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Gene: MCFD2 |
Gene summary for MCFD2 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | MCFD2 | Gene ID | 90411 |
| Gene name | multiple coagulation factor deficiency 2, ER cargo receptor complex subunit | |
| Gene Alias | F5F8D | |
| Cytomap | 2p21 | |
| Gene Type | protein-coding | GO ID | GO:0006810 | UniProtAcc | Q8NI22 |
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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 |
| 90411 | MCFD2 | LZE4T | Human | Esophagus | ESCC | 2.97e-09 | 3.51e-01 | 0.0811 |
| 90411 | MCFD2 | LZE7T | Human | Esophagus | ESCC | 3.16e-02 | 6.53e-03 | 0.0667 |
| 90411 | MCFD2 | LZE8T | Human | Esophagus | ESCC | 2.13e-06 | -1.49e-01 | 0.067 |
| 90411 | MCFD2 | LZE20T | Human | Esophagus | ESCC | 7.34e-06 | -1.21e-01 | 0.0662 |
| 90411 | MCFD2 | LZE22D1 | Human | Esophagus | HGIN | 1.67e-03 | -1.92e-01 | 0.0595 |
| 90411 | MCFD2 | LZE24T | Human | Esophagus | ESCC | 2.75e-07 | 1.58e-01 | 0.0596 |
| 90411 | MCFD2 | P1T-E | Human | Esophagus | ESCC | 3.85e-02 | 5.40e-01 | 0.0875 |
| 90411 | MCFD2 | P2T-E | Human | Esophagus | ESCC | 8.87e-43 | 7.69e-01 | 0.1177 |
| 90411 | MCFD2 | P4T-E | Human | Esophagus | ESCC | 7.52e-13 | 5.30e-01 | 0.1323 |
| 90411 | MCFD2 | P5T-E | Human | Esophagus | ESCC | 5.63e-17 | 7.93e-02 | 0.1327 |
| 90411 | MCFD2 | P8T-E | Human | Esophagus | ESCC | 1.64e-17 | 2.20e-01 | 0.0889 |
| 90411 | MCFD2 | P9T-E | Human | Esophagus | ESCC | 3.36e-16 | 2.29e-01 | 0.1131 |
| 90411 | MCFD2 | P10T-E | Human | Esophagus | ESCC | 1.38e-20 | 2.68e-01 | 0.116 |
| 90411 | MCFD2 | P11T-E | Human | Esophagus | ESCC | 1.46e-03 | 4.44e-01 | 0.1426 |
| 90411 | MCFD2 | P12T-E | Human | Esophagus | ESCC | 2.14e-18 | 3.35e-01 | 0.1122 |
| 90411 | MCFD2 | P15T-E | Human | Esophagus | ESCC | 2.94e-13 | 3.90e-01 | 0.1149 |
| 90411 | MCFD2 | P16T-E | Human | Esophagus | ESCC | 5.04e-20 | 3.38e-01 | 0.1153 |
| 90411 | MCFD2 | P17T-E | Human | Esophagus | ESCC | 1.07e-09 | 3.11e-01 | 0.1278 |
| 90411 | MCFD2 | P20T-E | Human | Esophagus | ESCC | 6.17e-14 | 8.57e-02 | 0.1124 |
| 90411 | MCFD2 | P21T-E | Human | Esophagus | ESCC | 2.46e-33 | 7.63e-01 | 0.1617 |
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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 | ||
| 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 | ||
| Prostate |  | BPH: Benign Prostatic Hyperplasia |
| Skin |  | AK: Actinic keratosis |
| cSCC: Cutaneous squamous cell carcinoma | ||
| SCCIS:squamous cell carcinoma in situ | ||
| 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). |
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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 |
| MCFD2 | SNV | Missense_Mutation | c.254A>G | p.Asn85Ser | p.N85S | Q8NI22 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-EA-A78R-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |
| MCFD2 | SNV | Missense_Mutation | c.385G>T | p.Asp129Tyr | p.D129Y | Q8NI22 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AD-6964-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Chemotherapy | folfox | PD | |
| MCFD2 | SNV | Missense_Mutation | c.242A>T | p.Asp81Val | p.D81V | Q8NI22 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-D5-6537-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Unknown | Unknown | PD | |
| MCFD2 | SNV | Missense_Mutation | c.364G>T | p.Asp122Tyr | p.D122Y | Q8NI22 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AG-3892-01 | Colorectum | rectum adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| MCFD2 | SNV | Missense_Mutation | c.28N>G | p.Pro10Ala | p.P10A | Q8NI22 | protein_coding | tolerated_low_confidence(0.48) | benign(0.014) | TCGA-CI-6620-01 | Colorectum | rectum adenocarcinoma | Female | <65 | I/II | Ancillary | leucovorin | PD | |
| MCFD2 | SNV | Missense_Mutation | rs754442571 | c.203C>T | p.Ser68Leu | p.S68L | Q8NI22 | protein_coding | deleterious(0.01) | probably_damaging(0.93) | TCGA-EI-6917-01 | Colorectum | rectum adenocarcinoma | Male | <65 | III/IV | Chemotherapy | 5fluorouracil+oxaciplatina+l-folinian | SD |
| MCFD2 | SNV | Missense_Mutation | rs747338625 | c.70N>A | p.Ala24Thr | p.A24T | Q8NI22 | protein_coding | tolerated_low_confidence(0.26) | benign(0) | TCGA-AX-A06F-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
| MCFD2 | SNV | Missense_Mutation | novel | c.92C>A | p.Ala31Asp | p.A31D | Q8NI22 | protein_coding | tolerated(0.21) | benign(0.005) | TCGA-AX-A2HA-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| MCFD2 | SNV | Missense_Mutation | rs746904307 | c.302N>G | p.His101Arg | p.H101R | Q8NI22 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-UB-A7MB-01 | Liver | liver hepatocellular carcinoma | Male | <65 | I/II | Targeted Molecular therapy | sorafenib | PD |
| MCFD2 | SNV | Missense_Mutation | rs768254017 | c.65C>T | p.Pro22Leu | p.P22L | Q8NI22 | protein_coding | tolerated_low_confidence(0.75) | benign(0) | TCGA-64-5775-01 | Lung | lung adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | carboplatin | PD |
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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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