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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 |
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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 |
∗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). |
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Enriched GO biological processes. |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:001097523 | Thyroid | ATC | regulation of neuron projection development | 212/6293 | 445/18723 | 4.16e-10 | 1.14e-08 | 212 |
GO:003019812 | Thyroid | ATC | extracellular matrix organization | 152/6293 | 301/18723 | 8.63e-10 | 2.24e-08 | 152 |
GO:004306212 | Thyroid | ATC | extracellular structure organization | 152/6293 | 302/18723 | 1.17e-09 | 2.94e-08 | 152 |
GO:004522912 | Thyroid | ATC | external encapsulating structure organization | 152/6293 | 304/18723 | 2.11e-09 | 5.08e-08 | 152 |
GO:004586026 | Thyroid | ATC | positive regulation of protein kinase activity | 185/6293 | 386/18723 | 3.00e-09 | 7.02e-08 | 185 |
GO:0010811210 | Thyroid | ATC | positive regulation of cell-substrate adhesion | 73/6293 | 123/18723 | 4.12e-09 | 9.37e-08 | 73 |
GO:003070532 | Thyroid | ATC | cytoskeleton-dependent intracellular transport | 105/6293 | 195/18723 | 4.31e-09 | 9.70e-08 | 105 |
GO:0038127111 | Thyroid | ATC | ERBB signaling pathway | 71/6293 | 121/18723 | 1.31e-08 | 2.69e-07 | 71 |
GO:003367427 | Thyroid | ATC | positive regulation of kinase activity | 212/6293 | 467/18723 | 5.89e-08 | 1.05e-06 | 212 |
GO:0051017210 | Thyroid | ATC | actin filament bundle assembly | 85/6293 | 157/18723 | 8.99e-08 | 1.54e-06 | 85 |
GO:0007173111 | Thyroid | ATC | epidermal growth factor receptor signaling pathway | 63/6293 | 108/18723 | 1.15e-07 | 1.92e-06 | 63 |
GO:0061572210 | Thyroid | ATC | actin filament bundle organization | 86/6293 | 161/18723 | 1.68e-07 | 2.69e-06 | 86 |
GO:012003414 | Thyroid | ATC | positive regulation of plasma membrane bounded cell projection assembly | 60/6293 | 105/18723 | 6.10e-07 | 8.47e-06 | 60 |
GO:012003223 | Thyroid | ATC | regulation of plasma membrane bounded cell projection assembly | 95/6293 | 186/18723 | 6.13e-07 | 8.49e-06 | 95 |
GO:005123532 | Thyroid | ATC | maintenance of location | 152/6293 | 327/18723 | 7.84e-07 | 1.04e-05 | 152 |
GO:0060491111 | Thyroid | ATC | regulation of cell projection assembly | 95/6293 | 188/18723 | 1.14e-06 | 1.47e-05 | 95 |
GO:0045785210 | Thyroid | ATC | positive regulation of cell adhesion | 194/6293 | 437/18723 | 1.40e-06 | 1.75e-05 | 194 |
GO:003103226 | Thyroid | ATC | actomyosin structure organization | 98/6293 | 196/18723 | 1.44e-06 | 1.77e-05 | 98 |
GO:000626013 | Thyroid | ATC | DNA replication | 124/6293 | 260/18723 | 1.58e-06 | 1.93e-05 | 124 |
GO:005165133 | Thyroid | ATC | maintenance of location in cell | 105/6293 | 214/18723 | 1.92e-06 | 2.31e-05 | 105 |
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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 |
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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. |
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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 |
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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 |
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