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Gene: TMBIM1 |
Gene summary for TMBIM1 |
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Gene information | Species | Human | Gene symbol | TMBIM1 | Gene ID | 64114 |
Gene name | transmembrane BAX inhibitor motif containing 1 | |
Gene Alias | LFG3 | |
Cytomap | 2q35 | |
Gene Type | protein-coding | GO ID | GO:0001974 | UniProtAcc | A0A024R472 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
64114 | TMBIM1 | ATC3 | Human | Thyroid | ATC | 1.08e-12 | 2.71e-01 | 0.338 |
64114 | TMBIM1 | ATC4 | Human | Thyroid | ATC | 9.81e-09 | 1.31e-01 | 0.34 |
64114 | TMBIM1 | ATC5 | Human | Thyroid | ATC | 8.62e-16 | 2.75e-01 | 0.34 |
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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:0072659 | Colorectum | AD | protein localization to plasma membrane | 122/3918 | 284/18723 | 2.86e-17 | 1.49e-14 | 122 |
GO:1990778 | Colorectum | AD | protein localization to cell periphery | 129/3918 | 333/18723 | 5.51e-14 | 1.15e-11 | 129 |
GO:1905475 | Colorectum | AD | regulation of protein localization to membrane | 73/3918 | 175/18723 | 3.37e-10 | 2.93e-08 | 73 |
GO:1903076 | Colorectum | AD | regulation of protein localization to plasma membrane | 48/3918 | 104/18723 | 7.17e-09 | 4.36e-07 | 48 |
GO:1904375 | Colorectum | AD | regulation of protein localization to cell periphery | 54/3918 | 125/18723 | 1.52e-08 | 9.00e-07 | 54 |
GO:2001233 | Colorectum | AD | regulation of apoptotic signaling pathway | 119/3918 | 356/18723 | 2.14e-08 | 1.21e-06 | 119 |
GO:2001234 | Colorectum | AD | negative regulation of apoptotic signaling pathway | 74/3918 | 224/18723 | 1.49e-05 | 3.18e-04 | 74 |
GO:0097191 | Colorectum | AD | extrinsic apoptotic signaling pathway | 68/3918 | 219/18723 | 2.64e-04 | 3.27e-03 | 68 |
GO:1903077 | Colorectum | AD | negative regulation of protein localization to plasma membrane | 13/3918 | 24/18723 | 3.45e-04 | 4.03e-03 | 13 |
GO:1904376 | Colorectum | AD | negative regulation of protein localization to cell periphery | 13/3918 | 26/18723 | 9.41e-04 | 8.92e-03 | 13 |
GO:1903828 | Colorectum | AD | negative regulation of cellular protein localization | 39/3918 | 117/18723 | 1.18e-03 | 1.06e-02 | 39 |
GO:00726591 | Colorectum | SER | protein localization to plasma membrane | 92/2897 | 284/18723 | 6.36e-13 | 1.86e-10 | 92 |
GO:19907781 | Colorectum | SER | protein localization to cell periphery | 98/2897 | 333/18723 | 6.09e-11 | 9.57e-09 | 98 |
GO:20012331 | Colorectum | SER | regulation of apoptotic signaling pathway | 101/2897 | 356/18723 | 3.05e-10 | 4.07e-08 | 101 |
GO:20012341 | Colorectum | SER | negative regulation of apoptotic signaling pathway | 64/2897 | 224/18723 | 3.98e-07 | 2.06e-05 | 64 |
GO:19030761 | Colorectum | SER | regulation of protein localization to plasma membrane | 36/2897 | 104/18723 | 1.12e-06 | 5.18e-05 | 36 |
GO:19054751 | Colorectum | SER | regulation of protein localization to membrane | 52/2897 | 175/18723 | 1.31e-06 | 6.04e-05 | 52 |
GO:19043751 | Colorectum | SER | regulation of protein localization to cell periphery | 40/2897 | 125/18723 | 2.85e-06 | 1.16e-04 | 40 |
GO:00971911 | Colorectum | SER | extrinsic apoptotic signaling pathway | 58/2897 | 219/18723 | 1.76e-05 | 5.22e-04 | 58 |
GO:2001236 | Colorectum | SER | regulation of extrinsic apoptotic signaling pathway | 39/2897 | 151/18723 | 6.67e-04 | 8.94e-03 | 39 |
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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 |
TMBIM1 | SNV | Missense_Mutation | novel | c.792N>A | p.Phe264Leu | p.F264L | Q969X1 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-A2-A25A-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Cytoxan | SD |
TMBIM1 | SNV | Missense_Mutation | novel | c.806N>T | p.Thr269Ile | p.T269I | Q969X1 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-AC-A3QQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TMBIM1 | SNV | Missense_Mutation | c.523N>G | p.Met175Val | p.M175V | Q969X1 | protein_coding | deleterious(0) | benign(0.217) | TCGA-EW-A1OZ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Targeted Molecular therapy | trastuzumab | SD | |
TMBIM1 | insertion | Frame_Shift_Ins | novel | c.803_804insTGTGGTGT | p.Thr269ValfsTer41 | p.T269Vfs*41 | Q969X1 | protein_coding | TCGA-AC-A3QQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
TMBIM1 | deletion | Frame_Shift_Del | novel | c.534delN | p.Met178IlefsTer18 | p.M178Ifs*18 | Q969X1 | protein_coding | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD | ||
TMBIM1 | SNV | Missense_Mutation | novel | c.260G>C | p.Gly87Ala | p.G87A | Q969X1 | protein_coding | tolerated(0.62) | benign(0.012) | TCGA-EA-A43B-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
TMBIM1 | SNV | Missense_Mutation | rs143173370 | c.929G>A | p.Arg310His | p.R310H | Q969X1 | protein_coding | tolerated(0.06) | benign(0.018) | TCGA-AA-3663-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
TMBIM1 | SNV | Missense_Mutation | novel | c.707T>C | p.Val236Ala | p.V236A | Q969X1 | protein_coding | deleterious(0.05) | benign(0.012) | TCGA-AA-A00N-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
TMBIM1 | SNV | Missense_Mutation | c.682A>G | p.Ile228Val | p.I228V | Q969X1 | protein_coding | tolerated(0.38) | benign(0.086) | TCGA-AD-5900-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
TMBIM1 | SNV | Missense_Mutation | novel | c.767N>C | p.Leu256Pro | p.L256P | Q969X1 | protein_coding | deleterious(0) | probably_damaging(0.969) | TCGA-D5-6928-01 | 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 |
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