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Gene: RC3H1 |
Gene summary for RC3H1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | RC3H1 | Gene ID | 149041 |
| Gene name | ring finger and CCCH-type domains 1 | |
| Gene Alias | FHL6 | |
| Cytomap | 1q25.1 | |
| Gene Type | protein-coding | GO ID | GO:0000209 | UniProtAcc | B9EGU6 |
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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 |
| 149041 | RC3H1 | CA_HPV_1 | Human | Cervix | CC | 4.80e-02 | -7.35e-03 | 0.0264 |
| 149041 | RC3H1 | CCI_1 | Human | Cervix | CC | 2.08e-12 | 1.22e+00 | 0.528 |
| 149041 | RC3H1 | CCI_2 | Human | Cervix | CC | 2.41e-09 | 9.53e-01 | 0.5249 |
| 149041 | RC3H1 | CCI_3 | Human | Cervix | CC | 8.67e-12 | 9.03e-01 | 0.516 |
| 149041 | RC3H1 | HTA11_3410_2000001011 | Human | Colorectum | AD | 3.83e-17 | -6.36e-01 | 0.0155 |
| 149041 | RC3H1 | HTA11_99999970781_79442 | Human | Colorectum | MSS | 9.30e-12 | -4.42e-01 | 0.294 |
| 149041 | RC3H1 | HTA11_99999973899_84307 | Human | Colorectum | MSS | 7.83e-04 | -5.65e-01 | 0.2585 |
| 149041 | RC3H1 | HTA11_99999974143_84620 | Human | Colorectum | MSS | 7.46e-16 | -5.56e-01 | 0.3005 |
| 149041 | RC3H1 | F007 | Human | Colorectum | FAP | 6.07e-05 | -2.96e-01 | 0.1176 |
| 149041 | RC3H1 | A001-C-207 | Human | Colorectum | FAP | 1.08e-05 | -3.27e-01 | 0.1278 |
| 149041 | RC3H1 | A015-C-203 | Human | Colorectum | FAP | 1.73e-28 | -3.71e-01 | -0.1294 |
| 149041 | RC3H1 | A015-C-204 | Human | Colorectum | FAP | 2.74e-08 | -3.16e-01 | -0.0228 |
| 149041 | RC3H1 | A014-C-040 | Human | Colorectum | FAP | 1.21e-04 | -3.11e-01 | -0.1184 |
| 149041 | RC3H1 | A002-C-201 | Human | Colorectum | FAP | 1.73e-15 | -3.10e-01 | 0.0324 |
| 149041 | RC3H1 | A002-C-203 | Human | Colorectum | FAP | 4.03e-08 | -2.10e-01 | 0.2786 |
| 149041 | RC3H1 | A001-C-119 | Human | Colorectum | FAP | 7.41e-07 | -1.97e-01 | -0.1557 |
| 149041 | RC3H1 | A001-C-108 | Human | Colorectum | FAP | 3.76e-17 | -3.29e-01 | -0.0272 |
| 149041 | RC3H1 | A002-C-205 | Human | Colorectum | FAP | 8.16e-25 | -3.58e-01 | -0.1236 |
| 149041 | RC3H1 | A015-C-005 | Human | Colorectum | FAP | 5.83e-06 | -2.42e-01 | -0.0336 |
| 149041 | RC3H1 | A015-C-006 | Human | Colorectum | FAP | 2.94e-18 | -5.39e-01 | -0.0994 |
| Page: 1 2 3 4 5 6 7 8 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Cervix |  | CC: Cervix cancer |
| HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions | ||
| N_HPV: HPV-infected normal cervix | ||
| 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 | ||
| Lung |  | AAH: Atypical adenomatous hyperplasia |
| AIS: Adenocarcinoma in situ | ||
| IAC: Invasive lung adenocarcinoma | ||
| MIA: Minimally invasive adenocarcinoma | ||
| Prostate |  | BPH: Benign Prostatic Hyperplasia |
| 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:002240710 | Cervix | CC | regulation of cell-cell adhesion | 103/2311 | 448/18723 | 1.78e-10 | 2.87e-08 | 103 |
| GO:000989610 | Cervix | CC | positive regulation of catabolic process | 109/2311 | 492/18723 | 5.26e-10 | 6.99e-08 | 109 |
| GO:00421108 | Cervix | CC | T cell activation | 107/2311 | 487/18723 | 1.24e-09 | 1.46e-07 | 107 |
| GO:00508638 | Cervix | CC | regulation of T cell activation | 80/2311 | 329/18723 | 1.28e-09 | 1.47e-07 | 80 |
| GO:00071598 | Cervix | CC | leukocyte cell-cell adhesion | 85/2311 | 371/18723 | 8.27e-09 | 7.07e-07 | 85 |
| GO:00071626 | Cervix | CC | negative regulation of cell adhesion | 72/2311 | 303/18723 | 2.36e-08 | 1.70e-06 | 72 |
| GO:00026837 | Cervix | CC | negative regulation of immune system process | 94/2311 | 434/18723 | 2.63e-08 | 1.87e-06 | 94 |
| GO:19030378 | Cervix | CC | regulation of leukocyte cell-cell adhesion | 77/2311 | 336/18723 | 4.08e-08 | 2.54e-06 | 77 |
| GO:003133110 | Cervix | CC | positive regulation of cellular catabolic process | 91/2311 | 427/18723 | 9.64e-08 | 5.25e-06 | 91 |
| GO:00027644 | Cervix | CC | immune response-regulating signaling pathway | 97/2311 | 468/18723 | 1.49e-07 | 7.07e-06 | 97 |
| GO:00002097 | Cervix | CC | protein polyubiquitination | 58/2311 | 236/18723 | 1.57e-07 | 7.41e-06 | 58 |
| GO:190370610 | Cervix | CC | regulation of hemopoiesis | 80/2311 | 367/18723 | 2.14e-07 | 9.55e-06 | 80 |
| GO:00064029 | Cervix | CC | mRNA catabolic process | 56/2311 | 232/18723 | 4.81e-07 | 1.83e-05 | 56 |
| GO:00420988 | Cervix | CC | T cell proliferation | 49/2311 | 199/18723 | 1.32e-06 | 4.49e-05 | 49 |
| GO:19001517 | Cervix | CC | regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay | 11/2311 | 18/18723 | 1.37e-06 | 4.55e-05 | 11 |
| GO:19033119 | Cervix | CC | regulation of mRNA metabolic process | 64/2311 | 288/18723 | 1.71e-06 | 5.64e-05 | 64 |
| GO:00224084 | Cervix | CC | negative regulation of cell-cell adhesion | 48/2311 | 196/18723 | 1.99e-06 | 6.18e-05 | 48 |
| GO:004887210 | Cervix | CC | homeostasis of number of cells | 61/2311 | 272/18723 | 2.17e-06 | 6.55e-05 | 61 |
| GO:00064019 | Cervix | CC | RNA catabolic process | 62/2311 | 278/18723 | 2.18e-06 | 6.56e-05 | 62 |
| GO:00421297 | Cervix | CC | regulation of T cell proliferation | 43/2311 | 171/18723 | 3.21e-06 | 8.77e-05 | 43 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 |
| 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 |
| RC3H1 | SNV | Missense_Mutation | c.2156N>G | p.Tyr719Cys | p.Y719C | Q5TC82 | protein_coding | tolerated(0.14) | benign(0.005) | TCGA-A8-A06T-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | anastrozole | SD | |
| RC3H1 | SNV | Missense_Mutation | c.1324N>A | p.Glu442Lys | p.E442K | Q5TC82 | protein_coding | deleterious(0) | possibly_damaging(0.824) | TCGA-A8-A08B-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR | |
| RC3H1 | SNV | Missense_Mutation | c.2083G>A | p.Glu695Lys | p.E695K | Q5TC82 | protein_coding | deleterious(0.01) | benign(0.021) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
| RC3H1 | SNV | Missense_Mutation | c.392G>A | p.Arg131His | p.R131H | Q5TC82 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| RC3H1 | SNV | Missense_Mutation | novel | c.1426N>G | p.Ile476Val | p.I476V | Q5TC82 | protein_coding | tolerated(1) | benign(0.028) | TCGA-AO-A03O-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | doxorubicin | SD |
| RC3H1 | SNV | Missense_Mutation | c.937N>G | p.His313Asp | p.H313D | Q5TC82 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-BH-A0HP-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | doxorubicin | SD | |
| RC3H1 | SNV | Missense_Mutation | c.26N>A | p.Thr9Lys | p.T9K | Q5TC82 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-D8-A1XK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine+cyclophosphamide | SD | |
| RC3H1 | SNV | Missense_Mutation | c.2668T>C | p.Tyr890His | p.Y890H | Q5TC82 | protein_coding | deleterious(0) | possibly_damaging(0.897) | TCGA-D8-A1XQ-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| RC3H1 | SNV | Missense_Mutation | c.1825N>G | p.Gln609Glu | p.Q609E | Q5TC82 | protein_coding | tolerated(0.56) | benign(0.005) | TCGA-E2-A1LA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | SD | |
| RC3H1 | SNV | Missense_Mutation | c.835C>G | p.Leu279Val | p.L279V | Q5TC82 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-E9-A1NC-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | CR |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 |
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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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