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Gene: MBNL3 |
Gene summary for MBNL3 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | MBNL3 | Gene ID | 55796 |
| Gene name | muscleblind like splicing regulator 3 | |
| Gene Alias | CHCR | |
| Cytomap | Xq26.2 | |
| Gene Type | protein-coding | GO ID | GO:0000375 | UniProtAcc | Q9NUK0 |
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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 |
| 55796 | MBNL3 | NAFLD1 | Human | Liver | NAFLD | 2.56e-04 | 4.49e-01 | -0.04 |
| 55796 | MBNL3 | S42 | Human | Liver | HCC | 1.19e-02 | 5.64e-01 | -0.0103 |
| 55796 | MBNL3 | S44 | Human | Liver | HCC | 2.67e-02 | 6.08e-01 | -0.0083 |
| 55796 | MBNL3 | HCC1_Meng | Human | Liver | HCC | 4.79e-60 | 1.90e-01 | 0.0246 |
| 55796 | MBNL3 | HCC2_Meng | Human | Liver | HCC | 1.12e-32 | 2.51e-01 | 0.0107 |
| 55796 | MBNL3 | HCC1 | Human | Liver | HCC | 2.63e-21 | 5.64e+00 | 0.5336 |
| 55796 | MBNL3 | HCC2 | Human | Liver | HCC | 5.10e-11 | 3.77e+00 | 0.5341 |
| 55796 | MBNL3 | Pt14.a | Human | Liver | HCC | 9.10e-03 | 3.72e-01 | 0.0169 |
| 55796 | MBNL3 | S014 | Human | Liver | HCC | 3.02e-35 | 1.52e+00 | 0.2254 |
| 55796 | MBNL3 | S015 | Human | Liver | HCC | 2.92e-26 | 1.59e+00 | 0.2375 |
| 55796 | MBNL3 | S016 | Human | Liver | HCC | 3.83e-32 | 1.32e+00 | 0.2243 |
| 55796 | MBNL3 | S028 | Human | Liver | HCC | 6.07e-07 | 4.13e-01 | 0.2503 |
| 55796 | MBNL3 | S029 | Human | Liver | HCC | 4.95e-05 | 3.95e-01 | 0.2581 |
| Page: 1 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease |
| ∗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:19033116 | Liver | NAFLD | regulation of mRNA metabolic process | 66/1882 | 288/18723 | 1.06e-10 | 2.96e-08 | 66 |
| GO:00434847 | Liver | NAFLD | regulation of RNA splicing | 35/1882 | 148/18723 | 1.14e-06 | 5.55e-05 | 35 |
| GO:00506846 | Liver | NAFLD | regulation of mRNA processing | 33/1882 | 137/18723 | 1.47e-06 | 6.73e-05 | 33 |
| GO:00480247 | Liver | NAFLD | regulation of mRNA splicing, via spliceosome | 26/1882 | 101/18723 | 5.10e-06 | 1.89e-04 | 26 |
| GO:00083807 | Liver | NAFLD | RNA splicing | 70/1882 | 434/18723 | 4.62e-05 | 1.10e-03 | 70 |
| GO:00003806 | Liver | NAFLD | alternative mRNA splicing, via spliceosome | 20/1882 | 77/18723 | 5.30e-05 | 1.21e-03 | 20 |
| GO:00003816 | Liver | NAFLD | regulation of alternative mRNA splicing, via spliceosome | 17/1882 | 60/18723 | 5.81e-05 | 1.30e-03 | 17 |
| GO:00003777 | Liver | NAFLD | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 51/1882 | 320/18723 | 6.21e-04 | 8.18e-03 | 51 |
| GO:00003987 | Liver | NAFLD | mRNA splicing, via spliceosome | 51/1882 | 320/18723 | 6.21e-04 | 8.18e-03 | 51 |
| GO:00003757 | Liver | NAFLD | RNA splicing, via transesterification reactions | 51/1882 | 324/18723 | 8.28e-04 | 1.02e-02 | 51 |
| GO:000838022 | Liver | HCC | RNA splicing | 313/7958 | 434/18723 | 1.36e-36 | 1.73e-33 | 313 |
| GO:000037522 | Liver | HCC | RNA splicing, via transesterification reactions | 228/7958 | 324/18723 | 1.47e-24 | 4.06e-22 | 228 |
| GO:000037722 | Liver | HCC | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 224/7958 | 320/18723 | 1.16e-23 | 2.62e-21 | 224 |
| GO:000039822 | Liver | HCC | mRNA splicing, via spliceosome | 224/7958 | 320/18723 | 1.16e-23 | 2.62e-21 | 224 |
| GO:190331121 | Liver | HCC | regulation of mRNA metabolic process | 205/7958 | 288/18723 | 3.38e-23 | 6.90e-21 | 205 |
| GO:004348422 | Liver | HCC | regulation of RNA splicing | 113/7958 | 148/18723 | 4.32e-17 | 4.15e-15 | 113 |
| GO:005068421 | Liver | HCC | regulation of mRNA processing | 106/7958 | 137/18723 | 7.64e-17 | 7.12e-15 | 106 |
| GO:004802422 | Liver | HCC | regulation of mRNA splicing, via spliceosome | 74/7958 | 101/18723 | 3.29e-10 | 1.10e-08 | 74 |
| GO:000038021 | Liver | HCC | alternative mRNA splicing, via spliceosome | 52/7958 | 77/18723 | 7.87e-06 | 9.27e-05 | 52 |
| GO:000038121 | Liver | HCC | regulation of alternative mRNA splicing, via spliceosome | 37/7958 | 60/18723 | 2.13e-03 | 1.07e-02 | 37 |
| Page: 1 |
| 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 |
| MBNL3 | SNV | Missense_Mutation | novel | c.731C>T | p.Ala244Val | p.A244V | Q9NUK0 | protein_coding | tolerated(0.06) | probably_damaging(0.998) | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
| MBNL3 | SNV | Missense_Mutation | c.1024N>A | p.Pro342Thr | p.P342T | Q9NUK0 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-C8-A26Y-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| MBNL3 | SNV | Missense_Mutation | novel | c.19N>A | p.Ala7Thr | p.A7T | Q9NUK0 | protein_coding | tolerated(0.58) | benign(0.001) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| MBNL3 | SNV | Missense_Mutation | c.1022N>G | p.Val341Gly | p.V341G | Q9NUK0 | protein_coding | deleterious(0) | possibly_damaging(0.894) | TCGA-F4-6703-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
| MBNL3 | SNV | Missense_Mutation | novel | c.916N>T | p.Pro306Ser | p.P306S | Q9NUK0 | protein_coding | deleterious(0.01) | benign(0.396) | TCGA-AG-A00C-01 | Colorectum | rectum adenocarcinoma | Female | <65 | III/IV | Chemotherapy | 5-fluorouracil | CR |
| MBNL3 | SNV | Missense_Mutation | c.191N>A | p.Arg64Gln | p.R64Q | Q9NUK0 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-A5-A0GB-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| MBNL3 | SNV | Missense_Mutation | novel | c.17T>C | p.Val6Ala | p.V6A | Q9NUK0 | protein_coding | deleterious(0.05) | benign(0.311) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| MBNL3 | SNV | Missense_Mutation | novel | c.977N>T | p.Ala326Val | p.A326V | Q9NUK0 | protein_coding | tolerated(0.05) | probably_damaging(0.997) | TCGA-AJ-A3EK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
| MBNL3 | SNV | Missense_Mutation | novel | c.62N>T | p.Arg21Ile | p.R21I | Q9NUK0 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AJ-A3EK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
| MBNL3 | SNV | Missense_Mutation | rs757276951 | c.325N>A | p.Ala109Thr | p.A109T | Q9NUK0 | protein_coding | tolerated(0.34) | benign(0.114) | TCGA-AJ-A5DW-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| 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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