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Gene: MBNL1 |
Gene summary for MBNL1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | MBNL1 | Gene ID | 4154 |
| Gene name | muscleblind like splicing regulator 1 | |
| Gene Alias | EXP | |
| Cytomap | 3q25.1-q25.2 | |
| Gene Type | protein-coding | GO ID | GO:0000375 | UniProtAcc | Q86VM6 |
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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 |
| 4154 | MBNL1 | NEOLP-2 | Human | Oral cavity | NEOLP | 7.60e-15 | 5.24e-01 | -0.0196 |
| 4154 | MBNL1 | NEOLP-3 | Human | Oral cavity | NEOLP | 3.62e-24 | 5.40e-01 | -0.0191 |
| 4154 | MBNL1 | SYSMH1 | Human | Oral cavity | OSCC | 1.92e-26 | 7.88e-01 | 0.1127 |
| 4154 | MBNL1 | SYSMH2 | Human | Oral cavity | OSCC | 3.33e-15 | 5.14e-01 | 0.2326 |
| 4154 | MBNL1 | SYSMH3 | Human | Oral cavity | OSCC | 3.26e-22 | 8.11e-01 | 0.2442 |
| 4154 | MBNL1 | SYSMH4 | Human | Oral cavity | OSCC | 1.03e-11 | -1.59e-01 | 0.1226 |
| 4154 | MBNL1 | SYSMH5 | Human | Oral cavity | OSCC | 1.31e-04 | 6.66e-02 | 0.0647 |
| 4154 | MBNL1 | HTA12-15-2 | Human | Pancreas | PDAC | 1.84e-03 | 6.76e-01 | 0.2315 |
| 4154 | MBNL1 | HTA12-16-5 | Human | Pancreas | PDAC | 1.25e-02 | 6.65e-01 | 0.047 |
| 4154 | MBNL1 | HTA12-23-1 | Human | Pancreas | PDAC | 3.34e-15 | 1.29e+00 | 0.3405 |
| 4154 | MBNL1 | HTA12-25-1 | Human | Pancreas | PDAC | 3.62e-11 | 1.07e+00 | 0.313 |
| 4154 | MBNL1 | HTA12-26-1 | Human | Pancreas | PDAC | 2.01e-22 | 1.13e+00 | 0.3728 |
| 4154 | MBNL1 | HTA12-29-1 | Human | Pancreas | PDAC | 6.02e-51 | 1.14e+00 | 0.3722 |
| 4154 | MBNL1 | HTA12-9-1 | Human | Pancreas | PDAC | 7.61e-03 | 5.90e-01 | 0.1532 |
| 4154 | MBNL1 | HTA12-9-2 | Human | Pancreas | PDAC | 4.54e-04 | 6.80e-01 | 0.0835 |
| 4154 | MBNL1 | GSM5252136_BPH556PrGA1_Fcol | Human | Prostate | BPH | 6.99e-03 | 2.57e-01 | -0.23 |
| 4154 | MBNL1 | 047563_1562-all-cells | Human | Prostate | BPH | 1.00e-34 | 8.06e-01 | 0.0791 |
| 4154 | MBNL1 | 048752_1579-all-cells | Human | Prostate | BPH | 7.91e-25 | 7.52e-01 | 0.1008 |
| 4154 | MBNL1 | 052095_1628-all-cells | Human | Prostate | BPH | 2.97e-33 | 7.98e-01 | 0.1032 |
| 4154 | MBNL1 | 052097_1595-all-cells | Human | Prostate | BPH | 3.17e-43 | 9.17e-01 | 0.0972 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Cervix |  | CC: Cervix cancer |
| HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions | ||
| N_HPV: HPV-infected normal cervix | ||
| Colorectum (GSE201348) |  | FAP: Familial adenomatous polyposis |
| CRC: Colorectal cancer | ||
| Colorectum (HTA11) |  | AD: Adenomas |
| SER: Sessile serrated lesions | ||
| MSI-H: Microsatellite-high colorectal cancer | ||
| MSS: Microsatellite stable colorectal 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 | ||
| 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 | ||
| 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). |
| 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:004348410 | Cervix | CC | regulation of RNA splicing | 42/2311 | 148/18723 | 1.25e-07 | 6.24e-06 | 42 |
| GO:19033119 | Cervix | CC | regulation of mRNA metabolic process | 64/2311 | 288/18723 | 1.71e-06 | 5.64e-05 | 64 |
| GO:004802410 | Cervix | CC | regulation of mRNA splicing, via spliceosome | 28/2311 | 101/18723 | 2.41e-05 | 4.19e-04 | 28 |
| GO:00017018 | Cervix | CC | in utero embryonic development | 71/2311 | 367/18723 | 7.21e-05 | 1.00e-03 | 71 |
| GO:00506849 | Cervix | CC | regulation of mRNA processing | 33/2311 | 137/18723 | 1.06e-04 | 1.35e-03 | 33 |
| GO:000838010 | Cervix | CC | RNA splicing | 76/2311 | 434/18723 | 9.79e-04 | 8.19e-03 | 76 |
| GO:0045445 | Cervix | CC | myoblast differentiation | 21/2311 | 84/18723 | 1.08e-03 | 8.94e-03 | 21 |
| GO:00487365 | Cervix | CC | appendage development | 35/2311 | 172/18723 | 1.88e-03 | 1.39e-02 | 35 |
| GO:00601735 | Cervix | CC | limb development | 35/2311 | 172/18723 | 1.88e-03 | 1.39e-02 | 35 |
| GO:000037710 | Cervix | CC | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 55/2311 | 320/18723 | 6.71e-03 | 3.70e-02 | 55 |
| GO:000039810 | Cervix | CC | mRNA splicing, via spliceosome | 55/2311 | 320/18723 | 6.71e-03 | 3.70e-02 | 55 |
| GO:000037510 | Cervix | CC | RNA splicing, via transesterification reactions | 55/2311 | 324/18723 | 8.61e-03 | 4.44e-02 | 55 |
| GO:00454451 | Cervix | HSIL_HPV | myoblast differentiation | 10/737 | 84/18723 | 1.67e-03 | 1.80e-02 | 10 |
| GO:004348415 | Cervix | HSIL_HPV | regulation of RNA splicing | 13/737 | 148/18723 | 5.72e-03 | 4.55e-02 | 13 |
| GO:0008380 | Colorectum | AD | RNA splicing | 169/3918 | 434/18723 | 3.59e-18 | 2.04e-15 | 169 |
| GO:0000377 | Colorectum | AD | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 130/3918 | 320/18723 | 5.88e-16 | 2.16e-13 | 130 |
| GO:0000398 | Colorectum | AD | mRNA splicing, via spliceosome | 130/3918 | 320/18723 | 5.88e-16 | 2.16e-13 | 130 |
| GO:0000375 | Colorectum | AD | RNA splicing, via transesterification reactions | 131/3918 | 324/18723 | 7.11e-16 | 2.22e-13 | 131 |
| GO:1903311 | Colorectum | AD | regulation of mRNA metabolic process | 117/3918 | 288/18723 | 1.69e-14 | 4.23e-12 | 117 |
| GO:0043484 | Colorectum | AD | regulation of RNA splicing | 70/3918 | 148/18723 | 6.47e-13 | 1.16e-10 | 70 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 |
| 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 |
| MBNL1 | SNV | Missense_Mutation | c.347N>T | p.Pro116Leu | p.P116L | Q9NR56 | protein_coding | deleterious(0.02) | benign(0.036) | TCGA-A8-A09X-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD | |
| MBNL1 | SNV | Missense_Mutation | c.895A>G | p.Lys299Glu | p.K299E | Q9NR56 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-D8-A27I-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adrimycin+cyclophosphamide | SD | |
| MBNL1 | SNV | Missense_Mutation | c.163G>A | p.Asp55Asn | p.D55N | Q9NR56 | protein_coding | deleterious(0.02) | possibly_damaging(0.899) | TCGA-D8-A27W-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicine+cyclophosphamide | SD | |
| MBNL1 | SNV | Missense_Mutation | c.154G>A | p.Ala52Thr | p.A52T | Q9NR56 | protein_coding | deleterious(0) | probably_damaging(0.962) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
| MBNL1 | SNV | Missense_Mutation | novel | c.488T>C | p.Val163Ala | p.V163A | Q9NR56 | protein_coding | tolerated(0.08) | benign(0.061) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| MBNL1 | SNV | Missense_Mutation | c.251N>A | p.Arg84His | p.R84H | Q9NR56 | protein_coding | deleterious(0.02) | probably_damaging(0.998) | TCGA-AA-3715-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD | |
| MBNL1 | SNV | Missense_Mutation | c.41N>C | p.Leu14Pro | p.L14P | Q9NR56 | protein_coding | deleterious(0.01) | benign(0.315) | TCGA-AA-3864-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
| MBNL1 | SNV | Missense_Mutation | rs753484865 | c.614C>A | p.Pro205His | p.P205H | Q9NR56 | protein_coding | deleterious(0) | probably_damaging(0.983) | TCGA-AA-3950-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| MBNL1 | SNV | Missense_Mutation | c.185N>T | p.Ser62Phe | p.S62F | Q9NR56 | protein_coding | deleterious(0) | possibly_damaging(0.847) | TCGA-F4-6459-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Unknown | Unknown | SD | |
| MBNL1 | SNV | Missense_Mutation | c.749N>T | p.Ala250Val | p.A250V | Q9NR56 | protein_coding | deleterious(0.01) | possibly_damaging(0.46) | TCGA-QG-A5Z2-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
| Page: 1 2 3 4 5 6 |
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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 |
| 4154 | MBNL1 | DRUGGABLE GENOME | MITOXANTRONE | MITOXANTRONE | ||
| 4154 | MBNL1 | DRUGGABLE GENOME | GNF-PF-5149 | CHEMBL600309 | ||
| 4154 | MBNL1 | DRUGGABLE GENOME | LOMOFUNGIN | LOMOFUNGIN | ||
| 4154 | MBNL1 | DRUGGABLE GENOME | NOR-BINALTORPHIMINE DIHYDROCHLORIDE | CHEMBL2374078 | ||
| 4154 | MBNL1 | DRUGGABLE GENOME | AZELAIC ACID | AZELAIC ACID | ||
| 4154 | MBNL1 | DRUGGABLE GENOME | NSC-95397 | CHEMBL429095 | ||
| 4154 | MBNL1 | DRUGGABLE GENOME | EPINEPHRINE BITARTRATE | EPINEPHRINE BITARTRATE | ||
| 4154 | MBNL1 | DRUGGABLE GENOME | MITOXANTRONE DIHYDROCHLORIDE | MITOXANTRONE HYDROCHLORIDE | ||
| 4154 | MBNL1 | DRUGGABLE GENOME | NOREPINEPHRINE | NOREPINEPHRINE | ||
| 4154 | MBNL1 | DRUGGABLE GENOME | RAMATROBAN | RAMATROBAN |
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