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Gene: PAPPA |
Gene summary for PAPPA |
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Gene information | Species | Human | Gene symbol | PAPPA | Gene ID | 5069 |
Gene name | pappalysin 1 | |
Gene Alias | ASBABP2 | |
Cytomap | 9q33.1 | |
Gene Type | protein-coding | GO ID | GO:0000003 | UniProtAcc | B4DTA8 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
5069 | PAPPA | PTC06 | Human | Thyroid | PTC | 7.62e-07 | 2.61e-01 | 0.2057 |
5069 | PAPPA | PTC07 | Human | Thyroid | PTC | 5.43e-04 | 1.33e-01 | 0.2044 |
5069 | PAPPA | ATC11 | Human | Thyroid | ATC | 3.34e-11 | 1.45e+00 | 0.3386 |
5069 | PAPPA | ATC12 | Human | Thyroid | ATC | 1.87e-59 | 1.72e+00 | 0.34 |
5069 | PAPPA | ATC13 | Human | Thyroid | ATC | 6.99e-29 | 7.84e-01 | 0.34 |
5069 | PAPPA | ATC2 | Human | Thyroid | ATC | 5.90e-10 | 8.76e-01 | 0.34 |
5069 | PAPPA | ATC3 | Human | Thyroid | ATC | 1.37e-27 | 1.95e+00 | 0.338 |
5069 | PAPPA | ATC4 | Human | Thyroid | ATC | 5.27e-70 | 1.95e+00 | 0.34 |
5069 | PAPPA | ATC5 | Human | Thyroid | ATC | 1.14e-29 | 9.01e-01 | 0.34 |
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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 |
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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:0048545113 | Thyroid | PTC | response to steroid hormone | 158/5968 | 339/18723 | 8.10e-09 | 2.00e-07 | 158 |
GO:0031960111 | Thyroid | PTC | response to corticosteroid | 69/5968 | 167/18723 | 6.18e-03 | 2.74e-02 | 69 |
GO:0051384111 | Thyroid | PTC | response to glucocorticoid | 62/5968 | 148/18723 | 6.39e-03 | 2.81e-02 | 62 |
GO:001604927 | Thyroid | ATC | cell growth | 241/6293 | 482/18723 | 4.27e-14 | 2.35e-12 | 241 |
GO:000155826 | Thyroid | ATC | regulation of cell growth | 201/6293 | 414/18723 | 1.57e-10 | 4.76e-09 | 201 |
GO:0048545210 | Thyroid | ATC | response to steroid hormone | 168/6293 | 339/18723 | 7.21e-10 | 1.88e-08 | 168 |
GO:006034813 | Thyroid | ATC | bone development | 102/6293 | 205/18723 | 1.18e-06 | 1.52e-05 | 102 |
GO:0060349 | Thyroid | ATC | bone morphogenesis | 50/6293 | 93/18723 | 4.87e-05 | 3.88e-04 | 50 |
GO:00487053 | Thyroid | ATC | skeletal system morphogenesis | 101/6293 | 220/18723 | 9.48e-05 | 6.93e-04 | 101 |
GO:000697016 | Thyroid | ATC | response to osmotic stress | 45/6293 | 84/18723 | 1.27e-04 | 9.03e-04 | 45 |
GO:005138427 | Thyroid | ATC | response to glucocorticoid | 65/6293 | 148/18723 | 5.62e-03 | 2.28e-02 | 65 |
GO:000756517 | Thyroid | ATC | female pregnancy | 82/6293 | 193/18723 | 6.04e-03 | 2.42e-02 | 82 |
GO:003196027 | Thyroid | ATC | response to corticosteroid | 72/6293 | 167/18723 | 6.39e-03 | 2.55e-02 | 72 |
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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 |
PAPPA | SNV | Missense_Mutation | c.3935T>C | p.Phe1312Ser | p.F1312S | Q13219 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-NH-A5IV-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
PAPPA | SNV | Missense_Mutation | c.1043G>A | p.Arg348His | p.R348H | Q13219 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-WS-AB45-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
PAPPA | SNV | Missense_Mutation | rs142176678 | c.3728G>A | p.Arg1243Gln | p.R1243Q | Q13219 | protein_coding | tolerated(0.89) | benign(0) | TCGA-WS-AB45-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PAPPA | SNV | Missense_Mutation | novel | c.2219N>A | p.Pro740His | p.P740H | Q13219 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AG-A002-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
PAPPA | SNV | Missense_Mutation | rs762183020 | c.3259N>T | p.Arg1087Trp | p.R1087W | Q13219 | protein_coding | deleterious(0.01) | benign(0) | TCGA-AG-A002-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
PAPPA | SNV | Missense_Mutation | c.2221N>T | p.Arg741Cys | p.R741C | Q13219 | protein_coding | deleterious(0) | possibly_damaging(0.863) | TCGA-AG-A02N-01 | Colorectum | rectum adenocarcinoma | Male | >=65 | I/II | Chemotherapy | folinic | CR | |
PAPPA | SNV | Missense_Mutation | novel | c.4235N>T | p.Pro1412Leu | p.P1412L | Q13219 | protein_coding | deleterious(0) | possibly_damaging(0.836) | TCGA-EF-5831-01 | Colorectum | rectum adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
PAPPA | SNV | Missense_Mutation | c.3182N>A | p.Gly1061Asp | p.G1061D | Q13219 | protein_coding | tolerated(0.53) | possibly_damaging(0.448) | TCGA-EI-6882-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
PAPPA | SNV | Missense_Mutation | novel | c.2864N>G | p.Asp955Gly | p.D955G | Q13219 | protein_coding | tolerated(0.18) | benign(0) | TCGA-EI-6917-01 | Colorectum | rectum adenocarcinoma | Male | <65 | III/IV | Chemotherapy | 5fluorouracil+oxaciplatina+l-folinian | SD |
PAPPA | SNV | Missense_Mutation | c.4234N>A | p.Pro1412Thr | p.P1412T | Q13219 | protein_coding | deleterious(0) | possibly_damaging(0.874) | TCGA-EI-6917-01 | Colorectum | rectum adenocarcinoma | Male | <65 | III/IV | Chemotherapy | 5fluorouracil+oxaciplatina+l-folinian | 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 |
5069 | PAPPA | DRUGGABLE GENOME, NEUTRAL ZINC METALLOPEPTIDASE, PROTEASE | TRANSFORMING GROWTH FACTOR | 12817760 | ||
5069 | PAPPA | DRUGGABLE GENOME, NEUTRAL ZINC METALLOPEPTIDASE, PROTEASE | ANTISERUM | 2475160 | ||
5069 | PAPPA | DRUGGABLE GENOME, NEUTRAL ZINC METALLOPEPTIDASE, PROTEASE | TGF | 12817760 |
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