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Gene: MBNL1 |
Gene summary for MBNL1 |
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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 |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
4154 | MBNL1 | A015-C-104 | Human | Colorectum | FAP | 2.25e-43 | -7.46e-01 | -0.1899 |
4154 | MBNL1 | A001-C-014 | Human | Colorectum | FAP | 1.25e-16 | -4.40e-01 | 0.0135 |
4154 | MBNL1 | A002-C-016 | Human | Colorectum | FAP | 7.99e-25 | -4.46e-01 | 0.0521 |
4154 | MBNL1 | A015-C-002 | Human | Colorectum | FAP | 2.29e-21 | -7.48e-01 | -0.0763 |
4154 | MBNL1 | A001-C-007 | Human | Colorectum | CRC | 8.47e-09 | -6.93e-01 | 0.1899 |
4154 | MBNL1 | A001-C-203 | Human | Colorectum | FAP | 9.60e-07 | -2.65e-01 | -0.0481 |
4154 | MBNL1 | A002-C-116 | Human | Colorectum | FAP | 3.82e-43 | -6.72e-01 | -0.0452 |
4154 | MBNL1 | A014-C-008 | Human | Colorectum | FAP | 3.28e-20 | -5.42e-01 | -0.191 |
4154 | MBNL1 | A018-E-020 | Human | Colorectum | FAP | 2.35e-31 | -6.54e-01 | -0.2034 |
4154 | MBNL1 | F034 | Human | Colorectum | FAP | 1.77e-27 | -6.10e-01 | -0.0665 |
4154 | MBNL1 | F072B | Human | Colorectum | FAP | 1.21e-04 | -2.62e-01 | 0.257 |
4154 | MBNL1 | CRC-1-8810 | Human | Colorectum | CRC | 5.72e-08 | -3.62e-01 | 0.6257 |
4154 | MBNL1 | CRC-3-11773 | Human | Colorectum | CRC | 1.95e-06 | -3.50e-01 | 0.2564 |
4154 | MBNL1 | LZE2D | Human | Esophagus | HGIN | 3.98e-03 | 3.93e-01 | 0.0642 |
4154 | MBNL1 | LZE2T | Human | Esophagus | ESCC | 6.60e-04 | 8.15e-01 | 0.082 |
4154 | MBNL1 | LZE4T | Human | Esophagus | ESCC | 4.75e-29 | 1.06e+00 | 0.0811 |
4154 | MBNL1 | LZE7T | Human | Esophagus | ESCC | 1.44e-20 | 1.02e+00 | 0.0667 |
4154 | MBNL1 | LZE8T | Human | Esophagus | ESCC | 4.00e-12 | 5.69e-01 | 0.067 |
4154 | MBNL1 | LZE20T | Human | Esophagus | ESCC | 2.59e-08 | 2.50e-01 | 0.0662 |
4154 | MBNL1 | LZE21D1 | Human | Esophagus | HGIN | 5.22e-06 | 7.95e-01 | 0.0632 |
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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: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 |
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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 |
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 |
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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 |
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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