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Gene: AQR |
Gene summary for AQR |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | AQR | Gene ID | 9716 |
| Gene name | aquarius intron-binding spliceosomal factor | |
| Gene Alias | IBP160 | |
| Cytomap | 15q14 | |
| Gene Type | protein-coding | GO ID | GO:0000375 | UniProtAcc | A0A024R9L1 |
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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 |
| 9716 | AQR | LZE4T | Human | Esophagus | ESCC | 6.86e-10 | 2.02e-01 | 0.0811 |
| 9716 | AQR | LZE8T | Human | Esophagus | ESCC | 5.46e-04 | 8.85e-02 | 0.067 |
| 9716 | AQR | LZE20T | Human | Esophagus | ESCC | 1.25e-02 | 6.34e-02 | 0.0662 |
| 9716 | AQR | LZE22D1 | Human | Esophagus | HGIN | 4.94e-02 | 1.22e-01 | 0.0595 |
| 9716 | AQR | LZE24T | Human | Esophagus | ESCC | 7.57e-05 | 4.23e-02 | 0.0596 |
| 9716 | AQR | P1T-E | Human | Esophagus | ESCC | 1.12e-04 | 2.35e-01 | 0.0875 |
| 9716 | AQR | P2T-E | Human | Esophagus | ESCC | 6.23e-21 | 1.59e-01 | 0.1177 |
| 9716 | AQR | P4T-E | Human | Esophagus | ESCC | 1.15e-18 | 3.81e-01 | 0.1323 |
| 9716 | AQR | P5T-E | Human | Esophagus | ESCC | 1.61e-15 | 1.46e-01 | 0.1327 |
| 9716 | AQR | P8T-E | Human | Esophagus | ESCC | 2.02e-27 | 3.52e-01 | 0.0889 |
| 9716 | AQR | P9T-E | Human | Esophagus | ESCC | 2.10e-11 | 1.81e-01 | 0.1131 |
| 9716 | AQR | P10T-E | Human | Esophagus | ESCC | 8.91e-29 | 4.48e-01 | 0.116 |
| 9716 | AQR | P12T-E | Human | Esophagus | ESCC | 1.37e-23 | 3.23e-01 | 0.1122 |
| 9716 | AQR | P15T-E | Human | Esophagus | ESCC | 6.69e-13 | 2.42e-01 | 0.1149 |
| 9716 | AQR | P16T-E | Human | Esophagus | ESCC | 5.39e-16 | 2.55e-01 | 0.1153 |
| 9716 | AQR | P17T-E | Human | Esophagus | ESCC | 1.00e-05 | 1.60e-01 | 0.1278 |
| 9716 | AQR | P20T-E | Human | Esophagus | ESCC | 1.75e-09 | 9.91e-02 | 0.1124 |
| 9716 | AQR | P21T-E | Human | Esophagus | ESCC | 4.35e-14 | 2.09e-01 | 0.1617 |
| 9716 | AQR | P22T-E | Human | Esophagus | ESCC | 2.30e-14 | 1.71e-01 | 0.1236 |
| 9716 | AQR | P23T-E | Human | Esophagus | ESCC | 8.59e-16 | 2.71e-01 | 0.108 |
| 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 | ||
| Skin |  | AK: Actinic keratosis |
| cSCC: Cutaneous squamous cell carcinoma | ||
| SCCIS:squamous cell carcinoma in situ |
| ∗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:0071383 | Colorectum | AD | cellular response to steroid hormone stimulus | 73/3918 | 204/18723 | 6.31e-07 | 2.24e-05 | 73 |
| GO:0043401 | Colorectum | AD | steroid hormone mediated signaling pathway | 51/3918 | 136/18723 | 6.52e-06 | 1.63e-04 | 51 |
| GO:0048545 | Colorectum | AD | response to steroid hormone | 104/3918 | 339/18723 | 1.33e-05 | 2.90e-04 | 104 |
| GO:0009755 | Colorectum | AD | hormone-mediated signaling pathway | 64/3918 | 190/18723 | 2.78e-05 | 5.24e-04 | 64 |
| GO:00713831 | Colorectum | SER | cellular response to steroid hormone stimulus | 55/2897 | 204/18723 | 1.66e-05 | 5.05e-04 | 55 |
| GO:00485451 | Colorectum | SER | response to steroid hormone | 80/2897 | 339/18723 | 5.15e-05 | 1.25e-03 | 80 |
| GO:00434011 | Colorectum | SER | steroid hormone mediated signaling pathway | 38/2897 | 136/18723 | 1.42e-04 | 2.82e-03 | 38 |
| GO:00097551 | Colorectum | SER | hormone-mediated signaling pathway | 49/2897 | 190/18723 | 1.54e-04 | 3.00e-03 | 49 |
| GO:00713832 | Colorectum | MSS | cellular response to steroid hormone stimulus | 72/3467 | 204/18723 | 8.87e-09 | 5.43e-07 | 72 |
| GO:00434012 | Colorectum | MSS | steroid hormone mediated signaling pathway | 51/3467 | 136/18723 | 1.43e-07 | 6.67e-06 | 51 |
| GO:00485452 | Colorectum | MSS | response to steroid hormone | 101/3467 | 339/18723 | 2.60e-07 | 1.10e-05 | 101 |
| GO:00097552 | Colorectum | MSS | hormone-mediated signaling pathway | 63/3467 | 190/18723 | 9.26e-07 | 3.23e-05 | 63 |
| GO:00485453 | Colorectum | MSI-H | response to steroid hormone | 40/1319 | 339/18723 | 9.37e-04 | 1.64e-02 | 40 |
| GO:00434013 | Colorectum | MSI-H | steroid hormone mediated signaling pathway | 19/1319 | 136/18723 | 3.19e-03 | 3.93e-02 | 19 |
| GO:00097553 | Colorectum | MSI-H | hormone-mediated signaling pathway | 24/1319 | 190/18723 | 3.88e-03 | 4.51e-02 | 24 |
| GO:000838026 | Esophagus | HGIN | RNA splicing | 160/2587 | 434/18723 | 3.74e-34 | 1.12e-30 | 160 |
| GO:000037520 | Esophagus | HGIN | RNA splicing, via transesterification reactions | 115/2587 | 324/18723 | 3.16e-23 | 3.80e-20 | 115 |
| GO:000037720 | Esophagus | HGIN | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 113/2587 | 320/18723 | 1.24e-22 | 9.26e-20 | 113 |
| GO:000039820 | Esophagus | HGIN | mRNA splicing, via spliceosome | 113/2587 | 320/18723 | 1.24e-22 | 9.26e-20 | 113 |
| GO:0008380111 | Esophagus | ESCC | RNA splicing | 336/8552 | 434/18723 | 1.74e-42 | 3.67e-39 | 336 |
| Page: 1 2 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa0304018 | Esophagus | HGIN | Spliceosome | 79/1383 | 217/8465 | 3.22e-13 | 7.00e-12 | 5.56e-12 | 79 |
| hsa0304019 | Esophagus | HGIN | Spliceosome | 79/1383 | 217/8465 | 3.22e-13 | 7.00e-12 | 5.56e-12 | 79 |
| hsa0304027 | Esophagus | ESCC | Spliceosome | 128/4205 | 217/8465 | 3.31e-03 | 8.79e-03 | 4.50e-03 | 128 |
| hsa0304037 | Esophagus | ESCC | Spliceosome | 128/4205 | 217/8465 | 3.31e-03 | 8.79e-03 | 4.50e-03 | 128 |
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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. |
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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 |
| AQR | SNV | Missense_Mutation | rs201358907 | c.1358N>T | p.Pro453Leu | p.P453L | O60306 | protein_coding | deleterious(0) | possibly_damaging(0.813) | TCGA-A2-A04N-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cytoxan | SD |
| AQR | SNV | Missense_Mutation | c.1507G>A | p.Val503Met | p.V503M | O60306 | protein_coding | tolerated(0.12) | benign(0.049) | TCGA-C8-A1HJ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| AQR | SNV | Missense_Mutation | c.97N>T | p.Pro33Ser | p.P33S | O60306 | protein_coding | tolerated(0.09) | benign(0.346) | TCGA-D8-A27G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| AQR | SNV | Missense_Mutation | c.3209T>C | p.Ile1070Thr | p.I1070T | O60306 | protein_coding | deleterious(0) | probably_damaging(0.96) | TCGA-E2-A14X-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD | |
| AQR | insertion | In_Frame_Ins | novel | c.3382_3383insAAATACATA | p.Val1128delinsGluIleHisIle | p.V1128delinsEIHI | O60306 | protein_coding | TCGA-A2-A0CP-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD | ||
| AQR | SNV | Missense_Mutation | novel | c.1819N>A | p.Val607Ile | p.V607I | O60306 | protein_coding | tolerated(0.12) | benign(0.288) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| AQR | SNV | Missense_Mutation | c.742C>A | p.His248Asn | p.H248N | O60306 | protein_coding | tolerated(0.51) | benign(0.012) | TCGA-C5-A3HE-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD | |
| AQR | SNV | Missense_Mutation | rs780179363 | c.2291C>T | p.Ala764Val | p.A764V | O60306 | protein_coding | tolerated(0.38) | benign(0) | TCGA-EA-A410-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
| AQR | SNV | Missense_Mutation | c.3425N>A | p.Ser1142Asn | p.S1142N | O60306 | protein_coding | deleterious(0.01) | benign(0.259) | TCGA-EA-A78R-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |
| AQR | SNV | Missense_Mutation | c.4408G>A | p.Glu1470Lys | p.E1470K | O60306 | protein_coding | tolerated_low_confidence(0.21) | benign(0) | TCGA-Q1-A73O-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 |
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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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