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Gene: C6orf48 |
Gene summary for C6ORF48 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | C6orf48 | Gene ID | 50854 |
| Gene name | small nucleolar RNA host gene 32 | |
| Gene Alias | C6orf48 | |
| Cytomap | 6p21.33 | |
| Gene Type | ncRNA | GO ID | NA | UniProtAcc | NA |
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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 |
| 50854 | C6orf48 | GSM4909285 | Human | Breast | IDC | 1.35e-26 | 7.03e-01 | 0.21 |
| 50854 | C6orf48 | GSM4909286 | Human | Breast | IDC | 1.30e-14 | 5.45e-01 | 0.1081 |
| 50854 | C6orf48 | GSM4909287 | Human | Breast | IDC | 1.93e-18 | -5.12e-01 | 0.2057 |
| 50854 | C6orf48 | GSM4909288 | Human | Breast | IDC | 2.94e-03 | -4.20e-01 | 0.0988 |
| 50854 | C6orf48 | GSM4909290 | Human | Breast | IDC | 5.45e-03 | -3.21e-01 | 0.2096 |
| 50854 | C6orf48 | GSM4909293 | Human | Breast | IDC | 7.01e-03 | -7.43e-02 | 0.1581 |
| 50854 | C6orf48 | GSM4909294 | Human | Breast | IDC | 9.70e-18 | -3.96e-01 | 0.2022 |
| 50854 | C6orf48 | GSM4909296 | Human | Breast | IDC | 4.00e-16 | 1.67e-01 | 0.1524 |
| 50854 | C6orf48 | GSM4909297 | Human | Breast | IDC | 7.46e-25 | -7.67e-03 | 0.1517 |
| 50854 | C6orf48 | GSM4909302 | Human | Breast | IDC | 2.27e-02 | -2.64e-01 | 0.1545 |
| 50854 | C6orf48 | GSM4909304 | Human | Breast | IDC | 1.72e-25 | -4.76e-01 | 0.1636 |
| 50854 | C6orf48 | GSM4909307 | Human | Breast | IDC | 2.50e-31 | 6.89e-01 | 0.1569 |
| 50854 | C6orf48 | GSM4909308 | Human | Breast | IDC | 2.91e-22 | 6.04e-01 | 0.158 |
| 50854 | C6orf48 | GSM4909309 | Human | Breast | IDC | 1.20e-06 | 2.63e-01 | 0.0483 |
| 50854 | C6orf48 | GSM4909311 | Human | Breast | IDC | 4.54e-43 | -2.66e-01 | 0.1534 |
| 50854 | C6orf48 | GSM4909312 | Human | Breast | IDC | 1.20e-13 | -1.49e-02 | 0.1552 |
| 50854 | C6orf48 | GSM4909315 | Human | Breast | IDC | 1.35e-12 | -3.72e-01 | 0.21 |
| 50854 | C6orf48 | GSM4909316 | Human | Breast | IDC | 3.49e-08 | -5.84e-01 | 0.21 |
| 50854 | C6orf48 | GSM4909317 | Human | Breast | IDC | 7.50e-06 | -3.57e-01 | 0.1355 |
| 50854 | C6orf48 | GSM4909319 | Human | Breast | IDC | 8.64e-53 | -3.51e-01 | 0.1563 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Breast |  | IDC: Invasive ductal carcinoma |
| DCIS: Ductal carcinoma in situ | ||
| Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers | ||
| Colorectum (GSE201348) |  | FAP: Familial adenomatous polyposis |
| CRC: Colorectal cancer | ||
| Colorectum (HTA11) |  | AD: Adenomas |
| SER: Sessile serrated lesions | ||
| MSI-H: Microsatellite-high colorectal cancer | ||
| MSS: Microsatellite stable colorectal cancer | ||
| Endometrium |  | AEH: Atypical endometrial hyperplasia |
| EEC: Endometrioid Cancer | ||
| 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 | ||
| 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 |
| Page: 1 |
| 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 |
| C6orf48 | SNV | Missense_Mutation | novel | c.225N>G | p.Asn75Lys | p.N75K | Q9UBA6 | protein_coding | possibly_damaging(0.525) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| C6orf48 | deletion | Frame_Shift_Del | rs777256427 | c.210delN | p.Met72CysfsTer10 | p.M72Cfs*10 | Q9UBA6 | protein_coding | TCGA-EY-A215-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
| C6orf48 | SNV | Missense_Mutation | c.92C>T | p.Ser31Phe | p.S31F | Q9UBA6 | protein_coding | benign(0.204) | TCGA-49-4514-01 | Lung | lung adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| Page: 1 |
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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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