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Gene: MVB12B |
Gene summary for MVB12B |
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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 |
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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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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 |
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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: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 |
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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 |
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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 |
MVB12B | SNV | Missense_Mutation | rs759410517 | c.398N>T | p.Thr133Met | p.T133M | Q9H7P6 | protein_coding | deleterious(0.02) | probably_damaging(1) | TCGA-FI-A2D0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MVB12B | SNV | Missense_Mutation | novel | c.301N>C | p.Ser101Pro | p.S101P | Q9H7P6 | protein_coding | tolerated(0.16) | benign(0) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
MVB12B | SNV | Missense_Mutation | novel | c.340N>G | p.Met114Val | p.M114V | Q9H7P6 | protein_coding | tolerated(0.16) | benign(0.223) | TCGA-DD-AACG-01 | Liver | liver hepatocellular carcinoma | Male | <65 | I/II | Unknown | Unknown | PD |
MVB12B | SNV | Missense_Mutation | c.160G>T | p.Gly54Trp | p.G54W | Q9H7P6 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-05-4396-01 | Lung | lung adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | SD | |
MVB12B | SNV | Missense_Mutation | novel | c.316N>G | p.His106Asp | p.H106D | Q9H7P6 | protein_coding | deleterious(0.02) | possibly_damaging(0.677) | TCGA-21-1080-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
MVB12B | SNV | Missense_Mutation | novel | c.345N>T | p.Lys115Asn | p.K115N | Q9H7P6 | protein_coding | deleterious(0.01) | probably_damaging(0.915) | TCGA-33-AASL-01 | Lung | lung squamous cell carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
MVB12B | SNV | Missense_Mutation | novel | c.496A>T | p.Met166Leu | p.M166L | Q9H7P6 | protein_coding | tolerated(1) | benign(0) | TCGA-85-8479-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
MVB12B | SNV | Missense_Mutation | novel | c.599N>T | p.Ser200Leu | p.S200L | Q9H7P6 | protein_coding | tolerated(0.25) | benign(0.294) | TCGA-CR-6480-01 | Oral cavity | head & neck squamous cell carcinoma | Male | <65 | I/II | Chemotherapy | paclitaxel | SD |
MVB12B | SNV | Missense_Mutation | novel | c.328G>A | p.Val110Met | p.V110M | Q9H7P6 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-XK-AAIW-01 | Prostate | prostate adenocarcinoma | Male | >=65 | 9 | Unknown | Unknown | PD |
MVB12B | SNV | Missense_Mutation | rs755037370 | c.502N>T | p.Arg168Trp | p.R168W | Q9H7P6 | protein_coding | deleterious(0) | probably_damaging(0.981) | TCGA-BR-4201-01 | Stomach | stomach adenocarcinoma | Female | >=65 | I/II | Chemotherapy | 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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