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Gene: PDE6A |
Gene summary for PDE6A |
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Gene information | Species | Human | Gene symbol | PDE6A | Gene ID | 5145 |
Gene name | phosphodiesterase 6A | |
Gene Alias | CGPR-A | |
Cytomap | 5q32 | |
Gene Type | protein-coding | GO ID | GO:0001654 | UniProtAcc | P16499 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
5145 | PDE6A | HCC1 | Human | Liver | HCC | 3.24e-18 | 1.70e+00 | 0.5336 |
5145 | PDE6A | HCC2 | Human | Liver | HCC | 3.03e-30 | 2.22e+00 | 0.5341 |
5145 | PDE6A | HCC5 | Human | Liver | HCC | 1.06e-31 | 2.07e+00 | 0.4932 |
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Tissue | Expression Dynamics | Abbreviation |
Liver | ![]() | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
∗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 |
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Tissue | Disease Stage | Enriched GO biological Processes |
Esophagus | ESCC | ![]() |
Skin | AK | ![]() |
Skin | SCCIS | ![]() |
Skin | cSCC | ![]() |
Thyroid | HT | ![]() |
∗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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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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Cell-cell communication analysis |
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Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
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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 |
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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 |
PDE6A | SNV | Missense_Mutation | rs768108118 | c.565N>T | p.Val189Leu | p.V189L | P16499 | protein_coding | tolerated(0.54) | benign(0.019) | TCGA-A2-A04T-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
PDE6A | SNV | Missense_Mutation | c.979N>C | p.Glu327Gln | p.E327Q | P16499 | protein_coding | deleterious(0.03) | possibly_damaging(0.718) | TCGA-A2-A0YK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD | |
PDE6A | SNV | Missense_Mutation | c.979N>C | p.Glu327Gln | p.E327Q | P16499 | protein_coding | deleterious(0.03) | possibly_damaging(0.718) | TCGA-A7-A56D-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD | |
PDE6A | SNV | Missense_Mutation | rs762456548 | c.159N>A | p.Ser53Arg | p.S53R | P16499 | protein_coding | tolerated(0.25) | benign(0.058) | TCGA-A8-A09I-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD |
PDE6A | SNV | Missense_Mutation | c.1169N>C | p.Ile390Thr | p.I390T | P16499 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A8-A09Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
PDE6A | SNV | Missense_Mutation | c.2145N>A | p.Met715Ile | p.M715I | P16499 | protein_coding | deleterious(0) | benign(0.219) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
PDE6A | SNV | Missense_Mutation | c.352N>C | p.Asp118His | p.D118H | P16499 | protein_coding | deleterious(0.02) | benign(0.053) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
PDE6A | SNV | Missense_Mutation | c.1836G>C | p.Met612Ile | p.M612I | P16499 | protein_coding | tolerated(0.09) | possibly_damaging(0.481) | TCGA-AR-A0TT-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD | |
PDE6A | deletion | Frame_Shift_Del | novel | c.1025delN | p.Leu342Ter | p.L342* | P16499 | protein_coding | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD | ||
PDE6A | SNV | Missense_Mutation | c.1467N>C | p.Glu489Asp | p.E489D | P16499 | protein_coding | tolerated(0.3) | benign(0.001) | TCGA-JX-A3Q0-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unknown | Unknown | SD |
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Related drugs of malignant transformation related genes |
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(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
5145 | PDE6A | DRUGGABLE GENOME, ENZYME | inhibitor | 252827469 | ||
5145 | PDE6A | DRUGGABLE GENOME, ENZYME | inhibitor | CHEMBL628 | PENTOXIFYLLINE | |
5145 | PDE6A | DRUGGABLE GENOME, ENZYME | inhibitor | CHEMBL932 | DIPYRIDAMOLE |
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