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Gene: UACA |
Gene summary for UACA |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | UACA | Gene ID | 55075 |
| Gene name | uveal autoantigen with coiled-coil domains and ankyrin repeats | |
| Gene Alias | NUCLING | |
| Cytomap | 15q23 | |
| Gene Type | protein-coding | GO ID | GO:0006508 | UniProtAcc | Q9BZF9 |
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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 |
| 55075 | UACA | GSM5353227_PA_PR5199-193K_Pool_1_2_3_S55_L002 | Human | Prostate | Tumor | 1.11e-08 | 5.94e-01 | 0.1602 |
| 55075 | UACA | GSM5353236_PA_PR5251_T1_S7_L001 | Human | Prostate | Tumor | 1.09e-09 | 7.89e-01 | 0.1608 |
| 55075 | UACA | GSM5353237_PA_PR5251_T2_S8_L001 | Human | Prostate | Tumor | 6.57e-06 | 7.37e-01 | 0.1622 |
| 55075 | UACA | GSM5353240_PA_PR5254_T1_S15_L001 | Human | Prostate | Tumor | 1.21e-07 | 4.46e-01 | 0.1575 |
| 55075 | UACA | GSM5353243_PA_PR5261_T1_S23_L002 | Human | Prostate | Tumor | 4.89e-02 | 2.87e-01 | 0.1545 |
| 55075 | UACA | GSM5353244_PA_PR5261_T2_S24_L002 | Human | Prostate | Tumor | 9.97e-04 | 3.73e-01 | 0.1569 |
| 55075 | UACA | GSM5353248_PA_PR5269_4_S28_L002 | Human | Prostate | Tumor | 1.50e-02 | 4.55e-01 | 0.1541 |
| 55075 | UACA | male-WTA | Human | Thyroid | PTC | 2.17e-59 | 9.07e-01 | 0.1037 |
| 55075 | UACA | female-WTA | Human | Thyroid | PTC | 7.96e-04 | 3.92e-01 | 0.0726 |
| 55075 | UACA | nodule-WTA | Human | Thyroid | goiters | 3.02e-08 | 4.00e-01 | 0.0534 |
| 55075 | UACA | PTC01 | Human | Thyroid | PTC | 5.45e-37 | 9.46e-01 | 0.1899 |
| 55075 | UACA | PTC03 | Human | Thyroid | PTC | 2.06e-18 | 1.16e+00 | 0.1784 |
| 55075 | UACA | PTC04 | Human | Thyroid | PTC | 1.57e-75 | 1.75e+00 | 0.1927 |
| 55075 | UACA | PTC05 | Human | Thyroid | PTC | 4.56e-58 | 2.79e+00 | 0.2065 |
| 55075 | UACA | PTC06 | Human | Thyroid | PTC | 4.94e-78 | 2.08e+00 | 0.2057 |
| 55075 | UACA | PTC07 | Human | Thyroid | PTC | 7.23e-116 | 2.30e+00 | 0.2044 |
| 55075 | UACA | ATC09 | Human | Thyroid | ATC | 1.13e-19 | 8.08e-01 | 0.2871 |
| 55075 | UACA | ATC11 | Human | Thyroid | ATC | 2.15e-11 | 1.25e+00 | 0.3386 |
| 55075 | UACA | ATC12 | Human | Thyroid | ATC | 7.71e-66 | 1.85e+00 | 0.34 |
| 55075 | UACA | ATC13 | Human | Thyroid | ATC | 1.15e-92 | 1.86e+00 | 0.34 |
| Page: 1 2 3 4 5 6 7 |
| 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 | ||
| Prostate |  | BPH: Benign Prostatic Hyperplasia |
| 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:0045862111 | Esophagus | ESCC | positive regulation of proteolysis | 256/8552 | 372/18723 | 7.88e-20 | 9.43e-18 | 256 |
| GO:2000116111 | Esophagus | ESCC | regulation of cysteine-type endopeptidase activity | 158/8552 | 235/18723 | 1.67e-11 | 5.90e-10 | 158 |
| GO:0043281111 | Esophagus | ESCC | regulation of cysteine-type endopeptidase activity involved in apoptotic process | 143/8552 | 209/18723 | 2.12e-11 | 7.31e-10 | 143 |
| GO:0010952111 | Esophagus | ESCC | positive regulation of peptidase activity | 133/8552 | 197/18723 | 4.31e-10 | 1.14e-08 | 133 |
| GO:0052547111 | Esophagus | ESCC | regulation of peptidase activity | 275/8552 | 461/18723 | 7.54e-10 | 1.88e-08 | 275 |
| GO:0052548111 | Esophagus | ESCC | regulation of endopeptidase activity | 253/8552 | 432/18723 | 3.68e-08 | 6.78e-07 | 253 |
| GO:0010950111 | Esophagus | ESCC | positive regulation of endopeptidase activity | 116/8552 | 179/18723 | 1.77e-07 | 2.79e-06 | 116 |
| GO:0043280110 | Esophagus | ESCC | positive regulation of cysteine-type endopeptidase activity involved in apoptotic process | 84/8552 | 129/18723 | 6.38e-06 | 6.55e-05 | 84 |
| GO:2001056110 | Esophagus | ESCC | positive regulation of cysteine-type endopeptidase activity | 94/8552 | 148/18723 | 8.87e-06 | 8.59e-05 | 94 |
| GO:00380615 | Esophagus | ESCC | NIK/NF-kappaB signaling | 81/8552 | 143/18723 | 5.33e-03 | 2.00e-02 | 81 |
| GO:00458627 | Liver | NAFLD | positive regulation of proteolysis | 65/1882 | 372/18723 | 6.58e-06 | 2.29e-04 | 65 |
| GO:00525477 | Liver | NAFLD | regulation of peptidase activity | 72/1882 | 461/18723 | 1.03e-04 | 2.03e-03 | 72 |
| GO:00525487 | Liver | NAFLD | regulation of endopeptidase activity | 67/1882 | 432/18723 | 2.17e-04 | 3.70e-03 | 67 |
| GO:004586222 | Liver | HCC | positive regulation of proteolysis | 232/7958 | 372/18723 | 5.66e-15 | 3.98e-13 | 232 |
| GO:004328112 | Liver | HCC | regulation of cysteine-type endopeptidase activity involved in apoptotic process | 125/7958 | 209/18723 | 3.12e-07 | 5.42e-06 | 125 |
| GO:200011612 | Liver | HCC | regulation of cysteine-type endopeptidase activity | 137/7958 | 235/18723 | 6.91e-07 | 1.08e-05 | 137 |
| GO:005254722 | Liver | HCC | regulation of peptidase activity | 247/7958 | 461/18723 | 8.28e-07 | 1.27e-05 | 247 |
| GO:005254822 | Liver | HCC | regulation of endopeptidase activity | 230/7958 | 432/18723 | 3.58e-06 | 4.68e-05 | 230 |
| GO:001095212 | Liver | HCC | positive regulation of peptidase activity | 110/7958 | 197/18723 | 1.04e-04 | 8.98e-04 | 110 |
| GO:001095012 | Liver | HCC | positive regulation of endopeptidase activity | 96/7958 | 179/18723 | 1.68e-03 | 8.79e-03 | 96 |
| Page: 1 2 3 4 5 6 |
| 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 |
| UACA | SNV | Missense_Mutation | c.1948T>A | p.Leu650Ile | p.L650I | Q9BZF9 | protein_coding | tolerated(0.18) | benign(0.017) | TCGA-A8-A09Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| UACA | SNV | Missense_Mutation | rs143107777 | c.2314N>G | p.Thr772Ala | p.T772A | Q9BZF9 | protein_coding | deleterious(0.03) | possibly_damaging(0.839) | TCGA-AC-A2QI-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | cytoxan | CR |
| UACA | SNV | Missense_Mutation | rs753763851 | c.2704G>T | p.Asp902Tyr | p.D902Y | Q9BZF9 | protein_coding | deleterious(0) | benign(0.219) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| UACA | SNV | Missense_Mutation | novel | c.2408T>G | p.Phe803Cys | p.F803C | Q9BZF9 | protein_coding | tolerated(0.08) | possibly_damaging(0.619) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| UACA | SNV | Missense_Mutation | c.2173G>A | p.Asp725Asn | p.D725N | Q9BZF9 | protein_coding | deleterious(0) | possibly_damaging(0.905) | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| UACA | SNV | Missense_Mutation | c.3154N>C | p.Glu1052Gln | p.E1052Q | Q9BZF9 | protein_coding | deleterious(0.01) | probably_damaging(0.998) | TCGA-AN-A0XW-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD | |
| UACA | SNV | Missense_Mutation | c.844N>T | p.Asp282Tyr | p.D282Y | Q9BZF9 | protein_coding | deleterious(0.02) | possibly_damaging(0.526) | TCGA-BH-A0B4-01 | Breast | breast invasive carcinoma | Male | >=65 | III/IV | Hormone Therapy | tamoxiphen | SD | |
| UACA | SNV | Missense_Mutation | c.4181N>T | p.Gly1394Val | p.G1394V | Q9BZF9 | protein_coding | deleterious(0) | possibly_damaging(0.875) | TCGA-BH-A0HX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adrimycin | SD | |
| UACA | SNV | Missense_Mutation | c.3480G>C | p.Lys1160Asn | p.K1160N | Q9BZF9 | protein_coding | deleterious(0) | possibly_damaging(0.776) | TCGA-C8-A26Y-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| UACA | SNV | Missense_Mutation | rs201992560 | c.3758A>C | p.Lys1253Thr | p.K1253T | Q9BZF9 | protein_coding | deleterious(0) | probably_damaging(0.962) | TCGA-E2-A14S-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cytoxan | SD |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 |
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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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