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Gene: AFAP1L2 |
Gene summary for AFAP1L2 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | AFAP1L2 | Gene ID | 84632 |
| Gene name | actin filament associated protein 1 like 2 | |
| Gene Alias | CTB-1144G6.4 | |
| Cytomap | 10q25.3 | |
| Gene Type | protein-coding | GO ID | GO:0000278 | UniProtAcc | Q8N4X5 |
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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 |
| 84632 | AFAP1L2 | P4T-E | Human | Esophagus | ESCC | 1.17e-12 | 2.08e-01 | 0.1323 |
| 84632 | AFAP1L2 | P5T-E | Human | Esophagus | ESCC | 9.23e-33 | 6.05e-01 | 0.1327 |
| 84632 | AFAP1L2 | P8T-E | Human | Esophagus | ESCC | 9.44e-07 | 1.14e-01 | 0.0889 |
| 84632 | AFAP1L2 | P9T-E | Human | Esophagus | ESCC | 2.07e-05 | 1.28e-01 | 0.1131 |
| 84632 | AFAP1L2 | P10T-E | Human | Esophagus | ESCC | 1.51e-04 | 2.11e-02 | 0.116 |
| 84632 | AFAP1L2 | P11T-E | Human | Esophagus | ESCC | 8.35e-18 | 5.98e-01 | 0.1426 |
| 84632 | AFAP1L2 | P12T-E | Human | Esophagus | ESCC | 3.50e-02 | 3.07e-02 | 0.1122 |
| 84632 | AFAP1L2 | P16T-E | Human | Esophagus | ESCC | 4.11e-08 | 1.10e-01 | 0.1153 |
| 84632 | AFAP1L2 | P17T-E | Human | Esophagus | ESCC | 7.58e-09 | 4.88e-01 | 0.1278 |
| 84632 | AFAP1L2 | P19T-E | Human | Esophagus | ESCC | 1.98e-11 | 6.28e-01 | 0.1662 |
| 84632 | AFAP1L2 | P20T-E | Human | Esophagus | ESCC | 7.81e-07 | 1.51e-01 | 0.1124 |
| 84632 | AFAP1L2 | P21T-E | Human | Esophagus | ESCC | 9.35e-10 | 1.98e-01 | 0.1617 |
| 84632 | AFAP1L2 | P22T-E | Human | Esophagus | ESCC | 9.56e-08 | 1.40e-01 | 0.1236 |
| 84632 | AFAP1L2 | P23T-E | Human | Esophagus | ESCC | 2.36e-05 | 1.86e-01 | 0.108 |
| 84632 | AFAP1L2 | P24T-E | Human | Esophagus | ESCC | 1.53e-19 | 4.10e-01 | 0.1287 |
| 84632 | AFAP1L2 | P26T-E | Human | Esophagus | ESCC | 5.36e-05 | 6.38e-02 | 0.1276 |
| 84632 | AFAP1L2 | P27T-E | Human | Esophagus | ESCC | 8.56e-12 | 2.24e-01 | 0.1055 |
| 84632 | AFAP1L2 | P32T-E | Human | Esophagus | ESCC | 9.56e-08 | 1.94e-01 | 0.1666 |
| 84632 | AFAP1L2 | P36T-E | Human | Esophagus | ESCC | 4.97e-11 | 2.44e-01 | 0.1187 |
| 84632 | AFAP1L2 | P37T-E | Human | Esophagus | ESCC | 1.45e-19 | 4.08e-01 | 0.1371 |
| Page: 1 2 3 4 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma | ||
| 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:000734615 | Esophagus | ESCC | regulation of mitotic cell cycle | 293/8552 | 457/18723 | 8.00e-16 | 5.64e-14 | 293 |
| GO:003812718 | Esophagus | ESCC | ERBB signaling pathway | 82/8552 | 121/18723 | 7.23e-07 | 9.40e-06 | 82 |
| GO:000717318 | Esophagus | ESCC | epidermal growth factor receptor signaling pathway | 73/8552 | 108/18723 | 3.36e-06 | 3.73e-05 | 73 |
| GO:004586018 | Esophagus | ESCC | positive regulation of protein kinase activity | 219/8552 | 386/18723 | 6.91e-06 | 6.97e-05 | 219 |
| GO:003367420 | Esophagus | ESCC | positive regulation of kinase activity | 260/8552 | 467/18723 | 7.26e-06 | 7.22e-05 | 260 |
| GO:190118413 | Esophagus | ESCC | regulation of ERBB signaling pathway | 54/8552 | 79/18723 | 3.81e-05 | 3.08e-04 | 54 |
| GO:00420588 | Esophagus | ESCC | regulation of epidermal growth factor receptor signaling pathway | 50/8552 | 73/18723 | 6.75e-05 | 5.12e-04 | 50 |
| GO:00182124 | Esophagus | ESCC | peptidyl-tyrosine modification | 202/8552 | 378/18723 | 1.34e-03 | 6.39e-03 | 202 |
| GO:00181084 | Esophagus | ESCC | peptidyl-tyrosine phosphorylation | 200/8552 | 375/18723 | 1.60e-03 | 7.45e-03 | 200 |
| GO:00507303 | Esophagus | ESCC | regulation of peptidyl-tyrosine phosphorylation | 144/8552 | 264/18723 | 2.22e-03 | 9.78e-03 | 144 |
| GO:00610972 | Esophagus | ESCC | regulation of protein tyrosine kinase activity | 55/8552 | 90/18723 | 2.27e-03 | 9.99e-03 | 55 |
| GO:000181916 | Esophagus | ESCC | positive regulation of cytokine production | 244/8552 | 467/18723 | 2.29e-03 | 1.01e-02 | 244 |
| GO:00073469 | Oral cavity | OSCC | regulation of mitotic cell cycle | 266/7305 | 457/18723 | 3.87e-17 | 3.41e-15 | 266 |
| GO:003812715 | Oral cavity | OSCC | ERBB signaling pathway | 76/7305 | 121/18723 | 9.59e-08 | 1.66e-06 | 76 |
| GO:000717315 | Oral cavity | OSCC | epidermal growth factor receptor signaling pathway | 67/7305 | 108/18723 | 1.04e-06 | 1.40e-05 | 67 |
| GO:004586016 | Oral cavity | OSCC | positive regulation of protein kinase activity | 194/7305 | 386/18723 | 3.90e-06 | 4.59e-05 | 194 |
| GO:003367418 | Oral cavity | OSCC | positive regulation of kinase activity | 228/7305 | 467/18723 | 8.31e-06 | 8.90e-05 | 228 |
| GO:19011847 | Oral cavity | OSCC | regulation of ERBB signaling pathway | 50/7305 | 79/18723 | 1.06e-05 | 1.12e-04 | 50 |
| GO:00420587 | Oral cavity | OSCC | regulation of epidermal growth factor receptor signaling pathway | 46/7305 | 73/18723 | 2.80e-05 | 2.59e-04 | 46 |
| GO:00182123 | Oral cavity | OSCC | peptidyl-tyrosine modification | 180/7305 | 378/18723 | 3.63e-04 | 2.22e-03 | 180 |
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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 |
| 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 |
| AFAP1L2 | SNV | Missense_Mutation | c.1471N>A | p.Asp491Asn | p.D491N | Q8N4X5 | protein_coding | tolerated(0.2) | probably_damaging(1) | TCGA-AN-A0FX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| AFAP1L2 | insertion | In_Frame_Ins | novel | c.576_577insCCCTCTCCCATCACAACCACTTCA | p.Ala192_Lys193insProSerProIleThrThrThrSer | p.A192_K193insPSPITTTS | Q8N4X5 | protein_coding | TCGA-A2-A0D1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | taxotere | SD | ||
| AFAP1L2 | insertion | Nonsense_Mutation | novel | c.1682_1683insTTGAAAAGAAGAAGGAAGAAATCCGG | p.Leu562Ter | p.L562* | Q8N4X5 | protein_coding | TCGA-A8-A09C-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
| AFAP1L2 | deletion | Frame_Shift_Del | novel | c.545delT | p.Leu182ArgfsTer37 | p.L182Rfs*37 | Q8N4X5 | protein_coding | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD | ||
| AFAP1L2 | SNV | Missense_Mutation | c.1648N>T | p.Pro550Ser | p.P550S | Q8N4X5 | protein_coding | tolerated(0.5) | benign(0) | TCGA-EA-A3HQ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |
| AFAP1L2 | SNV | Missense_Mutation | rs367978439 | c.823N>A | p.Glu275Lys | p.E275K | Q8N4X5 | protein_coding | tolerated(0.1) | benign(0.033) | TCGA-VS-A8EH-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | cisplatin | CR |
| AFAP1L2 | SNV | Missense_Mutation | novel | c.875N>T | p.Cys292Phe | p.C292F | Q8N4X5 | protein_coding | deleterious(0.04) | benign(0.099) | TCGA-ZJ-AAX4-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |
| AFAP1L2 | SNV | Missense_Mutation | c.1127G>C | p.Arg376Thr | p.R376T | Q8N4X5 | protein_coding | deleterious(0) | benign(0.312) | TCGA-AA-3673-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| AFAP1L2 | SNV | Missense_Mutation | novel | c.2050N>T | p.Gly684Trp | p.G684W | Q8N4X5 | protein_coding | deleterious(0.01) | possibly_damaging(0.888) | TCGA-AA-3950-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| AFAP1L2 | SNV | Missense_Mutation | rs750411935 | c.2279C>G | p.Thr760Ser | p.T760S | Q8N4X5 | protein_coding | tolerated(0.44) | benign(0.063) | TCGA-AA-A01V-01 | Colorectum | colon adenocarcinoma | Male | <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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