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Gene: MTFR1 |
Gene summary for MTFR1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | MTFR1 | Gene ID | 9650 |
| Gene name | mitochondrial fission regulator 1 | |
| Gene Alias | CHPPR | |
| Cytomap | 8q13.1 | |
| Gene Type | protein-coding | GO ID | GO:0000266 | UniProtAcc | Q15390 |
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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 |
| 9650 | MTFR1 | GSM6177620_NYU_UCEC1_lib2_lib2 | Human | Endometrium | EEC | 4.37e-02 | -8.98e-03 | -0.1875 |
| 9650 | MTFR1 | GSM6177622_NYU_UCEC3_lib1_lib1 | Human | Endometrium | EEC | 6.52e-03 | -3.75e-02 | -0.1917 |
| 9650 | MTFR1 | GSM6177622_NYU_UCEC3_lib2_lib2 | Human | Endometrium | EEC | 1.45e-03 | -2.97e-02 | -0.1916 |
| 9650 | MTFR1 | LZE4T | Human | Esophagus | ESCC | 6.37e-11 | 2.57e-01 | 0.0811 |
| 9650 | MTFR1 | LZE5T | Human | Esophagus | ESCC | 7.45e-03 | 2.85e-01 | 0.0514 |
| 9650 | MTFR1 | LZE24T | Human | Esophagus | ESCC | 7.65e-13 | 3.40e-01 | 0.0596 |
| 9650 | MTFR1 | P2T-E | Human | Esophagus | ESCC | 1.57e-15 | 2.32e-01 | 0.1177 |
| 9650 | MTFR1 | P4T-E | Human | Esophagus | ESCC | 8.51e-20 | 4.98e-01 | 0.1323 |
| 9650 | MTFR1 | P5T-E | Human | Esophagus | ESCC | 5.23e-10 | 1.98e-01 | 0.1327 |
| 9650 | MTFR1 | P8T-E | Human | Esophagus | ESCC | 6.25e-06 | 1.56e-01 | 0.0889 |
| 9650 | MTFR1 | P9T-E | Human | Esophagus | ESCC | 9.99e-03 | 1.51e-01 | 0.1131 |
| 9650 | MTFR1 | P10T-E | Human | Esophagus | ESCC | 5.60e-06 | 1.17e-01 | 0.116 |
| 9650 | MTFR1 | P11T-E | Human | Esophagus | ESCC | 4.23e-04 | 1.86e-01 | 0.1426 |
| 9650 | MTFR1 | P12T-E | Human | Esophagus | ESCC | 1.82e-21 | 4.95e-01 | 0.1122 |
| 9650 | MTFR1 | P15T-E | Human | Esophagus | ESCC | 4.93e-11 | 2.90e-01 | 0.1149 |
| 9650 | MTFR1 | P16T-E | Human | Esophagus | ESCC | 1.97e-21 | 3.50e-01 | 0.1153 |
| 9650 | MTFR1 | P17T-E | Human | Esophagus | ESCC | 4.12e-09 | 3.92e-01 | 0.1278 |
| 9650 | MTFR1 | P19T-E | Human | Esophagus | ESCC | 1.58e-02 | 2.63e-01 | 0.1662 |
| 9650 | MTFR1 | P20T-E | Human | Esophagus | ESCC | 1.19e-12 | 3.12e-01 | 0.1124 |
| 9650 | MTFR1 | P21T-E | Human | Esophagus | ESCC | 1.71e-26 | 5.92e-01 | 0.1617 |
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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 | ||
| 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 | ||
| 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). |
| 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 |
| GO:000906015 | Endometrium | EEC | aerobic respiration | 79/2168 | 189/18723 | 2.63e-26 | 3.95e-23 | 79 |
| GO:004533315 | Endometrium | EEC | cellular respiration | 83/2168 | 230/18723 | 1.72e-22 | 2.06e-19 | 83 |
| GO:001598015 | Endometrium | EEC | energy derivation by oxidation of organic compounds | 97/2168 | 318/18723 | 5.37e-20 | 3.58e-17 | 97 |
| GO:000609115 | Endometrium | EEC | generation of precursor metabolites and energy | 125/2168 | 490/18723 | 3.76e-18 | 1.88e-15 | 125 |
| GO:0006091110 | Esophagus | ESCC | generation of precursor metabolites and energy | 331/8552 | 490/18723 | 3.86e-23 | 8.45e-21 | 331 |
| GO:0045333110 | Esophagus | ESCC | cellular respiration | 173/8552 | 230/18723 | 4.53e-20 | 5.99e-18 | 173 |
| GO:0009060110 | Esophagus | ESCC | aerobic respiration | 145/8552 | 189/18723 | 2.16e-18 | 2.21e-16 | 145 |
| GO:0015980110 | Esophagus | ESCC | energy derivation by oxidation of organic compounds | 220/8552 | 318/18723 | 1.20e-17 | 1.09e-15 | 220 |
| GO:00482853 | Esophagus | ESCC | organelle fission | 301/8552 | 488/18723 | 4.64e-13 | 2.12e-11 | 301 |
| GO:00002662 | Esophagus | ESCC | mitochondrial fission | 28/8552 | 42/18723 | 4.90e-03 | 1.89e-02 | 28 |
| GO:000609122 | Liver | HCC | generation of precursor metabolites and energy | 340/7958 | 490/18723 | 4.04e-34 | 2.85e-31 | 340 |
| GO:000906012 | Liver | HCC | aerobic respiration | 147/7958 | 189/18723 | 3.13e-23 | 6.61e-21 | 147 |
| GO:004533312 | Liver | HCC | cellular respiration | 171/7958 | 230/18723 | 6.35e-23 | 1.26e-20 | 171 |
| GO:001598022 | Liver | HCC | energy derivation by oxidation of organic compounds | 221/7958 | 318/18723 | 1.02e-22 | 1.86e-20 | 221 |
| GO:0048285 | Liver | HCC | organelle fission | 254/7958 | 488/18723 | 1.07e-05 | 1.23e-04 | 254 |
| GO:0000266 | Liver | HCC | mitochondrial fission | 28/7958 | 42/18723 | 1.35e-03 | 7.26e-03 | 28 |
| GO:000609118 | Oral cavity | OSCC | generation of precursor metabolites and energy | 286/7305 | 490/18723 | 1.45e-18 | 1.71e-16 | 286 |
| GO:000906018 | Oral cavity | OSCC | aerobic respiration | 133/7305 | 189/18723 | 1.79e-18 | 2.02e-16 | 133 |
| GO:004533318 | Oral cavity | OSCC | cellular respiration | 153/7305 | 230/18723 | 2.07e-17 | 1.87e-15 | 153 |
| GO:001598018 | Oral cavity | OSCC | energy derivation by oxidation of organic compounds | 190/7305 | 318/18723 | 4.10e-14 | 2.26e-12 | 190 |
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| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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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 |
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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 |
| MTFR1 | SNV | Missense_Mutation | c.412N>A | p.Glu138Lys | p.E138K | Q15390 | protein_coding | deleterious(0.03) | benign(0.093) | TCGA-A8-A0A7-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| MTFR1 | SNV | Missense_Mutation | rs139115659 | c.314N>G | p.Asp105Gly | p.D105G | Q15390 | protein_coding | tolerated(0.42) | benign(0.003) | TCGA-AR-A0TX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| MTFR1 | SNV | Missense_Mutation | rs758744992 | c.644N>C | p.Arg215Thr | p.R215T | Q15390 | protein_coding | deleterious(0) | possibly_damaging(0.688) | TCGA-BH-A0BZ-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | CR |
| MTFR1 | SNV | Missense_Mutation | c.376G>C | p.Glu126Gln | p.E126Q | Q15390 | protein_coding | tolerated(0.1) | possibly_damaging(0.762) | TCGA-E2-A10C-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD | |
| MTFR1 | SNV | Missense_Mutation | c.530N>G | p.Ser177Cys | p.S177C | Q15390 | protein_coding | deleterious(0.04) | probably_damaging(0.937) | TCGA-DR-A0ZM-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unspecific | Cisplatin | SD | |
| MTFR1 | SNV | Missense_Mutation | c.439N>T | p.Leu147Phe | p.L147F | Q15390 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-EK-A3GK-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |
| MTFR1 | SNV | Missense_Mutation | c.735N>A | p.Met245Ile | p.M245I | Q15390 | protein_coding | tolerated(0.18) | possibly_damaging(0.729) | TCGA-Q1-A5R2-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PR | |
| MTFR1 | SNV | Missense_Mutation | novel | c.933N>T | p.Leu311Phe | p.L311F | Q15390 | protein_coding | deleterious(0.03) | benign(0.096) | TCGA-AA-3848-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | PD |
| MTFR1 | SNV | Missense_Mutation | rs754698645 | c.101N>A | p.Arg34Gln | p.R34Q | Q15390 | protein_coding | deleterious(0.02) | possibly_damaging(0.894) | TCGA-AA-3984-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| MTFR1 | SNV | Missense_Mutation | rs758010424 | c.860G>A | p.Arg287Gln | p.R287Q | Q15390 | protein_coding | tolerated(0.1) | benign(0.232) | TCGA-AA-A00N-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | 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 |
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