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Gene: MBTD1 |
Gene summary for MBTD1 |
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Gene information | Species | Human | Gene symbol | MBTD1 | Gene ID | 54799 |
Gene name | mbt domain containing 1 | |
Gene Alias | SA49P01 | |
Cytomap | 17q21.33 | |
Gene Type | protein-coding | GO ID | GO:0001501 | UniProtAcc | Q05BQ5 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
54799 | MBTD1 | CCI_1 | Human | Cervix | CC | 2.76e-03 | 4.08e-01 | 0.528 |
54799 | MBTD1 | CCI_2 | Human | Cervix | CC | 1.70e-18 | 1.10e+00 | 0.5249 |
54799 | MBTD1 | CCI_3 | Human | Cervix | CC | 4.43e-16 | 6.72e-01 | 0.516 |
54799 | MBTD1 | HTA12-15-2 | Human | Pancreas | PDAC | 5.60e-03 | 3.54e-01 | 0.2315 |
54799 | MBTD1 | HTA12-25-1 | Human | Pancreas | PDAC | 3.71e-02 | 4.01e-01 | 0.313 |
54799 | MBTD1 | HTA12-26-1 | Human | Pancreas | PDAC | 1.56e-09 | 6.39e-01 | 0.3728 |
54799 | MBTD1 | HTA12-29-1 | Human | Pancreas | PDAC | 2.05e-18 | 5.25e-01 | 0.3722 |
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Tissue | Expression Dynamics | Abbreviation |
Cervix | ![]() | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions | ||
N_HPV: HPV-infected normal cervix |
∗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). |
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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00063257 | Cervix | CC | chromatin organization | 78/2311 | 409/18723 | 5.40e-05 | 8.02e-04 | 78 |
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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 |
MBTD1 | SNV | Missense_Mutation | c.867N>C | p.Met289Ile | p.M289I | Q05BQ5 | protein_coding | deleterious(0.01) | possibly_damaging(0.695) | TCGA-A2-A0CX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD | |
MBTD1 | SNV | Missense_Mutation | c.959N>G | p.Glu320Gly | p.E320G | Q05BQ5 | protein_coding | tolerated(0.06) | possibly_damaging(0.811) | TCGA-A8-A09Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
MBTD1 | SNV | Missense_Mutation | c.1297N>G | p.Tyr433Asp | p.Y433D | Q05BQ5 | protein_coding | deleterious(0) | probably_damaging(0.987) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
MBTD1 | SNV | Missense_Mutation | novel | c.319N>A | p.Leu107Ile | p.L107I | Q05BQ5 | protein_coding | deleterious(0.03) | possibly_damaging(0.564) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MBTD1 | SNV | Missense_Mutation | novel | c.1591N>A | p.Glu531Lys | p.E531K | Q05BQ5 | protein_coding | deleterious(0.04) | benign(0.006) | TCGA-BH-A2L8-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | CR |
MBTD1 | SNV | Missense_Mutation | c.1220G>C | p.Arg407Thr | p.R407T | Q05BQ5 | protein_coding | tolerated(0.18) | benign(0.024) | TCGA-C8-A132-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
MBTD1 | SNV | Missense_Mutation | rs749458416 | c.1547N>A | p.Arg516Gln | p.R516Q | Q05BQ5 | protein_coding | tolerated(0.09) | benign(0.357) | TCGA-E2-A14V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
MBTD1 | SNV | Missense_Mutation | c.1427T>C | p.Ile476Thr | p.I476T | Q05BQ5 | protein_coding | tolerated(0.53) | benign(0.003) | TCGA-EW-A1P6-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD | |
MBTD1 | SNV | Missense_Mutation | c.737G>C | p.Arg246Thr | p.R246T | Q05BQ5 | protein_coding | deleterious(0.01) | benign(0.127) | TCGA-DG-A2KM-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD | |
MBTD1 | SNV | Missense_Mutation | c.579N>C | p.Trp193Cys | p.W193C | Q05BQ5 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-DR-A0ZM-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unspecific | Cisplatin | 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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