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Gene: RCC1 |
Gene summary for RCC1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | RCC1 | Gene ID | 1104 |
| Gene name | regulator of chromosome condensation 1 | |
| Gene Alias | CHC1 | |
| Cytomap | 1p35.3 | |
| Gene Type | protein-coding | GO ID | GO:0000082 | UniProtAcc | A0A0S2Z404 |
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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 |
| 1104 | RCC1 | C09 | Human | Oral cavity | OSCC | 3.50e-03 | 2.15e-01 | 0.1431 |
| 1104 | RCC1 | LN22 | Human | Oral cavity | OSCC | 1.61e-05 | 5.79e-01 | 0.1733 |
| 1104 | RCC1 | LN46 | Human | Oral cavity | OSCC | 8.76e-11 | 4.71e-01 | 0.1666 |
| 1104 | RCC1 | LP15 | Human | Oral cavity | LP | 1.51e-03 | 7.32e-01 | 0.2174 |
| 1104 | RCC1 | LP17 | Human | Oral cavity | LP | 7.68e-05 | 5.71e-01 | 0.2349 |
| 1104 | RCC1 | SYSMH2 | Human | Oral cavity | OSCC | 4.13e-10 | 3.53e-01 | 0.2326 |
| 1104 | RCC1 | SYSMH3 | Human | Oral cavity | OSCC | 2.22e-27 | 7.06e-01 | 0.2442 |
| 1104 | RCC1 | P1_cSCC | Human | Skin | cSCC | 1.54e-13 | 5.34e-01 | 0.0292 |
| 1104 | RCC1 | P2_cSCC | Human | Skin | cSCC | 3.97e-11 | 4.01e-01 | -0.024 |
| 1104 | RCC1 | P4_cSCC | Human | Skin | cSCC | 5.02e-15 | 4.06e-01 | -0.00290000000000005 |
| 1104 | RCC1 | P10_cSCC | Human | Skin | cSCC | 8.81e-13 | 4.89e-01 | 0.1017 |
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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 | ||
| 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 |
| ∗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:004217610 | Cervix | CC | regulation of protein catabolic process | 104/2311 | 391/18723 | 9.39e-15 | 9.36e-12 | 104 |
| GO:190336210 | Cervix | CC | regulation of cellular protein catabolic process | 72/2311 | 255/18723 | 5.98e-12 | 2.10e-09 | 72 |
| GO:001049810 | Cervix | CC | proteasomal protein catabolic process | 111/2311 | 490/18723 | 8.98e-11 | 1.58e-08 | 111 |
| GO:190305010 | Cervix | CC | regulation of proteolysis involved in cellular protein catabolic process | 60/2311 | 221/18723 | 1.82e-09 | 1.98e-07 | 60 |
| GO:200005810 | Cervix | CC | regulation of ubiquitin-dependent protein catabolic process | 47/2311 | 164/18723 | 1.63e-08 | 1.25e-06 | 47 |
| GO:004316110 | Cervix | CC | proteasome-mediated ubiquitin-dependent protein catabolic process | 91/2311 | 412/18723 | 1.65e-08 | 1.25e-06 | 91 |
| GO:004586110 | Cervix | CC | negative regulation of proteolysis | 80/2311 | 351/18723 | 2.88e-08 | 1.98e-06 | 80 |
| GO:003133010 | Cervix | CC | negative regulation of cellular catabolic process | 63/2311 | 262/18723 | 1.10e-07 | 5.68e-06 | 63 |
| GO:006113610 | Cervix | CC | regulation of proteasomal protein catabolic process | 48/2311 | 187/18723 | 4.63e-07 | 1.77e-05 | 48 |
| GO:003243410 | Cervix | CC | regulation of proteasomal ubiquitin-dependent protein catabolic process | 38/2311 | 134/18723 | 4.99e-07 | 1.88e-05 | 38 |
| GO:00614588 | Cervix | CC | reproductive system development | 87/2311 | 427/18723 | 1.37e-06 | 4.55e-05 | 87 |
| GO:00486088 | Cervix | CC | reproductive structure development | 86/2311 | 424/18723 | 1.90e-06 | 5.97e-05 | 86 |
| GO:000989510 | Cervix | CC | negative regulation of catabolic process | 69/2311 | 320/18723 | 2.15e-06 | 6.55e-05 | 69 |
| GO:19033639 | Cervix | CC | negative regulation of cellular protein catabolic process | 24/2311 | 75/18723 | 6.43e-06 | 1.55e-04 | 24 |
| GO:19016538 | Cervix | CC | cellular response to peptide | 72/2311 | 359/18723 | 1.89e-05 | 3.48e-04 | 72 |
| GO:004873210 | Cervix | CC | gland development | 84/2311 | 436/18723 | 1.93e-05 | 3.54e-04 | 84 |
| GO:00063257 | Cervix | CC | chromatin organization | 78/2311 | 409/18723 | 5.40e-05 | 8.02e-04 | 78 |
| GO:19030519 | Cervix | CC | negative regulation of proteolysis involved in cellular protein catabolic process | 20/2311 | 64/18723 | 5.44e-05 | 8.04e-04 | 20 |
| GO:002241110 | Cervix | CC | cellular component disassembly | 83/2311 | 443/18723 | 6.04e-05 | 8.68e-04 | 83 |
| GO:004217710 | Cervix | CC | negative regulation of protein catabolic process | 30/2311 | 121/18723 | 1.23e-04 | 1.53e-03 | 30 |
| 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 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 69 70 71 72 73 74 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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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 |
| RCC1 | insertion | Frame_Shift_Ins | novel | c.781_782insTACTC | p.Met261IlefsTer4 | p.M261Ifs*4 | P18754 | protein_coding | TCGA-AO-A0JD-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | SD | ||
| RCC1 | insertion | Frame_Shift_Ins | novel | c.783_784insAACATAGTTTCTTCATCACTAAGTCTACCTAC | p.Leu262AsnfsTer12 | p.L262Nfs*12 | P18754 | protein_coding | TCGA-AO-A0JD-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | SD | ||
| RCC1 | SNV | Missense_Mutation | novel | c.98N>A | p.Arg33His | p.R33H | P18754 | protein_coding | tolerated(0.24) | benign(0.182) | TCGA-A6-3809-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| RCC1 | SNV | Missense_Mutation | c.1051N>T | p.Arg351Trp | p.R351W | P18754 | protein_coding | deleterious(0.02) | probably_damaging(0.997) | TCGA-AA-3715-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD | |
| RCC1 | SNV | Missense_Mutation | rs528320406 | c.743G>A | p.Arg248Gln | p.R248Q | P18754 | protein_coding | deleterious(0) | possibly_damaging(0.607) | TCGA-AA-3864-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
| RCC1 | SNV | Missense_Mutation | rs760969624 | c.1186C>T | p.Arg396Cys | p.R396C | P18754 | protein_coding | tolerated(0.12) | benign(0.025) | TCGA-G4-6309-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Chemotherapy | xeloda | PD |
| RCC1 | SNV | Missense_Mutation | rs745611564 | c.1025C>T | p.Ser342Leu | p.S342L | P18754 | protein_coding | deleterious(0.05) | benign(0.147) | TCGA-AG-A002-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
| RCC1 | deletion | Frame_Shift_Del | c.32delN | p.Pro13GlnfsTer11 | p.P13Qfs*11 | P18754 | protein_coding | TCGA-AA-3492-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |||
| RCC1 | deletion | Frame_Shift_Del | c.32delN | p.Pro13GlnfsTer11 | p.P13Qfs*11 | P18754 | protein_coding | TCGA-AA-3663-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |||
| RCC1 | deletion | Frame_Shift_Del | c.38delC | p.Pro13GlnfsTer11 | p.P13Qfs*11 | P18754 | protein_coding | TCGA-AA-3710-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| Page: 1 2 3 4 5 |
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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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