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Gene: RNF216 |
Gene summary for RNF216 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | RNF216 | Gene ID | 54476 |
| Gene name | ring finger protein 216 | |
| Gene Alias | CAHH | |
| Cytomap | 7p22.1 | |
| Gene Type | protein-coding | GO ID | GO:0000209 | UniProtAcc | A8K8N1 |
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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 |
| 54476 | RNF216 | AEH-subject4 | Human | Endometrium | AEH | 5.62e-03 | 2.32e-01 | -0.2657 |
| 54476 | RNF216 | AEH-subject5 | Human | Endometrium | AEH | 2.88e-06 | 2.41e-01 | -0.2953 |
| 54476 | RNF216 | EEC-subject1 | Human | Endometrium | EEC | 1.71e-03 | 1.75e-01 | -0.2682 |
| 54476 | RNF216 | GSM6177620_NYU_UCEC1_lib1_lib1 | Human | Endometrium | EEC | 6.45e-07 | -2.83e-02 | -0.1869 |
| 54476 | RNF216 | GSM6177620_NYU_UCEC1_lib2_lib2 | Human | Endometrium | EEC | 4.54e-04 | -8.48e-02 | -0.1875 |
| 54476 | RNF216 | GSM6177620_NYU_UCEC1_lib3_lib3 | Human | Endometrium | EEC | 1.74e-06 | -8.26e-02 | -0.1883 |
| 54476 | RNF216 | GSM6177621_NYU_UCEC2_lib1_lib1 | Human | Endometrium | EEC | 2.09e-03 | -5.26e-02 | -0.1934 |
| 54476 | RNF216 | GSM6177622_NYU_UCEC3_lib1_lib1 | Human | Endometrium | EEC | 1.88e-14 | -3.08e-02 | -0.1917 |
| 54476 | RNF216 | GSM6177622_NYU_UCEC3_lib2_lib2 | Human | Endometrium | EEC | 4.80e-09 | -3.45e-02 | -0.1916 |
| 54476 | RNF216 | LZE2T | Human | Esophagus | ESCC | 6.95e-08 | 6.36e-01 | 0.082 |
| 54476 | RNF216 | LZE4T | Human | Esophagus | ESCC | 1.22e-11 | 3.47e-01 | 0.0811 |
| 54476 | RNF216 | LZE7T | Human | Esophagus | ESCC | 1.12e-14 | 6.26e-01 | 0.0667 |
| 54476 | RNF216 | LZE8T | Human | Esophagus | ESCC | 3.45e-04 | 1.41e-01 | 0.067 |
| 54476 | RNF216 | LZE22T | Human | Esophagus | ESCC | 1.16e-02 | 1.92e-01 | 0.068 |
| 54476 | RNF216 | LZE24T | Human | Esophagus | ESCC | 4.26e-20 | 3.67e-01 | 0.0596 |
| 54476 | RNF216 | LZE21T | Human | Esophagus | ESCC | 8.94e-03 | 2.17e-01 | 0.0655 |
| 54476 | RNF216 | LZE6T | Human | Esophagus | ESCC | 1.49e-05 | 2.22e-01 | 0.0845 |
| 54476 | RNF216 | P1T-E | Human | Esophagus | ESCC | 1.76e-12 | 4.04e-01 | 0.0875 |
| 54476 | RNF216 | P2T-E | Human | Esophagus | ESCC | 1.06e-41 | 5.37e-01 | 0.1177 |
| 54476 | RNF216 | P4T-E | Human | Esophagus | ESCC | 7.37e-15 | 3.10e-01 | 0.1323 |
| Page: 1 2 3 4 5 6 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| 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 | ||
| 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:001049816 | Endometrium | AEH | proteasomal protein catabolic process | 108/2100 | 490/18723 | 2.73e-12 | 4.67e-10 | 108 |
| GO:004316116 | Endometrium | AEH | proteasome-mediated ubiquitin-dependent protein catabolic process | 88/2100 | 412/18723 | 1.54e-09 | 1.36e-07 | 88 |
| GO:00709367 | Endometrium | AEH | protein K48-linked ubiquitination | 21/2100 | 65/18723 | 4.56e-06 | 1.18e-04 | 21 |
| GO:00096159 | Endometrium | AEH | response to virus | 63/2100 | 367/18723 | 3.81e-04 | 4.10e-03 | 63 |
| GO:00002098 | Endometrium | AEH | protein polyubiquitination | 44/2100 | 236/18723 | 4.83e-04 | 4.97e-03 | 44 |
| GO:001049817 | Endometrium | EEC | proteasomal protein catabolic process | 112/2168 | 490/18723 | 6.99e-13 | 1.40e-10 | 112 |
| GO:004316117 | Endometrium | EEC | proteasome-mediated ubiquitin-dependent protein catabolic process | 92/2168 | 412/18723 | 3.01e-10 | 3.23e-08 | 92 |
| GO:007093614 | Endometrium | EEC | protein K48-linked ubiquitination | 22/2168 | 65/18723 | 1.92e-06 | 5.79e-05 | 22 |
| GO:000961513 | Endometrium | EEC | response to virus | 66/2168 | 367/18723 | 1.78e-04 | 2.20e-03 | 66 |
| GO:000020913 | Endometrium | EEC | protein polyubiquitination | 46/2168 | 236/18723 | 2.65e-04 | 3.04e-03 | 46 |
| GO:0010498111 | Esophagus | ESCC | proteasomal protein catabolic process | 369/8552 | 490/18723 | 1.13e-41 | 1.80e-38 | 369 |
| GO:0043161111 | Esophagus | ESCC | proteasome-mediated ubiquitin-dependent protein catabolic process | 312/8552 | 412/18723 | 3.53e-36 | 4.48e-33 | 312 |
| GO:000020917 | Esophagus | ESCC | protein polyubiquitination | 170/8552 | 236/18723 | 1.40e-16 | 1.09e-14 | 170 |
| GO:000961518 | Esophagus | ESCC | response to virus | 238/8552 | 367/18723 | 6.65e-14 | 3.32e-12 | 238 |
| GO:007093617 | Esophagus | ESCC | protein K48-linked ubiquitination | 55/8552 | 65/18723 | 8.42e-11 | 2.58e-09 | 55 |
| GO:00516075 | Esophagus | ESCC | defense response to virus | 171/8552 | 265/18723 | 3.91e-10 | 1.05e-08 | 171 |
| GO:01405465 | Esophagus | ESCC | defense response to symbiont | 171/8552 | 265/18723 | 3.91e-10 | 1.05e-08 | 171 |
| GO:00028318 | Esophagus | ESCC | regulation of response to biotic stimulus | 191/8552 | 327/18723 | 2.12e-06 | 2.45e-05 | 191 |
| GO:00326084 | Esophagus | ESCC | interferon-beta production | 40/8552 | 56/18723 | 8.36e-05 | 6.08e-04 | 40 |
| GO:00326484 | Esophagus | ESCC | regulation of interferon-beta production | 40/8552 | 56/18723 | 8.36e-05 | 6.08e-04 | 40 |
| Page: 1 2 3 4 5 6 |
| 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 |
| RNF216 | SNV | Missense_Mutation | novel | c.2129N>C | p.Glu710Ala | p.E710A | Q9NWF9 | protein_coding | deleterious(0) | probably_damaging(0.959) | TCGA-A2-A0ER-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
| RNF216 | SNV | Missense_Mutation | c.1771N>T | p.His591Tyr | p.H591Y | Q9NWF9 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-A8-A0A7-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| RNF216 | SNV | Missense_Mutation | novel | c.1430N>T | p.Pro477Leu | p.P477L | Q9NWF9 | protein_coding | deleterious(0.03) | probably_damaging(0.927) | TCGA-BH-A0WA-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| RNF216 | SNV | Missense_Mutation | novel | c.2725N>A | p.His909Asn | p.H909N | Q9NWF9 | protein_coding | deleterious(0.02) | possibly_damaging(0.889) | TCGA-E9-A1R6-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
| RNF216 | SNV | Missense_Mutation | c.1165N>C | p.Glu389Gln | p.E389Q | Q9NWF9 | protein_coding | deleterious(0.04) | probably_damaging(0.973) | TCGA-GM-A2DH-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxol | CR | |
| RNF216 | insertion | Nonsense_Mutation | novel | c.2127_2128insTTCTCTTCTCTCATAACAATCTAGCCTTACCATGCA | p.Ala709_Glu710insPheSerSerLeuIleThrIleTerProTyrHisAla | p.A709_E710insFSSLITI*PYHA | Q9NWF9 | protein_coding | TCGA-A2-A0ER-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD | ||
| RNF216 | insertion | In_Frame_Ins | novel | c.683_684insTCTTAC | p.Cys228_Trp229insLeuThr | p.C228_W229insLT | Q9NWF9 | protein_coding | TCGA-A8-A06P-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unspecific | SD | |||
| RNF216 | insertion | Nonsense_Mutation | novel | c.682_683insAGCTCCTTGTGGCTGTTTACATTTAAAT | p.Cys228Ter | p.C228* | Q9NWF9 | protein_coding | TCGA-A8-A06P-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unspecific | SD | |||
| RNF216 | insertion | Nonsense_Mutation | novel | c.2180_2181insTAACAGCCACCCCTAATAATCAAATAAATGGAAATGAAAAT | p.Arg728AsnfsTer5 | p.R728Nfs*5 | Q9NWF9 | protein_coding | TCGA-AN-A041-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
| RNF216 | deletion | Frame_Shift_Del | novel | c.927delN | p.Glu310SerfsTer27 | p.E310Sfs*27 | Q9NWF9 | protein_coding | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
| Page: 1 2 3 4 5 6 7 8 9 10 |
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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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