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Gene: TGFB3 |
Gene summary for TGFB3 |
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Gene information | Species | Human | Gene symbol | TGFB3 | Gene ID | 7043 |
Gene name | transforming growth factor beta 3 | |
Gene Alias | ARVD | |
Cytomap | 14q24.3 | |
Gene Type | protein-coding | GO ID | GO:0000003 | UniProtAcc | P10600 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
7043 | TGFB3 | ATC12 | Human | Thyroid | ATC | 1.21e-24 | 5.39e-01 | 0.34 |
7043 | TGFB3 | ATC13 | Human | Thyroid | ATC | 3.62e-26 | 4.99e-01 | 0.34 |
7043 | TGFB3 | ATC4 | Human | Thyroid | ATC | 5.43e-25 | 6.55e-01 | 0.34 |
7043 | TGFB3 | ATC5 | Human | Thyroid | ATC | 1.84e-32 | 5.46e-01 | 0.34 |
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Tissue | Expression Dynamics | Abbreviation |
Thyroid | ![]() | ATC: Anaplastic thyroid cancer |
HT: Hashimoto's thyroiditis | ||
PTC: Papillary thyroid cancer |
∗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:00901001 | Thyroid | ATC | positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway | 51/6293 | 114/18723 | 8.62e-03 | 3.28e-02 | 51 |
GO:005070815 | Thyroid | ATC | regulation of protein secretion | 109/6293 | 268/18723 | 8.87e-03 | 3.36e-02 | 109 |
GO:01101492 | Thyroid | ATC | regulation of biomineralization | 45/6293 | 99/18723 | 9.34e-03 | 3.44e-02 | 45 |
GO:0051781 | Thyroid | ATC | positive regulation of cell division | 41/6293 | 89/18723 | 9.71e-03 | 3.56e-02 | 41 |
GO:00107121 | Thyroid | ATC | regulation of collagen metabolic process | 24/6293 | 47/18723 | 9.99e-03 | 3.64e-02 | 24 |
GO:00701672 | Thyroid | ATC | regulation of biomineral tissue development | 44/6293 | 97/18723 | 1.05e-02 | 3.81e-02 | 44 |
GO:00352722 | Thyroid | ATC | exocrine system development | 23/6293 | 45/18723 | 1.14e-02 | 4.06e-02 | 23 |
GO:00468491 | Thyroid | ATC | bone remodeling | 41/6293 | 90/18723 | 1.21e-02 | 4.30e-02 | 41 |
GO:0030500 | Thyroid | ATC | regulation of bone mineralization | 36/6293 | 78/18723 | 1.43e-02 | 4.92e-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 |
TGFB3 | TGFbR1_R2 | TGFB3_TGFBR1_TGFBR2 | TGFb | Breast | ADJ |
TGFB3 | TGFbR1_R2 | TGFB3_TGFBR1_TGFBR2 | TGFb | Breast | DCIS |
TGFB3 | ACVR1_TGFbR | TGFB3_ACVR1_TGFBR1 | TGFb | Breast | DCIS |
TGFB3 | TGFbR1_R2 | TGFB3_TGFBR1_TGFBR2 | TGFb | Esophagus | ESCC |
TGFB3 | ACVR1_TGFbR | TGFB3_ACVR1_TGFBR1 | TGFb | Esophagus | ESCC |
TGFB3 | TGFbR1_R2 | TGFB3_TGFBR1_TGFBR2 | TGFb | HNSCC | OSCC |
TGFB3 | ACVR1_TGFbR | TGFB3_ACVR1_TGFBR1 | TGFb | HNSCC | OSCC |
TGFB3 | TGFbR1_R2 | TGFB3_TGFBR1_TGFBR2 | TGFb | HNSCC | Precancer |
TGFB3 | ACVR1_TGFbR | TGFB3_ACVR1_TGFBR1 | TGFb | HNSCC | Precancer |
TGFB3 | TGFbR1_R2 | TGFB3_TGFBR1_TGFBR2 | TGFb | Lung | ADJ |
TGFB3 | TGFbR1_R2 | TGFB3_TGFBR1_TGFBR2 | TGFb | Lung | IAC |
TGFB3 | TGFbR1_R2 | TGFB3_TGFBR1_TGFBR2 | TGFb | Prostate | ADJ |
TGFB3 | TGFbR1_R2 | TGFB3_TGFBR1_TGFBR2 | TGFb | Prostate | BPH |
TGFB3 | TGFbR1_R2 | TGFB3_TGFBR1_TGFBR2 | TGFb | THCA | Cancer |
TGFB3 | ACVR1B_TGFbR2 | TGFB3_ACVR1B_TGFBR2 | TGFb | THCA | Cancer |
TGFB3 | ACVR1_TGFbR | TGFB3_ACVR1_TGFBR1 | TGFb | THCA | Cancer |
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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 |
TGFB3 | SNV | Missense_Mutation | novel | c.147N>A | p.Ser49Arg | p.S49R | P10600 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-5T-A9QA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxol | SD |
TGFB3 | SNV | Missense_Mutation | c.610G>A | p.Val204Ile | p.V204I | P10600 | protein_coding | tolerated(0.06) | possibly_damaging(0.615) | TCGA-B6-A0RE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
TGFB3 | insertion | Frame_Shift_Ins | novel | c.1193_1194insCCCTGTCCTAAAATCCTGGCTGGCG | p.Glu399ProfsTer20 | p.E399Pfs*20 | P10600 | protein_coding | TCGA-A2-A04V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | PD | ||
TGFB3 | insertion | Frame_Shift_Ins | novel | c.135_136insGGGTGCCC | p.Gln46GlyfsTer6 | p.Q46Gfs*6 | P10600 | protein_coding | TCGA-AN-A0FX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
TGFB3 | insertion | In_Frame_Ins | novel | c.134_135insGCCTAGTGCTGGCCACACAGC | p.Gly45_Gln46insProSerAlaGlyHisThrAla | p.G45_Q46insPSAGHTA | P10600 | protein_coding | TCGA-AN-A0FX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
TGFB3 | insertion | Nonsense_Mutation | novel | c.796_797insTCAGTTAGTTCCCTATGAAGG | p.Arg266delinsLeuSerTerPheProMetLysGly | p.R266delinsLS*FPMKG | P10600 | protein_coding | TCGA-BH-A0E2-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD | ||
TGFB3 | SNV | Missense_Mutation | novel | c.413C>T | p.Ser138Leu | p.S138L | P10600 | protein_coding | tolerated(0.12) | benign(0.152) | TCGA-C5-A1MP-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
TGFB3 | SNV | Missense_Mutation | rs868258653 | c.463N>T | p.Arg155Trp | p.R155W | P10600 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-EA-A3HS-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
TGFB3 | SNV | Missense_Mutation | rs368004396 | c.580C>T | p.Arg194Trp | p.R194W | P10600 | protein_coding | deleterious(0) | probably_damaging(0.948) | TCGA-A6-6653-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
TGFB3 | SNV | Missense_Mutation | novel | c.284N>G | p.Asn95Ser | p.N95S | P10600 | protein_coding | tolerated(0.85) | benign(0.023) | TCGA-AZ-4315-01 | 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 |
7043 | TGFB3 | TRANSCRIPTION FACTOR, DRUGGABLE GENOME, CELL SURFACE, GROWTH FACTOR | antibody | FRESOLIMUMAB | FRESOLIMUMAB | |
7043 | TGFB3 | TRANSCRIPTION FACTOR, DRUGGABLE GENOME, CELL SURFACE, GROWTH FACTOR | inhibitor | CHEMBL1743022 | FRESOLIMUMAB | |
7043 | TGFB3 | TRANSCRIPTION FACTOR, DRUGGABLE GENOME, CELL SURFACE, GROWTH FACTOR | Avotermin | AVOTERMIN |
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