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Gene: UAP1 |
Gene summary for UAP1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | UAP1 | Gene ID | 6675 |
| Gene name | UDP-N-acetylglucosamine pyrophosphorylase 1 | |
| Gene Alias | AGX | |
| Cytomap | 1q23.3 | |
| Gene Type | protein-coding | GO ID | GO:0006040 | UniProtAcc | A0A140VKC0 |
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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 |
| 6675 | UAP1 | AEH-subject1 | Human | Endometrium | AEH | 3.53e-23 | 6.23e-01 | -0.3059 |
| 6675 | UAP1 | AEH-subject2 | Human | Endometrium | AEH | 9.11e-09 | 4.19e-01 | -0.2525 |
| 6675 | UAP1 | AEH-subject3 | Human | Endometrium | AEH | 4.17e-10 | 3.51e-01 | -0.2576 |
| 6675 | UAP1 | EEC-subject1 | Human | Endometrium | EEC | 4.96e-03 | 2.28e-01 | -0.2682 |
| 6675 | UAP1 | EEC-subject2 | Human | Endometrium | EEC | 4.29e-02 | 1.84e-01 | -0.2607 |
| 6675 | UAP1 | EEC-subject3 | Human | Endometrium | EEC | 1.01e-09 | 2.60e-02 | -0.2525 |
| 6675 | UAP1 | EEC-subject4 | Human | Endometrium | EEC | 6.98e-03 | 1.73e-01 | -0.2571 |
| 6675 | UAP1 | GSM6177620_NYU_UCEC1_lib1_lib1 | Human | Endometrium | EEC | 1.74e-05 | -8.90e-02 | -0.1869 |
| 6675 | UAP1 | GSM6177620_NYU_UCEC1_lib2_lib2 | Human | Endometrium | EEC | 6.79e-12 | -4.23e-02 | -0.1875 |
| 6675 | UAP1 | GSM6177620_NYU_UCEC1_lib3_lib3 | Human | Endometrium | EEC | 3.68e-06 | -1.56e-01 | -0.1883 |
| 6675 | UAP1 | GSM6177621_NYU_UCEC2_lib1_lib1 | Human | Endometrium | EEC | 1.87e-08 | 1.07e-01 | -0.1934 |
| 6675 | UAP1 | GSM6177622_NYU_UCEC3_lib1_lib1 | Human | Endometrium | EEC | 5.85e-10 | -1.58e-01 | -0.1917 |
| 6675 | UAP1 | GSM6177622_NYU_UCEC3_lib2_lib2 | Human | Endometrium | EEC | 2.67e-11 | -1.04e-01 | -0.1916 |
| 6675 | UAP1 | LZE4T | Human | Esophagus | ESCC | 6.97e-14 | -3.81e-01 | 0.0811 |
| 6675 | UAP1 | LZE7T | Human | Esophagus | ESCC | 5.20e-04 | -2.97e-01 | 0.0667 |
| 6675 | UAP1 | LZE8T | Human | Esophagus | ESCC | 9.92e-06 | -5.43e-01 | 0.067 |
| 6675 | UAP1 | LZE20T | Human | Esophagus | ESCC | 5.49e-12 | -4.72e-01 | 0.0662 |
| 6675 | UAP1 | LZE22D1 | Human | Esophagus | HGIN | 1.86e-04 | -4.87e-01 | 0.0595 |
| 6675 | UAP1 | LZE24T | Human | Esophagus | ESCC | 3.49e-05 | 4.49e-02 | 0.0596 |
| 6675 | UAP1 | LZE21T | Human | Esophagus | ESCC | 1.05e-02 | -6.86e-02 | 0.0655 |
| Page: 1 2 3 4 5 6 7 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Endometrium |  | AEH: Atypical endometrial hyperplasia |
| EEC: Endometrioid Cancer | ||
| 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 |
| 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:00092256 | Esophagus | ESCC | nucleotide-sugar metabolic process | 29/8552 | 36/18723 | 1.91e-05 | 1.67e-04 | 29 |
| GO:00092262 | Esophagus | ESCC | nucleotide-sugar biosynthetic process | 14/8552 | 19/18723 | 1.27e-02 | 4.21e-02 | 14 |
| GO:00092254 | Liver | HCC | nucleotide-sugar metabolic process | 25/7958 | 36/18723 | 9.87e-04 | 5.71e-03 | 25 |
| GO:00092255 | Oral cavity | OSCC | nucleotide-sugar metabolic process | 26/7305 | 36/18723 | 5.44e-05 | 4.51e-04 | 26 |
| GO:00092261 | Oral cavity | OSCC | nucleotide-sugar biosynthetic process | 14/7305 | 19/18723 | 2.31e-03 | 1.02e-02 | 14 |
| GO:0006040 | Oral cavity | OSCC | amino sugar metabolic process | 24/7305 | 42/18723 | 1.30e-02 | 4.34e-02 | 24 |
| GO:0006047 | Oral cavity | OSCC | UDP-N-acetylglucosamine metabolic process | 10/7305 | 14/18723 | 1.44e-02 | 4.69e-02 | 10 |
| GO:0009226 | Prostate | Tumor | nucleotide-sugar biosynthetic process | 8/3246 | 19/18723 | 1.00e-02 | 4.20e-02 | 8 |
| GO:00092257 | Thyroid | PTC | nucleotide-sugar metabolic process | 23/5968 | 36/18723 | 7.78e-05 | 6.66e-04 | 23 |
| GO:00060472 | Thyroid | PTC | UDP-N-acetylglucosamine metabolic process | 9/5968 | 14/18723 | 1.27e-02 | 4.92e-02 | 9 |
| GO:000922511 | Thyroid | ATC | nucleotide-sugar metabolic process | 24/6293 | 36/18723 | 5.10e-05 | 3.99e-04 | 24 |
| GO:00060471 | Thyroid | ATC | UDP-N-acetylglucosamine metabolic process | 10/6293 | 14/18723 | 4.31e-03 | 1.80e-02 | 10 |
| GO:00092263 | Thyroid | ATC | nucleotide-sugar biosynthetic process | 12/6293 | 19/18723 | 7.97e-03 | 3.08e-02 | 12 |
| Page: 1 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa012505 | Esophagus | ESCC | Biosynthesis of nucleotide sugars | 28/4205 | 37/8465 | 1.10e-03 | 3.42e-03 | 1.75e-03 | 28 |
| hsa005202 | Esophagus | ESCC | Amino sugar and nucleotide sugar metabolism | 35/4205 | 49/8465 | 1.60e-03 | 4.88e-03 | 2.50e-03 | 35 |
| hsa0125012 | Esophagus | ESCC | Biosynthesis of nucleotide sugars | 28/4205 | 37/8465 | 1.10e-03 | 3.42e-03 | 1.75e-03 | 28 |
| hsa0052011 | Esophagus | ESCC | Amino sugar and nucleotide sugar metabolism | 35/4205 | 49/8465 | 1.60e-03 | 4.88e-03 | 2.50e-03 | 35 |
| hsa00520 | Oral cavity | OSCC | Amino sugar and nucleotide sugar metabolism | 34/3704 | 49/8465 | 2.48e-04 | 8.08e-04 | 4.11e-04 | 34 |
| hsa012504 | Oral cavity | OSCC | Biosynthesis of nucleotide sugars | 25/3704 | 37/8465 | 2.93e-03 | 7.49e-03 | 3.81e-03 | 25 |
| hsa005201 | Oral cavity | OSCC | Amino sugar and nucleotide sugar metabolism | 34/3704 | 49/8465 | 2.48e-04 | 8.08e-04 | 4.11e-04 | 34 |
| hsa0125011 | Oral cavity | OSCC | Biosynthesis of nucleotide sugars | 25/3704 | 37/8465 | 2.93e-03 | 7.49e-03 | 3.81e-03 | 25 |
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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 |
| UAP1 | SNV | Missense_Mutation | c.127G>A | p.Glu43Lys | p.E43K | Q16222 | protein_coding | tolerated(0.31) | benign(0.063) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
| UAP1 | SNV | Missense_Mutation | novel | c.996C>A | p.Phe332Leu | p.F332L | Q16222 | protein_coding | tolerated(0.05) | benign(0.12) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| UAP1 | insertion | Frame_Shift_Ins | novel | c.1229_1230insAATTTTCTTT | p.Asp410GlufsTer5 | p.D410Efs*5 | Q16222 | protein_coding | TCGA-A7-A26I-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cytoxan | SD | ||
| UAP1 | deletion | Frame_Shift_Del | novel | c.1231_1232delNN | p.Gln412GlufsTer31 | p.Q412Efs*31 | Q16222 | protein_coding | TCGA-A7-A26I-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cytoxan | SD | ||
| UAP1 | insertion | In_Frame_Ins | novel | c.723_724insAACTTTTTC | p.Gln241_Arg242insAsnPhePhe | p.Q241_R242insNFF | Q16222 | protein_coding | TCGA-B6-A0IE-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD | ||
| UAP1 | insertion | Frame_Shift_Ins | novel | c.725_726insATTC | p.Gly243PhefsTer12 | p.G243Ffs*12 | Q16222 | protein_coding | TCGA-B6-A0IE-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD | ||
| UAP1 | deletion | In_Frame_Del | novel | c.1319_1339delNNNNNNNNNNNNNNNNNNNNN | p.Phe440_Arg447delinsCys | p.F440_R447delinsC | Q16222 | protein_coding | TCGA-B6-A400-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD | ||
| UAP1 | SNV | Missense_Mutation | novel | c.1501A>G | p.Lys501Glu | p.K501E | Q16222 | protein_coding | deleterious(0.03) | benign(0.021) | TCGA-DG-A2KK-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
| UAP1 | SNV | Missense_Mutation | c.1449N>G | p.Ile483Met | p.I483M | Q16222 | protein_coding | deleterious(0) | probably_damaging(0.935) | TCGA-DR-A0ZM-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unspecific | Cisplatin | SD | |
| UAP1 | SNV | Missense_Mutation | c.1504G>A | p.Glu502Lys | p.E502K | Q16222 | protein_coding | tolerated(0.31) | benign(0) | TCGA-EK-A2PG-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |
| Page: 1 2 3 4 5 6 7 |
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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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