![]() |
|||||
|
![]() | |
![]() | |
![]() | |
![]() | |
![]() | |
![]() | |
![]() |
Gene: DEF6 |
Gene summary for DEF6 |
![]() |
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 |
Top |
Malignant transformation analysis |
![]() |
![]() |
Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
50619 | DEF6 | LZE4T | Human | Esophagus | ESCC | 8.37e-09 | 2.79e-01 | 0.0811 |
50619 | DEF6 | LZE7T | Human | Esophagus | ESCC | 1.67e-04 | 3.11e-01 | 0.0667 |
50619 | DEF6 | LZE20T | Human | Esophagus | ESCC | 1.91e-04 | 2.66e-01 | 0.0662 |
50619 | DEF6 | LZE22D1 | Human | Esophagus | HGIN | 9.00e-04 | 1.63e-01 | 0.0595 |
50619 | DEF6 | LZE22T | Human | Esophagus | ESCC | 4.65e-02 | 3.06e-01 | 0.068 |
50619 | DEF6 | LZE24T | Human | Esophagus | ESCC | 3.29e-14 | 3.94e-01 | 0.0596 |
50619 | DEF6 | LZE21T | Human | Esophagus | ESCC | 2.86e-03 | 3.93e-01 | 0.0655 |
50619 | DEF6 | LZE6T | Human | Esophagus | ESCC | 1.65e-06 | 2.98e-01 | 0.0845 |
50619 | DEF6 | P1T-E | Human | Esophagus | ESCC | 1.52e-08 | 4.84e-01 | 0.0875 |
50619 | DEF6 | P2T-E | Human | Esophagus | ESCC | 7.67e-41 | 7.49e-01 | 0.1177 |
50619 | DEF6 | P4T-E | Human | Esophagus | ESCC | 6.58e-18 | 4.98e-01 | 0.1323 |
50619 | DEF6 | P5T-E | Human | Esophagus | ESCC | 1.30e-09 | 1.38e-01 | 0.1327 |
50619 | DEF6 | P8T-E | Human | Esophagus | ESCC | 1.53e-10 | 2.35e-01 | 0.0889 |
50619 | DEF6 | P9T-E | Human | Esophagus | ESCC | 2.48e-13 | 1.91e-01 | 0.1131 |
50619 | DEF6 | P10T-E | Human | Esophagus | ESCC | 6.24e-09 | 1.63e-01 | 0.116 |
50619 | DEF6 | P11T-E | Human | Esophagus | ESCC | 1.11e-07 | 4.22e-01 | 0.1426 |
50619 | DEF6 | P12T-E | Human | Esophagus | ESCC | 9.77e-18 | 4.44e-01 | 0.1122 |
50619 | DEF6 | P15T-E | Human | Esophagus | ESCC | 1.05e-17 | 3.73e-01 | 0.1149 |
50619 | DEF6 | P16T-E | Human | Esophagus | ESCC | 5.82e-20 | 4.06e-01 | 0.1153 |
50619 | DEF6 | P17T-E | Human | Esophagus | ESCC | 2.61e-02 | 2.28e-01 | 0.1278 |
Page: 1 2 3 4 5 |
![]() |
∗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. |
Top |
Malignant transformation related pathway analysis |
![]() |
![]() |
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 |
![]() |
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 |
Page: 1 |
![]() |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
Page: 1 |
Top |
Cell-cell communication analysis |
![]() |
Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
Page: 1 |
Top |
Single-cell gene regulatory network inference analysis |
![]() |
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 |
Top |
Somatic mutation of malignant transformation related genes |
![]() |
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 | novel | c.238G>A | p.Val80Met | p.V80M | Q9H4E7 | protein_coding | deleterious(0) | possibly_damaging(0.896) | TCGA-63-A5MP-01 | Lung | lung squamous cell carcinoma | Male | <65 | I/II | Chemotherapy | cisplatin | PD |
DEF6 | SNV | Missense_Mutation | novel | c.929C>T | p.Ala310Val | p.A310V | Q9H4E7 | protein_coding | tolerated(0.06) | benign(0.444) | TCGA-77-8156-01 | Lung | lung squamous cell carcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
DEF6 | SNV | Missense_Mutation | novel | c.899G>A | p.Arg300His | p.R300H | Q9H4E7 | protein_coding | deleterious(0) | probably_damaging(0.98) | TCGA-85-8071-01 | Lung | lung squamous cell carcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
DEF6 | SNV | Missense_Mutation | novel | c.707G>T | p.Arg236Leu | p.R236L | Q9H4E7 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-85-A4JC-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Chemotherapy | unknown | PD |
DEF6 | SNV | Missense_Mutation | rs543938116 | c.583C>T | p.Arg195Trp | p.R195W | Q9H4E7 | protein_coding | deleterious(0) | probably_damaging(0.928) | TCGA-O2-A52S-01 | Lung | lung squamous cell carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
DEF6 | SNV | Missense_Mutation | novel | c.530N>T | p.Gly177Val | p.G177V | Q9H4E7 | protein_coding | deleterious(0.04) | benign(0.001) | TCGA-CN-6995-01 | Oral cavity | head & neck squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
DEF6 | SNV | Missense_Mutation | c.848N>G | p.Val283Gly | p.V283G | Q9H4E7 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-KK-A59X-01 | Prostate | prostate adenocarcinoma | Male | <65 | 9 | Hormone Therapy | leuprolide | PD | |
DEF6 | SNV | Missense_Mutation | rs766125119 | c.584G>A | p.Arg195Gln | p.R195Q | Q9H4E7 | protein_coding | tolerated(0.06) | possibly_damaging(0.46) | TCGA-BR-6709-01 | Stomach | stomach adenocarcinoma | Female | <65 | III/IV | Chemotherapy | 5-fluorouracil | PD |
DEF6 | SNV | Missense_Mutation | rs149576757 | c.1682N>T | p.Pro561Leu | p.P561L | Q9H4E7 | protein_coding | tolerated(0.07) | benign(0.114) | TCGA-BR-8487-01 | Stomach | stomach adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DEF6 | SNV | Missense_Mutation | rs767334980 | c.1750C>T | p.Arg584Cys | p.R584C | Q9H4E7 | protein_coding | tolerated(0.06) | benign(0) | TCGA-D7-A6EY-01 | Stomach | stomach adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | PD |
Page: 1 2 3 4 5 6 7 |
Top |
Related drugs of malignant transformation related genes |
![]() |
(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
Page: 1 |