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Gene: CCDC8 |
Gene summary for CCDC8 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | CCDC8 | Gene ID | 83987 |
| Gene name | coiled-coil domain containing 8 | |
| Gene Alias | 3M3 | |
| Cytomap | 19q13.32 | |
| Gene Type | protein-coding | GO ID | GO:0000226 | UniProtAcc | G8IFA7 |
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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 |
| 83987 | CCDC8 | P2T-E | Human | Esophagus | ESCC | 1.82e-12 | 2.21e-01 | 0.1177 |
| 83987 | CCDC8 | P5T-E | Human | Esophagus | ESCC | 1.13e-16 | 3.26e-01 | 0.1327 |
| 83987 | CCDC8 | P12T-E | Human | Esophagus | ESCC | 3.31e-19 | 4.07e-01 | 0.1122 |
| 83987 | CCDC8 | P15T-E | Human | Esophagus | ESCC | 5.19e-07 | 1.81e-01 | 0.1149 |
| 83987 | CCDC8 | P21T-E | Human | Esophagus | ESCC | 9.56e-08 | 2.01e-01 | 0.1617 |
| 83987 | CCDC8 | P31T-E | Human | Esophagus | ESCC | 9.20e-06 | 1.27e-01 | 0.1251 |
| 83987 | CCDC8 | P37T-E | Human | Esophagus | ESCC | 2.57e-08 | 1.74e-01 | 0.1371 |
| 83987 | CCDC8 | P42T-E | Human | Esophagus | ESCC | 9.05e-04 | 1.38e-01 | 0.1175 |
| 83987 | CCDC8 | P56T-E | Human | Esophagus | ESCC | 6.66e-05 | 4.10e-01 | 0.1613 |
| 83987 | CCDC8 | P61T-E | Human | Esophagus | ESCC | 2.55e-07 | 1.84e-01 | 0.099 |
| 83987 | CCDC8 | P65T-E | Human | Esophagus | ESCC | 9.91e-08 | 1.69e-01 | 0.0978 |
| 83987 | CCDC8 | P74T-E | Human | Esophagus | ESCC | 4.95e-14 | 3.87e-01 | 0.1479 |
| 83987 | CCDC8 | P76T-E | Human | Esophagus | ESCC | 2.13e-27 | 4.91e-01 | 0.1207 |
| 83987 | CCDC8 | P79T-E | Human | Esophagus | ESCC | 3.95e-30 | 5.07e-01 | 0.1154 |
| 83987 | CCDC8 | P107T-E | Human | Esophagus | ESCC | 1.41e-27 | 5.52e-01 | 0.171 |
| 83987 | CCDC8 | P130T-E | Human | Esophagus | ESCC | 3.51e-31 | 5.63e-01 | 0.1676 |
| Page: 1 |
| 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 |
| ∗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:00454445 | Cervix | CC | fat cell differentiation | 53/2311 | 229/18723 | 3.72e-06 | 9.75e-05 | 53 |
| GO:00160498 | Cervix | CC | cell growth | 92/2311 | 482/18723 | 1.16e-05 | 2.49e-04 | 92 |
| GO:00015588 | Cervix | CC | regulation of cell growth | 77/2311 | 414/18723 | 1.40e-04 | 1.70e-03 | 77 |
| GO:0045598 | Cervix | CC | regulation of fat cell differentiation | 31/2311 | 139/18723 | 7.06e-04 | 6.41e-03 | 31 |
| 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:001604914 | Cervix | HSIL_HPV | cell growth | 32/737 | 482/18723 | 2.87e-03 | 2.70e-02 | 32 |
| GO:004544413 | Cervix | HSIL_HPV | fat cell differentiation | 18/737 | 229/18723 | 4.27e-03 | 3.64e-02 | 18 |
| GO:0016049 | Colorectum | AD | cell growth | 143/3918 | 482/18723 | 2.83e-06 | 8.09e-05 | 143 |
| GO:0001558 | Colorectum | AD | regulation of cell growth | 124/3918 | 414/18723 | 7.67e-06 | 1.86e-04 | 124 |
| GO:0045785 | Colorectum | AD | positive regulation of cell adhesion | 122/3918 | 437/18723 | 2.65e-04 | 3.28e-03 | 122 |
| GO:0030705 | Colorectum | AD | cytoskeleton-dependent intracellular transport | 60/3918 | 195/18723 | 7.56e-04 | 7.59e-03 | 60 |
| GO:0045926 | Colorectum | AD | negative regulation of growth | 70/3918 | 249/18723 | 4.07e-03 | 2.83e-02 | 70 |
| GO:00015581 | Colorectum | SER | regulation of cell growth | 90/2897 | 414/18723 | 4.00e-04 | 6.02e-03 | 90 |
| GO:00160491 | Colorectum | SER | cell growth | 100/2897 | 482/18723 | 1.07e-03 | 1.24e-02 | 100 |
| 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 |
| 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 |
| CCDC8 | SNV | Missense_Mutation | c.704N>T | p.Gly235Val | p.G235V | Q9H0W5 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.571) | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| CCDC8 | SNV | Missense_Mutation | rs752421136 | c.1234G>A | p.Val412Ile | p.V412I | Q9H0W5 | protein_coding | tolerated_low_confidence(0.48) | benign(0) | TCGA-BH-A1FH-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
| CCDC8 | SNV | Missense_Mutation | c.1463G>T | p.Trp488Leu | p.W488L | Q9H0W5 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.998) | TCGA-C8-A275-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| CCDC8 | SNV | Missense_Mutation | rs764873641 | c.112N>T | p.Arg38Trp | p.R38W | Q9H0W5 | protein_coding | deleterious_low_confidence(0) | benign(0.095) | TCGA-C5-A1ML-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD |
| CCDC8 | SNV | Missense_Mutation | c.583N>T | p.Arg195Trp | p.R195W | Q9H0W5 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.995) | TCGA-EK-A2PM-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD | |
| CCDC8 | SNV | Missense_Mutation | c.290N>G | p.Tyr97Cys | p.Y97C | Q9H0W5 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.973) | TCGA-A6-2686-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| CCDC8 | SNV | Missense_Mutation | rs754734333 | c.1373N>T | p.Ala458Val | p.A458V | Q9H0W5 | protein_coding | tolerated_low_confidence(0.06) | benign(0.007) | TCGA-A6-6781-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Chemotherapy | oxaliplatin | SD |
| CCDC8 | SNV | Missense_Mutation | c.292N>A | p.Asp98Asn | p.D98N | Q9H0W5 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.997) | TCGA-AA-3510-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
| CCDC8 | SNV | Missense_Mutation | c.960N>T | p.Arg320Ser | p.R320S | Q9H0W5 | protein_coding | deleterious_low_confidence(0.01) | benign(0.33) | TCGA-AA-3815-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| CCDC8 | SNV | Missense_Mutation | c.1577N>C | p.Arg526Thr | p.R526T | Q9H0W5 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.719) | TCGA-AA-3819-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| Page: 1 2 3 4 5 6 7 |
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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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