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Gene: PUM1 |
Gene summary for PUM1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | PUM1 | Gene ID | 9698 |
| Gene name | pumilio RNA binding family member 1 | |
| Gene Alias | HSPUM | |
| Cytomap | 1p35.2 | |
| Gene Type | protein-coding | GO ID | GO:0000003 | UniProtAcc | Q14671 |
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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 |
| 9698 | PUM1 | A015-C-104 | Human | Colorectum | FAP | 6.70e-41 | -4.78e-01 | -0.1899 |
| 9698 | PUM1 | A001-C-014 | Human | Colorectum | FAP | 1.44e-21 | -4.13e-01 | 0.0135 |
| 9698 | PUM1 | A002-C-016 | Human | Colorectum | FAP | 5.98e-27 | -3.86e-01 | 0.0521 |
| 9698 | PUM1 | A015-C-002 | Human | Colorectum | FAP | 1.89e-17 | -4.28e-01 | -0.0763 |
| 9698 | PUM1 | A001-C-203 | Human | Colorectum | FAP | 1.19e-09 | -1.98e-01 | -0.0481 |
| 9698 | PUM1 | A002-C-116 | Human | Colorectum | FAP | 5.53e-46 | -4.63e-01 | -0.0452 |
| 9698 | PUM1 | A014-C-008 | Human | Colorectum | FAP | 1.61e-22 | -4.76e-01 | -0.191 |
| 9698 | PUM1 | A018-E-020 | Human | Colorectum | FAP | 6.48e-31 | -4.78e-01 | -0.2034 |
| 9698 | PUM1 | F034 | Human | Colorectum | FAP | 2.40e-26 | -4.38e-01 | -0.0665 |
| 9698 | PUM1 | CRC-3-11773 | Human | Colorectum | CRC | 5.82e-09 | -3.85e-01 | 0.2564 |
| 9698 | PUM1 | AEH-subject1 | Human | Endometrium | AEH | 4.11e-18 | 5.09e-01 | -0.3059 |
| 9698 | PUM1 | AEH-subject2 | Human | Endometrium | AEH | 2.83e-08 | 2.47e-01 | -0.2525 |
| 9698 | PUM1 | AEH-subject3 | Human | Endometrium | AEH | 6.35e-10 | 3.15e-01 | -0.2576 |
| 9698 | PUM1 | AEH-subject4 | Human | Endometrium | AEH | 2.39e-16 | 5.14e-01 | -0.2657 |
| 9698 | PUM1 | AEH-subject5 | Human | Endometrium | AEH | 7.49e-27 | 6.76e-01 | -0.2953 |
| 9698 | PUM1 | EEC-subject1 | Human | Endometrium | EEC | 1.06e-16 | 4.16e-01 | -0.2682 |
| 9698 | PUM1 | EEC-subject2 | Human | Endometrium | EEC | 8.17e-14 | 4.40e-01 | -0.2607 |
| 9698 | PUM1 | EEC-subject3 | Human | Endometrium | EEC | 1.00e-17 | 1.42e-01 | -0.2525 |
| 9698 | PUM1 | EEC-subject4 | Human | Endometrium | EEC | 1.18e-09 | 2.61e-01 | -0.2571 |
| 9698 | PUM1 | EEC-subject5 | Human | Endometrium | EEC | 4.97e-09 | 3.49e-01 | -0.249 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Cervix |  | CC: Cervix cancer |
| HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions | ||
| N_HPV: HPV-infected normal cervix | ||
| Colorectum (GSE201348) |  | FAP: Familial adenomatous polyposis |
| CRC: Colorectal cancer | ||
| Colorectum (HTA11) |  | AD: Adenomas |
| SER: Sessile serrated lesions | ||
| MSI-H: Microsatellite-high colorectal cancer | ||
| MSS: Microsatellite stable colorectal cancer | ||
| Endometrium |  | AEH: Atypical endometrial hyperplasia |
| EEC: Endometrioid Cancer | ||
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease | ||
| Lung |  | AAH: Atypical adenomatous hyperplasia |
| AIS: Adenocarcinoma in situ | ||
| IAC: Invasive lung adenocarcinoma | ||
| MIA: Minimally invasive adenocarcinoma | ||
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma | ||
| Prostate |  | BPH: Benign Prostatic Hyperplasia |
| Skin |  | AK: Actinic keratosis |
| cSCC: Cutaneous squamous cell carcinoma | ||
| SCCIS:squamous cell carcinoma in situ | ||
| 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 |
| 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). |
| Page: 1 2 3 4 5 6 7 8 9 |
| Enriched GO biological processes. |
| GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
| GO:000989610 | Cervix | CC | positive regulation of catabolic process | 109/2311 | 492/18723 | 5.26e-10 | 6.99e-08 | 109 |
| GO:00321035 | Cervix | CC | positive regulation of response to external stimulus | 95/2311 | 427/18723 | 5.44e-09 | 5.03e-07 | 95 |
| GO:003133110 | Cervix | CC | positive regulation of cellular catabolic process | 91/2311 | 427/18723 | 9.64e-08 | 5.25e-06 | 91 |
| GO:00027644 | Cervix | CC | immune response-regulating signaling pathway | 97/2311 | 468/18723 | 1.49e-07 | 7.07e-06 | 97 |
| GO:00064029 | Cervix | CC | mRNA catabolic process | 56/2311 | 232/18723 | 4.81e-07 | 1.83e-05 | 56 |
| GO:19033119 | Cervix | CC | regulation of mRNA metabolic process | 64/2311 | 288/18723 | 1.71e-06 | 5.64e-05 | 64 |
| GO:00305229 | Cervix | CC | intracellular receptor signaling pathway | 60/2311 | 265/18723 | 1.89e-06 | 5.97e-05 | 60 |
| GO:00064019 | Cervix | CC | RNA catabolic process | 62/2311 | 278/18723 | 2.18e-06 | 6.56e-05 | 62 |
| GO:00028315 | Cervix | CC | regulation of response to biotic stimulus | 67/2311 | 327/18723 | 1.79e-05 | 3.36e-04 | 67 |
| GO:000641710 | Cervix | CC | regulation of translation | 89/2311 | 468/18723 | 1.86e-05 | 3.46e-04 | 89 |
| GO:00096158 | Cervix | CC | response to virus | 73/2311 | 367/18723 | 2.22e-05 | 3.95e-04 | 73 |
| GO:00488634 | Cervix | CC | stem cell differentiation | 46/2311 | 206/18723 | 4.11e-05 | 6.36e-04 | 46 |
| GO:00610139 | Cervix | CC | regulation of mRNA catabolic process | 38/2311 | 166/18723 | 1.07e-04 | 1.36e-03 | 38 |
| GO:00022212 | Cervix | CC | pattern recognition receptor signaling pathway | 39/2311 | 172/18723 | 1.08e-04 | 1.38e-03 | 39 |
| GO:00622073 | Cervix | CC | regulation of pattern recognition receptor signaling pathway | 27/2311 | 105/18723 | 1.37e-04 | 1.68e-03 | 27 |
| GO:19033136 | Cervix | CC | positive regulation of mRNA metabolic process | 29/2311 | 118/18723 | 1.86e-04 | 2.18e-03 | 29 |
| GO:00027534 | Cervix | CC | cytoplasmic pattern recognition receptor signaling pathway | 18/2311 | 60/18723 | 2.26e-04 | 2.55e-03 | 18 |
| GO:00467008 | Cervix | CC | heterocycle catabolic process | 80/2311 | 445/18723 | 3.23e-04 | 3.42e-03 | 80 |
| GO:00346559 | Cervix | CC | nucleobase-containing compound catabolic process | 74/2311 | 407/18723 | 3.77e-04 | 3.88e-03 | 74 |
| GO:00434889 | Cervix | CC | regulation of mRNA stability | 35/2311 | 158/18723 | 3.80e-04 | 3.89e-03 | 35 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa0501716 | Cervix | CC | Spinocerebellar ataxia | 35/1267 | 143/8465 | 1.77e-03 | 7.21e-03 | 4.26e-03 | 35 |
| hsa0501717 | Cervix | CC | Spinocerebellar ataxia | 35/1267 | 143/8465 | 1.77e-03 | 7.21e-03 | 4.26e-03 | 35 |
| hsa05017 | Colorectum | AD | Spinocerebellar ataxia | 60/2092 | 143/8465 | 3.78e-06 | 4.35e-05 | 2.78e-05 | 60 |
| hsa050171 | Colorectum | AD | Spinocerebellar ataxia | 60/2092 | 143/8465 | 3.78e-06 | 4.35e-05 | 2.78e-05 | 60 |
| hsa050174 | Colorectum | MSS | Spinocerebellar ataxia | 60/1875 | 143/8465 | 7.14e-08 | 1.26e-06 | 7.71e-07 | 60 |
| hsa050175 | Colorectum | MSS | Spinocerebellar ataxia | 60/1875 | 143/8465 | 7.14e-08 | 1.26e-06 | 7.71e-07 | 60 |
| hsa050176 | Colorectum | MSI-H | Spinocerebellar ataxia | 33/797 | 143/8465 | 8.28e-07 | 1.49e-05 | 1.25e-05 | 33 |
| hsa050177 | Colorectum | MSI-H | Spinocerebellar ataxia | 33/797 | 143/8465 | 8.28e-07 | 1.49e-05 | 1.25e-05 | 33 |
| hsa050178 | Colorectum | FAP | Spinocerebellar ataxia | 37/1404 | 143/8465 | 2.94e-03 | 1.29e-02 | 7.86e-03 | 37 |
| hsa050179 | Colorectum | FAP | Spinocerebellar ataxia | 37/1404 | 143/8465 | 2.94e-03 | 1.29e-02 | 7.86e-03 | 37 |
| hsa0501718 | Endometrium | AEH | Spinocerebellar ataxia | 43/1197 | 143/8465 | 5.92e-07 | 7.69e-06 | 5.63e-06 | 43 |
| hsa0501719 | Endometrium | AEH | Spinocerebellar ataxia | 43/1197 | 143/8465 | 5.92e-07 | 7.69e-06 | 5.63e-06 | 43 |
| hsa0501723 | Endometrium | EEC | Spinocerebellar ataxia | 43/1237 | 143/8465 | 1.46e-06 | 2.01e-05 | 1.50e-05 | 43 |
| hsa0501733 | Endometrium | EEC | Spinocerebellar ataxia | 43/1237 | 143/8465 | 1.46e-06 | 2.01e-05 | 1.50e-05 | 43 |
| hsa0501728 | Esophagus | ESCC | Spinocerebellar ataxia | 94/4205 | 143/8465 | 6.77e-05 | 2.90e-04 | 1.48e-04 | 94 |
| hsa0501736 | Esophagus | ESCC | Spinocerebellar ataxia | 94/4205 | 143/8465 | 6.77e-05 | 2.90e-04 | 1.48e-04 | 94 |
| hsa0501710 | Liver | Cirrhotic | Spinocerebellar ataxia | 66/2530 | 143/8465 | 2.58e-05 | 2.15e-04 | 1.32e-04 | 66 |
| hsa0501711 | Liver | Cirrhotic | Spinocerebellar ataxia | 66/2530 | 143/8465 | 2.58e-05 | 2.15e-04 | 1.32e-04 | 66 |
| hsa0501721 | Liver | HCC | Spinocerebellar ataxia | 92/4020 | 143/8465 | 3.20e-05 | 1.88e-04 | 1.04e-04 | 92 |
| hsa0501731 | Liver | HCC | Spinocerebellar ataxia | 92/4020 | 143/8465 | 3.20e-05 | 1.88e-04 | 1.04e-04 | 92 |
| Page: 1 2 |
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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 |
| Page: 1 |
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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. |
| Page: 1 |
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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 |
| PUM1 | SNV | Missense_Mutation | novel | c.2154N>C | p.Lys718Asn | p.K718N | Q14671 | protein_coding | deleterious(0.02) | benign(0.168) | TCGA-3C-AALI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Poly E | Complete Response |
| PUM1 | SNV | Missense_Mutation | novel | c.577N>G | p.Arg193Gly | p.R193G | Q14671 | protein_coding | deleterious_low_confidence(0) | benign(0.445) | TCGA-AR-A2LJ-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | SD |
| PUM1 | SNV | Missense_Mutation | rs560648926 | c.1145N>G | p.Asn382Ser | p.N382S | Q14671 | protein_coding | tolerated_low_confidence(0.27) | benign(0.068) | TCGA-B6-A0I1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
| PUM1 | SNV | Missense_Mutation | c.2282N>T | p.Pro761Leu | p.P761L | Q14671 | protein_coding | deleterious(0) | benign(0.201) | TCGA-E2-A159-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD | |
| PUM1 | SNV | Missense_Mutation | novel | c.3214N>A | p.Leu1072Ile | p.L1072I | Q14671 | protein_coding | deleterious(0.01) | benign(0.208) | TCGA-E9-A54X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| PUM1 | SNV | Missense_Mutation | novel | c.271N>A | p.Glu91Lys | p.E91K | Q14671 | protein_coding | deleterious_low_confidence(0.01) | benign(0.074) | TCGA-EW-A3E8-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | anastrozole | SD |
| PUM1 | SNV | Missense_Mutation | novel | c.2386C>T | p.Arg796Cys | p.R796C | Q14671 | protein_coding | deleterious(0) | probably_damaging(0.91) | TCGA-LL-A8F5-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
| PUM1 | insertion | Nonsense_Mutation | novel | c.2299_2300insCTAGATGTAGAGTCACCATATAATGTATCATGCAAACC | p.Gly767AlafsTer8 | p.G767Afs*8 | Q14671 | protein_coding | TCGA-A2-A0CP-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD | ||
| PUM1 | insertion | In_Frame_Ins | novel | c.2594_2595insAACAGGAGC | p.Phe865delinsLeuThrGlyAla | p.F865delinsLTGA | Q14671 | protein_coding | TCGA-B6-A0IK-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD | ||
| PUM1 | insertion | Frame_Shift_Ins | novel | c.2592_2593insG | p.Phe865ValfsTer13 | p.F865Vfs*13 | Q14671 | protein_coding | TCGA-B6-A0IK-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 |
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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 |
| Page: 1 |
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