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Gene: AFTPH |
Gene summary for AFTPH |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | AFTPH | Gene ID | 54812 |
| Gene name | aftiphilin | |
| Gene Alias | Nbla10388 | |
| Cytomap | 2p14 | |
| Gene Type | protein-coding | GO ID | GO:0006810 | UniProtAcc | Q6ULP2 |
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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 |
| 54812 | AFTPH | HTA11_3410_2000001011 | Human | Colorectum | AD | 3.45e-15 | -5.89e-01 | 0.0155 |
| 54812 | AFTPH | HTA11_2487_2000001011 | Human | Colorectum | SER | 8.99e-05 | -4.88e-01 | -0.1808 |
| 54812 | AFTPH | HTA11_2951_2000001011 | Human | Colorectum | AD | 8.24e-05 | -7.37e-01 | 0.0216 |
| 54812 | AFTPH | HTA11_1938_2000001011 | Human | Colorectum | AD | 1.86e-02 | -4.72e-01 | -0.0811 |
| 54812 | AFTPH | HTA11_3361_2000001011 | Human | Colorectum | AD | 2.24e-04 | -5.24e-01 | -0.1207 |
| 54812 | AFTPH | HTA11_696_2000001011 | Human | Colorectum | AD | 4.07e-10 | -4.72e-01 | -0.1464 |
| 54812 | AFTPH | HTA11_866_2000001011 | Human | Colorectum | AD | 3.13e-13 | -5.01e-01 | -0.1001 |
| 54812 | AFTPH | HTA11_546_2000001011 | Human | Colorectum | AD | 3.18e-02 | -4.92e-01 | -0.0842 |
| 54812 | AFTPH | HTA11_7862_2000001011 | Human | Colorectum | AD | 3.18e-03 | -6.15e-01 | -0.0179 |
| 54812 | AFTPH | HTA11_866_3004761011 | Human | Colorectum | AD | 6.29e-10 | -5.20e-01 | 0.096 |
| 54812 | AFTPH | HTA11_8622_2000001021 | Human | Colorectum | SER | 3.44e-03 | -6.43e-01 | 0.0528 |
| 54812 | AFTPH | HTA11_10711_2000001011 | Human | Colorectum | AD | 1.99e-07 | -5.54e-01 | 0.0338 |
| 54812 | AFTPH | HTA11_7696_3000711011 | Human | Colorectum | AD | 9.13e-15 | -4.82e-01 | 0.0674 |
| 54812 | AFTPH | HTA11_6818_2000001021 | Human | Colorectum | AD | 4.81e-05 | -5.67e-01 | 0.0588 |
| 54812 | AFTPH | HTA11_99999970781_79442 | Human | Colorectum | MSS | 3.57e-10 | -5.04e-01 | 0.294 |
| 54812 | AFTPH | HTA11_99999971662_82457 | Human | Colorectum | MSS | 1.23e-07 | -4.47e-01 | 0.3859 |
| 54812 | AFTPH | HTA11_99999973899_84307 | Human | Colorectum | MSS | 1.63e-03 | -5.67e-01 | 0.2585 |
| 54812 | AFTPH | HTA11_99999974143_84620 | Human | Colorectum | MSS | 1.32e-19 | -5.83e-01 | 0.3005 |
| 54812 | AFTPH | A015-C-203 | Human | Colorectum | FAP | 1.15e-24 | -3.91e-01 | -0.1294 |
| 54812 | AFTPH | A015-C-204 | Human | Colorectum | FAP | 8.68e-10 | -3.48e-01 | -0.0228 |
| Page: 1 2 3 4 5 6 7 8 |
| 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 | ||
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease | ||
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma | ||
| Prostate |  | BPH: Benign Prostatic Hyperplasia |
| ∗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 |
| Page: 1 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| 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 |
| AFTPH | SNV | Missense_Mutation | c.2787C>G | p.Ser929Arg | p.S929R | Q6ULP2 | protein_coding | tolerated(0.14) | benign(0.003) | TCGA-A2-A0EQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD | |
| AFTPH | SNV | Missense_Mutation | c.502N>G | p.Leu168Val | p.L168V | Q6ULP2 | protein_coding | tolerated(0.28) | benign(0.164) | TCGA-B6-A0IA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| AFTPH | SNV | Missense_Mutation | c.1476G>C | p.Glu492Asp | p.E492D | Q6ULP2 | protein_coding | tolerated(0.2) | probably_damaging(0.987) | TCGA-EW-A1J5-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD | |
| AFTPH | SNV | Missense_Mutation | rs763666920 | c.1283N>G | p.Asn428Ser | p.N428S | Q6ULP2 | protein_coding | tolerated(0.53) | benign(0.286) | TCGA-S3-AA10-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cytoxan | CR |
| AFTPH | insertion | Nonsense_Mutation | novel | c.2719_2720insGCTAATCATGTTGAGCATCTTTTCATGTGTTTATCGACTAT | p.Leu907ArgfsTer2 | p.L907Rfs*2 | Q6ULP2 | protein_coding | TCGA-A8-A07J-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR | ||
| AFTPH | deletion | Frame_Shift_Del | novel | c.1066delN | p.Glu356LysfsTer55 | p.E356Kfs*55 | Q6ULP2 | protein_coding | TCGA-V7-A7HQ-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | letrozole | CR | ||
| AFTPH | SNV | Missense_Mutation | novel | c.2699N>T | p.Ala900Val | p.A900V | Q6ULP2 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-EA-A410-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
| AFTPH | SNV | Missense_Mutation | c.1732G>A | p.Glu578Lys | p.E578K | Q6ULP2 | protein_coding | tolerated(0.07) | benign(0.26) | TCGA-EX-A1H6-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |
| AFTPH | SNV | Missense_Mutation | novel | c.952N>G | p.Pro318Ala | p.P318A | Q6ULP2 | protein_coding | tolerated(0.41) | benign(0.036) | TCGA-JW-A5VL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
| AFTPH | SNV | Missense_Mutation | rs765244594 | c.931N>G | p.Ser311Gly | p.S311G | Q6ULP2 | protein_coding | tolerated(0.09) | probably_damaging(0.943) | TCGA-5M-AAT6-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
| Page: 1 2 3 4 5 6 7 8 9 |
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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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