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Gene: MUL1 |
Gene summary for MUL1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | MUL1 | Gene ID | 79594 |
| Gene name | mitochondrial E3 ubiquitin protein ligase 1 | |
| Gene Alias | C1orf166 | |
| Cytomap | 1p36.12 | |
| Gene Type | protein-coding | GO ID | GO:0000209 | UniProtAcc | A0A024RAA0 |
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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 |
| 79594 | MUL1 | LZE4T | Human | Esophagus | ESCC | 2.04e-03 | 7.46e-02 | 0.0811 |
| 79594 | MUL1 | LZE8T | Human | Esophagus | ESCC | 2.95e-04 | 1.00e-01 | 0.067 |
| 79594 | MUL1 | LZE20T | Human | Esophagus | ESCC | 1.99e-03 | 1.08e-01 | 0.0662 |
| 79594 | MUL1 | LZE24T | Human | Esophagus | ESCC | 1.28e-02 | 1.65e-01 | 0.0596 |
| 79594 | MUL1 | LZE6T | Human | Esophagus | ESCC | 2.80e-03 | 2.44e-01 | 0.0845 |
| 79594 | MUL1 | P1T-E | Human | Esophagus | ESCC | 1.84e-02 | 1.17e-01 | 0.0875 |
| 79594 | MUL1 | P2T-E | Human | Esophagus | ESCC | 7.39e-28 | 3.33e-01 | 0.1177 |
| 79594 | MUL1 | P4T-E | Human | Esophagus | ESCC | 4.33e-10 | 1.29e-01 | 0.1323 |
| 79594 | MUL1 | P5T-E | Human | Esophagus | ESCC | 6.41e-09 | 7.27e-02 | 0.1327 |
| 79594 | MUL1 | P8T-E | Human | Esophagus | ESCC | 5.45e-12 | 1.38e-01 | 0.0889 |
| 79594 | MUL1 | P9T-E | Human | Esophagus | ESCC | 2.98e-05 | 9.54e-02 | 0.1131 |
| 79594 | MUL1 | P10T-E | Human | Esophagus | ESCC | 1.09e-16 | 2.28e-01 | 0.116 |
| 79594 | MUL1 | P11T-E | Human | Esophagus | ESCC | 7.86e-12 | 5.18e-01 | 0.1426 |
| 79594 | MUL1 | P12T-E | Human | Esophagus | ESCC | 1.54e-15 | 1.72e-01 | 0.1122 |
| 79594 | MUL1 | P15T-E | Human | Esophagus | ESCC | 2.95e-16 | 2.69e-01 | 0.1149 |
| 79594 | MUL1 | P16T-E | Human | Esophagus | ESCC | 9.89e-20 | 2.22e-01 | 0.1153 |
| 79594 | MUL1 | P17T-E | Human | Esophagus | ESCC | 7.43e-05 | 2.33e-01 | 0.1278 |
| 79594 | MUL1 | P19T-E | Human | Esophagus | ESCC | 2.91e-06 | 4.78e-01 | 0.1662 |
| 79594 | MUL1 | P20T-E | Human | Esophagus | ESCC | 6.23e-09 | 1.29e-01 | 0.1124 |
| 79594 | MUL1 | P21T-E | Human | Esophagus | ESCC | 7.12e-25 | 4.51e-01 | 0.1617 |
| 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 | ||
| 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:00603393 | Skin | cSCC | negative regulation of type I interferon-mediated signaling pathway | 11/4864 | 20/18723 | 5.40e-03 | 2.71e-02 | 11 |
| GO:19021087 | Skin | cSCC | regulation of mitochondrial membrane permeability involved in apoptotic process | 20/4864 | 45/18723 | 5.54e-03 | 2.74e-02 | 20 |
| GO:00607596 | Skin | cSCC | regulation of response to cytokine stimulus | 57/4864 | 162/18723 | 5.77e-03 | 2.85e-02 | 57 |
| GO:006056023 | Skin | cSCC | developmental growth involved in morphogenesis | 78/4864 | 234/18723 | 7.08e-03 | 3.40e-02 | 78 |
| GO:0071360 | Skin | cSCC | cellular response to exogenous dsRNA | 10/4864 | 18/18723 | 7.25e-03 | 3.44e-02 | 10 |
| GO:19049255 | Skin | cSCC | positive regulation of autophagy of mitochondrion in response to mitochondrial depolarization | 8/4864 | 13/18723 | 7.25e-03 | 3.44e-02 | 8 |
| GO:004592719 | Skin | cSCC | positive regulation of growth | 85/4864 | 259/18723 | 8.03e-03 | 3.73e-02 | 85 |
| GO:00901412 | Skin | cSCC | positive regulation of mitochondrial fission | 11/4864 | 21/18723 | 8.71e-03 | 4.01e-02 | 11 |
| GO:00458246 | Skin | cSCC | negative regulation of innate immune response | 28/4864 | 71/18723 | 8.86e-03 | 4.07e-02 | 28 |
| GO:199013823 | Skin | cSCC | neuron projection extension | 59/4864 | 172/18723 | 9.20e-03 | 4.20e-02 | 59 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 |
| 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 |
| MUL1 | SNV | Missense_Mutation | rs376018959 | c.796N>T | p.Arg266Trp | p.R266W | Q969V5 | protein_coding | tolerated(0.2) | benign(0) | TCGA-BH-A42T-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| MUL1 | insertion | Nonsense_Mutation | novel | c.250_251insGATCTGGGTCTAGAGACTGTGTATGAGAAGT | p.Val84GlyfsTer9 | p.V84Gfs*9 | Q969V5 | protein_coding | TCGA-BH-A0DS-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | cyclophosphamide | SD | ||
| MUL1 | SNV | Missense_Mutation | novel | c.901G>A | p.Ala301Thr | p.A301T | Q969V5 | protein_coding | tolerated(0.21) | benign(0.003) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| MUL1 | SNV | Missense_Mutation | c.419N>A | p.Arg140Gln | p.R140Q | Q969V5 | protein_coding | deleterious(0.01) | probably_damaging(0.998) | TCGA-EK-A3GK-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |
| MUL1 | SNV | Missense_Mutation | c.419N>A | p.Arg140Gln | p.R140Q | Q969V5 | protein_coding | deleterious(0.01) | probably_damaging(0.998) | TCGA-ZJ-AB0I-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |
| MUL1 | SNV | Missense_Mutation | c.331A>T | p.Asn111Tyr | p.N111Y | Q969V5 | protein_coding | deleterious(0.01) | probably_damaging(1) | TCGA-A6-2686-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| MUL1 | SNV | Missense_Mutation | rs139030069 | c.985N>A | p.Ala329Thr | p.A329T | Q969V5 | protein_coding | deleterious(0) | benign(0.295) | TCGA-AA-3667-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| MUL1 | SNV | Missense_Mutation | rs749366428 | c.818N>G | p.Lys273Arg | p.K273R | Q969V5 | protein_coding | tolerated(0.98) | benign(0) | TCGA-AA-3715-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
| MUL1 | SNV | Missense_Mutation | rs758966256 | c.532N>T | p.Arg178Trp | p.R178W | Q969V5 | protein_coding | deleterious(0) | probably_damaging(0.92) | TCGA-AA-3715-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
| MUL1 | SNV | Missense_Mutation | c.758N>T | p.Ala253Val | p.A253V | Q969V5 | protein_coding | tolerated(0.08) | benign(0.005) | TCGA-AD-6889-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Chemotherapy | xeloda | PD |
| Page: 1 2 3 4 5 |
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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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