mutation | rs746576848 | c.422N>C | p.His141Pro | p.H141P | protein_coding | deleterious(0.05) | benign(0.007) | TCGA-5L-AAT0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD | |
| FAM193A | SNV | Missense_Mutation | c.3704N>C | p.Arg1235Thr | p.R1235T | P78312 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-A2-A0T4-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | femara | SD | |
| FAM193A | SNV | Missense_Mutation | novel | c.208N>T | p.His70Tyr | p.H70Y | P78312 | protein_coding | tolerated(0.05) | probably_damaging(0.997) | TCGA-A8-A09E-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | anastrozole | SD |
| FAM193A | SNV | Missense_Mutation | novel | c.2383G>A | p.Glu795Lys | p.E795K | P78312 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| FAM193A | SNV | Missense_Mutation | novel | c.2600N>A | p.Arg867His | p.R867H | P78312 | protein_coding | deleterious(0) | probably_damaging(0.973) | TCGA-AO-A12D-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
| FAM193A | SNV | Missense_Mutation | c.1566G>C | p.Trp522Cys | p.W522C | P78312 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AR-A250-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD | |
| FAM193A | SNV | Missense_Mutation | c.2162N>T | p.Pro721Leu | p.P721L | P78312 | protein_coding | tolerated(0.15) | benign(0.051) | TCGA-BH-A0GZ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | SD | |
| FAM193A | SNV | Missense_Mutation | rs145959580 | c.29C>T | p.Ser10Leu | p.S10L | P78312 | protein_coding | deleterious(0) | probably_damaging(0.992) | TCGA-BH-A1F8-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | PD |
| FAM193A | SNV | Missense_Mutation | c.3754N>C | p.Trp1252Arg | p.W1252R | P78312 | protein_coding | deleterious(0) | possibly_damaging(0.481) | TCGA-D8-A1XK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine+cyclophosphamide | SD | |
| FAM193A | SNV | Missense_Mutation | novel | c.3004N>A | p.Asp1002Asn | p.D1002N | P78312 | protein_coding | tolerated(0.31) | benign(0) | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 |
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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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