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Gene: MVB12B |
Gene summary for MVB12B |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | MVB12B | Gene ID | 89853 |
| Gene name | multivesicular body subunit 12B | |
| Gene Alias | C9orf28 | |
| Cytomap | 9q33.3 | |
| Gene Type | protein-coding | GO ID | GO:0006508 | UniProtAcc | Q9H7P6 |
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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 |
| 89853 | MVB12B | RNA-P25T1-P25T1-1 | Human | Lung | AIS | 1.48e-05 | 3.52e-01 | -0.2116 |
| 89853 | MVB12B | RNA-P25T1-P25T1-4 | Human | Lung | AIS | 2.65e-06 | 4.41e-01 | -0.2119 |
| 89853 | MVB12B | RNA-P3T-P3T-2 | Human | Lung | IAC | 1.72e-02 | 4.50e-01 | 0.1835 |
| 89853 | MVB12B | RNA-P3T-P3T-4 | Human | Lung | IAC | 1.49e-02 | 3.72e-01 | 0.1859 |
| 89853 | MVB12B | RNA-P6T1-P6T1-4 | Human | Lung | MIAC | 1.04e-02 | 5.60e-01 | -0.0263 |
| 89853 | MVB12B | RNA-P6T2-P6T2-1 | Human | Lung | IAC | 7.68e-05 | 2.87e-01 | -0.0166 |
| 89853 | MVB12B | RNA-P6T2-P6T2-2 | Human | Lung | IAC | 8.67e-04 | 2.60e-01 | -0.0132 |
| 89853 | MVB12B | RNA-P6T2-P6T2-3 | Human | Lung | IAC | 1.66e-06 | 2.91e-01 | -0.013 |
| 89853 | MVB12B | RNA-P6T2-P6T2-4 | Human | Lung | IAC | 1.38e-03 | 2.61e-01 | -0.0121 |
| 89853 | MVB12B | RNA-P7T1-P7T1-2 | Human | Lung | AIS | 5.69e-04 | 5.74e-01 | -0.0876 |
| 89853 | MVB12B | RNA-P7T1-P7T1-4 | Human | Lung | AIS | 8.18e-04 | 4.55e-01 | -0.0809 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Lung |  | AAH: Atypical adenomatous hyperplasia |
| AIS: Adenocarcinoma in situ | ||
| IAC: Invasive lung adenocarcinoma | ||
| MIA: Minimally invasive adenocarcinoma |
| ∗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:00160328 | Lung | IAC | viral process | 94/2061 | 415/18723 | 5.11e-12 | 4.27e-09 | 94 |
| GO:00190588 | Lung | IAC | viral life cycle | 77/2061 | 317/18723 | 1.23e-11 | 4.83e-09 | 77 |
| GO:00071737 | Lung | IAC | epidermal growth factor receptor signaling pathway | 31/2061 | 108/18723 | 3.51e-07 | 2.54e-05 | 31 |
| GO:00381277 | Lung | IAC | ERBB signaling pathway | 32/2061 | 121/18723 | 1.69e-06 | 8.24e-05 | 32 |
| GO:00420585 | Lung | IAC | regulation of epidermal growth factor receptor signaling pathway | 22/2061 | 73/18723 | 7.19e-06 | 2.57e-04 | 22 |
| GO:19011845 | Lung | IAC | regulation of ERBB signaling pathway | 22/2061 | 79/18723 | 2.87e-05 | 7.44e-04 | 22 |
| GO:001603213 | Lung | AIS | viral process | 85/1849 | 415/18723 | 4.74e-11 | 1.95e-08 | 85 |
| GO:001905813 | Lung | AIS | viral life cycle | 68/1849 | 317/18723 | 5.39e-10 | 1.16e-07 | 68 |
| GO:000717312 | Lung | AIS | epidermal growth factor receptor signaling pathway | 29/1849 | 108/18723 | 3.99e-07 | 3.23e-05 | 29 |
| GO:003812712 | Lung | AIS | ERBB signaling pathway | 30/1849 | 121/18723 | 1.60e-06 | 9.91e-05 | 30 |
| GO:004205811 | Lung | AIS | regulation of epidermal growth factor receptor signaling pathway | 20/1849 | 73/18723 | 1.77e-05 | 6.17e-04 | 20 |
| GO:190118411 | Lung | AIS | regulation of ERBB signaling pathway | 20/1849 | 79/18723 | 6.12e-05 | 1.67e-03 | 20 |
| GO:000717322 | Lung | MIAC | epidermal growth factor receptor signaling pathway | 20/967 | 108/18723 | 5.82e-07 | 9.33e-05 | 20 |
| GO:003812722 | Lung | MIAC | ERBB signaling pathway | 20/967 | 121/18723 | 3.70e-06 | 3.88e-04 | 20 |
| GO:001905833 | Lung | MIAC | viral life cycle | 36/967 | 317/18723 | 8.00e-06 | 7.07e-04 | 36 |
| GO:001603223 | Lung | MIAC | viral process | 39/967 | 415/18723 | 2.34e-04 | 7.89e-03 | 39 |
| GO:004205821 | Lung | MIAC | regulation of epidermal growth factor receptor signaling pathway | 12/967 | 73/18723 | 3.35e-04 | 1.01e-02 | 12 |
| GO:190118421 | Lung | MIAC | regulation of ERBB signaling pathway | 12/967 | 79/18723 | 7.04e-04 | 1.60e-02 | 12 |
| Page: 1 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa0414414 | Lung | IAC | Endocytosis | 51/1053 | 251/8465 | 2.25e-04 | 2.54e-03 | 1.68e-03 | 51 |
| hsa0414415 | Lung | IAC | Endocytosis | 51/1053 | 251/8465 | 2.25e-04 | 2.54e-03 | 1.68e-03 | 51 |
| hsa0414423 | Lung | AIS | Endocytosis | 52/961 | 251/8465 | 9.74e-06 | 3.04e-04 | 1.95e-04 | 52 |
| hsa0414433 | Lung | AIS | Endocytosis | 52/961 | 251/8465 | 9.74e-06 | 3.04e-04 | 1.95e-04 | 52 |
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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 |
| MVB12B | SNV | Missense_Mutation | novel | c.907N>A | p.Ala303Thr | p.A303T | Q9H7P6 | protein_coding | deleterious(0) | probably_damaging(0.971) | TCGA-GM-A5PX-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | CR |
| MVB12B | SNV | Missense_Mutation | novel | c.725N>G | p.Glu242Gly | p.E242G | Q9H7P6 | protein_coding | tolerated(0.11) | possibly_damaging(0.828) | TCGA-EA-A410-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
| MVB12B | SNV | Missense_Mutation | c.604N>G | p.Gln202Glu | p.Q202E | Q9H7P6 | protein_coding | tolerated(0.45) | benign(0.003) | TCGA-EK-A2PM-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD | |
| MVB12B | SNV | Missense_Mutation | c.724G>A | p.Glu242Lys | p.E242K | Q9H7P6 | protein_coding | tolerated(0.26) | possibly_damaging(0.731) | TCGA-Q1-A73O-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
| MVB12B | SNV | Missense_Mutation | novel | c.587N>T | p.Arg196Ile | p.R196I | Q9H7P6 | protein_coding | deleterious(0) | possibly_damaging(0.898) | TCGA-AG-A002-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
| MVB12B | SNV | Missense_Mutation | novel | c.904N>A | p.Ala302Thr | p.A302T | Q9H7P6 | protein_coding | deleterious(0) | benign(0.395) | TCGA-EI-6917-01 | Colorectum | rectum adenocarcinoma | Male | <65 | III/IV | Chemotherapy | 5fluorouracil+oxaciplatina+l-folinian | SD |
| MVB12B | SNV | Missense_Mutation | c.797N>T | p.Ser266Phe | p.S266F | Q9H7P6 | protein_coding | tolerated(0.08) | benign(0.006) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| MVB12B | SNV | Missense_Mutation | c.419N>A | p.Ala140Asp | p.A140D | Q9H7P6 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AX-A0J0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| MVB12B | SNV | Missense_Mutation | c.797C>A | p.Ser266Tyr | p.S266Y | Q9H7P6 | protein_coding | deleterious(0.02) | benign(0.088) | TCGA-D1-A16X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| MVB12B | SNV | Missense_Mutation | rs868665716 | c.490N>T | p.Arg164Trp | p.R164W | Q9H7P6 | protein_coding | deleterious(0) | possibly_damaging(0.905) | TCGA-EO-A3B0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
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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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