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Gene: AARS2 |
Gene summary for AARS2 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | AARS2 | Gene ID | 57505 |
| Gene name | alanyl-tRNA synthetase 2, mitochondrial | |
| Gene Alias | AARSL | |
| Cytomap | 6p21.1 | |
| Gene Type | protein-coding | GO ID | GO:0000959 | UniProtAcc | Q5JTZ9 |
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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 |
| 57505 | AARS2 | HCC1_Meng | Human | Liver | HCC | 1.80e-05 | 8.28e-03 | 0.0246 |
| 57505 | AARS2 | HCC1 | Human | Liver | HCC | 1.30e-13 | 2.01e+00 | 0.5336 |
| 57505 | AARS2 | HCC2 | Human | Liver | HCC | 1.23e-27 | 2.56e+00 | 0.5341 |
| 57505 | AARS2 | HCC5 | Human | Liver | HCC | 8.80e-22 | 1.94e+00 | 0.4932 |
| 57505 | AARS2 | S015 | Human | Liver | HCC | 4.55e-04 | 2.61e-01 | 0.2375 |
| 57505 | AARS2 | S016 | Human | Liver | HCC | 4.54e-05 | 1.91e-01 | 0.2243 |
| 57505 | AARS2 | S028 | Human | Liver | HCC | 6.71e-03 | 1.51e-01 | 0.2503 |
| Page: 1 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease |
| ∗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:00344702 | Liver | HCC | ncRNA processing | 293/7958 | 395/18723 | 4.26e-38 | 6.76e-35 | 293 |
| GO:00346601 | Liver | HCC | ncRNA metabolic process | 332/7958 | 485/18723 | 1.48e-31 | 7.80e-29 | 332 |
| GO:01400531 | Liver | HCC | mitochondrial gene expression | 82/7958 | 108/18723 | 1.49e-12 | 7.20e-11 | 82 |
| GO:00325431 | Liver | HCC | mitochondrial translation | 62/7958 | 76/18723 | 2.95e-12 | 1.34e-10 | 62 |
| GO:0008033 | Liver | HCC | tRNA processing | 87/7958 | 127/18723 | 2.66e-09 | 7.23e-08 | 87 |
| GO:00065202 | Liver | HCC | cellular amino acid metabolic process | 167/7958 | 284/18723 | 1.91e-08 | 4.56e-07 | 167 |
| GO:0006399 | Liver | HCC | tRNA metabolic process | 108/7958 | 179/18723 | 1.07e-06 | 1.59e-05 | 108 |
| GO:0009451 | Liver | HCC | RNA modification | 101/7958 | 167/18723 | 2.02e-06 | 2.78e-05 | 101 |
| GO:0006400 | Liver | HCC | tRNA modification | 60/7958 | 90/18723 | 3.09e-06 | 4.09e-05 | 60 |
| GO:0000959 | Liver | HCC | mitochondrial RNA metabolic process | 30/7958 | 49/18723 | 6.31e-03 | 2.57e-02 | 30 |
| 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 |
| AARS2 | SNV | Missense_Mutation | c.1135N>C | p.Val379Leu | p.V379L | Q5JTZ9 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-A8-A09Q-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | anastrozole | SD | |
| AARS2 | SNV | Missense_Mutation | rs756151860 | c.596N>A | p.Arg199His | p.R199H | Q5JTZ9 | protein_coding | tolerated(0.79) | benign(0.066) | TCGA-AN-A0G0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| AARS2 | SNV | Missense_Mutation | rs762132107 | c.1063C>T | p.Arg355Cys | p.R355C | Q5JTZ9 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-BH-A0BG-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| AARS2 | SNV | Missense_Mutation | novel | c.442N>A | p.Ala148Thr | p.A148T | Q5JTZ9 | protein_coding | tolerated(0.06) | possibly_damaging(0.905) | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
| AARS2 | SNV | Missense_Mutation | rs587777592 | c.1213N>A | p.Glu405Lys | p.E405K | Q5JTZ9 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-D8-A1XL-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine+cyclophosphamide+tamoxifen | SD |
| AARS2 | insertion | Nonsense_Mutation | novel | c.2899_2900insTTTAAATTGGGCCCTGCTGGTTTGTTGATGAATT | p.Thr967IlefsTer2 | p.T967Ifs*2 | Q5JTZ9 | protein_coding | TCGA-B6-A0RE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
| AARS2 | deletion | Frame_Shift_Del | novel | c.1363_1381delNNNNNNNNNNNNNNNNNNN | p.Leu455GlyfsTer4 | p.L455Gfs*4 | Q5JTZ9 | protein_coding | TCGA-D8-A1JP-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD | ||
| AARS2 | SNV | Missense_Mutation | novel | c.1126G>A | p.Val376Ile | p.V376I | Q5JTZ9 | protein_coding | deleterious(0.01) | probably_damaging(0.998) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| AARS2 | SNV | Missense_Mutation | rs138828031 | c.2444N>T | p.Ala815Val | p.A815V | Q5JTZ9 | protein_coding | tolerated(0.45) | benign(0) | TCGA-EA-A3HS-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
| AARS2 | SNV | Missense_Mutation | c.2671N>C | p.Glu891Gln | p.E891Q | Q5JTZ9 | protein_coding | tolerated(0.35) | benign(0.005) | TCGA-UC-A7PG-06 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | cisplatin | PD |
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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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