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Gene: RC3H2 |
Gene summary for RC3H2 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | RC3H2 | Gene ID | 54542 |
| Gene name | ring finger and CCCH-type domains 2 | |
| Gene Alias | MNAB | |
| Cytomap | 9q33.2 | |
| Gene Type | protein-coding | GO ID | GO:0000209 | UniProtAcc | A0A024R899 |
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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 |
| 54542 | RC3H2 | CCI_1 | Human | Cervix | CC | 5.64e-04 | 5.02e-01 | 0.528 |
| 54542 | RC3H2 | CCI_2 | Human | Cervix | CC | 1.93e-10 | 1.16e+00 | 0.5249 |
| 54542 | RC3H2 | CCI_3 | Human | Cervix | CC | 6.11e-09 | 7.17e-01 | 0.516 |
| 54542 | RC3H2 | LZE4T | Human | Esophagus | ESCC | 1.74e-09 | 3.12e-01 | 0.0811 |
| 54542 | RC3H2 | LZE5T | Human | Esophagus | ESCC | 8.16e-05 | 4.14e-01 | 0.0514 |
| 54542 | RC3H2 | LZE7T | Human | Esophagus | ESCC | 2.07e-05 | 4.73e-01 | 0.0667 |
| 54542 | RC3H2 | LZE20T | Human | Esophagus | ESCC | 8.89e-04 | 2.55e-01 | 0.0662 |
| 54542 | RC3H2 | LZE24T | Human | Esophagus | ESCC | 4.15e-18 | 3.79e-01 | 0.0596 |
| 54542 | RC3H2 | LZE21T | Human | Esophagus | ESCC | 1.63e-04 | 2.23e-01 | 0.0655 |
| 54542 | RC3H2 | P1T-E | Human | Esophagus | ESCC | 3.58e-05 | 3.38e-01 | 0.0875 |
| 54542 | RC3H2 | P2T-E | Human | Esophagus | ESCC | 5.18e-25 | 4.76e-01 | 0.1177 |
| 54542 | RC3H2 | P4T-E | Human | Esophagus | ESCC | 5.59e-18 | 3.55e-01 | 0.1323 |
| 54542 | RC3H2 | P5T-E | Human | Esophagus | ESCC | 1.72e-08 | 1.14e-01 | 0.1327 |
| 54542 | RC3H2 | P8T-E | Human | Esophagus | ESCC | 2.04e-16 | 2.48e-01 | 0.0889 |
| 54542 | RC3H2 | P9T-E | Human | Esophagus | ESCC | 1.53e-12 | 2.67e-01 | 0.1131 |
| 54542 | RC3H2 | P10T-E | Human | Esophagus | ESCC | 1.62e-21 | 4.13e-01 | 0.116 |
| 54542 | RC3H2 | P11T-E | Human | Esophagus | ESCC | 4.99e-03 | 3.51e-01 | 0.1426 |
| 54542 | RC3H2 | P12T-E | Human | Esophagus | ESCC | 1.30e-17 | 2.83e-01 | 0.1122 |
| 54542 | RC3H2 | P15T-E | Human | Esophagus | ESCC | 4.59e-10 | 2.99e-01 | 0.1149 |
| 54542 | RC3H2 | P16T-E | Human | Esophagus | ESCC | 1.17e-13 | 1.76e-01 | 0.1153 |
| Page: 1 2 3 4 5 6 |
| 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 | ||
| 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: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: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:19021056 | Cervix | CC | regulation of leukocyte differentiation | 61/2311 | 279/18723 | 5.16e-06 | 1.29e-04 | 61 |
| GO:19021064 | Cervix | CC | negative regulation of leukocyte differentiation | 29/2311 | 102/18723 | 1.02e-05 | 2.29e-04 | 29 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 |
| 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 |
| RC3H2 | SNV | Missense_Mutation | novel | c.464N>A | p.Ala155Asp | p.A155D | Q9HBD1 | protein_coding | deleterious(0) | possibly_damaging(0.72) | TCGA-AC-A8OS-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| RC3H2 | SNV | Missense_Mutation | c.1393G>T | p.Val465Leu | p.V465L | Q9HBD1 | protein_coding | tolerated(0.5) | possibly_damaging(0.785) | TCGA-B6-A0RU-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | PD | |
| RC3H2 | SNV | Missense_Mutation | c.2117A>G | p.Tyr706Cys | p.Y706C | Q9HBD1 | protein_coding | deleterious(0.01) | probably_damaging(0.984) | TCGA-D8-A140-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin+cyclophosphamid | SD | |
| RC3H2 | SNV | Missense_Mutation | novel | c.2009N>T | p.Ser670Phe | p.S670F | Q9HBD1 | protein_coding | tolerated(0.1) | benign(0.445) | TCGA-D8-A27G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| RC3H2 | SNV | Missense_Mutation | c.1768C>G | p.Pro590Ala | p.P590A | Q9HBD1 | protein_coding | deleterious(0.01) | probably_damaging(0.956) | TCGA-E2-A10C-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD | |
| RC3H2 | SNV | Missense_Mutation | c.2123N>A | p.Arg708Gln | p.R708Q | Q9HBD1 | protein_coding | deleterious(0.02) | possibly_damaging(0.885) | TCGA-EW-A1OV-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | epirubicin | SD | |
| RC3H2 | insertion | Nonsense_Mutation | novel | c.2499_2500insCCCAAGTAGCTGGGATTATAGACATGCACCACC | p.Leu833_Ser834insProLysTerLeuGlyLeuTerThrCysThrThr | p.L833_S834insPK*LGL*TCTT | Q9HBD1 | protein_coding | TCGA-A2-A0EX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD | ||
| RC3H2 | SNV | Missense_Mutation | rs370277433 | c.2792N>T | p.Ala931Val | p.A931V | Q9HBD1 | protein_coding | deleterious(0.05) | benign(0.018) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| RC3H2 | SNV | Missense_Mutation | c.2737N>T | p.Arg913Cys | p.R913C | Q9HBD1 | protein_coding | deleterious(0) | probably_damaging(0.973) | TCGA-EA-A50E-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD | |
| RC3H2 | SNV | Missense_Mutation | c.1259N>C | p.Arg420Pro | p.R420P | Q9HBD1 | protein_coding | deleterious(0.01) | possibly_damaging(0.89) | TCGA-IR-A3LA-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 |
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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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