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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 | CCI_1 | Human | Cervix | CC | 8.86e-11 | 1.12e+00 | 0.528 |
9698 | PUM1 | CCI_2 | Human | Cervix | CC | 3.51e-09 | 9.74e-01 | 0.5249 |
9698 | PUM1 | CCI_3 | Human | Cervix | CC | 2.50e-12 | 1.06e+00 | 0.516 |
9698 | PUM1 | HTA11_3410_2000001011 | Human | Colorectum | AD | 1.22e-02 | -3.15e-01 | 0.0155 |
9698 | PUM1 | HTA11_99999965062_69753 | Human | Colorectum | MSI-H | 1.82e-02 | 5.67e-01 | 0.3487 |
9698 | PUM1 | HTA11_99999965104_69814 | Human | Colorectum | MSS | 5.25e-10 | 6.51e-01 | 0.281 |
9698 | PUM1 | F007 | Human | Colorectum | FAP | 9.80e-04 | -3.01e-01 | 0.1176 |
9698 | PUM1 | A002-C-010 | Human | Colorectum | FAP | 4.33e-02 | -9.39e-02 | 0.242 |
9698 | PUM1 | A001-C-207 | Human | Colorectum | FAP | 4.22e-02 | -1.90e-01 | 0.1278 |
9698 | PUM1 | A015-C-203 | Human | Colorectum | FAP | 2.35e-33 | -4.33e-01 | -0.1294 |
9698 | PUM1 | A015-C-204 | Human | Colorectum | FAP | 2.66e-07 | -3.37e-01 | -0.0228 |
9698 | PUM1 | A014-C-040 | Human | Colorectum | FAP | 5.89e-08 | -2.89e-01 | -0.1184 |
9698 | PUM1 | A002-C-201 | Human | Colorectum | FAP | 2.95e-18 | -3.06e-01 | 0.0324 |
9698 | PUM1 | A001-C-119 | Human | Colorectum | FAP | 1.06e-09 | -5.34e-02 | -0.1557 |
9698 | PUM1 | A001-C-108 | Human | Colorectum | FAP | 8.07e-23 | -3.17e-01 | -0.0272 |
9698 | PUM1 | A002-C-205 | Human | Colorectum | FAP | 1.59e-30 | -3.04e-01 | -0.1236 |
9698 | PUM1 | A015-C-005 | Human | Colorectum | FAP | 4.30e-04 | -1.71e-01 | -0.0336 |
9698 | PUM1 | A015-C-006 | Human | Colorectum | FAP | 1.63e-24 | -4.05e-01 | -0.0994 |
9698 | PUM1 | A015-C-106 | Human | Colorectum | FAP | 7.15e-13 | -2.29e-01 | -0.0511 |
9698 | PUM1 | A002-C-114 | Human | Colorectum | FAP | 2.07e-28 | -5.43e-01 | -0.1561 |
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Transcriptomic changes along malignancy continuum. |
∗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:0006402110 | Esophagus | ESCC | mRNA catabolic process | 170/8552 | 232/18723 | 8.70e-18 | 8.00e-16 | 170 |
GO:0006417111 | Esophagus | ESCC | regulation of translation | 304/8552 | 468/18723 | 1.53e-17 | 1.33e-15 | 304 |
GO:004670018 | Esophagus | ESCC | heterocycle catabolic process | 286/8552 | 445/18723 | 1.12e-15 | 7.47e-14 | 286 |
GO:004427019 | Esophagus | ESCC | cellular nitrogen compound catabolic process | 288/8552 | 451/18723 | 3.03e-15 | 1.79e-13 | 288 |
GO:001943918 | Esophagus | ESCC | aromatic compound catabolic process | 295/8552 | 467/18723 | 1.09e-14 | 5.98e-13 | 295 |
GO:000961518 | Esophagus | ESCC | response to virus | 238/8552 | 367/18723 | 6.65e-14 | 3.32e-12 | 238 |
GO:190136118 | Esophagus | ESCC | organic cyclic compound catabolic process | 307/8552 | 495/18723 | 9.99e-14 | 4.80e-12 | 307 |
GO:00516075 | Esophagus | ESCC | defense response to virus | 171/8552 | 265/18723 | 3.91e-10 | 1.05e-08 | 171 |
GO:01405465 | Esophagus | ESCC | defense response to symbiont | 171/8552 | 265/18723 | 3.91e-10 | 1.05e-08 | 171 |
GO:190331316 | Esophagus | ESCC | positive regulation of mRNA metabolic process | 87/8552 | 118/18723 | 5.10e-10 | 1.32e-08 | 87 |
GO:006101319 | Esophagus | ESCC | regulation of mRNA catabolic process | 115/8552 | 166/18723 | 5.90e-10 | 1.49e-08 | 115 |
GO:004348719 | Esophagus | ESCC | regulation of RNA stability | 117/8552 | 170/18723 | 7.91e-10 | 1.94e-08 | 117 |
GO:0030522110 | Esophagus | ESCC | intracellular receptor signaling pathway | 170/8552 | 265/18723 | 8.58e-10 | 2.09e-08 | 170 |
GO:004348819 | Esophagus | ESCC | regulation of mRNA stability | 109/8552 | 158/18723 | 2.40e-09 | 5.35e-08 | 109 |
GO:00519833 | Esophagus | ESCC | regulation of chromosome segregation | 67/8552 | 91/18723 | 5.42e-08 | 9.66e-07 | 67 |
GO:006101416 | Esophagus | ESCC | positive regulation of mRNA catabolic process | 63/8552 | 87/18723 | 3.70e-07 | 5.15e-06 | 63 |
GO:006115716 | Esophagus | ESCC | mRNA destabilization | 61/8552 | 84/18723 | 4.81e-07 | 6.49e-06 | 61 |
GO:005077916 | Esophagus | ESCC | RNA destabilization | 63/8552 | 88/18723 | 7.23e-07 | 9.40e-06 | 63 |
GO:00028318 | Esophagus | ESCC | regulation of response to biotic stimulus | 191/8552 | 327/18723 | 2.12e-06 | 2.45e-05 | 191 |
GO:003952813 | Esophagus | ESCC | cytoplasmic pattern recognition receptor signaling pathway in response to virus | 28/8552 | 34/18723 | 1.21e-05 | 1.12e-04 | 28 |
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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 |
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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 |
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 |
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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 |
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