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Gene: FAM212A |
Gene summary for FAM212A |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | FAM212A | Gene ID | 389119 |
| Gene name | inka box actin regulator 1 | |
| Gene Alias | C3orf54 | |
| Cytomap | 3p21.31 | |
| Gene Type | protein-coding | GO ID | GO:0008150 | UniProtAcc | Q96EL1 |
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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 |
| 389119 | FAM212A | C04 | Human | Oral cavity | OSCC | 8.49e-03 | 4.42e-01 | 0.2633 |
| 389119 | FAM212A | C21 | Human | Oral cavity | OSCC | 3.73e-09 | 3.71e-01 | 0.2678 |
| 389119 | FAM212A | C30 | Human | Oral cavity | OSCC | 4.80e-09 | 7.59e-01 | 0.3055 |
| 389119 | FAM212A | C38 | Human | Oral cavity | OSCC | 2.22e-02 | 7.66e-01 | 0.172 |
| 389119 | FAM212A | C43 | Human | Oral cavity | OSCC | 2.14e-07 | 1.61e-01 | 0.1704 |
| 389119 | FAM212A | C46 | Human | Oral cavity | OSCC | 3.05e-08 | 3.59e-01 | 0.1673 |
| 389119 | FAM212A | C06 | Human | Oral cavity | OSCC | 9.36e-03 | 7.01e-01 | 0.2699 |
| 389119 | FAM212A | C08 | Human | Oral cavity | OSCC | 1.25e-08 | 1.23e-01 | 0.1919 |
| 389119 | FAM212A | LN46 | Human | Oral cavity | OSCC | 5.62e-03 | 2.16e-01 | 0.1666 |
| 389119 | FAM212A | SYSMH1 | Human | Oral cavity | OSCC | 1.94e-02 | 9.30e-02 | 0.1127 |
| 389119 | FAM212A | SYSMH2 | Human | Oral cavity | OSCC | 3.06e-05 | 2.13e-01 | 0.2326 |
| 389119 | FAM212A | SYSMH3 | Human | Oral cavity | OSCC | 2.21e-20 | 5.15e-01 | 0.2442 |
| 389119 | FAM212A | SYSMH4 | Human | Oral cavity | OSCC | 2.81e-06 | 1.52e-01 | 0.1226 |
| 389119 | FAM212A | P1_cSCC | Human | Skin | cSCC | 5.67e-32 | 8.84e-01 | 0.0292 |
| 389119 | FAM212A | P2_cSCC | Human | Skin | cSCC | 4.45e-26 | 6.00e-01 | -0.024 |
| 389119 | FAM212A | P4_cSCC | Human | Skin | cSCC | 1.83e-35 | 7.23e-01 | -0.00290000000000005 |
| 389119 | FAM212A | P10_cSCC | Human | Skin | cSCC | 6.80e-38 | 9.38e-01 | 0.1017 |
| 389119 | FAM212A | cSCC_p1 | Human | Skin | cSCC | 5.98e-08 | 3.11e-01 | -0.1916 |
| 389119 | FAM212A | cSCC_p10 | Human | Skin | cSCC | 1.04e-09 | 3.48e-01 | -0.2095 |
| 389119 | FAM212A | cSCC_p11 | Human | Skin | cSCC | 4.63e-13 | 2.79e-01 | -0.2102 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| 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 |
| 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 |
| FAM212A | SNV | Missense_Mutation | novel | c.752C>T | p.Ser251Leu | p.S251L | Q96EL1 | protein_coding | deleterious(0.01) | probably_damaging(0.998) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
| FAM212A | insertion | In_Frame_Ins | novel | c.365_366insTAACACCCT | p.Gln122delinsHisAsnThrLeu | p.Q122delinsHNTL | Q96EL1 | protein_coding | TCGA-AN-A0FS-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
| FAM212A | SNV | Missense_Mutation | novel | c.287N>G | p.Ser96Cys | p.S96C | Q96EL1 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-C5-A2LZ-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Unknown | Unknown | PD |
| FAM212A | SNV | Missense_Mutation | novel | c.19N>G | p.Arg7Gly | p.R7G | Q96EL1 | protein_coding | deleterious_low_confidence(0.01) | probably_damaging(0.95) | TCGA-HM-A4S6-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | cisplatin | CR |
| FAM212A | SNV | Missense_Mutation | c.548N>A | p.Arg183His | p.R183H | Q96EL1 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AA-3509-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| FAM212A | SNV | Missense_Mutation | rs749289018 | c.785C>T | p.Ala262Val | p.A262V | Q96EL1 | protein_coding | deleterious(0.01) | benign(0.003) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR |
| FAM212A | SNV | Missense_Mutation | rs377010190 | c.542N>A | p.Arg181His | p.R181H | Q96EL1 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-F4-6703-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
| FAM212A | SNV | Missense_Mutation | c.239N>T | p.Arg80Met | p.R80M | Q96EL1 | protein_coding | deleterious(0.01) | benign(0.421) | TCGA-A5-A0GA-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Chemotherapy | taxol | PD | |
| FAM212A | SNV | Missense_Mutation | rs758757867 | c.592N>T | p.His198Tyr | p.H198Y | Q96EL1 | protein_coding | deleterious(0.03) | benign(0.346) | TCGA-D1-A15X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| FAM212A | SNV | Missense_Mutation | c.148N>T | p.Leu50Phe | p.L50F | Q96EL1 | protein_coding | tolerated(0.15) | benign(0.063) | TCGA-D1-A17Q-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 |
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