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Gene: MRPL48 |
Gene summary for MRPL48 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | MRPL48 | Gene ID | 51642 |
| Gene name | mitochondrial ribosomal protein L48 | |
| Gene Alias | CGI-118 | |
| Cytomap | 11q13.4 | |
| Gene Type | protein-coding | GO ID | GO:0000313 | UniProtAcc | Q96GC5 |
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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 |
| 51642 | MRPL48 | LZE4T | Human | Esophagus | ESCC | 5.99e-06 | 1.98e-01 | 0.0811 |
| 51642 | MRPL48 | LZE7T | Human | Esophagus | ESCC | 3.99e-06 | 1.92e-01 | 0.0667 |
| 51642 | MRPL48 | LZE8T | Human | Esophagus | ESCC | 2.30e-02 | 8.67e-02 | 0.067 |
| 51642 | MRPL48 | LZE20T | Human | Esophagus | ESCC | 1.02e-07 | 3.63e-01 | 0.0662 |
| 51642 | MRPL48 | LZE22D1 | Human | Esophagus | HGIN | 3.84e-04 | 4.42e-01 | 0.0595 |
| 51642 | MRPL48 | LZE22T | Human | Esophagus | ESCC | 1.39e-05 | 7.64e-01 | 0.068 |
| 51642 | MRPL48 | LZE24T | Human | Esophagus | ESCC | 4.47e-08 | 2.63e-01 | 0.0596 |
| 51642 | MRPL48 | LZE6T | Human | Esophagus | ESCC | 7.04e-05 | 2.34e-01 | 0.0845 |
| 51642 | MRPL48 | P1T-E | Human | Esophagus | ESCC | 6.48e-03 | 1.31e-01 | 0.0875 |
| 51642 | MRPL48 | P2T-E | Human | Esophagus | ESCC | 8.81e-67 | 1.31e+00 | 0.1177 |
| 51642 | MRPL48 | P4T-E | Human | Esophagus | ESCC | 1.20e-46 | 1.09e+00 | 0.1323 |
| 51642 | MRPL48 | P5T-E | Human | Esophagus | ESCC | 5.45e-21 | 3.39e-01 | 0.1327 |
| 51642 | MRPL48 | P8T-E | Human | Esophagus | ESCC | 1.44e-22 | 4.82e-01 | 0.0889 |
| 51642 | MRPL48 | P9T-E | Human | Esophagus | ESCC | 5.32e-18 | 4.09e-01 | 0.1131 |
| 51642 | MRPL48 | P10T-E | Human | Esophagus | ESCC | 6.99e-26 | 5.21e-01 | 0.116 |
| 51642 | MRPL48 | P11T-E | Human | Esophagus | ESCC | 3.04e-10 | 5.16e-01 | 0.1426 |
| 51642 | MRPL48 | P12T-E | Human | Esophagus | ESCC | 1.73e-21 | 3.58e-01 | 0.1122 |
| 51642 | MRPL48 | P15T-E | Human | Esophagus | ESCC | 6.52e-18 | 4.34e-01 | 0.1149 |
| 51642 | MRPL48 | P16T-E | Human | Esophagus | ESCC | 1.03e-41 | 7.28e-01 | 0.1153 |
| 51642 | MRPL48 | P17T-E | Human | Esophagus | ESCC | 7.61e-14 | 6.23e-01 | 0.1278 |
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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 | ||
| Prostate |  | BPH: Benign Prostatic Hyperplasia |
| Skin |  | AK: Actinic keratosis |
| cSCC: Cutaneous squamous cell carcinoma | ||
| SCCIS:squamous cell carcinoma in situ |
| ∗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 |
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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 |
| MRPL48 | SNV | Missense_Mutation | novel | c.329N>C | p.Val110Ala | p.V110A | Q96GC5 | protein_coding | tolerated(0.07) | possibly_damaging(0.672) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| MRPL48 | SNV | Missense_Mutation | c.518N>A | p.Ile173Lys | p.I173K | Q96GC5 | protein_coding | deleterious(0) | probably_damaging(0.951) | TCGA-AO-A0J6-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD | |
| MRPL48 | SNV | Missense_Mutation | novel | c.196N>A | p.Glu66Lys | p.E66K | Q96GC5 | protein_coding | tolerated(0.07) | benign(0.054) | TCGA-BH-A2L8-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | CR |
| MRPL48 | SNV | Missense_Mutation | novel | c.337N>G | p.Leu113Val | p.L113V | Q96GC5 | protein_coding | deleterious(0) | possibly_damaging(0.87) | TCGA-EW-A3U0-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | CR |
| MRPL48 | SNV | Missense_Mutation | novel | c.434N>C | p.Leu145Pro | p.L145P | Q96GC5 | protein_coding | tolerated(0.18) | benign(0.329) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| MRPL48 | SNV | Missense_Mutation | novel | c.397N>C | p.Glu133Gln | p.E133Q | Q96GC5 | protein_coding | deleterious(0.01) | probably_damaging(0.986) | TCGA-VS-A8EL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| MRPL48 | SNV | Missense_Mutation | rs780130166 | c.164N>A | p.Gly55Asp | p.G55D | Q96GC5 | protein_coding | deleterious(0.01) | probably_damaging(0.951) | TCGA-AD-6889-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Chemotherapy | xeloda | PD |
| MRPL48 | SNV | Missense_Mutation | c.532C>A | p.Leu178Ile | p.L178I | Q96GC5 | protein_coding | tolerated(0.33) | probably_damaging(0.915) | TCGA-CA-6718-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | PD | |
| MRPL48 | deletion | Frame_Shift_Del | novel | c.47delN | p.Phe17LeufsTer8 | p.F17Lfs*8 | Q96GC5 | protein_coding | TCGA-5M-AAT6-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Unknown | Unknown | PD | ||
| MRPL48 | SNV | Missense_Mutation | c.180G>T | p.Lys60Asn | p.K60N | Q96GC5 | protein_coding | deleterious(0) | possibly_damaging(0.791) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
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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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