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Gene: ATPAF2 |
Gene summary for ATPAF2 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | ATPAF2 | Gene ID | 91647 |
| Gene name | ATP synthase mitochondrial F1 complex assembly factor 2 | |
| Gene Alias | ATP12 | |
| Cytomap | 17p11.2 | |
| Gene Type | protein-coding | GO ID | GO:0006996 | UniProtAcc | Q8N5M1 |
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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 |
| 91647 | ATPAF2 | P24T-E | Human | Esophagus | ESCC | 2.11e-13 | 2.15e-01 | 0.1287 |
| 91647 | ATPAF2 | P26T-E | Human | Esophagus | ESCC | 3.40e-12 | 2.16e-01 | 0.1276 |
| 91647 | ATPAF2 | P27T-E | Human | Esophagus | ESCC | 8.20e-17 | 3.21e-01 | 0.1055 |
| 91647 | ATPAF2 | P28T-E | Human | Esophagus | ESCC | 4.36e-12 | 2.68e-01 | 0.1149 |
| 91647 | ATPAF2 | P30T-E | Human | Esophagus | ESCC | 2.97e-15 | 5.03e-01 | 0.137 |
| 91647 | ATPAF2 | P31T-E | Human | Esophagus | ESCC | 2.08e-14 | 2.56e-01 | 0.1251 |
| 91647 | ATPAF2 | P32T-E | Human | Esophagus | ESCC | 3.39e-33 | 6.69e-01 | 0.1666 |
| 91647 | ATPAF2 | P36T-E | Human | Esophagus | ESCC | 4.66e-11 | 2.59e-01 | 0.1187 |
| 91647 | ATPAF2 | P37T-E | Human | Esophagus | ESCC | 2.12e-11 | 2.28e-01 | 0.1371 |
| 91647 | ATPAF2 | P38T-E | Human | Esophagus | ESCC | 9.32e-14 | 4.12e-01 | 0.127 |
| 91647 | ATPAF2 | P39T-E | Human | Esophagus | ESCC | 4.94e-12 | 2.41e-01 | 0.0894 |
| 91647 | ATPAF2 | P40T-E | Human | Esophagus | ESCC | 1.07e-05 | 1.69e-01 | 0.109 |
| 91647 | ATPAF2 | P42T-E | Human | Esophagus | ESCC | 7.13e-10 | 2.65e-01 | 0.1175 |
| 91647 | ATPAF2 | P44T-E | Human | Esophagus | ESCC | 1.98e-05 | 1.66e-01 | 0.1096 |
| 91647 | ATPAF2 | P47T-E | Human | Esophagus | ESCC | 1.09e-04 | 1.34e-01 | 0.1067 |
| 91647 | ATPAF2 | P48T-E | Human | Esophagus | ESCC | 3.41e-14 | 1.73e-01 | 0.0959 |
| 91647 | ATPAF2 | P49T-E | Human | Esophagus | ESCC | 2.74e-04 | 5.74e-01 | 0.1768 |
| 91647 | ATPAF2 | P52T-E | Human | Esophagus | ESCC | 3.45e-15 | 3.26e-01 | 0.1555 |
| 91647 | ATPAF2 | P54T-E | Human | Esophagus | ESCC | 1.03e-04 | 8.50e-02 | 0.0975 |
| 91647 | ATPAF2 | P56T-E | Human | Esophagus | ESCC | 4.77e-02 | 3.08e-01 | 0.1613 |
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| 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 |
| ∗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:00700711 | Esophagus | ESCC | proton-transporting two-sector ATPase complex assembly | 12/8552 | 15/18723 | 7.31e-03 | 2.63e-02 | 12 |
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| 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 |
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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 |
| ATPAF2 | SNV | Missense_Mutation | rs761066670 | c.70N>C | p.Ser24Arg | p.S24R | Q8N5M1 | protein_coding | tolerated_low_confidence(0.37) | benign(0) | TCGA-OL-A66K-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| ATPAF2 | insertion | Frame_Shift_Ins | novel | c.326_327insATCACTGCACTCCAGCCTGGGCAACAGAGCGAGA | p.Thr110SerfsTer59 | p.T110Sfs*59 | Q8N5M1 | protein_coding | TCGA-AN-A04A-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD | ||
| ATPAF2 | SNV | Missense_Mutation | rs777247426 | c.442G>A | p.Glu148Lys | p.E148K | Q8N5M1 | protein_coding | tolerated(0.42) | benign(0.063) | TCGA-MU-A5YI-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD |
| ATPAF2 | SNV | Missense_Mutation | rs371136012 | c.241G>A | p.Val81Ile | p.V81I | Q8N5M1 | protein_coding | tolerated(0.06) | benign(0.195) | TCGA-F4-6856-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Ancillary | leucovorin | CR |
| ATPAF2 | SNV | Missense_Mutation | rs777247426 | c.442N>A | p.Glu148Lys | p.E148K | Q8N5M1 | protein_coding | tolerated(0.42) | benign(0.063) | TCGA-A5-A2K3-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Chemotherapy | carboplatin | SD |
| ATPAF2 | SNV | Missense_Mutation | novel | c.761C>T | p.Ala254Val | p.A254V | Q8N5M1 | protein_coding | tolerated(0.08) | benign(0.116) | TCGA-AX-A06F-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
| ATPAF2 | SNV | Missense_Mutation | rs766218490 | c.799N>A | p.Ala267Thr | p.A267T | Q8N5M1 | protein_coding | deleterious(0.01) | possibly_damaging(0.774) | TCGA-B5-A11E-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| ATPAF2 | SNV | Missense_Mutation | c.350N>G | p.Asp117Gly | p.D117G | Q8N5M1 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-B5-A11E-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| ATPAF2 | SNV | Missense_Mutation | rs761788938 | c.712N>T | p.Arg238Cys | p.R238C | Q8N5M1 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-D1-A168-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| ATPAF2 | SNV | Missense_Mutation | novel | c.377A>G | p.Gln126Arg | p.Q126R | Q8N5M1 | protein_coding | deleterious(0.05) | probably_damaging(0.992) | TCGA-D1-A175-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | 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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