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Gene: TMBIM4 |
Gene summary for TMBIM4 |
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Gene information | Species | Human | Gene symbol | TMBIM4 | Gene ID | 51643 |
Gene name | transmembrane BAX inhibitor motif containing 4 | |
Gene Alias | CGI-119 | |
Cytomap | 12q14.3 | |
Gene Type | protein-coding | GO ID | GO:0006915 | UniProtAcc | G3XAA5 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
51643 | TMBIM4 | P22T-E | Human | Esophagus | ESCC | 1.09e-39 | 6.02e-01 | 0.1236 |
51643 | TMBIM4 | P23T-E | Human | Esophagus | ESCC | 1.35e-47 | 1.30e+00 | 0.108 |
51643 | TMBIM4 | P24T-E | Human | Esophagus | ESCC | 1.17e-29 | 7.04e-01 | 0.1287 |
51643 | TMBIM4 | P26T-E | Human | Esophagus | ESCC | 2.26e-40 | 8.70e-01 | 0.1276 |
51643 | TMBIM4 | P27T-E | Human | Esophagus | ESCC | 5.31e-30 | 7.18e-01 | 0.1055 |
51643 | TMBIM4 | P28T-E | Human | Esophagus | ESCC | 2.91e-15 | 3.47e-01 | 0.1149 |
51643 | TMBIM4 | P30T-E | Human | Esophagus | ESCC | 4.95e-35 | 1.25e+00 | 0.137 |
51643 | TMBIM4 | P31T-E | Human | Esophagus | ESCC | 1.45e-31 | 6.09e-01 | 0.1251 |
51643 | TMBIM4 | P32T-E | Human | Esophagus | ESCC | 1.45e-46 | 9.97e-01 | 0.1666 |
51643 | TMBIM4 | P36T-E | Human | Esophagus | ESCC | 2.23e-20 | 6.93e-01 | 0.1187 |
51643 | TMBIM4 | P37T-E | Human | Esophagus | ESCC | 1.04e-46 | 1.06e+00 | 0.1371 |
51643 | TMBIM4 | P38T-E | Human | Esophagus | ESCC | 7.98e-11 | 4.67e-01 | 0.127 |
51643 | TMBIM4 | P39T-E | Human | Esophagus | ESCC | 3.89e-22 | 4.07e-01 | 0.0894 |
51643 | TMBIM4 | P40T-E | Human | Esophagus | ESCC | 2.29e-25 | 6.92e-01 | 0.109 |
51643 | TMBIM4 | P42T-E | Human | Esophagus | ESCC | 1.65e-29 | 8.14e-01 | 0.1175 |
51643 | TMBIM4 | P44T-E | Human | Esophagus | ESCC | 1.35e-37 | 1.05e+00 | 0.1096 |
51643 | TMBIM4 | P47T-E | Human | Esophagus | ESCC | 8.66e-83 | 2.10e+00 | 0.1067 |
51643 | TMBIM4 | P48T-E | Human | Esophagus | ESCC | 4.86e-25 | 5.12e-01 | 0.0959 |
51643 | TMBIM4 | P49T-E | Human | Esophagus | ESCC | 9.23e-12 | 1.00e+00 | 0.1768 |
51643 | TMBIM4 | P52T-E | Human | Esophagus | ESCC | 7.19e-33 | 9.98e-01 | 0.1555 |
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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). |
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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00508481 | Breast | DCIS | regulation of calcium-mediated signaling | 12/1390 | 73/18723 | 7.17e-03 | 4.85e-02 | 12 |
GO:0050848 | Liver | Cyst | regulation of calcium-mediated signaling | 8/496 | 73/18723 | 6.81e-04 | 1.88e-02 | 8 |
GO:00508483 | Thyroid | ATC | regulation of calcium-mediated signaling | 36/6293 | 73/18723 | 3.91e-03 | 1.70e-02 | 36 |
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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 |
TMBIM4 | SNV | Missense_Mutation | c.761N>A | p.Pro254His | p.P254H | protein_coding | deleterious(0) | probably_damaging(0.973) | TCGA-A8-A09Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
TMBIM4 | SNV | Missense_Mutation | rs765685858 | c.691G>A | p.Ala231Thr | p.A231T | protein_coding | tolerated(0.06) | benign(0.065) | TCGA-D8-A13Z-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine | SD | |
TMBIM4 | deletion | Frame_Shift_Del | novel | c.30delN | p.Ser11ProfsTer35 | p.S11Pfs*35 | protein_coding | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD | |||
TMBIM4 | SNV | Missense_Mutation | c.244N>G | p.Leu82Val | p.L82V | protein_coding | deleterious(0.02) | benign(0.421) | TCGA-IR-A3LK-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | cisplatin | PD | ||
TMBIM4 | SNV | Missense_Mutation | c.25N>T | p.Pro9Ser | p.P9S | protein_coding | tolerated(0.09) | benign(0.341) | TCGA-UC-A7PF-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | ||
TMBIM4 | SNV | Missense_Mutation | novel | c.706N>T | p.Leu236Phe | p.L236F | protein_coding | deleterious(0.04) | possibly_damaging(0.734) | TCGA-VS-A9V5-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | carboplatin | PD | |
TMBIM4 | SNV | Missense_Mutation | c.458N>C | p.Leu153Pro | p.L153P | protein_coding | deleterious(0) | possibly_damaging(0.894) | TCGA-AA-3667-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
TMBIM4 | SNV | Missense_Mutation | c.367T>C | p.Phe123Leu | p.F123L | protein_coding | tolerated(0.3) | benign(0.003) | TCGA-AZ-4308-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Targeted Molecular therapy | avastin | CR | ||
TMBIM4 | SNV | Missense_Mutation | c.469N>G | p.Leu157Val | p.L157V | protein_coding | tolerated(0.18) | benign(0.011) | TCGA-AG-A00H-01 | Colorectum | rectum adenocarcinoma | Male | >=65 | I/II | Chemotherapy | 5-fluorouracil | PD | ||
TMBIM4 | SNV | Missense_Mutation | c.711C>A | p.Phe237Leu | p.F237L | protein_coding | deleterious(0) | probably_damaging(0.98) | TCGA-AP-A056-01 | Endometrium | uterine corpus endometrioid carcinoma | 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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