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Gene: MBNL2 |
Gene summary for MBNL2 |
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Gene information | Species | Human | Gene symbol | MBNL2 | Gene ID | 10150 |
Gene name | muscleblind like splicing regulator 2 | |
Gene Alias | MBLL | |
Cytomap | 13q32.1 | |
Gene Type | protein-coding | GO ID | GO:0000375 | UniProtAcc | Q5VZF2 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
10150 | MBNL2 | CCI_2 | Human | Cervix | CC | 1.15e-14 | 1.81e+00 | 0.5249 |
10150 | MBNL2 | CCI_3 | Human | Cervix | CC | 1.37e-02 | 5.11e-01 | 0.516 |
10150 | MBNL2 | HTA11_3410_2000001011 | Human | Colorectum | AD | 3.83e-14 | -4.44e-01 | 0.0155 |
10150 | MBNL2 | HTA11_99999965104_69814 | Human | Colorectum | MSS | 1.63e-10 | 8.70e-01 | 0.281 |
10150 | MBNL2 | HTA11_99999971662_82457 | Human | Colorectum | MSS | 9.69e-07 | 7.42e-01 | 0.3859 |
10150 | MBNL2 | HTA11_99999973899_84307 | Human | Colorectum | MSS | 1.52e-03 | -4.77e-01 | 0.2585 |
10150 | MBNL2 | HTA11_99999974143_84620 | Human | Colorectum | MSS | 1.11e-08 | -4.71e-01 | 0.3005 |
10150 | MBNL2 | F007 | Human | Colorectum | FAP | 1.68e-02 | 1.58e-01 | 0.1176 |
10150 | MBNL2 | A015-C-203 | Human | Colorectum | FAP | 4.37e-28 | -4.01e-01 | -0.1294 |
10150 | MBNL2 | A015-C-204 | Human | Colorectum | FAP | 5.13e-05 | -2.23e-01 | -0.0228 |
10150 | MBNL2 | A014-C-040 | Human | Colorectum | FAP | 2.33e-03 | -4.35e-02 | -0.1184 |
10150 | MBNL2 | A002-C-201 | Human | Colorectum | FAP | 1.43e-13 | -3.38e-01 | 0.0324 |
10150 | MBNL2 | A002-C-203 | Human | Colorectum | FAP | 1.87e-04 | -5.12e-02 | 0.2786 |
10150 | MBNL2 | A001-C-119 | Human | Colorectum | FAP | 4.07e-08 | -4.31e-01 | -0.1557 |
10150 | MBNL2 | A001-C-108 | Human | Colorectum | FAP | 1.48e-18 | -2.90e-01 | -0.0272 |
10150 | MBNL2 | A002-C-205 | Human | Colorectum | FAP | 2.83e-21 | -3.87e-01 | -0.1236 |
10150 | MBNL2 | A015-C-006 | Human | Colorectum | FAP | 3.74e-16 | -4.33e-01 | -0.0994 |
10150 | MBNL2 | A015-C-106 | Human | Colorectum | FAP | 8.43e-12 | -1.73e-01 | -0.0511 |
10150 | MBNL2 | A002-C-114 | Human | Colorectum | FAP | 2.18e-20 | -4.33e-01 | -0.1561 |
10150 | MBNL2 | A015-C-104 | Human | Colorectum | FAP | 4.96e-33 | -4.61e-01 | -0.1899 |
Page: 1 2 3 4 5 6 7 8 9 10 11 |
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∗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 |
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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 |
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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: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: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: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 |
GO:0048024 | Colorectum | AD | regulation of mRNA splicing, via spliceosome | 50/3918 | 101/18723 | 1.62e-10 | 1.56e-08 | 50 |
GO:0050684 | Colorectum | AD | regulation of mRNA processing | 61/3918 | 137/18723 | 4.23e-10 | 3.58e-08 | 61 |
GO:0000380 | Colorectum | AD | alternative mRNA splicing, via spliceosome | 33/3918 | 77/18723 | 1.13e-05 | 2.55e-04 | 33 |
GO:0000381 | Colorectum | AD | regulation of alternative mRNA splicing, via spliceosome | 27/3918 | 60/18723 | 2.41e-05 | 4.66e-04 | 27 |
GO:00083802 | Colorectum | MSS | RNA splicing | 159/3467 | 434/18723 | 1.75e-19 | 1.22e-16 | 159 |
GO:19033112 | Colorectum | MSS | regulation of mRNA metabolic process | 115/3467 | 288/18723 | 1.23e-17 | 6.41e-15 | 115 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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Cell-cell communication analysis |
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Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
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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. |
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Somatic mutation of malignant transformation related genes |
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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 |
MBNL2 | SNV | Missense_Mutation | c.624C>G | p.Ile208Met | p.I208M | Q5VZF2 | protein_coding | deleterious(0.03) | benign(0.058) | TCGA-39-5024-01 | Lung | lung squamous cell carcinoma | Female | >=65 | III/IV | Chemotherapy | carboplatin | SD | |
MBNL2 | SNV | Missense_Mutation | novel | c.251G>T | p.Arg84Met | p.R84M | Q5VZF2 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-46-3766-01 | Lung | lung squamous cell carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MBNL2 | SNV | Missense_Mutation | c.366N>G | p.Ile122Met | p.I122M | Q5VZF2 | protein_coding | tolerated(0.07) | benign(0.007) | TCGA-51-4079-01 | Lung | lung squamous cell carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
MBNL2 | SNV | Missense_Mutation | c.1076A>G | p.Tyr359Cys | p.Y359C | Q5VZF2 | protein_coding | deleterious_low_confidence(0) | benign(0.001) | TCGA-J4-A6G3-01 | Prostate | prostate adenocarcinoma | Male | <65 | 8 | Hormone Therapy | leuprolide | PD | |
MBNL2 | SNV | Missense_Mutation | c.347N>C | p.Phe116Ser | p.F116S | Q5VZF2 | protein_coding | deleterious(0.04) | possibly_damaging(0.468) | TCGA-BR-4361-01 | Stomach | stomach adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD | |
MBNL2 | SNV | Missense_Mutation | rs148388439 | c.764N>T | p.Ala255Val | p.A255V | Q5VZF2 | protein_coding | deleterious(0.04) | benign(0.356) | TCGA-BR-4370-01 | Stomach | stomach adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MBNL2 | SNV | Missense_Mutation | c.875C>T | p.Ala292Val | p.A292V | Q5VZF2 | protein_coding | deleterious(0.04) | benign(0.034) | TCGA-BR-8487-01 | Stomach | stomach adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
MBNL2 | SNV | Missense_Mutation | c.649G>A | p.Val217Ile | p.V217I | Q5VZF2 | protein_coding | tolerated(0.17) | possibly_damaging(0.657) | TCGA-BR-8590-01 | Stomach | stomach adenocarcinoma | Male | <65 | III/IV | Chemotherapy | etoposide | PD | |
MBNL2 | SNV | Missense_Mutation | novel | c.845N>G | p.Gln282Arg | p.Q282R | Q5VZF2 | protein_coding | deleterious(0.03) | benign(0.112) | TCGA-CG-4460-01 | Stomach | stomach adenocarcinoma | Female | >=65 | III/IV | Chemotherapy | capecitabine | PD |
MBNL2 | SNV | Missense_Mutation | c.892N>A | p.Val298Ile | p.V298I | Q5VZF2 | protein_coding | tolerated(0.27) | benign(0.006) | TCGA-D7-A4YV-01 | Stomach | stomach adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
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Related drugs of malignant transformation related genes |
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(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
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