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Gene: EFCAB2 |
Gene summary for EFCAB2 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | EFCAB2 | Gene ID | 84288 |
| Gene name | EF-hand calcium binding domain 2 | |
| Gene Alias | CFAP200 | |
| Cytomap | 1q44 | |
| Gene Type | protein-coding | GO ID | GO:0005575 | UniProtAcc | Q5VUJ9 |
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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 |
| 84288 | EFCAB2 | NAFLD1 | Human | Liver | NAFLD | 6.84e-08 | 7.26e-01 | -0.04 |
| 84288 | EFCAB2 | S43 | Human | Liver | Cirrhotic | 4.01e-07 | -1.23e-01 | -0.0187 |
| 84288 | EFCAB2 | HCC1_Meng | Human | Liver | HCC | 5.35e-38 | -3.38e-02 | 0.0246 |
| 84288 | EFCAB2 | HCC2_Meng | Human | Liver | HCC | 1.09e-12 | -3.23e-02 | 0.0107 |
| 84288 | EFCAB2 | S014 | Human | Liver | HCC | 1.65e-11 | 5.34e-01 | 0.2254 |
| 84288 | EFCAB2 | S015 | Human | Liver | HCC | 7.40e-12 | 6.19e-01 | 0.2375 |
| 84288 | EFCAB2 | S016 | Human | Liver | HCC | 2.65e-10 | 4.67e-01 | 0.2243 |
| 84288 | EFCAB2 | S028 | Human | Liver | HCC | 2.33e-06 | 4.19e-01 | 0.2503 |
| 84288 | EFCAB2 | S029 | Human | Liver | HCC | 1.19e-05 | 4.39e-01 | 0.2581 |
| 84288 | EFCAB2 | C04 | Human | Oral cavity | OSCC | 3.41e-14 | 6.58e-01 | 0.2633 |
| 84288 | EFCAB2 | C21 | Human | Oral cavity | OSCC | 7.89e-23 | 6.76e-01 | 0.2678 |
| 84288 | EFCAB2 | C30 | Human | Oral cavity | OSCC | 1.67e-03 | 2.44e-01 | 0.3055 |
| 84288 | EFCAB2 | C43 | Human | Oral cavity | OSCC | 1.14e-02 | 1.38e-01 | 0.1704 |
| 84288 | EFCAB2 | C46 | Human | Oral cavity | OSCC | 2.76e-02 | 6.98e-02 | 0.1673 |
| 84288 | EFCAB2 | LN46 | Human | Oral cavity | OSCC | 6.74e-06 | 3.08e-01 | 0.1666 |
| 84288 | EFCAB2 | EOLP-1 | Human | Oral cavity | EOLP | 5.08e-03 | 2.37e-01 | -0.0202 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease | ||
| 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). |
| 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 |
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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 |
| EFCAB2 | SNV | Missense_Mutation | c.129C>G | p.Ile43Met | p.I43M | Q5VUJ9 | protein_coding | tolerated(0.06) | probably_damaging(0.916) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
| EFCAB2 | SNV | Missense_Mutation | rs557402578 | c.220G>A | p.Glu74Lys | p.E74K | Q5VUJ9 | protein_coding | deleterious(0.04) | possibly_damaging(0.729) | TCGA-AA-A00N-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
| EFCAB2 | SNV | Missense_Mutation | rs557402578 | c.220N>A | p.Glu74Lys | p.E74K | Q5VUJ9 | protein_coding | deleterious(0.04) | possibly_damaging(0.729) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
| EFCAB2 | SNV | Missense_Mutation | rs557402578 | c.220G>A | p.Glu74Lys | p.E74K | Q5VUJ9 | protein_coding | deleterious(0.04) | possibly_damaging(0.729) | TCGA-AP-A1E0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | SD |
| EFCAB2 | SNV | Missense_Mutation | novel | c.486N>G | p.Asn162Lys | p.N162K | Q5VUJ9 | protein_coding | deleterious_low_confidence(0.02) | benign(0.079) | TCGA-AX-A0J0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| EFCAB2 | SNV | Missense_Mutation | c.265N>C | p.Tyr89His | p.Y89H | Q5VUJ9 | protein_coding | deleterious(0) | probably_damaging(0.961) | TCGA-BG-A2AE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR | |
| EFCAB2 | SNV | Missense_Mutation | novel | c.407N>C | p.Met136Thr | p.M136T | Q5VUJ9 | protein_coding | deleterious(0) | probably_damaging(0.932) | TCGA-D1-A175-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
| EFCAB2 | deletion | Frame_Shift_Del | novel | c.49delN | p.Ile19SerfsTer18 | p.I19Sfs*18 | Q5VUJ9 | protein_coding | TCGA-E6-A1LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
| EFCAB2 | SNV | Missense_Mutation | novel | c.472N>C | p.Val158Leu | p.V158L | Q5VUJ9 | protein_coding | tolerated(0.35) | benign(0.01) | TCGA-CN-5367-01 | Oral cavity | head & neck squamous cell carcinoma | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
| EFCAB2 | SNV | Missense_Mutation | novel | c.307N>T | p.Val103Phe | p.V103F | Q5VUJ9 | protein_coding | deleterious(0) | possibly_damaging(0.856) | TCGA-BR-8678-01 | Stomach | stomach adenocarcinoma | Male | >=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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