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Gene: CCDC80 |
Gene summary for CCDC80 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | CCDC80 | Gene ID | 151887 |
| Gene name | coiled-coil domain containing 80 | |
| Gene Alias | CL2 | |
| Cytomap | 3q13.2 | |
| Gene Type | protein-coding | GO ID | GO:0007155 | UniProtAcc | Q76M96 |
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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 |
| 151887 | CCDC80 | CCI_3 | Human | Cervix | CC | 1.31e-07 | 9.35e-01 | 0.516 |
| 151887 | CCDC80 | sample1 | Human | Cervix | CC | 1.02e-05 | 5.90e-01 | 0.0959 |
| 151887 | CCDC80 | T1 | Human | Cervix | CC | 8.77e-17 | 7.38e-01 | 0.0918 |
| 151887 | CCDC80 | LZE20T | Human | Esophagus | ESCC | 9.81e-03 | 2.05e-01 | 0.0662 |
| 151887 | CCDC80 | P5T-E | Human | Esophagus | ESCC | 2.29e-14 | 9.79e-01 | 0.1327 |
| 151887 | CCDC80 | P8T-E | Human | Esophagus | ESCC | 2.66e-31 | 1.02e+00 | 0.0889 |
| 151887 | CCDC80 | P9T-E | Human | Esophagus | ESCC | 1.38e-10 | 1.78e+00 | 0.1131 |
| 151887 | CCDC80 | P28T-E | Human | Esophagus | ESCC | 1.95e-02 | -1.88e-01 | 0.1149 |
| 151887 | CCDC80 | P32T-E | Human | Esophagus | ESCC | 2.13e-03 | 4.81e-01 | 0.1666 |
| 151887 | CCDC80 | P37T-E | Human | Esophagus | ESCC | 1.73e-12 | 3.93e-01 | 0.1371 |
| 151887 | CCDC80 | P44T-E | Human | Esophagus | ESCC | 4.50e-02 | 1.05e+00 | 0.1096 |
| 151887 | CCDC80 | P47T-E | Human | Esophagus | ESCC | 6.69e-07 | 6.24e-01 | 0.1067 |
| 151887 | CCDC80 | P48T-E | Human | Esophagus | ESCC | 1.69e-03 | -8.14e-02 | 0.0959 |
| 151887 | CCDC80 | P56T-E | Human | Esophagus | ESCC | 3.83e-02 | 3.25e-01 | 0.1613 |
| 151887 | CCDC80 | P61T-E | Human | Esophagus | ESCC | 1.53e-03 | 4.70e-01 | 0.099 |
| 151887 | CCDC80 | P79T-E | Human | Esophagus | ESCC | 2.67e-07 | 3.65e-01 | 0.1154 |
| 151887 | CCDC80 | P127T-E | Human | Esophagus | ESCC | 2.14e-03 | 3.76e-01 | 0.0826 |
| 151887 | CCDC80 | P128T-E | Human | Esophagus | ESCC | 1.44e-12 | 1.97e+00 | 0.1241 |
| 151887 | CCDC80 | C04 | Human | Oral cavity | OSCC | 8.32e-19 | 1.34e+00 | 0.2633 |
| 151887 | CCDC80 | C21 | Human | Oral cavity | OSCC | 1.28e-08 | 7.19e-01 | 0.2678 |
| Page: 1 2 3 4 |
| 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 | ||
| 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:001081010 | Cervix | CC | regulation of cell-substrate adhesion | 69/2311 | 221/18723 | 8.57e-14 | 5.69e-11 | 69 |
| GO:00315898 | Cervix | CC | cell-substrate adhesion | 96/2311 | 363/18723 | 1.48e-13 | 8.85e-11 | 96 |
| GO:004578510 | Cervix | CC | positive regulation of cell adhesion | 101/2311 | 437/18723 | 1.96e-10 | 3.08e-08 | 101 |
| GO:001081110 | Cervix | CC | positive regulation of cell-substrate adhesion | 34/2311 | 123/18723 | 3.66e-06 | 9.68e-05 | 34 |
| GO:0030198 | Cervix | CC | extracellular matrix organization | 52/2311 | 301/18723 | 7.43e-03 | 3.98e-02 | 52 |
| GO:0043062 | Cervix | CC | extracellular structure organization | 52/2311 | 302/18723 | 7.92e-03 | 4.17e-02 | 52 |
| GO:0045229 | Cervix | CC | external encapsulating structure organization | 52/2311 | 304/18723 | 9.00e-03 | 4.57e-02 | 52 |
| GO:003158919 | Esophagus | ESCC | cell-substrate adhesion | 221/8552 | 363/18723 | 3.06e-09 | 6.62e-08 | 221 |
| GO:001081020 | Esophagus | ESCC | regulation of cell-substrate adhesion | 144/8552 | 221/18723 | 3.55e-09 | 7.45e-08 | 144 |
| GO:004578527 | Esophagus | ESCC | positive regulation of cell adhesion | 255/8552 | 437/18723 | 5.07e-08 | 9.11e-07 | 255 |
| GO:001081126 | Esophagus | ESCC | positive regulation of cell-substrate adhesion | 84/8552 | 123/18723 | 3.18e-07 | 4.50e-06 | 84 |
| GO:00301984 | Esophagus | ESCC | extracellular matrix organization | 171/8552 | 301/18723 | 6.08e-05 | 4.67e-04 | 171 |
| GO:00430624 | Esophagus | ESCC | extracellular structure organization | 171/8552 | 302/18723 | 7.73e-05 | 5.76e-04 | 171 |
| GO:00452294 | Esophagus | ESCC | external encapsulating structure organization | 172/8552 | 304/18723 | 7.80e-05 | 5.80e-04 | 172 |
| GO:003158917 | Oral cavity | OSCC | cell-substrate adhesion | 193/7305 | 363/18723 | 2.48e-08 | 4.82e-07 | 193 |
| GO:001081019 | Oral cavity | OSCC | regulation of cell-substrate adhesion | 126/7305 | 221/18723 | 4.02e-08 | 7.55e-07 | 126 |
| GO:004578520 | Oral cavity | OSCC | positive regulation of cell adhesion | 225/7305 | 437/18723 | 6.06e-08 | 1.09e-06 | 225 |
| GO:001081120 | Oral cavity | OSCC | positive regulation of cell-substrate adhesion | 71/7305 | 123/18723 | 1.96e-05 | 1.87e-04 | 71 |
| GO:00301983 | Oral cavity | OSCC | extracellular matrix organization | 146/7305 | 301/18723 | 4.67e-04 | 2.77e-03 | 146 |
| GO:00452293 | Oral cavity | OSCC | external encapsulating structure organization | 147/7305 | 304/18723 | 5.30e-04 | 3.08e-03 | 147 |
| Page: 1 2 3 4 |
| 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 |
| CCDC80 | SNV | Missense_Mutation | c.2431N>T | p.Arg811Cys | p.R811C | Q76M96 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-A2-A1FW-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cytoxan | SD | |
| CCDC80 | SNV | Missense_Mutation | c.1725N>T | p.Lys575Asn | p.K575N | Q76M96 | protein_coding | tolerated(0.11) | benign(0.007) | TCGA-A8-A08L-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD | |
| CCDC80 | SNV | Missense_Mutation | novel | c.2365N>A | p.Asp789Asn | p.D789N | Q76M96 | protein_coding | deleterious(0.01) | probably_damaging(0.992) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| CCDC80 | SNV | Missense_Mutation | rs371496097 | c.1256N>A | p.Arg419Gln | p.R419Q | Q76M96 | protein_coding | tolerated(0.23) | benign(0.132) | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
| CCDC80 | SNV | Missense_Mutation | c.120G>T | p.Leu40Phe | p.L40F | Q76M96 | protein_coding | tolerated_low_confidence(0.12) | benign(0.055) | TCGA-B6-A0X1-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | PD | |
| CCDC80 | SNV | Missense_Mutation | c.1630G>C | p.Glu544Gln | p.E544Q | Q76M96 | protein_coding | deleterious(0.03) | benign(0.044) | TCGA-C8-A1HM-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | doxorubicin | CR | |
| CCDC80 | SNV | Missense_Mutation | c.667N>T | p.Met223Leu | p.M223L | Q76M96 | protein_coding | tolerated(0.35) | benign(0.372) | TCGA-D8-A1JP-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD | |
| CCDC80 | SNV | Missense_Mutation | novel | c.52N>A | p.Val18Met | p.V18M | Q76M96 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.467) | TCGA-E2-A15M-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
| CCDC80 | SNV | Missense_Mutation | novel | c.2387N>G | p.Gln796Arg | p.Q796R | Q76M96 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-E2-A9RU-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | arimidex | SD |
| CCDC80 | SNV | Missense_Mutation | c.2617N>A | p.Gly873Arg | p.G873R | Q76M96 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-HN-A2OB-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | fluorouracil | PD |
| 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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