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Gene: RRS1 |
Gene summary for RRS1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | RRS1 | Gene ID | 23212 |
| Gene name | ribosome biogenesis regulator 1 homolog | |
| Gene Alias | RRS1 | |
| Cytomap | 8q13.1 | |
| Gene Type | protein-coding | GO ID | GO:0000027 | UniProtAcc | Q15050 |
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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 |
| 23212 | RRS1 | LZE2T | Human | Esophagus | ESCC | 1.14e-05 | 4.11e-01 | 0.082 |
| 23212 | RRS1 | LZE4T | Human | Esophagus | ESCC | 4.09e-07 | 1.85e-01 | 0.0811 |
| 23212 | RRS1 | LZE7T | Human | Esophagus | ESCC | 2.65e-04 | 4.48e-02 | 0.0667 |
| 23212 | RRS1 | LZE8T | Human | Esophagus | ESCC | 5.70e-05 | 3.90e-02 | 0.067 |
| 23212 | RRS1 | LZE24T | Human | Esophagus | ESCC | 1.37e-03 | 1.54e-01 | 0.0596 |
| 23212 | RRS1 | P2T-E | Human | Esophagus | ESCC | 1.64e-12 | 2.29e-01 | 0.1177 |
| 23212 | RRS1 | P4T-E | Human | Esophagus | ESCC | 8.78e-10 | 4.44e-01 | 0.1323 |
| 23212 | RRS1 | P5T-E | Human | Esophagus | ESCC | 7.15e-16 | 3.27e-01 | 0.1327 |
| 23212 | RRS1 | P8T-E | Human | Esophagus | ESCC | 3.95e-09 | 2.87e-02 | 0.0889 |
| 23212 | RRS1 | P9T-E | Human | Esophagus | ESCC | 3.41e-10 | 2.79e-01 | 0.1131 |
| 23212 | RRS1 | P10T-E | Human | Esophagus | ESCC | 2.81e-10 | 2.00e-01 | 0.116 |
| 23212 | RRS1 | P11T-E | Human | Esophagus | ESCC | 2.67e-03 | 5.34e-01 | 0.1426 |
| 23212 | RRS1 | P12T-E | Human | Esophagus | ESCC | 1.15e-16 | 2.89e-01 | 0.1122 |
| 23212 | RRS1 | P15T-E | Human | Esophagus | ESCC | 4.52e-16 | 4.66e-01 | 0.1149 |
| 23212 | RRS1 | P16T-E | Human | Esophagus | ESCC | 1.48e-16 | 5.65e-01 | 0.1153 |
| 23212 | RRS1 | P17T-E | Human | Esophagus | ESCC | 7.37e-03 | 3.59e-01 | 0.1278 |
| 23212 | RRS1 | P20T-E | Human | Esophagus | ESCC | 1.37e-15 | 3.72e-01 | 0.1124 |
| 23212 | RRS1 | P21T-E | Human | Esophagus | ESCC | 3.70e-22 | 6.37e-01 | 0.1617 |
| 23212 | RRS1 | P22T-E | Human | Esophagus | ESCC | 7.54e-25 | 4.21e-01 | 0.1236 |
| 23212 | RRS1 | P23T-E | Human | Esophagus | ESCC | 9.72e-27 | 7.82e-01 | 0.108 |
| Page: 1 2 3 4 5 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| 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 | ||
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma | ||
| 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:000005412 | Skin | cSCC | ribosomal subunit export from nucleus | 13/4864 | 14/18723 | 2.58e-07 | 5.33e-06 | 13 |
| GO:003375012 | Skin | cSCC | ribosome localization | 13/4864 | 14/18723 | 2.58e-07 | 5.33e-06 | 13 |
| GO:00714285 | Skin | cSCC | rRNA-containing ribonucleoprotein complex export from nucleus | 13/4864 | 15/18723 | 1.47e-06 | 2.52e-05 | 13 |
| GO:000002728 | Skin | cSCC | ribosomal large subunit assembly | 19/4864 | 27/18723 | 1.72e-06 | 2.88e-05 | 19 |
| GO:00004694 | Skin | cSCC | cleavage involved in rRNA processing | 19/4864 | 27/18723 | 1.72e-06 | 2.88e-05 | 19 |
| GO:00004664 | Skin | cSCC | maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) | 16/4864 | 24/18723 | 3.35e-05 | 3.66e-04 | 16 |
| GO:00903054 | Skin | cSCC | nucleic acid phosphodiester bond hydrolysis | 97/4864 | 261/18723 | 4.08e-05 | 4.34e-04 | 97 |
| GO:19025703 | Skin | cSCC | protein localization to nucleolus | 11/4864 | 16/18723 | 4.08e-04 | 3.18e-03 | 11 |
| GO:00905024 | Skin | cSCC | RNA phosphodiester bond hydrolysis, endonucleolytic | 34/4864 | 82/18723 | 1.58e-03 | 9.75e-03 | 34 |
| GO:00004784 | Skin | cSCC | endonucleolytic cleavage involved in rRNA processing | 9/4864 | 15/18723 | 5.52e-03 | 2.73e-02 | 9 |
| GO:00004794 | Skin | cSCC | endonucleolytic cleavage of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) | 9/4864 | 15/18723 | 5.52e-03 | 2.73e-02 | 9 |
| GO:0022613113 | Thyroid | PTC | ribonucleoprotein complex biogenesis | 292/5968 | 463/18723 | 3.24e-44 | 2.05e-40 | 292 |
| GO:0042254113 | Thyroid | PTC | ribosome biogenesis | 202/5968 | 299/18723 | 3.47e-37 | 5.47e-34 | 202 |
| GO:0006364112 | Thyroid | PTC | rRNA processing | 156/5968 | 225/18723 | 5.58e-31 | 5.03e-28 | 156 |
| GO:0016072112 | Thyroid | PTC | rRNA metabolic process | 160/5968 | 236/18723 | 5.68e-30 | 3.58e-27 | 160 |
| GO:0006913112 | Thyroid | PTC | nucleocytoplasmic transport | 181/5968 | 301/18723 | 2.93e-24 | 7.69e-22 | 181 |
| GO:0051169112 | Thyroid | PTC | nuclear transport | 181/5968 | 301/18723 | 2.93e-24 | 7.69e-22 | 181 |
| GO:0034504111 | Thyroid | PTC | protein localization to nucleus | 170/5968 | 290/18723 | 3.34e-21 | 6.38e-19 | 170 |
| GO:003447018 | Thyroid | PTC | ncRNA processing | 215/5968 | 395/18723 | 7.14e-21 | 1.22e-18 | 215 |
| GO:0051168112 | Thyroid | PTC | nuclear export | 102/5968 | 154/18723 | 1.78e-18 | 2.01e-16 | 102 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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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 |
| RRS1 | SNV | Missense_Mutation | c.49N>A | p.Glu17Lys | p.E17K | Q15050 | protein_coding | tolerated(0.21) | benign(0.359) | TCGA-GM-A2D9-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD | |
| RRS1 | SNV | Missense_Mutation | c.854N>T | p.Thr285Ile | p.T285I | Q15050 | protein_coding | tolerated(0.08) | possibly_damaging(0.597) | TCGA-D5-6928-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
| RRS1 | deletion | Frame_Shift_Del | c.140delC | p.Pro47ArgfsTer42 | p.P47Rfs*42 | Q15050 | protein_coding | TCGA-D5-6540-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |||
| RRS1 | deletion | Frame_Shift_Del | c.135delN | p.Pro47ArgfsTer42 | p.P47Rfs*42 | Q15050 | protein_coding | TCGA-G4-6588-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |||
| RRS1 | deletion | Frame_Shift_Del | c.135delN | p.Pro47ArgfsTer42 | p.P47Rfs*42 | Q15050 | protein_coding | TCGA-WS-AB45-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |||
| RRS1 | SNV | Missense_Mutation | novel | c.410N>A | p.Ser137Asn | p.S137N | Q15050 | protein_coding | tolerated(0.53) | benign(0.046) | TCGA-AJ-A3EK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
| RRS1 | SNV | Missense_Mutation | novel | c.1031C>T | p.Ser344Phe | p.S344F | Q15050 | protein_coding | deleterious_low_confidence(0.02) | benign(0.062) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| RRS1 | SNV | Missense_Mutation | novel | c.247N>T | p.Arg83Cys | p.R83C | Q15050 | protein_coding | deleterious(0) | possibly_damaging(0.825) | TCGA-AX-A3FS-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| RRS1 | SNV | Missense_Mutation | novel | c.470T>G | p.Leu157Arg | p.L157R | Q15050 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-EO-A3B0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
| RRS1 | SNV | Missense_Mutation | rs775749259 | c.1031C>A | p.Ser344Tyr | p.S344Y | Q15050 | protein_coding | deleterious_low_confidence(0.02) | benign(0.062) | TCGA-EO-A3B0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
| Page: 1 2 |
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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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