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Gene: AIM2 |
Gene summary for AIM2 |
Gene summary. |
Gene information | Species | Human | Gene symbol | AIM2 | Gene ID | 9447 |
Gene name | absent in melanoma 2 | |
Gene Alias | PYHIN4 | |
Cytomap | 1q23.1-q23.2 | |
Gene Type | protein-coding | GO ID | GO:0001816 | UniProtAcc | O14862 |
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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 |
9447 | AIM2 | CCI_2 | Human | Cervix | CC | 4.35e-09 | 7.12e-01 | 0.5249 |
9447 | AIM2 | CCI_3 | Human | Cervix | CC | 5.69e-03 | 3.17e-01 | 0.516 |
9447 | AIM2 | Tumor | Human | Cervix | CC | 5.01e-33 | 5.87e-01 | 0.1241 |
9447 | AIM2 | sample1 | Human | Cervix | CC | 3.87e-03 | 2.52e-01 | 0.0959 |
9447 | AIM2 | sample3 | Human | Cervix | CC | 1.51e-27 | 5.47e-01 | 0.1387 |
9447 | AIM2 | T1 | Human | Cervix | CC | 3.38e-05 | 2.35e-01 | 0.0918 |
9447 | AIM2 | T3 | Human | Cervix | CC | 2.57e-28 | 4.86e-01 | 0.1389 |
9447 | AIM2 | LZE8T | Human | Esophagus | ESCC | 4.02e-05 | 2.63e-01 | 0.067 |
9447 | AIM2 | LZE6T | Human | Esophagus | ESCC | 1.62e-02 | 1.53e-01 | 0.0845 |
9447 | AIM2 | P2T-E | Human | Esophagus | ESCC | 4.71e-04 | 5.50e-02 | 0.1177 |
9447 | AIM2 | P5T-E | Human | Esophagus | ESCC | 5.49e-16 | 3.43e-01 | 0.1327 |
9447 | AIM2 | P8T-E | Human | Esophagus | ESCC | 2.11e-07 | 1.81e-01 | 0.0889 |
9447 | AIM2 | P11T-E | Human | Esophagus | ESCC | 4.80e-15 | 6.93e-01 | 0.1426 |
9447 | AIM2 | P17T-E | Human | Esophagus | ESCC | 1.29e-08 | 7.23e-01 | 0.1278 |
9447 | AIM2 | P20T-E | Human | Esophagus | ESCC | 3.20e-07 | 5.15e-01 | 0.1124 |
9447 | AIM2 | P22T-E | Human | Esophagus | ESCC | 1.96e-02 | 7.37e-02 | 0.1236 |
9447 | AIM2 | P23T-E | Human | Esophagus | ESCC | 5.52e-07 | 1.90e-01 | 0.108 |
9447 | AIM2 | P24T-E | Human | Esophagus | ESCC | 3.97e-18 | 6.37e-01 | 0.1287 |
9447 | AIM2 | P31T-E | Human | Esophagus | ESCC | 1.07e-12 | 3.03e-01 | 0.1251 |
9447 | AIM2 | P32T-E | Human | Esophagus | ESCC | 4.29e-17 | 5.11e-01 | 0.1666 |
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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:005254710 | Cervix | CC | regulation of peptidase activity | 112/2311 | 461/18723 | 6.70e-13 | 3.08e-10 | 112 |
GO:004586210 | Cervix | CC | positive regulation of proteolysis | 95/2311 | 372/18723 | 1.84e-12 | 6.86e-10 | 95 |
GO:005254810 | Cervix | CC | regulation of endopeptidase activity | 103/2311 | 432/18723 | 1.89e-11 | 5.14e-09 | 103 |
GO:00321035 | Cervix | CC | positive regulation of response to external stimulus | 95/2311 | 427/18723 | 5.44e-09 | 5.03e-07 | 95 |
GO:001095210 | Cervix | CC | positive regulation of peptidase activity | 54/2311 | 197/18723 | 8.06e-09 | 6.99e-07 | 54 |
GO:200011610 | Cervix | CC | regulation of cysteine-type endopeptidase activity | 61/2311 | 235/18723 | 8.69e-09 | 7.22e-07 | 61 |
GO:001095010 | Cervix | CC | positive regulation of endopeptidase activity | 48/2311 | 179/18723 | 1.12e-07 | 5.71e-06 | 48 |
GO:00018197 | Cervix | CC | positive regulation of cytokine production | 95/2311 | 467/18723 | 4.88e-07 | 1.85e-05 | 95 |
GO:00510904 | Cervix | CC | regulation of DNA-binding transcription factor activity | 87/2311 | 440/18723 | 4.85e-06 | 1.22e-04 | 87 |
GO:20010569 | Cervix | CC | positive regulation of cysteine-type endopeptidase activity | 38/2311 | 148/18723 | 6.94e-06 | 1.65e-04 | 38 |
GO:00313494 | Cervix | CC | positive regulation of defense response | 60/2311 | 278/18723 | 9.38e-06 | 2.11e-04 | 60 |
GO:00346129 | Cervix | CC | response to tumor necrosis factor | 55/2311 | 253/18723 | 1.75e-05 | 3.32e-04 | 55 |
GO:00713569 | Cervix | CC | cellular response to tumor necrosis factor | 51/2311 | 229/18723 | 1.75e-05 | 3.32e-04 | 51 |
GO:00028315 | Cervix | CC | regulation of response to biotic stimulus | 67/2311 | 327/18723 | 1.79e-05 | 3.36e-04 | 67 |
GO:00096158 | Cervix | CC | response to virus | 73/2311 | 367/18723 | 2.22e-05 | 3.95e-04 | 73 |
GO:00022533 | Cervix | CC | activation of immune response | 72/2311 | 375/18723 | 8.26e-05 | 1.11e-03 | 72 |
GO:00192213 | Cervix | CC | cytokine-mediated signaling pathway | 84/2311 | 472/18723 | 3.25e-04 | 3.44e-03 | 84 |
GO:00022183 | Cervix | CC | activation of innate immune response | 16/2311 | 52/18723 | 3.61e-04 | 3.75e-03 | 16 |
GO:00510915 | Cervix | CC | positive regulation of DNA-binding transcription factor activity | 51/2311 | 260/18723 | 5.05e-04 | 4.92e-03 | 51 |
GO:00450882 | Cervix | CC | regulation of innate immune response | 44/2311 | 218/18723 | 6.40e-04 | 5.97e-03 | 44 |
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Enriched KEGG pathways. |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa046213 | Cervix | CC | NOD-like receptor signaling pathway | 41/1267 | 186/8465 | 5.90e-03 | 1.95e-02 | 1.15e-02 | 41 |
hsa0462112 | Cervix | CC | NOD-like receptor signaling pathway | 41/1267 | 186/8465 | 5.90e-03 | 1.95e-02 | 1.15e-02 | 41 |
hsa0462122 | Esophagus | ESCC | NOD-like receptor signaling pathway | 116/4205 | 186/8465 | 2.90e-04 | 1.03e-03 | 5.30e-04 | 116 |
hsa046234 | Esophagus | ESCC | Cytosolic DNA-sensing pathway | 49/4205 | 75/8465 | 4.35e-03 | 1.12e-02 | 5.74e-03 | 49 |
hsa0462132 | Esophagus | ESCC | NOD-like receptor signaling pathway | 116/4205 | 186/8465 | 2.90e-04 | 1.03e-03 | 5.30e-04 | 116 |
hsa0462311 | Esophagus | ESCC | Cytosolic DNA-sensing pathway | 49/4205 | 75/8465 | 4.35e-03 | 1.12e-02 | 5.74e-03 | 49 |
hsa04623 | Oral cavity | OSCC | Cytosolic DNA-sensing pathway | 44/3704 | 75/8465 | 6.44e-03 | 1.51e-02 | 7.68e-03 | 44 |
hsa046231 | Oral cavity | OSCC | Cytosolic DNA-sensing pathway | 44/3704 | 75/8465 | 6.44e-03 | 1.51e-02 | 7.68e-03 | 44 |
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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 |
AIM2 | SNV | Missense_Mutation | c.599A>C | p.Lys200Thr | p.K200T | O14862 | protein_coding | deleterious(0) | possibly_damaging(0.89) | TCGA-AP-A056-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
AIM2 | SNV | Missense_Mutation | c.525G>T | p.Glu175Asp | p.E175D | O14862 | protein_coding | tolerated(0.32) | possibly_damaging(0.538) | TCGA-AP-A056-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
AIM2 | SNV | Missense_Mutation | novel | c.650N>A | p.Gly217Asp | p.G217D | O14862 | protein_coding | tolerated(0.16) | benign(0.185) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
AIM2 | SNV | Missense_Mutation | novel | c.310N>A | p.Ala104Thr | p.A104T | O14862 | protein_coding | tolerated(0.58) | benign(0) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
AIM2 | SNV | Missense_Mutation | novel | c.60N>T | p.Glu20Asp | p.E20D | O14862 | protein_coding | tolerated(0.45) | benign(0.053) | TCGA-AP-A1E1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
AIM2 | SNV | Missense_Mutation | c.281N>T | p.Ser94Leu | p.S94L | O14862 | protein_coding | tolerated(0.24) | benign(0) | TCGA-AX-A05Z-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | SD | |
AIM2 | SNV | Missense_Mutation | novel | c.423N>T | p.Gln141His | p.Q141H | O14862 | protein_coding | tolerated(0.12) | benign(0.005) | TCGA-AX-A06F-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
AIM2 | SNV | Missense_Mutation | c.828N>T | p.Lys276Asn | p.K276N | O14862 | protein_coding | tolerated(0.82) | benign(0.172) | TCGA-AX-A0J0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
AIM2 | SNV | Missense_Mutation | novel | c.995N>A | p.Ser332Asn | p.S332N | O14862 | protein_coding | deleterious(0) | benign(0.411) | TCGA-AX-A0J1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
AIM2 | SNV | Missense_Mutation | novel | c.239N>A | p.Arg80His | p.R80H | O14862 | protein_coding | tolerated(0.12) | benign(0.011) | TCGA-AX-A0J1-01 | 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 |
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