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Gene: DEFA6 |
Gene summary for DEFA6 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | DEFA6 | Gene ID | 1671 |
| Gene name | defensin alpha 6 | |
| Gene Alias | DEF6 | |
| Cytomap | 8p23.1 | |
| Gene Type | protein-coding | GO ID | GO:0001906 | UniProtAcc | Q01524 |
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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 |
| 1671 | DEFA6 | HTA11_696_2000001011 | Human | Colorectum | AD | 3.19e-14 | 1.19e+00 | -0.1464 |
| 1671 | DEFA6 | HTA11_1391_2000001011 | Human | Colorectum | AD | 1.27e-06 | 1.04e+00 | -0.059 |
| 1671 | DEFA6 | HTA11_99999965062_69753 | Human | Colorectum | MSI-H | 3.42e-04 | 9.26e-01 | 0.3487 |
| 1671 | DEFA6 | HTA11_99999974143_84620 | Human | Colorectum | MSS | 5.40e-44 | 1.52e+00 | 0.3005 |
| 1671 | DEFA6 | A002-C-010 | Human | Colorectum | FAP | 4.47e-08 | 4.07e-01 | 0.242 |
| 1671 | DEFA6 | S014 | Human | Liver | HCC | 7.14e-29 | 5.46e+00 | 0.2254 |
| 1671 | DEFA6 | S015 | Human | Liver | HCC | 3.77e-10 | 4.91e+00 | 0.2375 |
| 1671 | DEFA6 | S016 | Human | Liver | HCC | 8.26e-35 | 6.50e+00 | 0.2243 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Colorectum (GSE201348) |  | FAP: Familial adenomatous polyposis |
| CRC: Colorectal cancer | ||
| Colorectum (HTA11) |  | AD: Adenomas |
| SER: Sessile serrated lesions | ||
| MSI-H: Microsatellite-high colorectal cancer | ||
| MSS: Microsatellite stable colorectal cancer | ||
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease |
| ∗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:0035821 | Colorectum | AD | modulation of process of other organism | 34/3918 | 106/18723 | 4.73e-03 | 3.22e-02 | 34 |
| GO:00358211 | Colorectum | MSS | modulation of process of other organism | 33/3467 | 106/18723 | 1.18e-03 | 1.14e-02 | 33 |
| GO:003582111 | Liver | HCC | modulation of process of other organism | 67/7958 | 106/18723 | 1.34e-05 | 1.48e-04 | 67 |
| GO:003249611 | Liver | HCC | response to lipopolysaccharide | 174/7958 | 343/18723 | 1.19e-03 | 6.62e-03 | 174 |
| GO:00712166 | Liver | HCC | cellular response to biotic stimulus | 128/7958 | 246/18723 | 1.53e-03 | 8.10e-03 | 128 |
| GO:00712226 | Liver | HCC | cellular response to lipopolysaccharide | 110/7958 | 209/18723 | 1.92e-03 | 9.77e-03 | 110 |
| GO:000223711 | Liver | HCC | response to molecule of bacterial origin | 181/7958 | 363/18723 | 2.58e-03 | 1.24e-02 | 181 |
| GO:00712196 | Liver | HCC | cellular response to molecule of bacterial origin | 113/7958 | 221/18723 | 5.73e-03 | 2.38e-02 | 113 |
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| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa05202 | Colorectum | FAP | Transcriptional misregulation in cancer | 45/1404 | 193/8465 | 9.19e-03 | 3.33e-02 | 2.03e-02 | 45 |
| hsa052021 | Colorectum | FAP | Transcriptional misregulation in cancer | 45/1404 | 193/8465 | 9.19e-03 | 3.33e-02 | 2.03e-02 | 45 |
| 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 |
| DEFA6 | SNV | Missense_Mutation | c.127N>T | p.Gly43Trp | p.G43W | Q01524 | protein_coding | deleterious(0.01) | probably_damaging(0.99) | TCGA-AA-3713-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | 5-fluorouracil | PR | |
| DEFA6 | SNV | Missense_Mutation | novel | c.26C>A | p.Ala9Asp | p.A9D | Q01524 | protein_coding | deleterious(0) | probably_damaging(0.979) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
| DEFA6 | SNV | Missense_Mutation | novel | c.10C>A | p.Leu4Ile | p.L4I | Q01524 | protein_coding | tolerated(0.12) | probably_damaging(0.996) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| DEFA6 | SNV | Missense_Mutation | novel | c.181N>A | p.Leu61Ile | p.L61I | Q01524 | protein_coding | tolerated(0.25) | benign(0.007) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD |
| DEFA6 | SNV | Missense_Mutation | novel | c.41N>T | p.Ala14Val | p.A14V | Q01524 | protein_coding | tolerated(0.06) | possibly_damaging(0.446) | TCGA-B5-A3FA-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| DEFA6 | SNV | Missense_Mutation | novel | c.206N>A | p.Ala69Asp | p.A69D | Q01524 | protein_coding | tolerated(0.49) | benign(0.003) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| DEFA6 | SNV | Missense_Mutation | c.82C>T | p.Pro28Ser | p.P28S | Q01524 | protein_coding | deleterious(0.05) | probably_damaging(0.999) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| DEFA6 | SNV | Missense_Mutation | novel | c.50N>T | p.Ala17Val | p.A17V | Q01524 | protein_coding | tolerated(0.08) | possibly_damaging(0.734) | TCGA-EY-A1GI-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| DEFA6 | SNV | Missense_Mutation | c.124N>T | p.Arg42Cys | p.R42C | Q01524 | protein_coding | tolerated(0.21) | possibly_damaging(0.905) | TCGA-EY-A549-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| DEFA6 | SNV | Missense_Mutation | c.287N>A | p.Arg96Lys | p.R96K | Q01524 | protein_coding | tolerated(1) | benign(0.191) | TCGA-FI-A2F4-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
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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 |
| Page: 1 |
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