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Gene: DEF6 |
Gene summary for DEF6 |
Gene summary. |
Gene information | Species | Human | Gene symbol | DEF6 | Gene ID | 50619 |
Gene name | DEF6 guanine nucleotide exchange factor | |
Gene Alias | IBP | |
Cytomap | 6p21.31 | |
Gene Type | protein-coding | GO ID | GO:0007154 | UniProtAcc | Q9H4E7 |
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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 |
50619 | DEF6 | SYSMH6 | Human | Oral cavity | OSCC | 5.28e-06 | 1.03e-01 | 0.1275 |
50619 | DEF6 | P1_cSCC | Human | Skin | cSCC | 7.74e-17 | 5.44e-01 | 0.0292 |
50619 | DEF6 | P2_cSCC | Human | Skin | cSCC | 1.30e-09 | 3.58e-01 | -0.024 |
50619 | DEF6 | P4_cSCC | Human | Skin | cSCC | 1.60e-10 | 3.30e-01 | -0.00290000000000005 |
50619 | DEF6 | P10_cSCC | Human | Skin | cSCC | 3.39e-09 | 4.96e-01 | 0.1017 |
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Transcriptomic changes along malignancy continuum. |
∗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). |
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Enriched GO biological processes. |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:005105610 | Esophagus | ESCC | regulation of small GTPase mediated signal transduction | 157/8552 | 302/18723 | 1.55e-02 | 4.98e-02 | 157 |
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Enriched KEGG pathways. |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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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 |
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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. |
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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 |
DEF6 | SNV | Missense_Mutation | c.232N>C | p.Asp78His | p.D78H | Q9H4E7 | protein_coding | deleterious(0) | probably_damaging(0.97) | TCGA-A8-A08R-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
DEF6 | SNV | Missense_Mutation | novel | c.1453G>A | p.Glu485Lys | p.E485K | Q9H4E7 | protein_coding | tolerated(0.89) | benign(0.15) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DEF6 | SNV | Missense_Mutation | rs865793540 | c.1457N>A | p.Arg486Gln | p.R486Q | Q9H4E7 | protein_coding | tolerated(0.75) | benign(0) | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
DEF6 | deletion | Frame_Shift_Del | novel | c.213delN | p.Leu72SerfsTer26 | p.L72Sfs*26 | Q9H4E7 | protein_coding | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD | ||
DEF6 | deletion | Frame_Shift_Del | novel | c.745delN | p.Ser250ValfsTer34 | p.S250Vfs*34 | Q9H4E7 | protein_coding | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD | ||
DEF6 | SNV | Missense_Mutation | rs149842297 | c.359G>A | p.Arg120His | p.R120H | Q9H4E7 | protein_coding | tolerated(0.06) | benign(0.019) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
DEF6 | SNV | Missense_Mutation | novel | c.1555C>T | p.Arg519Trp | p.R519W | Q9H4E7 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
DEF6 | SNV | Missense_Mutation | novel | c.1249N>G | p.Lys417Glu | p.K417E | Q9H4E7 | protein_coding | deleterious(0.02) | probably_damaging(0.985) | TCGA-EA-A3HS-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
DEF6 | SNV | Missense_Mutation | c.1679N>A | p.Arg560His | p.R560H | Q9H4E7 | protein_coding | tolerated(0.09) | probably_damaging(0.98) | TCGA-EK-A2GZ-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unknown | Unknown | SD | |
DEF6 | SNV | Missense_Mutation | c.677N>A | p.Arg226Gln | p.R226Q | Q9H4E7 | protein_coding | deleterious(0) | benign(0.278) | TCGA-LP-A5U2-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | 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 |
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