![]() |
|||||
|
![]() | |
![]() | |
![]() | |
![]() | |
![]() | |
![]() | |
![]() |
Gene: PHEX |
Gene summary for PHEX |
![]() |
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 |
Top |
Malignant transformation analysis |
![]() |
![]() |
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 |
Page: 1 |
![]() |
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. |
Top |
Malignant transformation related pathway analysis |
![]() |
![]() |
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 |
![]() |
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 |
Page: 1 |
![]() |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
Page: 1 |
Top |
Cell-cell communication analysis |
![]() |
Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
Page: 1 |
Top |
Single-cell gene regulatory network inference analysis |
![]() |
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 |
Top |
Somatic mutation of malignant transformation related genes |
![]() |
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 | novel | c.1574N>C | p.Val525Ala | p.V525A | P78562 | protein_coding | deleterious(0.05) | possibly_damaging(0.824) | TCGA-AX-A3G9-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
PHEX | SNV | Missense_Mutation | c.2149N>T | p.Val717Phe | p.V717F | P78562 | protein_coding | deleterious(0) | probably_damaging(0.925) | TCGA-AX-A3GB-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Chemotherapy | carboplatin | SD | |
PHEX | SNV | Missense_Mutation | c.1106N>T | p.Arg369Ile | p.R369I | P78562 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-B5-A0JY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD | |
PHEX | SNV | Missense_Mutation | c.1802N>A | p.Pro601His | p.P601H | P78562 | protein_coding | deleterious(0.01) | possibly_damaging(0.796) | TCGA-B5-A11E-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
PHEX | SNV | Missense_Mutation | c.1465N>G | p.Asn489Asp | p.N489D | P78562 | protein_coding | tolerated(0.78) | benign(0.025) | TCGA-B5-A11G-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
PHEX | SNV | Missense_Mutation | novel | c.103A>G | p.Thr35Ala | p.T35A | P78562 | protein_coding | tolerated(0.45) | benign(0.014) | TCGA-B5-A3FC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PHEX | SNV | Missense_Mutation | novel | c.434N>C | p.Glu145Ala | p.E145A | P78562 | protein_coding | deleterious(0) | possibly_damaging(0.696) | TCGA-BK-A6W3-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PHEX | SNV | Missense_Mutation | c.994N>T | p.Asp332Tyr | p.D332Y | P78562 | protein_coding | deleterious(0) | possibly_damaging(0.703) | TCGA-BK-A6W3-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
PHEX | SNV | Missense_Mutation | c.240N>A | p.Phe80Leu | p.F80L | P78562 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-BS-A0UF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
PHEX | SNV | Missense_Mutation | c.1045N>T | p.Asp349Tyr | p.D349Y | P78562 | protein_coding | deleterious(0.02) | probably_damaging(0.961) | TCGA-D1-A16X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 |
Top |
Related drugs of malignant transformation related genes |
![]() |
(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 |
Page: 1 |