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Gene: RUVBL1 |
Gene summary for RUVBL1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | RUVBL1 | Gene ID | 8607 |
| Gene name | RuvB like AAA ATPase 1 | |
| Gene Alias | ECP-54 | |
| Cytomap | 3q21.3 | |
| Gene Type | protein-coding | GO ID | GO:0000003 | UniProtAcc | Q9Y265 |
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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 |
| 8607 | RUVBL1 | LZE2T | Human | Esophagus | ESCC | 8.84e-08 | 1.30e+00 | 0.082 |
| 8607 | RUVBL1 | LZE4T | Human | Esophagus | ESCC | 1.77e-14 | 4.52e-01 | 0.0811 |
| 8607 | RUVBL1 | LZE7T | Human | Esophagus | ESCC | 1.94e-09 | 5.84e-01 | 0.0667 |
| 8607 | RUVBL1 | LZE8T | Human | Esophagus | ESCC | 4.35e-07 | 4.27e-01 | 0.067 |
| 8607 | RUVBL1 | LZE20T | Human | Esophagus | ESCC | 1.39e-02 | 1.24e-01 | 0.0662 |
| 8607 | RUVBL1 | LZE22T | Human | Esophagus | ESCC | 3.59e-06 | 5.23e-01 | 0.068 |
| 8607 | RUVBL1 | LZE24T | Human | Esophagus | ESCC | 2.81e-18 | 5.72e-01 | 0.0596 |
| 8607 | RUVBL1 | LZE21T | Human | Esophagus | ESCC | 2.37e-04 | 1.68e-01 | 0.0655 |
| 8607 | RUVBL1 | LZE6T | Human | Esophagus | ESCC | 8.60e-16 | 9.92e-01 | 0.0845 |
| 8607 | RUVBL1 | P1T-E | Human | Esophagus | ESCC | 5.04e-09 | 4.48e-01 | 0.0875 |
| 8607 | RUVBL1 | P2T-E | Human | Esophagus | ESCC | 3.73e-85 | 1.60e+00 | 0.1177 |
| 8607 | RUVBL1 | P4T-E | Human | Esophagus | ESCC | 1.80e-43 | 1.19e+00 | 0.1323 |
| 8607 | RUVBL1 | P5T-E | Human | Esophagus | ESCC | 1.22e-41 | 9.64e-01 | 0.1327 |
| 8607 | RUVBL1 | P8T-E | Human | Esophagus | ESCC | 6.88e-24 | 5.03e-01 | 0.0889 |
| 8607 | RUVBL1 | P9T-E | Human | Esophagus | ESCC | 7.97e-34 | 8.57e-01 | 0.1131 |
| 8607 | RUVBL1 | P10T-E | Human | Esophagus | ESCC | 1.24e-46 | 8.37e-01 | 0.116 |
| 8607 | RUVBL1 | P11T-E | Human | Esophagus | ESCC | 1.11e-14 | 6.22e-01 | 0.1426 |
| 8607 | RUVBL1 | P12T-E | Human | Esophagus | ESCC | 1.84e-24 | 5.57e-01 | 0.1122 |
| 8607 | RUVBL1 | P15T-E | Human | Esophagus | ESCC | 8.36e-36 | 7.57e-01 | 0.1149 |
| 8607 | RUVBL1 | P16T-E | Human | Esophagus | ESCC | 5.36e-68 | 1.24e+00 | 0.1153 |
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| 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:0022613111 | Esophagus | ESCC | ribonucleoprotein complex biogenesis | 365/8552 | 463/18723 | 1.74e-49 | 1.11e-45 | 365 |
| GO:0006403110 | Esophagus | ESCC | RNA localization | 166/8552 | 201/18723 | 1.95e-27 | 6.18e-25 | 166 |
| GO:001657015 | Esophagus | ESCC | histone modification | 323/8552 | 463/18723 | 2.61e-26 | 7.88e-24 | 323 |
| GO:001820514 | Esophagus | ESCC | peptidyl-lysine modification | 259/8552 | 376/18723 | 3.90e-20 | 5.26e-18 | 259 |
| GO:0071826111 | Esophagus | ESCC | ribonucleoprotein complex subunit organization | 166/8552 | 227/18723 | 2.94e-17 | 2.42e-15 | 166 |
| GO:0022618111 | Esophagus | ESCC | ribonucleoprotein complex assembly | 159/8552 | 220/18723 | 8.19e-16 | 5.71e-14 | 159 |
| GO:001839413 | Esophagus | ESCC | peptidyl-lysine acetylation | 123/8552 | 169/18723 | 6.58e-13 | 2.94e-11 | 123 |
| GO:004354313 | Esophagus | ESCC | protein acylation | 165/8552 | 243/18723 | 1.69e-12 | 7.14e-11 | 165 |
| GO:000647313 | Esophagus | ESCC | protein acetylation | 140/8552 | 201/18723 | 4.37e-12 | 1.69e-10 | 140 |
| GO:001839313 | Esophagus | ESCC | internal peptidyl-lysine acetylation | 114/8552 | 158/18723 | 1.16e-11 | 4.24e-10 | 114 |
| GO:000647513 | Esophagus | ESCC | internal protein amino acid acetylation | 115/8552 | 160/18723 | 1.43e-11 | 5.08e-10 | 115 |
| GO:00165735 | Esophagus | ESCC | histone acetylation | 110/8552 | 152/18723 | 1.95e-11 | 6.81e-10 | 110 |
| GO:001605517 | Esophagus | ESCC | Wnt signaling pathway | 268/8552 | 444/18723 | 2.32e-10 | 6.58e-09 | 268 |
| GO:019873817 | Esophagus | ESCC | cell-cell signaling by wnt | 269/8552 | 446/18723 | 2.41e-10 | 6.79e-09 | 269 |
| GO:004396712 | Esophagus | ESCC | histone H4 acetylation | 53/8552 | 67/18723 | 2.11e-08 | 4.03e-07 | 53 |
| GO:000632517 | Esophagus | ESCC | chromatin organization | 240/8552 | 409/18723 | 6.52e-08 | 1.14e-06 | 240 |
| GO:003011117 | Esophagus | ESCC | regulation of Wnt signaling pathway | 194/8552 | 328/18723 | 5.39e-07 | 7.14e-06 | 194 |
| GO:006007016 | Esophagus | ESCC | canonical Wnt signaling pathway | 180/8552 | 303/18723 | 9.15e-07 | 1.17e-05 | 180 |
| GO:006082817 | Esophagus | ESCC | regulation of canonical Wnt signaling pathway | 153/8552 | 253/18723 | 1.38e-06 | 1.67e-05 | 153 |
| GO:003239214 | Esophagus | ESCC | DNA geometric change | 62/8552 | 90/18723 | 7.02e-06 | 7.04e-05 | 62 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 |
| 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 |
| RUVBL1 | SNV | Missense_Mutation | novel | c.693N>C | p.Lys231Asn | p.K231N | Q9Y265 | protein_coding | deleterious(0.05) | probably_damaging(0.931) | TCGA-BH-A0B6-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| RUVBL1 | SNV | Missense_Mutation | novel | c.928G>A | p.Glu310Lys | p.E310K | Q9Y265 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-BH-A0DX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR |
| RUVBL1 | insertion | Frame_Shift_Ins | novel | c.663_664insTTCACTCCAGCAGTGGGCT | p.Pro222PhefsTer27 | p.P222Ffs*27 | Q9Y265 | protein_coding | TCGA-A2-A0D1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | taxotere | SD | ||
| RUVBL1 | deletion | Frame_Shift_Del | novel | c.351delN | p.Arg118GlyfsTer7 | p.R118Gfs*7 | Q9Y265 | protein_coding | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD | ||
| RUVBL1 | SNV | Missense_Mutation | rs758610032 | c.777N>A | p.Met259Ile | p.M259I | Q9Y265 | protein_coding | tolerated(0.18) | benign(0.007) | TCGA-C5-A2M1-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
| RUVBL1 | SNV | Missense_Mutation | c.904G>A | p.Asp302Asn | p.D302N | Q9Y265 | protein_coding | deleterious(0.01) | possibly_damaging(0.859) | TCGA-Q1-A73O-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
| RUVBL1 | SNV | Missense_Mutation | novel | c.490N>A | p.Ala164Thr | p.A164T | Q9Y265 | protein_coding | tolerated(0.9) | benign(0.007) | TCGA-A6-2672-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
| RUVBL1 | SNV | Missense_Mutation | c.349N>T | p.Arg117Cys | p.R117C | Q9Y265 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AA-3715-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD | |
| RUVBL1 | SNV | Missense_Mutation | c.349N>T | p.Arg117Cys | p.R117C | Q9Y265 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AA-3864-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
| RUVBL1 | SNV | Missense_Mutation | novel | c.470T>A | p.Val157Glu | p.V157E | Q9Y265 | protein_coding | deleterious(0) | probably_damaging(0.988) | TCGA-AA-A02F-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Chemotherapy | folinic | PR |
| Page: 1 2 3 4 5 6 |
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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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