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Gene: DIAPH3 |
Gene summary for DIAPH3 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | DIAPH3 | Gene ID | 81624 |
| Gene name | diaphanous related formin 3 | |
| Gene Alias | AN | |
| Cytomap | 13q21.2 | |
| Gene Type | protein-coding | GO ID | GO:0006996 | UniProtAcc | B4DPV3 |
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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 |
| 81624 | DIAPH3 | CCI_1 | Human | Cervix | CC | 8.02e-06 | 5.40e-01 | 0.528 |
| 81624 | DIAPH3 | CCI_2 | Human | Cervix | CC | 1.76e-10 | 6.61e-01 | 0.5249 |
| 81624 | DIAPH3 | CCI_3 | Human | Cervix | CC | 8.80e-12 | 7.97e-01 | 0.516 |
| 81624 | DIAPH3 | T1 | Human | Cervix | CC | 4.37e-02 | 1.54e-01 | 0.0918 |
| 81624 | DIAPH3 | P1_S1_AK | Human | Skin | AK | 4.56e-06 | 1.82e-01 | -0.3399 |
| 81624 | DIAPH3 | P5_S10_cSCC | Human | Skin | cSCC | 1.93e-11 | 2.49e-01 | -0.299 |
| 81624 | DIAPH3 | P1_cSCC | Human | Skin | cSCC | 5.02e-05 | 2.81e-01 | 0.0292 |
| 81624 | DIAPH3 | P2_cSCC | Human | Skin | cSCC | 2.83e-07 | 2.65e-01 | -0.024 |
| 81624 | DIAPH3 | P4_cSCC | Human | Skin | cSCC | 2.20e-21 | 4.46e-01 | -0.00290000000000005 |
| 81624 | DIAPH3 | P10_cSCC | Human | Skin | cSCC | 1.17e-14 | 4.70e-01 | 0.1017 |
| 81624 | DIAPH3 | ATC13 | Human | Thyroid | ATC | 1.15e-03 | 1.29e-01 | 0.34 |
| 81624 | DIAPH3 | ATC2 | Human | Thyroid | ATC | 4.17e-22 | 1.93e+00 | 0.34 |
| 81624 | DIAPH3 | ATC4 | Human | Thyroid | ATC | 4.51e-05 | 2.03e-01 | 0.34 |
| 81624 | DIAPH3 | ATC5 | Human | Thyroid | ATC | 2.66e-05 | 2.22e-01 | 0.34 |
| Page: 1 |
| 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 | ||
| Skin |  | AK: Actinic keratosis |
| cSCC: Cutaneous squamous cell carcinoma | ||
| SCCIS:squamous cell carcinoma in situ | ||
| 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 |
| 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:000701510 | Cervix | CC | actin filament organization | 109/2311 | 442/18723 | 4.92e-13 | 2.45e-10 | 109 |
| GO:005125810 | Cervix | CC | protein polymerization | 70/2311 | 297/18723 | 5.20e-08 | 3.11e-06 | 70 |
| GO:00081549 | Cervix | CC | actin polymerization or depolymerization | 51/2311 | 218/18723 | 4.05e-06 | 1.05e-04 | 51 |
| GO:00300419 | Cervix | CC | actin filament polymerization | 45/2311 | 191/18723 | 1.20e-05 | 2.54e-04 | 45 |
| GO:000701528 | Skin | AK | actin filament organization | 85/1910 | 442/18723 | 5.94e-09 | 4.14e-07 | 85 |
| GO:005125827 | Skin | AK | protein polymerization | 53/1910 | 297/18723 | 3.74e-05 | 6.20e-04 | 53 |
| GO:000815425 | Skin | AK | actin polymerization or depolymerization | 39/1910 | 218/18723 | 3.56e-04 | 3.54e-03 | 39 |
| GO:0051258112 | Skin | cSCC | protein polymerization | 114/4864 | 297/18723 | 1.55e-06 | 2.62e-05 | 114 |
| GO:000701529 | Skin | cSCC | actin filament organization | 156/4864 | 442/18723 | 7.37e-06 | 1.02e-04 | 156 |
| GO:0008154110 | Skin | cSCC | actin polymerization or depolymerization | 81/4864 | 218/18723 | 1.70e-04 | 1.47e-03 | 81 |
| GO:003004124 | Skin | cSCC | actin filament polymerization | 68/4864 | 191/18723 | 1.98e-03 | 1.18e-02 | 68 |
| GO:0007015210 | Thyroid | ATC | actin filament organization | 227/6293 | 442/18723 | 5.96e-15 | 3.85e-13 | 227 |
| GO:005125829 | Thyroid | ATC | protein polymerization | 159/6293 | 297/18723 | 9.33e-13 | 3.96e-11 | 159 |
| GO:0008154111 | Thyroid | ATC | actin polymerization or depolymerization | 119/6293 | 218/18723 | 1.32e-10 | 4.08e-09 | 119 |
| GO:0030041111 | Thyroid | ATC | actin filament polymerization | 101/6293 | 191/18723 | 2.91e-08 | 5.50e-07 | 101 |
| Page: 1 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa0481016 | Cervix | CC | Regulation of actin cytoskeleton | 64/1267 | 229/8465 | 2.24e-07 | 2.59e-06 | 1.53e-06 | 64 |
| hsa0481017 | Cervix | CC | Regulation of actin cytoskeleton | 64/1267 | 229/8465 | 2.24e-07 | 2.59e-06 | 1.53e-06 | 64 |
| Page: 1 |
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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 |
| DIAPH3 | SNV | Missense_Mutation | c.1876N>T | p.Pro626Ser | p.P626S | Q9NSV4 | protein_coding | tolerated(0.12) | probably_damaging(0.986) | TCGA-A7-A26H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | PD | |
| DIAPH3 | SNV | Missense_Mutation | rs765318944 | c.2482N>A | p.Glu828Lys | p.E828K | Q9NSV4 | protein_coding | deleterious(0) | possibly_damaging(0.763) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| DIAPH3 | SNV | Missense_Mutation | novel | c.3491G>C | p.Arg1164Thr | p.R1164T | Q9NSV4 | protein_coding | deleterious_low_confidence(0.01) | benign(0.244) | TCGA-BH-A0B6-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| DIAPH3 | SNV | Missense_Mutation | c.3365N>G | p.Asn1122Ser | p.N1122S | Q9NSV4 | protein_coding | tolerated_low_confidence(0.28) | benign(0.001) | TCGA-BH-A0BG-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| DIAPH3 | SNV | Missense_Mutation | c.3187N>A | p.Asp1063Asn | p.D1063N | Q9NSV4 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-D8-A1XZ-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | tamoxiphen+anastrozolum | SD | |
| DIAPH3 | SNV | Missense_Mutation | novel | c.437A>G | p.Lys146Arg | p.K146R | Q9NSV4 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-LL-A8F5-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
| DIAPH3 | insertion | Frame_Shift_Ins | novel | c.3497_3498insA | p.Glu1167GlyfsTer10 | p.E1167Gfs*10 | Q9NSV4 | protein_coding | TCGA-BH-A0E7-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD | ||
| DIAPH3 | SNV | Missense_Mutation | rs765346256 | c.3572N>A | p.Arg1191Gln | p.R1191Q | Q9NSV4 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.992) | TCGA-C5-A1BK-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
| DIAPH3 | SNV | Missense_Mutation | novel | c.2410C>G | p.Leu804Val | p.L804V | Q9NSV4 | protein_coding | deleterious(0.02) | probably_damaging(0.993) | TCGA-C5-A2LZ-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Unknown | Unknown | PD |
| DIAPH3 | SNV | Missense_Mutation | c.1718C>T | p.Ser573Leu | p.S573L | Q9NSV4 | protein_coding | tolerated(0.18) | benign(0) | TCGA-DR-A0ZL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 |
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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 |
| 81624 | DIAPH3 | KINASE | hydrochlorothiazide | HYDROCHLOROTHIAZIDE |
| Page: 1 |
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