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Gene: MTHFD2L |
Gene summary for MTHFD2L |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | MTHFD2L | Gene ID | 441024 |
| Gene name | methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2 like | |
| Gene Alias | MTHFD2L | |
| Cytomap | 4q13.3 | |
| Gene Type | protein-coding | GO ID | GO:0000096 | UniProtAcc | A0A024RDE0 |
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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 |
| 441024 | MTHFD2L | LZE8T | Human | Esophagus | ESCC | 6.47e-06 | 1.05e-01 | 0.067 |
| 441024 | MTHFD2L | LZE24T | Human | Esophagus | ESCC | 2.60e-05 | 1.52e-01 | 0.0596 |
| 441024 | MTHFD2L | LZE6T | Human | Esophagus | ESCC | 4.96e-10 | 6.96e-01 | 0.0845 |
| 441024 | MTHFD2L | P1T-E | Human | Esophagus | ESCC | 3.72e-06 | 2.76e-01 | 0.0875 |
| 441024 | MTHFD2L | P2T-E | Human | Esophagus | ESCC | 9.80e-11 | 3.00e-01 | 0.1177 |
| 441024 | MTHFD2L | P4T-E | Human | Esophagus | ESCC | 1.23e-21 | 5.47e-01 | 0.1323 |
| 441024 | MTHFD2L | P5T-E | Human | Esophagus | ESCC | 5.91e-09 | 1.37e-01 | 0.1327 |
| 441024 | MTHFD2L | P8T-E | Human | Esophagus | ESCC | 4.31e-23 | 2.96e-01 | 0.0889 |
| 441024 | MTHFD2L | P9T-E | Human | Esophagus | ESCC | 3.68e-07 | 1.45e-01 | 0.1131 |
| 441024 | MTHFD2L | P10T-E | Human | Esophagus | ESCC | 3.07e-12 | 3.18e-01 | 0.116 |
| 441024 | MTHFD2L | P11T-E | Human | Esophagus | ESCC | 8.47e-07 | 5.24e-01 | 0.1426 |
| 441024 | MTHFD2L | P12T-E | Human | Esophagus | ESCC | 1.51e-19 | 2.35e-01 | 0.1122 |
| 441024 | MTHFD2L | P15T-E | Human | Esophagus | ESCC | 7.28e-10 | 2.12e-01 | 0.1149 |
| 441024 | MTHFD2L | P16T-E | Human | Esophagus | ESCC | 5.56e-14 | 3.21e-01 | 0.1153 |
| 441024 | MTHFD2L | P17T-E | Human | Esophagus | ESCC | 2.39e-04 | 2.05e-01 | 0.1278 |
| 441024 | MTHFD2L | P21T-E | Human | Esophagus | ESCC | 9.93e-52 | 1.20e+00 | 0.1617 |
| 441024 | MTHFD2L | P22T-E | Human | Esophagus | ESCC | 1.14e-15 | 2.11e-01 | 0.1236 |
| 441024 | MTHFD2L | P23T-E | Human | Esophagus | ESCC | 1.38e-25 | 6.04e-01 | 0.108 |
| 441024 | MTHFD2L | P24T-E | Human | Esophagus | ESCC | 9.75e-14 | 1.84e-01 | 0.1287 |
| 441024 | MTHFD2L | P26T-E | Human | Esophagus | ESCC | 2.43e-31 | 5.45e-01 | 0.1276 |
| Page: 1 2 3 4 5 |
| 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 | ||
| Lung |  | AAH: Atypical adenomatous hyperplasia |
| AIS: Adenocarcinoma in situ | ||
| IAC: Invasive lung adenocarcinoma | ||
| MIA: Minimally invasive adenocarcinoma | ||
| 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 | ||
| 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). |
| 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:0006753110 | Esophagus | ESCC | nucleoside phosphate metabolic process | 288/8552 | 497/18723 | 1.80e-08 | 3.50e-07 | 288 |
| GO:0009117111 | Esophagus | ESCC | nucleotide metabolic process | 282/8552 | 489/18723 | 4.70e-08 | 8.50e-07 | 282 |
| GO:00067906 | Esophagus | ESCC | sulfur compound metabolic process | 201/8552 | 339/18723 | 2.64e-07 | 3.94e-06 | 201 |
| GO:0072521111 | Esophagus | ESCC | purine-containing compound metabolic process | 238/8552 | 416/18723 | 1.20e-06 | 1.49e-05 | 238 |
| GO:00442725 | Esophagus | ESCC | sulfur compound biosynthetic process | 96/8552 | 148/18723 | 1.86e-06 | 2.16e-05 | 96 |
| GO:0006163111 | Esophagus | ESCC | purine nucleotide metabolic process | 226/8552 | 396/18723 | 2.81e-06 | 3.21e-05 | 226 |
| GO:000916516 | Esophagus | ESCC | nucleotide biosynthetic process | 150/8552 | 254/18723 | 1.12e-05 | 1.06e-04 | 150 |
| GO:190129316 | Esophagus | ESCC | nucleoside phosphate biosynthetic process | 151/8552 | 256/18723 | 1.15e-05 | 1.08e-04 | 151 |
| GO:007252217 | Esophagus | ESCC | purine-containing compound biosynthetic process | 120/8552 | 200/18723 | 3.02e-05 | 2.51e-04 | 120 |
| GO:00065757 | Esophagus | ESCC | cellular modified amino acid metabolic process | 112/8552 | 188/18723 | 8.31e-05 | 6.06e-04 | 112 |
| GO:000616417 | Esophagus | ESCC | purine nucleotide biosynthetic process | 113/8552 | 191/18723 | 1.16e-04 | 8.04e-04 | 113 |
| GO:00086525 | Esophagus | ESCC | cellular amino acid biosynthetic process | 51/8552 | 76/18723 | 1.30e-04 | 8.88e-04 | 51 |
| GO:00067671 | Esophagus | ESCC | water-soluble vitamin metabolic process | 41/8552 | 59/18723 | 1.84e-04 | 1.17e-03 | 41 |
| GO:00463948 | Esophagus | ESCC | carboxylic acid biosynthetic process | 175/8552 | 314/18723 | 1.98e-04 | 1.26e-03 | 175 |
| GO:00067661 | Esophagus | ESCC | vitamin metabolic process | 67/8552 | 106/18723 | 2.03e-04 | 1.28e-03 | 67 |
| GO:00160538 | Esophagus | ESCC | organic acid biosynthetic process | 175/8552 | 316/18723 | 3.04e-04 | 1.82e-03 | 175 |
| GO:00425584 | Esophagus | ESCC | pteridine-containing compound metabolic process | 25/8552 | 33/18723 | 4.30e-04 | 2.43e-03 | 25 |
| GO:19016075 | Esophagus | ESCC | alpha-amino acid biosynthetic process | 45/8552 | 68/18723 | 5.13e-04 | 2.84e-03 | 45 |
| GO:00090674 | Esophagus | ESCC | aspartate family amino acid biosynthetic process | 17/8552 | 21/18723 | 1.03e-03 | 5.19e-03 | 17 |
| GO:00436485 | Esophagus | ESCC | dicarboxylic acid metabolic process | 58/8552 | 96/18723 | 2.55e-03 | 1.09e-02 | 58 |
| Page: 1 2 3 4 5 6 7 8 9 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa012405 | Esophagus | ESCC | Biosynthesis of cofactors | 97/4205 | 153/8465 | 3.88e-04 | 1.35e-03 | 6.94e-04 | 97 |
| hsa0124012 | Esophagus | ESCC | Biosynthesis of cofactors | 97/4205 | 153/8465 | 3.88e-04 | 1.35e-03 | 6.94e-04 | 97 |
| hsa01240 | Liver | Cirrhotic | Biosynthesis of cofactors | 66/2530 | 153/8465 | 3.11e-04 | 1.99e-03 | 1.23e-03 | 66 |
| hsa012401 | Liver | Cirrhotic | Biosynthesis of cofactors | 66/2530 | 153/8465 | 3.11e-04 | 1.99e-03 | 1.23e-03 | 66 |
| hsa012402 | Liver | HCC | Biosynthesis of cofactors | 103/4020 | 153/8465 | 4.67e-07 | 5.05e-06 | 2.81e-06 | 103 |
| hsa006702 | Liver | HCC | One carbon pool by folate | 17/4020 | 20/8465 | 6.04e-04 | 2.50e-03 | 1.39e-03 | 17 |
| hsa012403 | Liver | HCC | Biosynthesis of cofactors | 103/4020 | 153/8465 | 4.67e-07 | 5.05e-06 | 2.81e-06 | 103 |
| hsa0067011 | Liver | HCC | One carbon pool by folate | 17/4020 | 20/8465 | 6.04e-04 | 2.50e-03 | 1.39e-03 | 17 |
| hsa012404 | Oral cavity | OSCC | Biosynthesis of cofactors | 88/3704 | 153/8465 | 3.84e-04 | 1.20e-03 | 6.12e-04 | 88 |
| hsa0124011 | Oral cavity | OSCC | Biosynthesis of cofactors | 88/3704 | 153/8465 | 3.84e-04 | 1.20e-03 | 6.12e-04 | 88 |
| 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 |
| MTHFD2L | SNV | Missense_Mutation | rs765684065 | c.808A>G | p.Ile270Val | p.I270V | Q9H903 | protein_coding | tolerated(0.62) | benign(0.163) | TCGA-A8-A08C-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | 5-fluorouracil | CR |
| MTHFD2L | SNV | Missense_Mutation | novel | c.740G>T | p.Arg247Ile | p.R247I | Q9H903 | protein_coding | deleterious(0.02) | probably_damaging(0.995) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| MTHFD2L | SNV | Missense_Mutation | rs779291421 | c.275N>C | p.Asn92Thr | p.N92T | Q9H903 | protein_coding | deleterious(0) | possibly_damaging(0.793) | TCGA-C5-A1M7-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
| MTHFD2L | SNV | Missense_Mutation | rs775868972 | c.703N>T | p.Arg235Trp | p.R235W | Q9H903 | protein_coding | deleterious(0.02) | probably_damaging(0.995) | TCGA-FU-A3TQ-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unknown | Unknown | SD |
| MTHFD2L | deletion | Frame_Shift_Del | rs761538540 | c.1033delA | p.Ile345SerfsTer48 | p.I345Sfs*48 | Q9H903 | protein_coding | TCGA-MA-AA42-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD | ||
| MTHFD2L | SNV | Missense_Mutation | rs761954094 | c.467N>A | p.Arg156Gln | p.R156Q | Q9H903 | protein_coding | tolerated(0.25) | probably_damaging(0.998) | TCGA-AD-6895-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | SD |
| MTHFD2L | SNV | Missense_Mutation | novel | c.1000N>T | p.Leu334Phe | p.L334F | Q9H903 | protein_coding | deleterious(0) | probably_damaging(0.974) | TCGA-AZ-4315-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
| MTHFD2L | SNV | Missense_Mutation | rs575932490 | c.172N>A | p.Glu58Lys | p.E58K | Q9H903 | protein_coding | tolerated(1) | benign(0.006) | TCGA-CA-6717-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | CR |
| MTHFD2L | SNV | Missense_Mutation | c.578N>T | p.Ala193Val | p.A193V | Q9H903 | protein_coding | deleterious(0) | probably_damaging(0.911) | TCGA-G4-6588-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| MTHFD2L | deletion | Frame_Shift_Del | rs761538540 | c.1033delA | p.Ile345SerfsTer48 | p.I345Sfs*48 | Q9H903 | protein_coding | TCGA-A6-6781-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Chemotherapy | oxaliplatin | SD |
| Page: 1 2 3 4 |
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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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