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Gene: PHEX |
Gene summary for PHEX |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | PHEX | Gene ID | 5251 |
| Gene name | phosphate regulating endopeptidase homolog X-linked | |
| Gene Alias | HPDR | |
| Cytomap | Xp22.11 | |
| Gene Type | protein-coding | GO ID | GO:0001501 | UniProtAcc | B4DWG8 |
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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 |
| 5251 | PHEX | PTC04 | Human | Thyroid | PTC | 3.11e-50 | 1.20e+00 | 0.1927 |
| 5251 | PHEX | PTC06 | Human | Thyroid | PTC | 1.15e-32 | 7.86e-01 | 0.2057 |
| 5251 | PHEX | PTC07 | Human | Thyroid | PTC | 1.52e-06 | 2.02e-01 | 0.2044 |
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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). |
| 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:0071496113 | Thyroid | PTC | cellular response to external stimulus | 158/5968 | 320/18723 | 4.12e-11 | 1.47e-09 | 158 |
| GO:0043434113 | Thyroid | PTC | response to peptide hormone | 188/5968 | 414/18723 | 4.13e-09 | 1.09e-07 | 188 |
| GO:0031668113 | Thyroid | PTC | cellular response to extracellular stimulus | 120/5968 | 246/18723 | 2.13e-08 | 4.91e-07 | 120 |
| GO:0031669112 | Thyroid | PTC | cellular response to nutrient levels | 106/5968 | 215/18723 | 6.96e-08 | 1.44e-06 | 106 |
| GO:0031667113 | Thyroid | PTC | response to nutrient levels | 201/5968 | 474/18723 | 7.00e-07 | 1.10e-05 | 201 |
| GO:0001503110 | Thyroid | PTC | ossification | 176/5968 | 408/18723 | 9.26e-07 | 1.40e-05 | 176 |
| GO:005160420 | Thyroid | PTC | protein maturation | 132/5968 | 294/18723 | 1.71e-06 | 2.39e-05 | 132 |
| GO:00603486 | Thyroid | PTC | bone development | 90/5968 | 205/18723 | 1.89e-04 | 1.42e-03 | 90 |
| GO:003032317 | Thyroid | PTC | respiratory tube development | 80/5968 | 181/18723 | 3.23e-04 | 2.23e-03 | 80 |
| GO:00164859 | Thyroid | PTC | protein processing | 95/5968 | 225/18723 | 6.60e-04 | 4.15e-03 | 95 |
| GO:003032419 | Thyroid | PTC | lung development | 77/5968 | 177/18723 | 7.33e-04 | 4.58e-03 | 77 |
| GO:006054115 | Thyroid | PTC | respiratory system development | 86/5968 | 203/18723 | 1.02e-03 | 6.08e-03 | 86 |
| GO:000758417 | Thyroid | PTC | response to nutrient | 71/5968 | 174/18723 | 7.82e-03 | 3.31e-02 | 71 |
| GO:00604161 | Thyroid | PTC | response to growth hormone | 19/5968 | 37/18723 | 1.07e-02 | 4.29e-02 | 19 |
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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. |
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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 |
| PHEX | SNV | Missense_Mutation | c.1727N>C | p.Val576Ala | p.V576A | P78562 | protein_coding | deleterious(0.01) | possibly_damaging(0.626) | TCGA-A2-A04P-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | taxol | PD | |
| PHEX | SNV | Missense_Mutation | c.1684G>A | p.Gly562Arg | p.G562R | P78562 | protein_coding | deleterious(0.03) | probably_damaging(0.997) | TCGA-A2-A0EN-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD | |
| PHEX | SNV | Missense_Mutation | novel | c.265N>G | p.Ile89Val | p.I89V | P78562 | protein_coding | deleterious(0.02) | benign(0.388) | TCGA-A2-A1FW-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cytoxan | SD |
| PHEX | SNV | Missense_Mutation | c.388G>A | p.Glu130Lys | p.E130K | P78562 | protein_coding | tolerated(0.54) | possibly_damaging(0.877) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| PHEX | SNV | Missense_Mutation | novel | c.265N>G | p.Ile89Val | p.I89V | P78562 | protein_coding | deleterious(0.02) | benign(0.388) | TCGA-B6-A1KF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| PHEX | SNV | Missense_Mutation | c.2032T>A | p.Phe678Ile | p.F678I | P78562 | protein_coding | deleterious(0.01) | benign(0.294) | TCGA-BH-A0E7-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD | |
| PHEX | SNV | Missense_Mutation | novel | c.265N>G | p.Ile89Val | p.I89V | P78562 | protein_coding | deleterious(0.02) | benign(0.388) | TCGA-C8-A12X-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| PHEX | SNV | Missense_Mutation | novel | c.290N>T | p.Asp97Val | p.D97V | P78562 | protein_coding | deleterious(0.02) | probably_damaging(0.951) | TCGA-S3-AA15-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | CR |
| PHEX | insertion | Frame_Shift_Ins | novel | c.326_327insATCTAAAAACAGAGGCTGGTATTTAGGGAGGACGCCTCCACCTC | p.His109GlnfsTer22 | p.H109Qfs*22 | P78562 | protein_coding | TCGA-B6-A0IE-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD | ||
| PHEX | SNV | Missense_Mutation | novel | c.892N>G | p.Asn298Asp | p.N298D | P78562 | protein_coding | deleterious(0.02) | possibly_damaging(0.828) | TCGA-2W-A8YY-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 |
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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 |
| 5251 | PHEX | ENZYME, PROTEASE, DRUGGABLE GENOME | RHGH | 9323282 | ||
| 5251 | PHEX | ENZYME, PROTEASE, DRUGGABLE GENOME | VITAMIN D | 15951631,12579406 | ||
| 5251 | PHEX | ENZYME, PROTEASE, DRUGGABLE GENOME | CALCITRIOL | CALCITRIOL | 9835432 | |
| 5251 | PHEX | ENZYME, PROTEASE, DRUGGABLE GENOME | RECOMBINANT HUMAN GROWTH HORMONE | 9323282 |
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