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Gene: PORCN |
Gene summary for PORCN |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | PORCN | Gene ID | 64840 |
| Gene name | porcupine O-acyltransferase | |
| Gene Alias | DHOF | |
| Cytomap | Xp11.23 | |
| Gene Type | protein-coding | GO ID | GO:0006464 | UniProtAcc | Q9H237 |
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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 |
| 64840 | PORCN | LZE4T | Human | Esophagus | ESCC | 2.52e-04 | 1.95e-01 | 0.0811 |
| 64840 | PORCN | LZE7T | Human | Esophagus | ESCC | 8.74e-04 | 2.66e-01 | 0.0667 |
| 64840 | PORCN | LZE20T | Human | Esophagus | ESCC | 4.71e-02 | 1.35e-01 | 0.0662 |
| 64840 | PORCN | LZE24T | Human | Esophagus | ESCC | 8.88e-05 | 1.67e-01 | 0.0596 |
| 64840 | PORCN | LZE6T | Human | Esophagus | ESCC | 1.10e-04 | 1.70e-01 | 0.0845 |
| 64840 | PORCN | P1T-E | Human | Esophagus | ESCC | 3.30e-04 | 9.38e-01 | 0.0875 |
| 64840 | PORCN | P2T-E | Human | Esophagus | ESCC | 2.79e-11 | 2.17e-01 | 0.1177 |
| 64840 | PORCN | P4T-E | Human | Esophagus | ESCC | 1.40e-09 | 2.11e-01 | 0.1323 |
| 64840 | PORCN | P5T-E | Human | Esophagus | ESCC | 6.56e-15 | 2.82e-01 | 0.1327 |
| 64840 | PORCN | P8T-E | Human | Esophagus | ESCC | 9.78e-30 | 4.85e-01 | 0.0889 |
| 64840 | PORCN | P9T-E | Human | Esophagus | ESCC | 1.28e-03 | 1.11e-01 | 0.1131 |
| 64840 | PORCN | P10T-E | Human | Esophagus | ESCC | 2.06e-08 | 1.92e-01 | 0.116 |
| 64840 | PORCN | P11T-E | Human | Esophagus | ESCC | 3.31e-12 | 6.34e-01 | 0.1426 |
| 64840 | PORCN | P12T-E | Human | Esophagus | ESCC | 9.53e-09 | 1.66e-01 | 0.1122 |
| 64840 | PORCN | P15T-E | Human | Esophagus | ESCC | 1.78e-12 | 3.08e-01 | 0.1149 |
| 64840 | PORCN | P16T-E | Human | Esophagus | ESCC | 3.60e-13 | 2.19e-01 | 0.1153 |
| 64840 | PORCN | P17T-E | Human | Esophagus | ESCC | 2.73e-03 | 1.73e-01 | 0.1278 |
| 64840 | PORCN | P20T-E | Human | Esophagus | ESCC | 1.76e-11 | 2.84e-01 | 0.1124 |
| 64840 | PORCN | P21T-E | Human | Esophagus | ESCC | 5.95e-29 | 6.22e-01 | 0.1617 |
| 64840 | PORCN | P22T-E | Human | Esophagus | ESCC | 1.25e-26 | 4.17e-01 | 0.1236 |
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| 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 | ||
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma |
| ∗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:004354313 | Esophagus | ESCC | protein acylation | 165/8552 | 243/18723 | 1.69e-12 | 7.14e-11 | 165 |
| GO:001605517 | Esophagus | ESCC | Wnt signaling pathway | 268/8552 | 444/18723 | 2.32e-10 | 6.58e-09 | 268 |
| GO:019873817 | Esophagus | ESCC | cell-cell signaling by wnt | 269/8552 | 446/18723 | 2.41e-10 | 6.79e-09 | 269 |
| GO:00091002 | Esophagus | ESCC | glycoprotein metabolic process | 226/8552 | 387/18723 | 2.64e-07 | 3.94e-06 | 226 |
| GO:006007016 | Esophagus | ESCC | canonical Wnt signaling pathway | 180/8552 | 303/18723 | 9.15e-07 | 1.17e-05 | 180 |
| GO:00421573 | Esophagus | ESCC | lipoprotein metabolic process | 86/8552 | 135/18723 | 1.78e-05 | 1.57e-04 | 86 |
| GO:00064973 | Esophagus | ESCC | protein lipidation | 62/8552 | 92/18723 | 2.08e-05 | 1.80e-04 | 62 |
| GO:00421583 | Esophagus | ESCC | lipoprotein biosynthetic process | 64/8552 | 96/18723 | 2.61e-05 | 2.20e-04 | 64 |
| GO:000930617 | Esophagus | ESCC | protein secretion | 190/8552 | 359/18723 | 3.22e-03 | 1.34e-02 | 190 |
| GO:003559217 | Esophagus | ESCC | establishment of protein localization to extracellular region | 190/8552 | 360/18723 | 3.77e-03 | 1.53e-02 | 190 |
| GO:00302586 | Esophagus | ESCC | lipid modification | 116/8552 | 212/18723 | 4.90e-03 | 1.89e-02 | 116 |
| GO:007169210 | Esophagus | ESCC | protein localization to extracellular region | 193/8552 | 368/18723 | 5.01e-03 | 1.92e-02 | 193 |
| GO:00435434 | Oral cavity | OSCC | protein acylation | 149/7305 | 243/18723 | 1.33e-12 | 5.80e-11 | 149 |
| GO:001605510 | Oral cavity | OSCC | Wnt signaling pathway | 227/7305 | 444/18723 | 1.10e-07 | 1.87e-06 | 227 |
| GO:019873810 | Oral cavity | OSCC | cell-cell signaling by wnt | 227/7305 | 446/18723 | 1.75e-07 | 2.86e-06 | 227 |
| GO:00421572 | Oral cavity | OSCC | lipoprotein metabolic process | 77/7305 | 135/18723 | 1.61e-05 | 1.60e-04 | 77 |
| GO:00064972 | Oral cavity | OSCC | protein lipidation | 56/7305 | 92/18723 | 1.77e-05 | 1.72e-04 | 56 |
| GO:00421582 | Oral cavity | OSCC | lipoprotein biosynthetic process | 57/7305 | 96/18723 | 4.17e-05 | 3.61e-04 | 57 |
| GO:00091001 | Oral cavity | OSCC | glycoprotein metabolic process | 185/7305 | 387/18723 | 2.37e-04 | 1.54e-03 | 185 |
| GO:006007010 | Oral cavity | OSCC | canonical Wnt signaling pathway | 148/7305 | 303/18723 | 2.89e-04 | 1.82e-03 | 148 |
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| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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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 |
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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 |
| PORCN | SNV | Missense_Mutation | c.388N>A | p.Val130Met | p.V130M | Q9H237 | protein_coding | deleterious(0) | possibly_damaging(0.475) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
| PORCN | SNV | Missense_Mutation | rs782086023 | c.269G>A | p.Arg90Gln | p.R90Q | Q9H237 | protein_coding | tolerated(0.09) | benign(0.133) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| PORCN | SNV | Missense_Mutation | c.1322N>T | p.Glu441Val | p.E441V | Q9H237 | protein_coding | deleterious(0.01) | benign(0.412) | TCGA-BH-A0HW-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD | |
| PORCN | insertion | Nonsense_Mutation | novel | c.751_752insGTAGTCGCTGAGTCAGGTTAGAGCATTGCAAGGCTGGGAG | p.Phe251CysfsTer4 | p.F251Cfs*4 | Q9H237 | protein_coding | TCGA-AN-A0FX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
| PORCN | SNV | Missense_Mutation | c.1168N>T | p.Arg390Cys | p.R390C | Q9H237 | protein_coding | deleterious(0) | possibly_damaging(0.892) | TCGA-BI-A0VR-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unknown | Unknown | SD | |
| PORCN | SNV | Missense_Mutation | rs148060082 | c.695N>A | p.Arg232His | p.R232H | Q9H237 | protein_coding | tolerated_low_confidence(0.16) | benign(0.013) | TCGA-C5-A7X5-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | carboplatin | PD |
| PORCN | SNV | Missense_Mutation | c.670N>C | p.Asp224His | p.D224H | Q9H237 | protein_coding | deleterious(0.02) | possibly_damaging(0.793) | TCGA-DR-A0ZM-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unspecific | Cisplatin | SD | |
| PORCN | SNV | Missense_Mutation | rs398124616 | c.1093N>T | p.Arg365Trp | p.R365W | Q9H237 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-EK-A2RA-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |
| PORCN | SNV | Missense_Mutation | c.496N>A | p.Val166Ile | p.V166I | Q9H237 | protein_coding | tolerated(1) | benign(0.003) | TCGA-VS-A952-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD | |
| PORCN | SNV | Missense_Mutation | rs782273836 | c.443N>T | p.Thr148Met | p.T148M | Q9H237 | protein_coding | tolerated(0.05) | benign(0.009) | TCGA-AA-3660-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
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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 |
| 64840 | PORCN | ENZYME, DRUGGABLE GENOME, TRANSPORTER | ETC-1922159 | ETC-159 | ||
| 64840 | PORCN | ENZYME, DRUGGABLE GENOME, TRANSPORTER | LGK974 | WNT-974 |
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