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Gene: AIF1 |
Gene summary for AIF1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | AIF1 | Gene ID | 199 |
| Gene name | allograft inflammatory factor 1 | |
| Gene Alias | AIF-1 | |
| Cytomap | 6p21.33 | |
| Gene Type | protein-coding | GO ID | GO:0000082 | UniProtAcc | I3WTX1 |
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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 |
| 199 | AIF1 | NCCBC11 | Human | Breast | DCIS | 9.00e-08 | 7.92e-01 | 0.1232 |
| 199 | AIF1 | NCCBC14 | Human | Breast | DCIS | 2.44e-08 | 5.08e-01 | 0.2021 |
| 199 | AIF1 | NCCBC3 | Human | Breast | DCIS | 1.22e-39 | 1.05e+00 | 0.1198 |
| 199 | AIF1 | NCCBC5 | Human | Breast | DCIS | 6.97e-21 | 8.38e-01 | 0.2046 |
| 199 | AIF1 | N_HPV_1 | Human | Cervix | N_HPV | 4.36e-05 | 5.04e-01 | 0.0079 |
| 199 | AIF1 | N_HPV_2 | Human | Cervix | N_HPV | 5.56e-05 | 3.83e-01 | -0.0131 |
| 199 | AIF1 | CCI_1 | Human | Cervix | CC | 3.17e-04 | -6.97e-01 | 0.528 |
| 199 | AIF1 | CCI_2 | Human | Cervix | CC | 4.44e-02 | -6.75e-01 | 0.5249 |
| 199 | AIF1 | CCI_3 | Human | Cervix | CC | 2.19e-04 | -6.81e-01 | 0.516 |
| 199 | AIF1 | CCII_1 | Human | Cervix | CC | 3.08e-09 | -6.97e-01 | 0.3249 |
| 199 | AIF1 | Tumor | Human | Cervix | CC | 3.04e-18 | -6.91e-01 | 0.1241 |
| 199 | AIF1 | sample1 | Human | Cervix | CC | 6.37e-04 | -6.42e-01 | 0.0959 |
| 199 | AIF1 | sample3 | Human | Cervix | CC | 1.02e-18 | -6.89e-01 | 0.1387 |
| 199 | AIF1 | H2 | Human | Cervix | HSIL_HPV | 2.16e-10 | -6.25e-01 | 0.0632 |
| 199 | AIF1 | T1 | Human | Cervix | CC | 3.61e-09 | -6.13e-01 | 0.0918 |
| 199 | AIF1 | T3 | Human | Cervix | CC | 3.70e-17 | -6.88e-01 | 0.1389 |
| 199 | AIF1 | S43 | Human | Liver | Cirrhotic | 1.08e-07 | -3.58e-01 | -0.0187 |
| 199 | AIF1 | HCC1_Meng | Human | Liver | HCC | 6.75e-16 | -1.84e-01 | 0.0246 |
| 199 | AIF1 | HCC2_Meng | Human | Liver | HCC | 2.01e-06 | -3.50e-01 | 0.0107 |
| 199 | AIF1 | cirrhotic1 | Human | Liver | Cirrhotic | 9.65e-05 | -2.13e-01 | 0.0202 |
| Page: 1 2 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Breast |  | IDC: Invasive ductal carcinoma |
| DCIS: Ductal carcinoma in situ | ||
| Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers | ||
| Cervix |  | CC: Cervix cancer |
| HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions | ||
| N_HPV: HPV-infected normal cervix | ||
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease | ||
| 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:000268521 | Breast | DCIS | regulation of leukocyte migration | 32/1390 | 210/18723 | 7.94e-05 | 1.52e-03 | 32 |
| GO:003210321 | Breast | DCIS | positive regulation of response to external stimulus | 54/1390 | 427/18723 | 8.34e-05 | 1.58e-03 | 54 |
| GO:002240722 | Breast | DCIS | regulation of cell-cell adhesion | 56/1390 | 448/18723 | 8.53e-05 | 1.61e-03 | 56 |
| GO:005127111 | Breast | DCIS | negative regulation of cellular component movement | 48/1390 | 367/18723 | 8.97e-05 | 1.69e-03 | 48 |
| GO:002240921 | Breast | DCIS | positive regulation of cell-cell adhesion | 39/1390 | 284/18723 | 1.44e-04 | 2.45e-03 | 39 |
| GO:003166822 | Breast | DCIS | cellular response to extracellular stimulus | 35/1390 | 246/18723 | 1.54e-04 | 2.59e-03 | 35 |
| GO:200014611 | Breast | DCIS | negative regulation of cell motility | 46/1390 | 359/18723 | 2.01e-04 | 3.23e-03 | 46 |
| GO:005101724 | Breast | DCIS | actin filament bundle assembly | 25/1390 | 157/18723 | 2.31e-04 | 3.65e-03 | 25 |
| GO:007167721 | Breast | DCIS | positive regulation of mononuclear cell migration | 14/1390 | 65/18723 | 2.43e-04 | 3.78e-03 | 14 |
| GO:006157224 | Breast | DCIS | actin filament bundle organization | 25/1390 | 161/18723 | 3.43e-04 | 4.90e-03 | 25 |
| GO:005125814 | Breast | DCIS | protein polymerization | 39/1390 | 297/18723 | 3.64e-04 | 5.15e-03 | 39 |
| GO:004209821 | Breast | DCIS | T cell proliferation | 29/1390 | 199/18723 | 3.64e-04 | 5.15e-03 | 29 |
| GO:004212921 | Breast | DCIS | regulation of T cell proliferation | 26/1390 | 171/18723 | 3.69e-04 | 5.19e-03 | 26 |
| GO:003033611 | Breast | DCIS | negative regulation of cell migration | 43/1390 | 344/18723 | 5.41e-04 | 6.96e-03 | 43 |
| GO:007167421 | Breast | DCIS | mononuclear cell migration | 28/1390 | 196/18723 | 6.29e-04 | 7.90e-03 | 28 |
| GO:000268821 | Breast | DCIS | regulation of leukocyte chemotaxis | 20/1390 | 122/18723 | 6.42e-04 | 7.93e-03 | 20 |
| GO:004001311 | Breast | DCIS | negative regulation of locomotion | 47/1390 | 391/18723 | 7.30e-04 | 8.69e-03 | 47 |
| GO:007167521 | Breast | DCIS | regulation of mononuclear cell migration | 19/1390 | 115/18723 | 7.86e-04 | 9.11e-03 | 19 |
| GO:00900252 | Breast | DCIS | regulation of monocyte chemotaxis | 8/1390 | 29/18723 | 9.47e-04 | 1.07e-02 | 8 |
| GO:000268721 | Breast | DCIS | positive regulation of leukocyte migration | 21/1390 | 135/18723 | 9.64e-04 | 1.08e-02 | 21 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 |
| 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 |
| 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 |
| AIF1 | SNV | Missense_Mutation | novel | c.253N>C | p.Glu85Gln | p.E85Q | P55008 | protein_coding | deleterious(0.01) | probably_damaging(0.996) | TCGA-C5-A2M1-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
| AIF1 | deletion | Frame_Shift_Del | c.413delC | p.Pro138GlnfsTer36 | p.P138Qfs*36 | P55008 | protein_coding | TCGA-AM-5821-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |||
| AIF1 | SNV | Missense_Mutation | novel | c.4N>T | p.Ser2Cys | p.S2C | P55008 | protein_coding | deleterious_low_confidence(0.02) | possibly_damaging(0.757) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
| AIF1 | SNV | Missense_Mutation | novel | c.215N>T | p.Arg72Leu | p.R72L | P55008 | protein_coding | tolerated(0.15) | possibly_damaging(0.887) | TCGA-A5-A2K5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| AIF1 | SNV | Missense_Mutation | novel | c.261G>T | p.Lys87Asn | p.K87N | P55008 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AJ-A3EL-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| AIF1 | SNV | Missense_Mutation | novel | c.53N>T | p.Ala18Val | p.A18V | P55008 | protein_coding | tolerated(0.1) | benign(0.033) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
| AIF1 | SNV | Missense_Mutation | c.220N>A | p.Leu74Met | p.L74M | P55008 | protein_coding | tolerated(1) | benign(0.17) | TCGA-E6-A1LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| AIF1 | SNV | Missense_Mutation | novel | c.412C>A | p.Pro138Thr | p.P138T | P55008 | protein_coding | deleterious(0) | probably_damaging(0.916) | TCGA-78-8662-01 | Lung | lung adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
| AIF1 | SNV | Missense_Mutation | c.406N>T | p.Gly136Cys | p.G136C | P55008 | protein_coding | deleterious(0.02) | benign(0.029) | TCGA-BR-4280-01 | Stomach | stomach adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD | |
| AIF1 | SNV | Missense_Mutation | c.440N>T | p.Pro147Leu | p.P147L | P55008 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-BR-4362-01 | Stomach | stomach adenocarcinoma | 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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