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| TissGeneSummary for CCDC8 |
 Gene summary |
| Basic gene information | Gene symbol | CCDC8 |
| Gene name | coiled-coil domain containing 8 | |
| Synonyms | 3M3|PPP1R20|p90 | |
| Cytomap | UCSC genome browser: 19q13.32 | |
| Type of gene | protein-coding | |
| RefGenes | NM_032040.4, | |
| Description | coiled-coil domain-containing protein 8protein phosphatase 1, regulatory subunit 20 | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 614145 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000169515 | ||
| HPRD : 13009 | ||
| Vega : OTTHUMG00000162348 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CCDC8 | |
| BioGPS: 83987 | ||
| Pathway | NCI Pathway Interaction Database: CCDC8 | |
| KEGG: CCDC8 | ||
| REACTOME: CCDC8 | ||
| Pathway Commons: CCDC8 | ||
| Context | iHOP: CCDC8 | |
| ligand binding site mutation search in PubMed: CCDC8 | ||
| UCL Cancer Institute: CCDC8 | ||
| Assigned class in TissGDB* | C | |
| Included tissue-specific gene expression resources | TiGER,GTEx | |
| Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | Ovary | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | OV | |
| Reference showing the relevant tissue of CCDC8 | ||
| Description by TissGene annotations | ||
| * Class A consists of genes with literature evidence and is part of the cTissGenes. Class B consists of only cTissGenes without additional evidence. The remaining genes belong to Class C. |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO term | PubMed ID | GO:0010923 | negative regulation of phosphatase activity | 19389623 | GO:0010923 | negative regulation of phosphatase activity | 19389623 |
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| TissGeneExp for CCDC8 |
| Gene expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
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| Gene isoform expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA pan-cancer tcga_rsem_isoform_tpm, version 2016-09-01) |
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| Gene expressions across normal tissues of GTEx data (GTEx GTEx_Analysis_v6_RNA-seq_RNA-SeQCv1.1.8_gene_rpkm.gct) - Here, we shows the matched tissue types only among our 28 cancer types. |
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| Different expressions across 14 cancer types with more than 10 samples between matched tumors and normals (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
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| - Significantly differentially expressed cancer types and information. (|Fold change|>1 and FDR<0.05) |
| Cancer type | Mean(exp) in tumor | Mean(exp) in matched normal | Log2FC | P-val. | FDR |
| BRCA | 0.560201414 | 2.666454046 | -2.106252632 | 6.58E-26 | 6.87E-25 |
| PRAD | 0.258895915 | 1.827517069 | -1.568621154 | 5.73E-13 | 3.47E-11 |
| KIRC | 0.161302218 | 2.480629996 | -2.319327778 | 7.88E-13 | 3.42E-12 |
| LIHC | -2.911273393 | -1.512879393 | -1.398394 | 2.09E-07 | 1.35E-06 |
| BLCA | -0.477292446 | 0.585291765 | -1.062584211 | 0.00877 | 0.040634333 |
| KICH | 1.375384607 | 2.794080607 | -1.418696 | 0.00378 | 0.007333732 |
| KIRP | 1.504694232 | 2.724544232 | -1.21985 | 0.00267 | 0.00666608 |
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| TissGene-miRNA for CCDC8 |
| Significantly anti-correlated miRNAs of TissGene across 28 cancer types (Gene-miRNA relations from TargetScanHuman Relsease 7.1, Conserved_Site_Context_Scores.txt.zip, 06.01.2016) (TCGA IlluminaHiSeq_miRNASeq, log2(RPM+1) data, version 2016-11-21) (TCGA IlluminaHiSeq_RNASeqV2, log2(normalized_count+1) data, version 2016-08-16) (Spearman’s Rank Correlation (p-value<0.05 and coefficient<-0.25)) |
| Cancer type | miRNA id | miRNA accession | P-val. | Coeff. | # samples |
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| TissGeneMut for CCDC8 |
| TissGeneSNV for CCDC8 |
| nsSNV counts per each loci. Different colors of circles represent different cancer types. Circle size denotes number of samples. (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) * Click on the image to enlarge it in a new window. |
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| Somatic nucleotide variants of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of mutated samples) The numbers in parentheses are numbers of samples with mutation (nsSNVs). (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) |
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| - nsSNVs sorted by frequency. |
| AAchange | Cancer type | # samples |
| p.W488L | BRCA | 1 |
| p.A299T | SKCM | 1 |
| p.E370G | LUAD | 1 |
| p.R433W | UCEC | 1 |
| p.A166V | UCEC | 1 |
| p.E6* | LUAD | 1 |
| p.G450C | UCEC | 1 |
| p.S146N | STAD | 1 |
| p.A217V | BLCA | 1 |
| p.R368K | GBM | 1 |
| p.A252V | BRCA | 1 |
| p.Q43E | LUSC | 1 |
| p.Q84H | UCEC | 1 |
| p.R195W | CESC | 1 |
| p.A411V | STAD | 1 |
| p.P89L | SKCM | 1 |
| p.P167L | GBM | 1 |
| p.W488* | HNSC | 1 |
| p.D414N | UCEC | 1 |
| p.R492H | ESCA | 1 |
| p.P164S | LIHC | 1 |
| p.G484R | SKCM | 1 |
| p.E370G | BLCA | 1 |
| p.A323P | STAD | 1 |
| p.A525V | STAD | 1 |
| p.G328E | LUSC | 1 |
| p.R508T | HNSC | 1 |
| p.H383Q | HNSC | 1 |
| p.E47K | STAD | 1 |
| p.R171C | ESCA | 1 |
| p.E402Q | HNSC | 1 |
| p.G286A | OV | 1 |
| p.P240L | SKCM | 1 |
| p.R208Q | SKCM | 1 |
| p.A355V | LGG | 1 |
| p.V17I | SKCM | 1 |
| p.R57H | PAAD | 1 |
| p.R485C | STAD | 1 |
| p.A239V | UVM | 1 |
| p.S401P | TGCT | 1 |
| p.Q200L | KIRP | 1 |
| p.A355S | STAD | 1 |
| p.A434V | STAD | 1 |
| p.R40W | STAD | 1 |
| p.G204R | SKCM | 1 |
| p.A446T | UCEC | 1 |
| p.D301N | HNSC | 1 |
| p.Q119* | LUSC | 1 |
| p.A393T | STAD | 1 |
| p.R248C | SKCM | 1 |
| p.E361K | PAAD | 1 |
| p.S487L | UCEC | 1 |
| p.D98N | COAD | 1 |
| p.R40L | BLCA | 1 |
| p.P449L | PRAD | 1 |
| p.G296R | DLBC | 1 |
| p.R80S | LUAD | 1 |
| p.K61E | SKCM | 1 |
| p.R38W | CESC | 1 |
| p.T32A | PRAD | 1 |
| p.A438S | BLCA | 1 |
| p.G204E | SKCM | 1 |
| p.R128C | LIHC | 1 |
| p.G435A | LUAD | 1 |
| p.R376G | LIHC | 1 |
| p.A393V | COAD | 1 |
| p.A458V | COAD | 1 |
| p.Q335E | LIHC | 1 |
| p.R118H | PAAD | 1 |
| p.A102T | STAD | 1 |
| p.Q281L | SKCM | 1 |
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| TissGeneCNV for CCDC8 |
| Copy number variations of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of CNV samples) (TCGA Gistic2_CopyNumber_Gistic2_all_data_by_genes, Gistic2 copy number data, version 2016-08-16) |
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| TissGeneFusions for CCDC8 |
| Fusion genes including TissGene (ChimerDB 3.0, 2016-12-01 and TCGA fusion Portal 2015-12-01) |
| Database | Src | Cancer type | Sample | Fusion gene | ORF | 5'-gene BP | 3'-gene BP |
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| TissGeneNet for CCDC8 |
| Co-expressed gene networks based on protein-protein interaction data (CePIN) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (PINA2 ppi data) |
| BRCA (tumor) | BRCA (normal) |
| CCDC8, TP53, KAT5, PPP1CA, FBXW8, OBSL1 (tumor) | CCDC8, TP53, KAT5, PPP1CA, FBXW8, OBSL1 (normal) |
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| COAD (tumor) | COAD (normal) |
| CCDC8, TP53, KAT5, PPP1CA, FBXW8, OBSL1 (tumor) | CCDC8, TP53, KAT5, PPP1CA, FBXW8, OBSL1 (normal) |
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| HNSC (tumor) | HNSC (normal) |
| CCDC8, TP53, KAT5, PPP1CA, FBXW8, OBSL1 (tumor) | CCDC8, TP53, KAT5, PPP1CA, FBXW8, OBSL1 (normal) |
 |  |
| KICH (tumor) | KICH (normal) |
| CCDC8, TP53, KAT5, PPP1CA, FBXW8, OBSL1 (tumor) | CCDC8, TP53, KAT5, PPP1CA, FBXW8, OBSL1 (normal) |
 |  |
| KIRC (tumor) | KIRC (normal) |
| CCDC8, TP53, KAT5, PPP1CA, FBXW8, OBSL1 (tumor) | CCDC8, TP53, KAT5, PPP1CA, FBXW8, OBSL1 (normal) |
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| KIRP (tumor) | KIRP (normal) |
| CCDC8, TP53, KAT5, PPP1CA, FBXW8, OBSL1 (tumor) | CCDC8, TP53, KAT5, PPP1CA, FBXW8, OBSL1 (normal) |
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| LIHC (tumor) | LIHC (normal) |
| CCDC8, TP53, KAT5, PPP1CA, FBXW8, OBSL1 (tumor) | CCDC8, TP53, KAT5, PPP1CA, FBXW8, OBSL1 (normal) |
 |  |
| LUAD (tumor) | LUAD (normal) |
| CCDC8, TP53, KAT5, PPP1CA, FBXW8, OBSL1 (tumor) | CCDC8, TP53, KAT5, PPP1CA, FBXW8, OBSL1 (normal) |
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| LUSC (tumor) | LUSC (normal) |
| CCDC8, TP53, KAT5, PPP1CA, FBXW8, OBSL1 (tumor) | CCDC8, TP53, KAT5, PPP1CA, FBXW8, OBSL1 (normal) |
 |  |
| PRAD (tumor) | PRAD (normal) |
| CCDC8, TP53, KAT5, PPP1CA, FBXW8, OBSL1 (tumor) | CCDC8, TP53, KAT5, PPP1CA, FBXW8, OBSL1 (normal) |
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| STAD (tumor) | STAD (normal) |
| CCDC8, TP53, KAT5, PPP1CA, FBXW8, OBSL1 (tumor) | CCDC8, TP53, KAT5, PPP1CA, FBXW8, OBSL1 (normal) |
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| THCA (tumor) | THCA (normal) |
| CCDC8, TP53, KAT5, PPP1CA, FBXW8, OBSL1 (tumor) | CCDC8, TP53, KAT5, PPP1CA, FBXW8, OBSL1 (normal) |
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| TissGeneProg for CCDC8 |
| Kaplan-Meier plots with logrank tests of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image to enlarge it in a new window. |
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| Kaplan-Meier plots with logrank test of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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| Forest plot of Cox proportional hazard ratio (HR) and 95% CI of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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| Forest plot of Cox proportional hazard ratio (HR) and 95% CI of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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| TissGeneClin for CCDC8 |
| TissGeneDrug for CCDC8 |
| Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
| DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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| TissGeneDisease for CCDC8 |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C1848862 | Miller-McKusick-Malvaux-Syndrome (3M Syndrome) | 4 | BeFree,ORPHANET |
| umls:C2678312 | Three M Syndrome 1 | 4 | BeFree |
| umls:C0035920 | Rubella | 2 | BeFree |
| umls:C0003850 | Arteriosclerosis | 1 | BeFree |
| umls:C0004153 | Atherosclerosis | 1 | BeFree |
| umls:C0006142 | Malignant neoplasm of breast | 1 | BeFree |
| umls:C0007134 | Renal Cell Carcinoma | 1 | BeFree |
| umls:C0011849 | Diabetes Mellitus | 1 | BeFree |
| umls:C0013336 | Dwarfism | 1 | BeFree |
| umls:C0025202 | melanoma | 1 | BeFree |
| umls:C0027627 | Neoplasm Metastasis | 1 | BeFree |
| umls:C0035304 | Retinal Degeneration | 1 | BeFree |
| umls:C0041341 | Tuberous Sclerosis | 1 | BeFree |
| umls:C0278510 | Medulloblastoma, Childhood | 1 | BeFree |
| umls:C0678222 | Breast Carcinoma | 1 | BeFree |
| umls:C1168401 | Squamous cell carcinoma of the head and neck | 1 | BeFree |
| umls:C1998028 | Photoreceptor degeneration | 1 | BeFree |
| umls:C3539878 | Triple Negative Breast Neoplasms | 1 | BeFree |
| umls:C1851996 | Dwarfism tall vertebrae | 0 | ORPHANET |
| umls:C3280146 | THREE M SYNDROME 3 | 0 | CLINVAR |
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