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Gene: PRDM16 |
Gene summary for PRDM16 |
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Gene information | Species | Human | Gene symbol | PRDM16 | Gene ID | 63976 |
Gene name | PR/SET domain 16 | |
Gene Alias | CMD1LL | |
Cytomap | 1p36.32 | |
Gene Type | protein-coding | GO ID | GO:0000122 | UniProtAcc | Q9HAZ2 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
63976 | PRDM16 | RNA-P17T-P17T-2 | Human | Lung | IAC | 2.53e-04 | 5.65e-01 | 0.3371 |
63976 | PRDM16 | RNA-P17T-P17T-4 | Human | Lung | IAC | 1.83e-04 | 6.00e-01 | 0.343 |
63976 | PRDM16 | RNA-P17T-P17T-6 | Human | Lung | IAC | 5.18e-03 | 5.18e-01 | 0.3385 |
63976 | PRDM16 | RNA-P25T1-P25T1-1 | Human | Lung | AIS | 4.01e-05 | 3.44e-01 | -0.2116 |
63976 | PRDM16 | RNA-P25T1-P25T1-2 | Human | Lung | AIS | 3.10e-02 | 4.09e-01 | -0.1941 |
63976 | PRDM16 | RNA-P25T1-P25T1-4 | Human | Lung | AIS | 2.91e-02 | 2.32e-01 | -0.2119 |
63976 | PRDM16 | RNA-P6T2-P6T2-2 | Human | Lung | IAC | 3.40e-02 | 1.84e-01 | -0.0132 |
63976 | PRDM16 | RNA-P6T2-P6T2-3 | Human | Lung | IAC | 2.67e-04 | 2.10e-01 | -0.013 |
63976 | PRDM16 | RNA-P6T2-P6T2-4 | Human | Lung | IAC | 4.14e-02 | 1.93e-01 | -0.0121 |
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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:007156012 | Lung | AIS | cellular response to transforming growth factor beta stimulus | 48/1849 | 250/18723 | 5.13e-06 | 2.47e-04 | 48 |
GO:000717912 | Lung | AIS | transforming growth factor beta receptor signaling pathway | 39/1849 | 198/18723 | 2.08e-05 | 7.12e-04 | 39 |
GO:000632512 | Lung | AIS | chromatin organization | 62/1849 | 409/18723 | 4.24e-04 | 7.29e-03 | 62 |
GO:190384412 | Lung | AIS | regulation of cellular response to transforming growth factor beta stimulus | 25/1849 | 131/18723 | 9.61e-04 | 1.27e-02 | 25 |
GO:000717812 | Lung | AIS | transmembrane receptor protein serine/threonine kinase signaling pathway | 53/1849 | 355/18723 | 1.51e-03 | 1.82e-02 | 53 |
GO:001701512 | Lung | AIS | regulation of transforming growth factor beta receptor signaling pathway | 24/1849 | 128/18723 | 1.55e-03 | 1.82e-02 | 24 |
GO:003496811 | Lung | AIS | histone lysine methylation | 22/1849 | 115/18723 | 1.82e-03 | 2.05e-02 | 22 |
GO:004544411 | Lung | AIS | fat cell differentiation | 37/1849 | 229/18723 | 1.88e-03 | 2.08e-02 | 37 |
GO:00305121 | Lung | AIS | negative regulation of transforming growth factor beta receptor signaling pathway | 17/1849 | 81/18723 | 2.09e-03 | 2.28e-02 | 17 |
GO:001657111 | Lung | AIS | histone methylation | 25/1849 | 141/18723 | 2.78e-03 | 2.77e-02 | 25 |
GO:001802211 | Lung | AIS | peptidyl-lysine methylation | 23/1849 | 131/18723 | 4.54e-03 | 4.00e-02 | 23 |
GO:0090101 | Lung | AIS | negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway | 23/1849 | 131/18723 | 4.54e-03 | 4.00e-02 | 23 |
GO:000647911 | Lung | AIS | protein methylation | 29/1849 | 181/18723 | 6.16e-03 | 4.98e-02 | 29 |
GO:000821311 | Lung | AIS | protein alkylation | 29/1849 | 181/18723 | 6.16e-03 | 4.98e-02 | 29 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0471416 | Lung | IAC | Thermogenesis | 46/1053 | 232/8465 | 7.85e-04 | 6.38e-03 | 4.23e-03 | 46 |
hsa003109 | Lung | IAC | Lysine degradation | 17/1053 | 63/8465 | 1.35e-03 | 8.63e-03 | 5.73e-03 | 17 |
hsa0471417 | Lung | IAC | Thermogenesis | 46/1053 | 232/8465 | 7.85e-04 | 6.38e-03 | 4.23e-03 | 46 |
hsa0031012 | Lung | IAC | Lysine degradation | 17/1053 | 63/8465 | 1.35e-03 | 8.63e-03 | 5.73e-03 | 17 |
hsa0471423 | Lung | AIS | Thermogenesis | 43/961 | 232/8465 | 7.36e-04 | 6.28e-03 | 4.02e-03 | 43 |
hsa0031022 | Lung | AIS | Lysine degradation | 16/961 | 63/8465 | 1.41e-03 | 9.49e-03 | 6.07e-03 | 16 |
hsa0471433 | Lung | AIS | Thermogenesis | 43/961 | 232/8465 | 7.36e-04 | 6.28e-03 | 4.02e-03 | 43 |
hsa0031032 | Lung | AIS | Lysine degradation | 16/961 | 63/8465 | 1.41e-03 | 9.49e-03 | 6.07e-03 | 16 |
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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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∗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 |
PRDM16 | SNV | Missense_Mutation | rs768419281 | c.518G>A | p.Arg173His | p.R173H | Q9HAZ2 | protein_coding | deleterious(0) | probably_damaging(0.987) | TCGA-A2-A0EX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
PRDM16 | SNV | Missense_Mutation | rs747460948 | c.3487N>A | p.Ala1163Thr | p.A1163T | Q9HAZ2 | protein_coding | tolerated(0.7) | benign(0) | TCGA-A8-A09V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
PRDM16 | SNV | Missense_Mutation | c.581A>G | p.Tyr194Cys | p.Y194C | Q9HAZ2 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-B6-A0WZ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | PD | |
PRDM16 | SNV | Missense_Mutation | novel | c.1553T>A | p.Phe518Tyr | p.F518Y | Q9HAZ2 | protein_coding | tolerated(0.06) | probably_damaging(0.98) | TCGA-BH-A8FZ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PRDM16 | SNV | Missense_Mutation | rs376469401 | c.784N>A | p.Glu262Lys | p.E262K | Q9HAZ2 | protein_coding | tolerated(0.14) | benign(0.003) | TCGA-E9-A22E-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphane | SD |
PRDM16 | deletion | Frame_Shift_Del | novel | c.2779_2783delNNNNN | p.His927ProfsTer54 | p.H927Pfs*54 | Q9HAZ2 | protein_coding | TCGA-AO-A0JA-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | leuprolide | SD | ||
PRDM16 | deletion | Frame_Shift_Del | novel | c.1171delG | p.Val391Ter | p.V391* | Q9HAZ2 | protein_coding | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD | ||
PRDM16 | deletion | Frame_Shift_Del | novel | c.3168delC | p.Ser1057GlnfsTer9 | p.S1057Qfs*9 | Q9HAZ2 | protein_coding | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD | ||
PRDM16 | deletion | Frame_Shift_Del | novel | c.1672delC | p.Leu558TrpfsTer34 | p.L558Wfs*34 | Q9HAZ2 | protein_coding | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD | ||
PRDM16 | SNV | Missense_Mutation | novel | c.1519T>G | p.Phe507Val | p.F507V | Q9HAZ2 | protein_coding | tolerated(0.07) | benign(0.115) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
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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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