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Gene: R3HCC1 |
Gene summary for R3HCC1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | R3HCC1 | Gene ID | 203069 |
| Gene name | R3H domain and coiled-coil containing 1 | |
| Gene Alias | R3HCC1 | |
| Cytomap | 8p21.3 | |
| Gene Type | protein-coding | GO ID | GO:0003674 | UniProtAcc | Q9Y3T6 |
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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 |
| 203069 | R3HCC1 | P128T-E | Human | Esophagus | ESCC | 3.95e-30 | 7.99e-01 | 0.1241 |
| 203069 | R3HCC1 | P130T-E | Human | Esophagus | ESCC | 4.01e-35 | 6.09e-01 | 0.1676 |
| 203069 | R3HCC1 | C04 | Human | Oral cavity | OSCC | 5.73e-08 | 5.78e-01 | 0.2633 |
| 203069 | R3HCC1 | C21 | Human | Oral cavity | OSCC | 1.61e-41 | 1.19e+00 | 0.2678 |
| 203069 | R3HCC1 | C30 | Human | Oral cavity | OSCC | 7.41e-26 | 1.09e+00 | 0.3055 |
| 203069 | R3HCC1 | C38 | Human | Oral cavity | OSCC | 1.22e-08 | 7.74e-01 | 0.172 |
| 203069 | R3HCC1 | C43 | Human | Oral cavity | OSCC | 2.58e-16 | 3.33e-01 | 0.1704 |
| 203069 | R3HCC1 | C46 | Human | Oral cavity | OSCC | 1.49e-21 | 5.13e-01 | 0.1673 |
| 203069 | R3HCC1 | C51 | Human | Oral cavity | OSCC | 8.98e-10 | 5.03e-01 | 0.2674 |
| 203069 | R3HCC1 | C57 | Human | Oral cavity | OSCC | 1.60e-11 | 4.98e-01 | 0.1679 |
| 203069 | R3HCC1 | C08 | Human | Oral cavity | OSCC | 1.19e-18 | 4.18e-01 | 0.1919 |
| 203069 | R3HCC1 | C09 | Human | Oral cavity | OSCC | 3.73e-05 | 1.98e-01 | 0.1431 |
| 203069 | R3HCC1 | LN22 | Human | Oral cavity | OSCC | 2.18e-03 | 5.67e-01 | 0.1733 |
| 203069 | R3HCC1 | LN46 | Human | Oral cavity | OSCC | 1.57e-14 | 6.44e-01 | 0.1666 |
| 203069 | R3HCC1 | LP17 | Human | Oral cavity | LP | 2.58e-02 | 6.12e-01 | 0.2349 |
| 203069 | R3HCC1 | SYSMH1 | Human | Oral cavity | OSCC | 1.15e-02 | 1.40e-01 | 0.1127 |
| 203069 | R3HCC1 | SYSMH2 | Human | Oral cavity | OSCC | 3.65e-03 | 1.38e-01 | 0.2326 |
| 203069 | R3HCC1 | SYSMH3 | Human | Oral cavity | OSCC | 1.88e-06 | 1.74e-01 | 0.2442 |
| 203069 | R3HCC1 | SYSMH6 | Human | Oral cavity | OSCC | 1.19e-03 | 1.77e-01 | 0.1275 |
| 203069 | R3HCC1 | P4_S8_cSCC | Human | Skin | cSCC | 4.68e-02 | 8.89e-02 | -0.3095 |
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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 | ||
| 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 |
| ∗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 |
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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 |
| R3HCC1 | SNV | Missense_Mutation | novel | c.1029N>T | p.Glu343Asp | p.E343D | protein_coding | tolerated(0.11) | benign(0.07) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| R3HCC1 | insertion | Frame_Shift_Ins | novel | c.934_935insTGGGTTCAGTTGGGAGGGTGGCATCTTTTATGGCTATTTTATACAT | p.Gly312ValfsTer28 | p.G312Vfs*28 | protein_coding | TCGA-B6-A0IN-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | PD | |||
| R3HCC1 | SNV | Missense_Mutation | novel | c.260N>T | p.Ser87Leu | p.S87L | protein_coding | tolerated(0.16) | benign(0.165) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
| R3HCC1 | SNV | Missense_Mutation | rs758791727 | c.955N>A | p.Val319Met | p.V319M | protein_coding | deleterious(0) | probably_damaging(0.931) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
| R3HCC1 | SNV | Missense_Mutation | c.935N>C | p.Gly312Ala | p.G312A | protein_coding | tolerated(0.06) | benign(0.019) | TCGA-IR-A3LH-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | ||
| R3HCC1 | SNV | Missense_Mutation | rs375081566 | c.1066G>A | p.Ala356Thr | p.A356T | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-AM-5821-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| R3HCC1 | SNV | Missense_Mutation | rs772503867 | c.1202N>A | p.Arg401His | p.R401H | protein_coding | tolerated(0.82) | benign(0.001) | TCGA-AY-6197-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
| R3HCC1 | SNV | Missense_Mutation | rs375081566 | c.1066N>A | p.Ala356Thr | p.A356T | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-CK-5913-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| R3HCC1 | SNV | Missense_Mutation | rs375766658 | c.784N>A | p.Glu262Lys | p.E262K | protein_coding | tolerated(0.11) | benign(0.005) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD | |
| R3HCC1 | SNV | Missense_Mutation | novel | c.143T>A | p.Leu48His | p.L48H | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | 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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