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Gene: PRF1 |
Gene summary for PRF1 |
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Gene information | Species | Human | Gene symbol | PRF1 | Gene ID | 5551 |
Gene name | perforin 1 | |
Gene Alias | HPLH2 | |
Cytomap | 10q22.1 | |
Gene Type | protein-coding | GO ID | GO:0001771 | UniProtAcc | P14222 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
5551 | PRF1 | C21 | Human | Oral cavity | OSCC | 7.24e-15 | 6.01e-01 | 0.2678 |
5551 | PRF1 | C38 | Human | Oral cavity | OSCC | 6.69e-06 | 5.61e-01 | 0.172 |
5551 | PRF1 | ATC2 | Human | Thyroid | ATC | 6.74e-16 | 3.15e+00 | 0.34 |
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∗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 |
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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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:000961515 | Oral cavity | OSCC | response to virus | 215/7305 | 367/18723 | 1.63e-14 | 9.41e-13 | 215 |
GO:00516074 | Oral cavity | OSCC | defense response to virus | 154/7305 | 265/18723 | 1.96e-10 | 5.63e-09 | 154 |
GO:01405464 | Oral cavity | OSCC | defense response to symbiont | 154/7305 | 265/18723 | 1.96e-10 | 5.63e-09 | 154 |
GO:00358218 | Oral cavity | OSCC | modulation of process of other organism | 64/7305 | 106/18723 | 6.70e-06 | 7.36e-05 | 64 |
GO:0051259 | Oral cavity | OSCC | protein complex oligomerization | 121/7305 | 238/18723 | 1.29e-04 | 9.21e-04 | 121 |
GO:0009615111 | Thyroid | ATC | response to virus | 173/6293 | 367/18723 | 4.23e-08 | 7.71e-07 | 173 |
GO:003582121 | Thyroid | ATC | modulation of process of other organism | 55/6293 | 106/18723 | 7.71e-05 | 5.82e-04 | 55 |
GO:005160712 | Thyroid | ATC | defense response to virus | 115/6293 | 265/18723 | 5.31e-04 | 3.09e-03 | 115 |
GO:014054612 | Thyroid | ATC | defense response to symbiont | 115/6293 | 265/18723 | 5.31e-04 | 3.09e-03 | 115 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0421018 | Oral cavity | OSCC | Apoptosis | 101/3704 | 136/8465 | 3.34e-13 | 7.00e-12 | 3.56e-12 | 101 |
hsa0541629 | Oral cavity | OSCC | Viral myocarditis | 39/3704 | 60/8465 | 7.13e-04 | 2.09e-03 | 1.07e-03 | 39 |
hsa0421019 | Oral cavity | OSCC | Apoptosis | 101/3704 | 136/8465 | 3.34e-13 | 7.00e-12 | 3.56e-12 | 101 |
hsa05416113 | Oral cavity | OSCC | Viral myocarditis | 39/3704 | 60/8465 | 7.13e-04 | 2.09e-03 | 1.07e-03 | 39 |
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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 |
PRF1 | SNV | Missense_Mutation | rs747380397 | c.695N>A | p.Arg232His | p.R232H | P14222 | protein_coding | deleterious(0.04) | possibly_damaging(0.737) | TCGA-VQ-A91A-01 | Stomach | stomach adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | PD |
PRF1 | SNV | Missense_Mutation | novel | c.831N>T | p.Lys277Asn | p.K277N | P14222 | protein_coding | tolerated(0.13) | benign(0.035) | TCGA-VQ-A91D-01 | Stomach | stomach adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | fluorouracil | PD |
PRF1 | SNV | Missense_Mutation | novel | c.767A>C | p.Asp256Ala | p.D256A | P14222 | protein_coding | deleterious(0.01) | possibly_damaging(0.727) | TCGA-VQ-A94U-01 | Stomach | stomach adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
PRF1 | SNV | Missense_Mutation | novel | c.352G>T | p.Ala118Ser | p.A118S | P14222 | protein_coding | deleterious(0.01) | possibly_damaging(0.891) | TCGA-DJ-A2QB-01 | Thyroid | thyroid carcinoma | Female | <65 | I/II | 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 |
5551 | PRF1 | TRANSPORTER, CLINICALLY ACTIONABLE, DRUGGABLE GENOME | IL-2 | ALDESLEUKIN | 15893691 | |
5551 | PRF1 | TRANSPORTER, CLINICALLY ACTIONABLE, DRUGGABLE GENOME | emapalumab | EMAPALUMAB | ||
5551 | PRF1 | TRANSPORTER, CLINICALLY ACTIONABLE, DRUGGABLE GENOME | inhibitor | 387065583 | ||
5551 | PRF1 | TRANSPORTER, CLINICALLY ACTIONABLE, DRUGGABLE GENOME | Emapalumab-lzsg | EMAPALUMAB |
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