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Gene: RPUSD1 |
Gene summary for RPUSD1 |
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Gene information | Species | Human | Gene symbol | RPUSD1 | Gene ID | 113000 |
Gene name | RNA pseudouridine synthase domain containing 1 | |
Gene Alias | C16orf40 | |
Cytomap | 16p13.3 | |
Gene Type | protein-coding | GO ID | GO:0000154 | UniProtAcc | H3BUN6 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
113000 | RPUSD1 | LZE4T | Human | Esophagus | ESCC | 5.94e-03 | 7.00e-02 | 0.0811 |
113000 | RPUSD1 | LZE7T | Human | Esophagus | ESCC | 1.89e-03 | 1.91e-01 | 0.0667 |
113000 | RPUSD1 | LZE20T | Human | Esophagus | ESCC | 3.74e-07 | 2.00e-01 | 0.0662 |
113000 | RPUSD1 | LZE22T | Human | Esophagus | ESCC | 5.48e-09 | 4.98e-01 | 0.068 |
113000 | RPUSD1 | LZE24T | Human | Esophagus | ESCC | 1.56e-18 | 4.77e-01 | 0.0596 |
113000 | RPUSD1 | P1T-E | Human | Esophagus | ESCC | 1.58e-10 | 3.75e-01 | 0.0875 |
113000 | RPUSD1 | P2T-E | Human | Esophagus | ESCC | 7.33e-36 | 5.48e-01 | 0.1177 |
113000 | RPUSD1 | P4T-E | Human | Esophagus | ESCC | 1.37e-28 | 6.27e-01 | 0.1323 |
113000 | RPUSD1 | P5T-E | Human | Esophagus | ESCC | 2.03e-28 | 5.32e-01 | 0.1327 |
113000 | RPUSD1 | P8T-E | Human | Esophagus | ESCC | 1.79e-21 | 3.85e-01 | 0.0889 |
113000 | RPUSD1 | P9T-E | Human | Esophagus | ESCC | 9.12e-10 | 1.87e-01 | 0.1131 |
113000 | RPUSD1 | P10T-E | Human | Esophagus | ESCC | 8.23e-18 | 1.86e-01 | 0.116 |
113000 | RPUSD1 | P11T-E | Human | Esophagus | ESCC | 1.06e-14 | 4.98e-01 | 0.1426 |
113000 | RPUSD1 | P12T-E | Human | Esophagus | ESCC | 9.27e-26 | 4.46e-01 | 0.1122 |
113000 | RPUSD1 | P15T-E | Human | Esophagus | ESCC | 8.53e-30 | 5.76e-01 | 0.1149 |
113000 | RPUSD1 | P16T-E | Human | Esophagus | ESCC | 9.21e-19 | 2.50e-01 | 0.1153 |
113000 | RPUSD1 | P17T-E | Human | Esophagus | ESCC | 1.28e-11 | 4.29e-01 | 0.1278 |
113000 | RPUSD1 | P19T-E | Human | Esophagus | ESCC | 5.38e-09 | 7.73e-01 | 0.1662 |
113000 | RPUSD1 | P20T-E | Human | Esophagus | ESCC | 1.66e-31 | 6.35e-01 | 0.1124 |
113000 | RPUSD1 | P21T-E | Human | Esophagus | ESCC | 4.71e-39 | 7.23e-01 | 0.1617 |
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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:0022613111 | Esophagus | ESCC | ribonucleoprotein complex biogenesis | 365/8552 | 463/18723 | 1.74e-49 | 1.11e-45 | 365 |
GO:0042254111 | Esophagus | ESCC | ribosome biogenesis | 252/8552 | 299/18723 | 3.27e-44 | 1.04e-40 | 252 |
GO:003447015 | Esophagus | ESCC | ncRNA processing | 300/8552 | 395/18723 | 3.09e-35 | 3.26e-32 | 300 |
GO:0016072110 | Esophagus | ESCC | rRNA metabolic process | 197/8552 | 236/18723 | 1.31e-33 | 1.18e-30 | 197 |
GO:0006364110 | Esophagus | ESCC | rRNA processing | 189/8552 | 225/18723 | 4.88e-33 | 3.87e-30 | 189 |
GO:003466012 | Esophagus | ESCC | ncRNA metabolic process | 346/8552 | 485/18723 | 4.35e-31 | 2.51e-28 | 346 |
GO:00094512 | Esophagus | ESCC | RNA modification | 114/8552 | 167/18723 | 2.76e-09 | 6.04e-08 | 114 |
GO:00015221 | Esophagus | ESCC | pseudouridine synthesis | 16/8552 | 18/18723 | 1.78e-04 | 1.15e-03 | 16 |
GO:0000154 | Esophagus | ESCC | rRNA modification | 26/8552 | 37/18723 | 2.16e-03 | 9.62e-03 | 26 |
GO:00311182 | Esophagus | ESCC | rRNA pseudouridine synthesis | 9/8552 | 10/18723 | 5.09e-03 | 1.92e-02 | 9 |
GO:002261322 | Liver | HCC | ribonucleoprotein complex biogenesis | 355/7958 | 463/18723 | 7.76e-52 | 4.92e-48 | 355 |
GO:004225422 | Liver | HCC | ribosome biogenesis | 246/7958 | 299/18723 | 4.99e-46 | 1.58e-42 | 246 |
GO:00344702 | Liver | HCC | ncRNA processing | 293/7958 | 395/18723 | 4.26e-38 | 6.76e-35 | 293 |
GO:001607212 | Liver | HCC | rRNA metabolic process | 193/7958 | 236/18723 | 1.26e-35 | 1.14e-32 | 193 |
GO:000636421 | Liver | HCC | rRNA processing | 185/7958 | 225/18723 | 8.14e-35 | 6.45e-32 | 185 |
GO:00346601 | Liver | HCC | ncRNA metabolic process | 332/7958 | 485/18723 | 1.48e-31 | 7.80e-29 | 332 |
GO:0009451 | Liver | HCC | RNA modification | 101/7958 | 167/18723 | 2.02e-06 | 2.78e-05 | 101 |
GO:002261320 | Oral cavity | OSCC | ribonucleoprotein complex biogenesis | 333/7305 | 463/18723 | 8.28e-48 | 5.24e-44 | 333 |
GO:004225420 | Oral cavity | OSCC | ribosome biogenesis | 230/7305 | 299/18723 | 3.22e-41 | 6.80e-38 | 230 |
GO:000636410 | Oral cavity | OSCC | rRNA processing | 172/7305 | 225/18723 | 1.57e-30 | 1.24e-27 | 172 |
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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 |
RPUSD1 | SNV | Missense_Mutation | rs752096465 | c.250N>A | p.Gly84Ser | p.G84S | Q9UJJ7 | protein_coding | tolerated(0.12) | possibly_damaging(0.84) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
RPUSD1 | SNV | Missense_Mutation | rs763994085 | c.283G>A | p.Val95Met | p.V95M | Q9UJJ7 | protein_coding | deleterious(0) | probably_damaging(0.987) | TCGA-BH-A42U-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RPUSD1 | SNV | Missense_Mutation | c.524A>C | p.Gln175Pro | p.Q175P | Q9UJJ7 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A6-6780-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
RPUSD1 | SNV | Missense_Mutation | c.359N>A | p.Arg120Lys | p.R120K | Q9UJJ7 | protein_coding | tolerated(1) | benign(0.003) | TCGA-AD-6964-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Chemotherapy | folfox | PD | |
RPUSD1 | SNV | Missense_Mutation | c.277N>T | p.Arg93Trp | p.R93W | Q9UJJ7 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-F4-6856-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Ancillary | leucovorin | CR | |
RPUSD1 | SNV | Missense_Mutation | c.278N>T | p.Arg93Leu | p.R93L | Q9UJJ7 | protein_coding | deleterious(0) | probably_damaging(0.991) | TCGA-G4-6320-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | oxaliplatin | SD | |
RPUSD1 | SNV | Missense_Mutation | rs754419281 | c.445G>A | p.Val149Met | p.V149M | Q9UJJ7 | protein_coding | tolerated(0.27) | benign(0.035) | TCGA-AX-A3FT-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RPUSD1 | SNV | Missense_Mutation | rs144681546 | c.310C>T | p.Arg104Trp | p.R104W | Q9UJJ7 | protein_coding | deleterious(0) | possibly_damaging(0.511) | TCGA-D1-A103-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RPUSD1 | SNV | Missense_Mutation | rs370324017 | c.208A>G | p.Thr70Ala | p.T70A | Q9UJJ7 | protein_coding | deleterious(0.01) | probably_damaging(0.998) | TCGA-D1-A15X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RPUSD1 | SNV | Missense_Mutation | rs775498059 | c.82N>G | p.Arg28Gly | p.R28G | Q9UJJ7 | protein_coding | tolerated(0.1) | probably_damaging(0.925) | TCGA-34-5232-01 | Lung | lung squamous cell 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 |
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