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Gene: TOR1A |
Gene summary for TOR1A |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | TOR1A | Gene ID | 1861 |
| Gene name | torsin family 1 member A | |
| Gene Alias | AMC5 | |
| Cytomap | 9q34.11 | |
| Gene Type | protein-coding | GO ID | GO:0000338 | UniProtAcc | B3KPA1 |
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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 |
| 1861 | TOR1A | LZE2T | Human | Esophagus | ESCC | 9.61e-03 | 3.29e-01 | 0.082 |
| 1861 | TOR1A | LZE4T | Human | Esophagus | ESCC | 2.81e-15 | 3.12e-01 | 0.0811 |
| 1861 | TOR1A | LZE7T | Human | Esophagus | ESCC | 8.04e-06 | 4.20e-01 | 0.0667 |
| 1861 | TOR1A | LZE8T | Human | Esophagus | ESCC | 2.27e-07 | 1.79e-01 | 0.067 |
| 1861 | TOR1A | LZE20T | Human | Esophagus | ESCC | 3.25e-07 | 1.11e-01 | 0.0662 |
| 1861 | TOR1A | LZE22T | Human | Esophagus | ESCC | 1.12e-05 | 2.50e-01 | 0.068 |
| 1861 | TOR1A | LZE24T | Human | Esophagus | ESCC | 1.59e-14 | 2.99e-01 | 0.0596 |
| 1861 | TOR1A | LZE6T | Human | Esophagus | ESCC | 3.36e-06 | 5.17e-01 | 0.0845 |
| 1861 | TOR1A | P1T-E | Human | Esophagus | ESCC | 3.09e-05 | 1.55e-01 | 0.0875 |
| 1861 | TOR1A | P2T-E | Human | Esophagus | ESCC | 3.18e-23 | 4.97e-01 | 0.1177 |
| 1861 | TOR1A | P4T-E | Human | Esophagus | ESCC | 4.85e-26 | 5.04e-01 | 0.1323 |
| 1861 | TOR1A | P5T-E | Human | Esophagus | ESCC | 1.21e-12 | 3.18e-01 | 0.1327 |
| 1861 | TOR1A | P8T-E | Human | Esophagus | ESCC | 2.12e-34 | 8.09e-01 | 0.0889 |
| 1861 | TOR1A | P9T-E | Human | Esophagus | ESCC | 9.72e-09 | 2.23e-01 | 0.1131 |
| 1861 | TOR1A | P10T-E | Human | Esophagus | ESCC | 1.82e-24 | 4.21e-01 | 0.116 |
| 1861 | TOR1A | P11T-E | Human | Esophagus | ESCC | 7.25e-24 | 6.20e-01 | 0.1426 |
| 1861 | TOR1A | P12T-E | Human | Esophagus | ESCC | 4.59e-27 | 2.87e-01 | 0.1122 |
| 1861 | TOR1A | P15T-E | Human | Esophagus | ESCC | 7.72e-15 | 3.72e-01 | 0.1149 |
| 1861 | TOR1A | P16T-E | Human | Esophagus | ESCC | 7.78e-23 | 2.95e-01 | 0.1153 |
| 1861 | TOR1A | P17T-E | Human | Esophagus | ESCC | 1.93e-14 | 3.57e-01 | 0.1278 |
| Page: 1 2 3 4 5 6 |
| 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 | ||
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease | ||
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma | ||
| Skin |  | AK: Actinic keratosis |
| cSCC: Cutaneous squamous cell carcinoma | ||
| SCCIS:squamous cell carcinoma in situ | ||
| 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:0010498111 | Esophagus | ESCC | proteasomal protein catabolic process | 369/8552 | 490/18723 | 1.13e-41 | 1.80e-38 | 369 |
| GO:005165617 | Esophagus | ESCC | establishment of organelle localization | 273/8552 | 390/18723 | 9.13e-23 | 1.81e-20 | 273 |
| GO:0034976111 | Esophagus | ESCC | response to endoplasmic reticulum stress | 192/8552 | 256/18723 | 7.15e-22 | 1.30e-19 | 192 |
| GO:0006979111 | Esophagus | ESCC | response to oxidative stress | 303/8552 | 446/18723 | 7.15e-22 | 1.30e-19 | 303 |
| GO:003450418 | Esophagus | ESCC | protein localization to nucleus | 211/8552 | 290/18723 | 4.06e-21 | 6.60e-19 | 211 |
| GO:0006457110 | Esophagus | ESCC | protein folding | 163/8552 | 212/18723 | 1.13e-20 | 1.74e-18 | 163 |
| GO:0035966111 | Esophagus | ESCC | response to topologically incorrect protein | 125/8552 | 159/18723 | 1.44e-17 | 1.27e-15 | 125 |
| GO:0035967111 | Esophagus | ESCC | cellular response to topologically incorrect protein | 90/8552 | 116/18723 | 1.94e-12 | 8.11e-11 | 90 |
| GO:003650315 | Esophagus | ESCC | ERAD pathway | 82/8552 | 107/18723 | 5.80e-11 | 1.84e-09 | 82 |
| GO:005165016 | Esophagus | ESCC | establishment of vesicle localization | 114/8552 | 161/18723 | 8.20e-11 | 2.53e-09 | 114 |
| GO:0061077110 | Esophagus | ESCC | chaperone-mediated protein folding | 56/8552 | 67/18723 | 1.52e-10 | 4.36e-09 | 56 |
| GO:000699713 | Esophagus | ESCC | nucleus organization | 96/8552 | 133/18723 | 4.66e-10 | 1.21e-08 | 96 |
| GO:005164815 | Esophagus | ESCC | vesicle localization | 119/8552 | 177/18723 | 5.16e-09 | 1.08e-07 | 119 |
| GO:000702914 | Esophagus | ESCC | endoplasmic reticulum organization | 65/8552 | 87/18723 | 3.28e-08 | 6.08e-07 | 65 |
| GO:003010018 | Esophagus | ESCC | regulation of endocytosis | 135/8552 | 211/18723 | 5.75e-08 | 1.02e-06 | 135 |
| GO:000699811 | Esophagus | ESCC | nuclear envelope organization | 39/8552 | 47/18723 | 1.48e-07 | 2.35e-06 | 39 |
| GO:0006458110 | Esophagus | ESCC | 'de novo' protein folding | 36/8552 | 43/18723 | 2.90e-07 | 4.20e-06 | 36 |
| GO:004206027 | Esophagus | ESCC | wound healing | 243/8552 | 422/18723 | 4.62e-07 | 6.25e-06 | 243 |
| GO:007176312 | Esophagus | ESCC | nuclear membrane organization | 29/8552 | 33/18723 | 5.30e-07 | 7.04e-06 | 29 |
| GO:004580718 | Esophagus | ESCC | positive regulation of endocytosis | 69/8552 | 100/18723 | 1.97e-06 | 2.29e-05 | 69 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 |
| 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 |
| TOR1A | SNV | Missense_Mutation | rs755593280 | c.331N>A | p.Val111Ile | p.V111I | O14656 | protein_coding | tolerated(0.09) | benign(0.133) | TCGA-AC-A8OQ-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| TOR1A | SNV | Missense_Mutation | c.921N>A | p.Phe307Leu | p.F307L | O14656 | protein_coding | deleterious(0.04) | possibly_damaging(0.802) | TCGA-AR-A1AL-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | anastrozole | SD | |
| TOR1A | insertion | Frame_Shift_Ins | novel | c.627_628insCAAG | p.Gly210GlnfsTer29 | p.G210Qfs*29 | O14656 | protein_coding | TCGA-A8-A07P-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | 5-fluorouracil | SD | ||
| TOR1A | insertion | Nonsense_Mutation | novel | c.625_626insATCTCAGCTCACTGGAGTCTTGACTTCCTAGG | p.Ala209AspfsTer8 | p.A209Dfs*8 | O14656 | protein_coding | TCGA-A8-A07P-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | 5-fluorouracil | SD | ||
| TOR1A | insertion | Frame_Shift_Ins | novel | c.906_907insCTCCCAGCCCACTCATCGCA | p.Glu303LeufsTer9 | p.E303Lfs*9 | O14656 | protein_coding | TCGA-AN-A0FX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
| TOR1A | deletion | Frame_Shift_Del | novel | c.991delN | p.Asp331MetfsTer39 | p.D331Mfs*39 | O14656 | protein_coding | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD | ||
| TOR1A | SNV | Missense_Mutation | c.871G>C | p.Glu291Gln | p.E291Q | O14656 | protein_coding | tolerated(0.52) | benign(0.007) | TCGA-C5-A1BI-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | cisplatin | SD | |
| TOR1A | SNV | Missense_Mutation | rs775770765 | c.715N>A | p.Ala239Thr | p.A239T | O14656 | protein_coding | tolerated(0.39) | benign(0.017) | TCGA-C5-A8ZZ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unspecific | Cisplatin | SD |
| TOR1A | insertion | Frame_Shift_Ins | novel | c.781_782insCAAAA | p.Asn261ThrfsTer19 | p.N261Tfs*19 | O14656 | protein_coding | TCGA-DS-A1OA-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | carboplatin | PD | ||
| TOR1A | insertion | In_Frame_Ins | novel | c.779_780insATC | p.Arg260_Asn261insSer | p.R260_N261insS | O14656 | protein_coding | TCGA-DS-A1OA-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | carboplatin | PD |
| Page: 1 2 3 4 |
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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 |
| 1861 | TOR1A | TRANSPORTER | haloperidol | HALOPERIDOL | 27023437 |
| Page: 1 |
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