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Gene: RHBDL1 |
Gene summary for RHBDL1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | RHBDL1 | Gene ID | 9028 |
| Gene name | rhomboid like 1 | |
| Gene Alias | RHBDL | |
| Cytomap | 16p13.3 | |
| Gene Type | protein-coding | GO ID | GO:0006508 | UniProtAcc | O75783 |
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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 |
| 9028 | RHBDL1 | LZE7T | Human | Esophagus | ESCC | 2.63e-03 | 2.48e-01 | 0.0667 |
| 9028 | RHBDL1 | P2T-E | Human | Esophagus | ESCC | 2.70e-43 | 9.90e-01 | 0.1177 |
| 9028 | RHBDL1 | P4T-E | Human | Esophagus | ESCC | 2.96e-13 | 3.96e-01 | 0.1323 |
| 9028 | RHBDL1 | P5T-E | Human | Esophagus | ESCC | 1.90e-08 | 2.31e-01 | 0.1327 |
| 9028 | RHBDL1 | P8T-E | Human | Esophagus | ESCC | 1.10e-02 | 7.23e-02 | 0.0889 |
| 9028 | RHBDL1 | P9T-E | Human | Esophagus | ESCC | 1.47e-02 | 5.80e-02 | 0.1131 |
| 9028 | RHBDL1 | P12T-E | Human | Esophagus | ESCC | 4.93e-11 | 2.84e-01 | 0.1122 |
| 9028 | RHBDL1 | P15T-E | Human | Esophagus | ESCC | 1.65e-08 | 1.39e-01 | 0.1149 |
| 9028 | RHBDL1 | P16T-E | Human | Esophagus | ESCC | 9.64e-18 | 4.75e-01 | 0.1153 |
| 9028 | RHBDL1 | P20T-E | Human | Esophagus | ESCC | 2.70e-17 | 4.07e-01 | 0.1124 |
| 9028 | RHBDL1 | P22T-E | Human | Esophagus | ESCC | 8.55e-03 | 1.38e-01 | 0.1236 |
| 9028 | RHBDL1 | P26T-E | Human | Esophagus | ESCC | 8.11e-30 | 6.80e-01 | 0.1276 |
| 9028 | RHBDL1 | P28T-E | Human | Esophagus | ESCC | 5.76e-06 | 1.27e-01 | 0.1149 |
| 9028 | RHBDL1 | P37T-E | Human | Esophagus | ESCC | 8.28e-09 | 3.25e-01 | 0.1371 |
| 9028 | RHBDL1 | P48T-E | Human | Esophagus | ESCC | 1.96e-03 | 1.84e-01 | 0.0959 |
| 9028 | RHBDL1 | P49T-E | Human | Esophagus | ESCC | 1.33e-04 | 6.61e-01 | 0.1768 |
| 9028 | RHBDL1 | P52T-E | Human | Esophagus | ESCC | 6.23e-03 | 1.24e-01 | 0.1555 |
| 9028 | RHBDL1 | P54T-E | Human | Esophagus | ESCC | 6.22e-04 | 1.01e-01 | 0.0975 |
| 9028 | RHBDL1 | P56T-E | Human | Esophagus | ESCC | 3.74e-04 | 5.31e-01 | 0.1613 |
| 9028 | RHBDL1 | P57T-E | Human | Esophagus | ESCC | 4.82e-04 | 1.89e-01 | 0.0926 |
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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 | ||
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma |
| ∗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 |
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| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| Page: 1 |
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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 |
| RHBDL1 | SNV | Missense_Mutation | rs749227263 | c.1004N>A | p.Arg335Gln | p.R335Q | O75783 | protein_coding | tolerated(0.92) | benign(0) | TCGA-CM-6674-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
| RHBDL1 | SNV | Missense_Mutation | novel | c.235G>A | p.Ala79Thr | p.A79T | O75783 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-F4-6855-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| RHBDL1 | SNV | Missense_Mutation | novel | c.347N>G | p.Glu116Gly | p.E116G | O75783 | protein_coding | deleterious(0.02) | probably_damaging(0.997) | TCGA-QG-A5Z2-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
| RHBDL1 | SNV | Missense_Mutation | novel | c.433N>A | p.Val145Met | p.V145M | O75783 | protein_coding | tolerated(0.05) | probably_damaging(0.941) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| RHBDL1 | SNV | Missense_Mutation | rs772314256 | c.374N>A | p.Arg125His | p.R125H | O75783 | protein_coding | tolerated(0.23) | benign(0.006) | TCGA-AX-A2HA-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| RHBDL1 | SNV | Missense_Mutation | novel | c.650N>C | p.Leu217Pro | p.L217P | O75783 | protein_coding | deleterious(0.04) | benign(0.108) | TCGA-BG-A222-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| RHBDL1 | SNV | Missense_Mutation | c.1016N>A | p.Gly339Asp | p.G339D | O75783 | protein_coding | deleterious(0.01) | benign(0.168) | TCGA-D1-A17U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD | |
| RHBDL1 | SNV | Missense_Mutation | novel | c.398T>C | p.Val133Ala | p.V133A | O75783 | protein_coding | deleterious(0.03) | benign(0.167) | TCGA-EY-A2OM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | taxol | SD |
| RHBDL1 | SNV | Missense_Mutation | novel | c.789G>T | p.Met263Ile | p.M263I | O75783 | protein_coding | deleterious(0.03) | possibly_damaging(0.794) | TCGA-2Y-A9H4-01 | Liver | liver hepatocellular carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
| RHBDL1 | SNV | Missense_Mutation | rs778300183 | c.454C>T | p.Arg152Cys | p.R152C | O75783 | protein_coding | tolerated(0.1) | possibly_damaging(0.646) | TCGA-DD-A113-01 | Liver | liver hepatocellular carcinoma | Female | <65 | I/II | 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 |
| Page: 1 |
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