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Gene: DEFB1 |
Gene summary for DEFB1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | DEFB1 | Gene ID | 1672 |
| Gene name | defensin beta 1 | |
| Gene Alias | BD1 | |
| Cytomap | 8p23.1 | |
| Gene Type | protein-coding | GO ID | GO:0000003 | UniProtAcc | P60022 |
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Malignant transformation analysis |
| Identification of the aberrant gene expression in precancerous and cancerous lesions by comparing the gene expression of stem-like cells in diseased tissues with normal stem cells |
| Malignant transformation involving gene list. |
| Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
| 1672 | DEFB1 | LN46 | Human | Oral cavity | OSCC | 4.89e-04 | 4.66e-01 | 0.1666 |
| 1672 | DEFB1 | SYSMH1 | Human | Oral cavity | OSCC | 3.05e-04 | 4.16e-01 | 0.1127 |
| 1672 | DEFB1 | SYSMH2 | Human | Oral cavity | OSCC | 1.84e-06 | 3.51e-01 | 0.2326 |
| 1672 | DEFB1 | SYSMH3 | Human | Oral cavity | OSCC | 7.65e-15 | 4.14e-01 | 0.2442 |
| 1672 | DEFB1 | SYSMH4 | Human | Oral cavity | OSCC | 3.54e-26 | 6.46e-01 | 0.1226 |
| 1672 | DEFB1 | SYSMH6 | Human | Oral cavity | OSCC | 1.51e-77 | 4.11e+00 | 0.1275 |
| 1672 | DEFB1 | GSM5252126_BPH283PrGF_Via | Human | Prostate | BPH | 1.44e-02 | 5.92e-01 | -0.1771 |
| 1672 | DEFB1 | GSM5252127_BPH283PrSF_Via | Human | Prostate | BPH | 4.72e-02 | -1.21e-01 | -0.1453 |
| 1672 | DEFB1 | GSM5252128_BPH327PrGF_Via | Human | Prostate | BPH | 1.52e-03 | 4.21e-01 | -0.1688 |
| 1672 | DEFB1 | GSM5252129_BPH327PrSF_Via | Human | Prostate | BPH | 2.37e-03 | 5.90e-01 | -0.1697 |
| 1672 | DEFB1 | GSM5252130_BPH340PrGF_Via | Human | Prostate | BPH | 3.23e-04 | 1.03e+00 | -0.1972 |
| 1672 | DEFB1 | GSM5252131_BPH340PrSF_Via | Human | Prostate | BPH | 2.43e-08 | 3.93e-01 | -0.2126 |
| 1672 | DEFB1 | GSM5252132_BPH389PrGF | Human | Prostate | BPH | 1.30e-13 | -1.95e-01 | -0.2247 |
| 1672 | DEFB1 | GSM5252134_BPH511PrG_Fcol_3GEX | Human | Prostate | BPH | 9.26e-05 | 1.03e-02 | -0.1433 |
| 1672 | DEFB1 | GSM5252135_BPH511PrPUr_Fcol_3GEX | Human | Prostate | BPH | 5.16e-10 | -1.37e-01 | -0.1833 |
| 1672 | DEFB1 | GSM5252136_BPH556PrGA1_Fcol | Human | Prostate | BPH | 8.59e-14 | -1.25e-01 | -0.23 |
| 1672 | DEFB1 | GSM5252137_BPH556PrGA2_Fcol | Human | Prostate | BPH | 1.87e-09 | 6.29e-01 | -0.23 |
| 1672 | DEFB1 | 047563_1562-all-cells | Human | Prostate | BPH | 1.93e-32 | -8.67e-01 | 0.0791 |
| 1672 | DEFB1 | 048752_1579-all-cells | Human | Prostate | BPH | 3.16e-35 | -9.57e-01 | 0.1008 |
| 1672 | DEFB1 | 052095_1628-all-cells | Human | Prostate | BPH | 5.61e-29 | -8.50e-01 | 0.1032 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Cervix |  | CC: Cervix cancer |
| HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions | ||
| N_HPV: HPV-infected normal cervix | ||
| Endometrium |  | AEH: Atypical endometrial hyperplasia |
| EEC: Endometrioid Cancer | ||
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease | ||
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma | ||
| Prostate |  | BPH: Benign Prostatic Hyperplasia |
| Skin |  | AK: Actinic keratosis |
| cSCC: Cutaneous squamous cell carcinoma | ||
| SCCIS:squamous cell carcinoma in situ |
| ∗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 |
| Find out the enriched GO biological processes and KEGG pathways involved in transition from healthy to precancer to cancer |
| Figure of enriched GO biological processes. |
| 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). |
| Page: 1 2 3 4 5 6 7 8 9 |
| Enriched GO biological processes. |
| GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
| GO:00197308 | Cervix | CC | antimicrobial humoral response | 27/2311 | 122/18723 | 1.70e-03 | 1.29e-02 | 27 |
| GO:00618447 | Cervix | CC | antimicrobial humoral immune response mediated by antimicrobial peptide | 18/2311 | 79/18723 | 6.82e-03 | 3.74e-02 | 18 |
| GO:00069597 | Cervix | CC | humoral immune response | 54/2311 | 317/18723 | 8.57e-03 | 4.42e-02 | 54 |
| GO:000695912 | Cervix | HSIL_HPV | humoral immune response | 39/737 | 317/18723 | 2.88e-10 | 7.02e-08 | 39 |
| GO:001973012 | Cervix | HSIL_HPV | antimicrobial humoral response | 18/737 | 122/18723 | 1.35e-06 | 6.21e-05 | 18 |
| GO:00427423 | Cervix | HSIL_HPV | defense response to bacterium | 30/737 | 350/18723 | 5.82e-05 | 1.40e-03 | 30 |
| GO:006184412 | Cervix | HSIL_HPV | antimicrobial humoral immune response mediated by antimicrobial peptide | 11/737 | 79/18723 | 2.57e-04 | 4.44e-03 | 11 |
| GO:00197315 | Cervix | HSIL_HPV | antibacterial humoral response | 8/737 | 60/18723 | 2.32e-03 | 2.30e-02 | 8 |
| GO:000695921 | Cervix | N_HPV | humoral immune response | 31/534 | 317/18723 | 2.53e-09 | 7.88e-07 | 31 |
| GO:001973022 | Cervix | N_HPV | antimicrobial humoral response | 16/534 | 122/18723 | 3.88e-07 | 2.60e-05 | 16 |
| GO:004274211 | Cervix | N_HPV | defense response to bacterium | 28/534 | 350/18723 | 9.96e-07 | 5.53e-05 | 28 |
| GO:001973111 | Cervix | N_HPV | antibacterial humoral response | 8/534 | 60/18723 | 2.88e-04 | 4.50e-03 | 8 |
| GO:006184422 | Cervix | N_HPV | antimicrobial humoral immune response mediated by antimicrobial peptide | 9/534 | 79/18723 | 4.08e-04 | 5.77e-03 | 9 |
| GO:0002385 | Cervix | N_HPV | mucosal immune response | 5/534 | 38/18723 | 4.27e-03 | 3.26e-02 | 5 |
| GO:0002251 | Cervix | N_HPV | organ or tissue specific immune response | 5/534 | 41/18723 | 5.95e-03 | 4.16e-02 | 5 |
| GO:0002227 | Cervix | N_HPV | innate immune response in mucosa | 4/534 | 27/18723 | 6.82e-03 | 4.53e-02 | 4 |
| GO:00328864 | Esophagus | ESCC | regulation of microtubule-based process | 134/8552 | 240/18723 | 9.44e-04 | 4.80e-03 | 134 |
| GO:0032886 | Liver | HCC | regulation of microtubule-based process | 123/7958 | 240/18723 | 3.69e-03 | 1.64e-02 | 123 |
| GO:00197306 | Liver | Cyst | antimicrobial humoral response | 11/496 | 122/18723 | 4.02e-04 | 1.24e-02 | 11 |
| GO:00328863 | Oral cavity | OSCC | regulation of microtubule-based process | 115/7305 | 240/18723 | 2.95e-03 | 1.28e-02 | 115 |
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| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa051504 | Cervix | HSIL_HPV | Staphylococcus aureus infection | 21/459 | 96/8465 | 2.93e-08 | 1.43e-06 | 1.16e-06 | 21 |
| hsa0515011 | Cervix | HSIL_HPV | Staphylococcus aureus infection | 21/459 | 96/8465 | 2.93e-08 | 1.43e-06 | 1.16e-06 | 21 |
| hsa051502 | Cervix | N_HPV | Staphylococcus aureus infection | 15/349 | 96/8465 | 7.81e-06 | 1.01e-04 | 7.90e-05 | 15 |
| hsa051503 | Cervix | N_HPV | Staphylococcus aureus infection | 15/349 | 96/8465 | 7.81e-06 | 1.01e-04 | 7.90e-05 | 15 |
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Cell-cell communication analysis |
| Identification of potential cell-cell interactions between two cell types and their ligand-receptor pairs for different disease states |
| Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
| Page: 1 |
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Single-cell gene regulatory network inference analysis |
| Find out the significant the regulons (TFs) and the target genes of each regulon across cell types for different disease states |
| 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. |
| Page: 1 |
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Somatic mutation of malignant transformation related genes |
| Annotation of somatic variants for genes involved in malignant transformation |
| 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 |
| DEFB1 | SNV | Missense_Mutation | c.8N>A | p.Thr3Asn | p.T3N | P60022 | protein_coding | deleterious(0.05) | benign(0.202) | TCGA-D8-A147-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine | SD | |
| DEFB1 | SNV | Missense_Mutation | novel | c.166N>G | p.Gln56Glu | p.Q56E | P60022 | protein_coding | tolerated(1) | benign(0) | TCGA-EA-A3HU-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
| DEFB1 | SNV | Missense_Mutation | novel | c.100C>G | p.His34Asp | p.H34D | P60022 | protein_coding | tolerated(0.12) | benign(0.01) | TCGA-EA-A43B-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| DEFB1 | SNV | Missense_Mutation | novel | c.100C>A | p.His34Asn | p.H34N | P60022 | protein_coding | deleterious(0.04) | benign(0.017) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
| DEFB1 | SNV | Missense_Mutation | c.128N>G | p.Gln43Arg | p.Q43R | P60022 | protein_coding | tolerated(0.35) | benign(0.114) | TCGA-18-4721-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
| DEFB1 | SNV | Missense_Mutation | novel | c.203A>C | p.Lys68Thr | p.K68T | P60022 | protein_coding | deleterious_low_confidence(0.02) | benign(0.003) | TCGA-22-1016-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
| DEFB1 | SNV | Missense_Mutation | c.14A>G | p.Tyr5Cys | p.Y5C | P60022 | protein_coding | tolerated(0.18) | benign(0.003) | TCGA-CD-A4MG-01 | Stomach | stomach adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
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Related drugs of malignant transformation related genes |
| Identification of chemicals and drugs interact with genes involved in malignant transfromation |
| (DGIdb 4.0) |
| Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
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