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Gene: FAM122A |
Gene summary for FAM122A |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | FAM122A | Gene ID | 116224 |
| Gene name | PP2A Aalpha (PPP2R1A) and B55A (PPP2R2A) interacting phosphatase regulator 1 | |
| Gene Alias | C9orf42 | |
| Cytomap | 9q21.11 | |
| Gene Type | protein-coding | GO ID | GO:0000075 | UniProtAcc | B3KX07 |
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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 |
| 116224 | FAM122A | P1T-E | Human | Esophagus | ESCC | 2.33e-02 | 1.99e-01 | 0.0875 |
| 116224 | FAM122A | P2T-E | Human | Esophagus | ESCC | 2.17e-28 | 5.34e-01 | 0.1177 |
| 116224 | FAM122A | P4T-E | Human | Esophagus | ESCC | 2.49e-09 | 1.88e-01 | 0.1323 |
| 116224 | FAM122A | P5T-E | Human | Esophagus | ESCC | 9.50e-06 | 7.96e-02 | 0.1327 |
| 116224 | FAM122A | P8T-E | Human | Esophagus | ESCC | 3.13e-07 | 1.04e-01 | 0.0889 |
| 116224 | FAM122A | P9T-E | Human | Esophagus | ESCC | 4.25e-07 | 1.99e-01 | 0.1131 |
| 116224 | FAM122A | P10T-E | Human | Esophagus | ESCC | 9.85e-27 | 2.17e-01 | 0.116 |
| 116224 | FAM122A | P12T-E | Human | Esophagus | ESCC | 2.49e-23 | 2.56e-01 | 0.1122 |
| 116224 | FAM122A | P15T-E | Human | Esophagus | ESCC | 4.33e-20 | 3.11e-01 | 0.1149 |
| 116224 | FAM122A | P16T-E | Human | Esophagus | ESCC | 7.58e-15 | 2.57e-01 | 0.1153 |
| 116224 | FAM122A | P17T-E | Human | Esophagus | ESCC | 2.14e-05 | 2.09e-01 | 0.1278 |
| 116224 | FAM122A | P20T-E | Human | Esophagus | ESCC | 1.88e-10 | 1.48e-01 | 0.1124 |
| 116224 | FAM122A | P21T-E | Human | Esophagus | ESCC | 6.82e-13 | 2.39e-01 | 0.1617 |
| 116224 | FAM122A | P22T-E | Human | Esophagus | ESCC | 7.85e-21 | 2.50e-01 | 0.1236 |
| 116224 | FAM122A | P23T-E | Human | Esophagus | ESCC | 1.73e-05 | 1.68e-01 | 0.108 |
| 116224 | FAM122A | P24T-E | Human | Esophagus | ESCC | 3.92e-19 | 2.25e-01 | 0.1287 |
| 116224 | FAM122A | P26T-E | Human | Esophagus | ESCC | 8.83e-26 | 4.89e-01 | 0.1276 |
| 116224 | FAM122A | P27T-E | Human | Esophagus | ESCC | 3.77e-05 | 8.34e-02 | 0.1055 |
| 116224 | FAM122A | P28T-E | Human | Esophagus | ESCC | 1.18e-20 | 3.70e-01 | 0.1149 |
| 116224 | FAM122A | P30T-E | Human | Esophagus | ESCC | 1.61e-17 | 6.20e-01 | 0.137 |
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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 |
| ∗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 |
| 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 |
| FAM122A | SNV | Missense_Mutation | c.737N>T | p.Arg246Ile | p.R246I | Q96E09 | protein_coding | deleterious(0) | probably_damaging(0.975) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| FAM122A | SNV | Missense_Mutation | novel | c.266C>T | p.Thr89Ile | p.T89I | Q96E09 | protein_coding | tolerated(0.41) | benign(0.221) | TCGA-PE-A5DE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR |
| FAM122A | SNV | Missense_Mutation | c.164C>A | p.Pro55His | p.P55H | Q96E09 | protein_coding | deleterious(0.02) | probably_damaging(0.979) | TCGA-VS-A8EB-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unknown | Unknown | PD | |
| FAM122A | SNV | Missense_Mutation | novel | c.896N>T | p.Ser299Leu | p.S299L | Q96E09 | protein_coding | deleterious(0) | probably_damaging(0.943) | TCGA-VS-A958-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| FAM122A | SNV | Missense_Mutation | novel | c.548N>T | p.Pro183Leu | p.P183L | Q96E09 | protein_coding | deleterious(0.03) | probably_damaging(0.991) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| FAM122A | SNV | Missense_Mutation | c.737G>T | p.Arg246Ile | p.R246I | Q96E09 | protein_coding | deleterious(0) | probably_damaging(0.975) | TCGA-AP-A056-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| FAM122A | SNV | Missense_Mutation | c.771N>T | p.Lys257Asn | p.K257N | Q96E09 | protein_coding | deleterious(0.01) | probably_damaging(0.978) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| FAM122A | SNV | Missense_Mutation | novel | c.513N>T | p.Glu171Asp | p.E171D | Q96E09 | protein_coding | tolerated(0.17) | benign(0.003) | TCGA-AP-A1E0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | SD |
| FAM122A | SNV | Missense_Mutation | c.737N>T | p.Arg246Ile | p.R246I | Q96E09 | protein_coding | deleterious(0) | probably_damaging(0.975) | TCGA-AP-A1E0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | SD | |
| FAM122A | SNV | Missense_Mutation | c.771N>T | p.Lys257Asn | p.K257N | Q96E09 | protein_coding | deleterious(0.01) | probably_damaging(0.978) | TCGA-AX-A0J0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | 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 |
| Page: 1 |
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