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Gene: COL23A1 |
Gene summary for COL23A1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | COL23A1 | Gene ID | 91522 |
| Gene name | collagen type XXIII alpha 1 chain | |
| Gene Alias | COL23A1 | |
| Cytomap | 5q35.3 | |
| Gene Type | protein-coding | GO ID | GO:0008150 | UniProtAcc | Q86Y22 |
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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 |
| 91522 | COL23A1 | male-WTA | Human | Thyroid | PTC | 9.19e-03 | -2.41e-02 | 0.1037 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| 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). |
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| Enriched GO biological processes. |
| GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
| GO:00301986 | Thyroid | PTC | extracellular matrix organization | 124/5968 | 301/18723 | 3.75e-04 | 2.53e-03 | 124 |
| GO:00430626 | Thyroid | PTC | extracellular structure organization | 124/5968 | 302/18723 | 4.38e-04 | 2.92e-03 | 124 |
| GO:00452296 | Thyroid | PTC | external encapsulating structure organization | 124/5968 | 304/18723 | 5.96e-04 | 3.79e-03 | 124 |
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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 |
| 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 |
| COL23A1 | SNV | Missense_Mutation | rs754051834 | c.1610N>A | p.Cys537Tyr | p.C537Y | Q86Y22 | protein_coding | deleterious(0) | benign(0.011) | TCGA-A8-A06X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| COL23A1 | SNV | Missense_Mutation | rs201322641 | c.1484N>A | p.Arg495His | p.R495H | Q86Y22 | protein_coding | deleterious(0) | benign(0.258) | TCGA-A8-A06X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| COL23A1 | SNV | Missense_Mutation | c.475N>T | p.Pro159Ser | p.P159S | Q86Y22 | protein_coding | tolerated(0.1) | benign(0.436) | TCGA-BH-A0AW-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | SD | |
| COL23A1 | SNV | Missense_Mutation | rs780317369 | c.1385T>C | p.Ile462Thr | p.I462T | Q86Y22 | protein_coding | tolerated(0.17) | possibly_damaging(0.5) | TCGA-BH-A18U-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
| COL23A1 | SNV | Missense_Mutation | novel | c.353N>T | p.Cys118Phe | p.C118F | Q86Y22 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-BH-A1EN-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| COL23A1 | SNV | Missense_Mutation | c.1074N>C | p.Gln358His | p.Q358H | Q86Y22 | protein_coding | tolerated(0.11) | probably_damaging(0.949) | TCGA-C8-A26Y-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| COL23A1 | SNV | Missense_Mutation | c.1536G>C | p.Gln512His | p.Q512H | Q86Y22 | protein_coding | tolerated(0.06) | benign(0.05) | TCGA-E2-A159-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD | |
| COL23A1 | SNV | Missense_Mutation | novel | c.440C>A | p.Pro147Gln | p.P147Q | Q86Y22 | protein_coding | tolerated(0.05) | probably_damaging(0.999) | TCGA-E9-A1NC-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | CR |
| COL23A1 | SNV | Missense_Mutation | novel | c.1559G>A | p.Gly520Asp | p.G520D | Q86Y22 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| COL23A1 | SNV | Missense_Mutation | novel | c.958N>G | p.Lys320Glu | p.K320E | Q86Y22 | protein_coding | deleterious(0.02) | benign(0.213) | TCGA-A6-5665-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | 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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