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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 | LZE7T | Human | Esophagus | ESCC | 7.61e-04 | 2.07e-01 | 0.0667 |
91647 | ATPAF2 | LZE24T | Human | Esophagus | ESCC | 6.10e-20 | 3.79e-01 | 0.0596 |
91647 | ATPAF2 | LZE21T | Human | Esophagus | ESCC | 3.40e-02 | 2.06e-01 | 0.0655 |
91647 | ATPAF2 | P1T-E | Human | Esophagus | ESCC | 2.90e-03 | 1.98e-01 | 0.0875 |
91647 | ATPAF2 | P2T-E | Human | Esophagus | ESCC | 3.17e-18 | 3.10e-01 | 0.1177 |
91647 | ATPAF2 | P4T-E | Human | Esophagus | ESCC | 2.50e-10 | 2.74e-01 | 0.1323 |
91647 | ATPAF2 | P5T-E | Human | Esophagus | ESCC | 2.62e-04 | 1.29e-01 | 0.1327 |
91647 | ATPAF2 | P8T-E | Human | Esophagus | ESCC | 1.73e-11 | 1.49e-01 | 0.0889 |
91647 | ATPAF2 | P9T-E | Human | Esophagus | ESCC | 1.40e-08 | 1.25e-01 | 0.1131 |
91647 | ATPAF2 | P10T-E | Human | Esophagus | ESCC | 3.02e-15 | 2.07e-01 | 0.116 |
91647 | ATPAF2 | P11T-E | Human | Esophagus | ESCC | 1.12e-06 | 2.56e-01 | 0.1426 |
91647 | ATPAF2 | P12T-E | Human | Esophagus | ESCC | 1.83e-17 | 3.28e-01 | 0.1122 |
91647 | ATPAF2 | P15T-E | Human | Esophagus | ESCC | 1.27e-14 | 2.44e-01 | 0.1149 |
91647 | ATPAF2 | P16T-E | Human | Esophagus | ESCC | 2.70e-19 | 3.97e-01 | 0.1153 |
91647 | ATPAF2 | P17T-E | Human | Esophagus | ESCC | 1.21e-07 | 2.60e-01 | 0.1278 |
91647 | ATPAF2 | P19T-E | Human | Esophagus | ESCC | 2.28e-04 | 4.94e-01 | 0.1662 |
91647 | ATPAF2 | P20T-E | Human | Esophagus | ESCC | 2.11e-11 | 2.20e-01 | 0.1124 |
91647 | ATPAF2 | P21T-E | Human | Esophagus | ESCC | 1.35e-24 | 4.05e-01 | 0.1617 |
91647 | ATPAF2 | P22T-E | Human | Esophagus | ESCC | 1.20e-16 | 3.26e-01 | 0.1236 |
91647 | ATPAF2 | P23T-E | Human | Esophagus | ESCC | 5.70e-16 | 2.73e-01 | 0.108 |
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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 |
Stomach | WIM | |
Stomach | SIM | |
Liver | NAFLD | |
Liver | Cirrhotic | |
Liver | HCC |
∗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: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 |
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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 |
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 |
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