Atlas of Genetics and Cytogenetics in Oncology and Haematology

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

CCDC6 (coiled-coil domain containing 6)

Written2001-06Nick.C P Cross
Wessex Regional Genetics Laboratory Salisbury District Hospital Salisbury, SP2 8BJ, UK
Updated2015-06Francesco Morra, Caterina Miro, Virginia Napolitano, Francesco Merolla, Angela Celetti
Istituto per l'Endocrinologia e l'Oncologia Sperimentale, IEOS, CNR, via Pansini 5, 80131, Naples, Italy.,,,,

Abstract CCDC6 gene product is a pro-apoptotic protein substrate of ATM whose loss or inactivation enhances tumor progression. In primary tumors the impaired function of CCDC6 protein has been ascribed to CCDC6 rearrangements, to somatic mutations and to CCDC6 different levels in several neoplasia. The CCDC6 turnover is regulated in a cell cycle dependent manner upon post-translational modification events. The impairment of CCDC6 turnover may affect cells behaviour and drug response.

Keywords CCDC6, Apoptosis, DNA damage response, DNA repair, carcinogenesis, cell cycle checkpoint

(Note : for Links provided by Atlas : click)


Alias_namessingle copy
probe pH4 (transforming sequence
Alias_symbol (synonym)PTC
Other aliasD10S170
LocusID (NCBI) 8030
Atlas_Id 280
Location 10q21.2  [Link to chromosome band 10q21]
Location_base_pair Starts at 59788748 and ends at 59906656 bp from pter ( according to hg19-Feb_2009)  [Mapping CCDC6.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CCDC6 (10q21.2) / ANK3 (10q21.2)CCDC6 (10q21.2) / BRAF (7q34)CCDC6 (10q21.2) / CCDC6 (10q21.2)
CCDC6 (10q21.2) / CTNNA3 (10q21.3)CCDC6 (10q21.2) / KCNH8 (3p24.3)CCDC6 (10q21.2) / LIPI (21q11.2)
CCDC6 (10q21.2) / PDGFRB (5q32)CCDC6 (10q21.2) / RAD1 (5p13.2)CCDC6 (10q21.2) / RET (10q11.21)
CCDC6 (10q21.2) / ROS1 (6q22.1)CCDC6 (10q21.2) / UBE2D1 (10q21.1)FGFR2 (10q26.13) / CCDC6 (10q21.2)
KCNH8 (3p24.3) / CCDC6 (10q21.2)KITLG (12q21.32) / CCDC6 (10q21.2)PDGFRB (5q32) / CCDC6 (10q21.2)
RET (10q11.21) / CCDC6 (10q21.2)ROS1 (6q22.1) / CCDC6 (10q21.2)VPS13B (8q22.2) / CCDC6 (10q21.2)


Description The CCDC6 gene (Coiled Coil Containing 6) has been identified upon its frequent rearrangement with the RET proto-oncogene in papillary thyroid carcinomas (Fusco et al., 1987; Grieco et al., 1990), and with genes other than RET in solid and not solid tumours (Drechsler et al., 2007). Recently, by using an integrated molecular- and histopathology- based screening, the fusion CCDC6/RET has been also detected in lung adenocarcinoma, even at low frequency (Takeuchi et al., 2012).
The CCDC6 gene is located on the long arm of chromosome 10 (10q21), and contains 9 exons that encode a transcript of 3 Kb showing an open reading frame (ORF) of 475 aa. The CCDC6 gene promoter, localized within 259 bp upstream of the ATG site, drives the gene expression ubiquitously in various human tissue (Tong et al., 1995). In tumors harboring the RET/PTC1 rearrangement, the activation of RET involves chromosomal inversion of the long arm of chromosome 10 that juxtaposes the tyrosine kinase-encoding domain of RET, mapped at 10q11.2, to the promoter and the first exon of the CCDC6 gene, originally named H4(D10S170) (Pierotti et al., 1992).
Pseudogene None reported


Description 474 amino acid coiled coil protein. Its predicted amino-acid (aa) sequence contains a long coiled coil region and a putative binding domain for SH3-proteins, suggesting its possible involvement in protein-protein interactions (Grieco et al., 1994). CCDC6 gene product shows extensive regions of alpha helices which have a high potential to adopt a coiled-coil conformation. Coiled-coils are formed by two or three alpha-helices that are strongly amphipathic and supercoil around each other, crossing at an angle of about 20- (Lupas et al., 1991). It has been demonstrate that such region can be involved in protein dimerization or oligomerization. CCDC6 protein is an ubiquitously expressed 65 KDa nuclear and cytosolic protein phosphorylated by ERK1/2 at serine 244 upon serum induction (Grieco et al., 1994; Celetti et al., 2004). In the last years, several large-scale phosphorylation site-mapping studies have recognized CCDC6 as a phosphoprotein (Beausoleil et al., 2004; Brill et al., 2004) (Figure 1).
CCDC6 has been recognized as a pro-apoptotic protein, while the CCDC6 protein truncated at the carboxyterminus, such as in the fusion with different oncogenes, acts as dominant negative on nuclear localization and apoptosis induced by the wild-type protein (Celetti et al., 2004). CCDC6 is phosphorylated at T434 by the ATM kinase that stabilizes the protein in the nucleus in response to DNA damage. The loss of the CCDC6 region recognised by ATM kinase or the full protein deficiency determines an increase in cell survival, allows for DNA synthesis and permits cell to progress into mitosis, following the exposure to genotoxic stress (Merolla et al., 2007).
CCDC6 gene product undergoes multiple post-translational modifications such as sumoylation (Luise et al., 2012), ubiquitination (Povlsen et al., 2012; Morra et al., 2015), and phosphorylation (Celetti et al., 2004; Beausoleil et al., 2004; Brill et al., 2004; Morra et al., 2015), suggesting that CCDC6 protein activity is highly regulated (Figure 3).
  Fig. 1: Putative phosphorylation sites in CCDC6 protein. The arrows indicate the ERK1/2 and the ATM kinases predicted phosphorylation sites.
Expression Widely expressed, cell cycle regulated, post translational modified
Function Proapoptotic and cell cycle regulated protein, involved in DNA damage and repair.
Further supporting a role of CCDC6 in control of cell proliferation, it has been reported that CCDC6 interacts with CREB1 and inhibits its cAMP-dependent transcriptional activity (Leone et al., 2010) in a SUMO-dependent manner (Luise et al., 2012). Interestingly, CCDC6 knock-in mice develop thyroid hyperplasia associated to an enhanced CREB1 activity (Leone V et al., 2015), supporting a likely role of the haploinsufficiency of CCDC6 expression in the development of thyroid papillary carcinomas carrying the RET/PTC1 rearrangements.
High-throughput proteomic screening predicted the interaction between CCDC6 and the catalytic subunit of Protein Phosphatase 4 (PP4c) (Ewing et al., 2007) that has been confirmed in vitro and in vivo (Merolla et al., 2012). Moreover, it has been demonstrate that cells depleted of CCDC6 have an enhanced phosphatase activity directed toward the phosphorylation of the H2AX protein in response to ionizing radiation (IR). Loss of CCDC6 also affects the DNA damage induced G2 arrest, promoting the overcome of G2/M checkpoint. Furthermore, loss of CCDC6 affects the DNA repair mechanisms in G2 and increases the levels of the error prone mechanism of repair, 'Non Homologous End Joining', (NHEJ ) (Merolla et al., 2012). In recent studies it has been reported that the E3 ubiquitin ligase FBXW7 specifically interacts with CCDC6 driving its degradation in a proteasomal dependent manner (Zhao et al., 2012). Moreover, CCDC6 degradation is impaired in response to DNA damage. The post translational events that regulate the phosphorylation status and the abundance of CCDC6 during the cell cycle have been also investigated (Morra et al., 2015a).
In human cancers, it has been recently reported that the loss of CCDC6 in the Testicular Germ Cell Tumors (TGCTs) might aid the spermatogonial cells to benefit from a pro-survival pathway in order to evade the toxic effects of endogenous oxidants and then promote testicular neoplastic growth (Staibano et al., 2013). Furthermore, in NSCLC, TMA immunostaining for CCDC6 revealed low CCDC6 expression in about 30% of the NSCLC analyzed (45 out of 138), besides the low penetrance of reported CCDC6 mutations or CCDC6/RET rearrangements. The defective expression of CCDC6 in NSCLC has been negatively correlated to DFS and OS (Morra et al., 2015b). Moreover, the defective expression of CCDC6 causes an impairment of DNA repair by homologous recombination (HR) in NSCLC cells, making these cells sensitive to PARP inhibitors. Finally, it has been reported that beside the CCDC6 sporadic mutations, molecular alterations in CCDC6 modifiers, such as Fbxw7 E3 ubiquitin ligase or USP7 de-ubiquitinating enzyme, may also account for the impairment of the CCDC6 turnover and may be critical in optimizing personalized therapy. About 20% of primary NSCLC exhibit reduced USP7 expression and also show barely detectable levels of CCDC6 that may increase their sensitivity to PARP inhibitors (Morra et al., 2015a). Therefore, the indication of CCDC6 as a novel USP7 substrate provides the rational for novel personalized therapy in NSCLC patients carrying USP7 deficiency.
Therefore, as the loss of CCDC6 causes an impairment of DNA repair by homologous recombination, in tumors that harbor low levels of USP7, the detection of low levels of its substrate CCDC6 should provide the indications for the PARP inhibitors treatment (Morra et al., 2015b).
  Fig. 2: CCDC6 interactors and modifiers.
Homology Sequencing analysis of CCDC6 cDNA shows that CCDC6 has not significant homology to know genes. Weak but significant homology to the myosin superfamily.


  Fig. 3 : CCDC6 rearrangements. The red arrow shows the RET/PTC1 and the black one shows the CCDC6/PDGFRB breakpoint.
Germinal None
Point mutations: TCGAcbioPortal& Cosmic -CCDC6 - dist

Implicated in

Entity Papillary thyroid carcinoma
Cytogenetics inv(10)(q11.2q21) or t(10;10)(q11;q21) CCDC6/RET
t(10;10)(q21;q23) CCDC6/PTEN
t(8;10)(q22;q21) VPS13B/CCDC6
Hybrid/Mutated Gene CCDC6/RET
Abnormal Protein The fusion protein CCDC6/RET contains the first 101 aminoacids including part of CCDC6 coiled coil domain and the entire tyrosine kinase domain of RET. The fusion is a constitutively active tyrosine kinase.
Oncogenesis In transgenic mice the fusion CCDC6/RET gave rise to mammary adenocarcinomas and, less frequently, hyperplasia of sebaceous glands and rare benign skin tumors. CCDC6 knock in mice develop thyroid hyperplasia associated with an enhanced CREB1 activity.
The simultaneous occurrence of CCDC6/PTEN, RET/PTC and BRAF mutations have been reported in papillary thyroid carcinomas.
Entity negative chronic myeloid leukaemia / chronic myelomonocytic leukemia
Disease atypical chronic myeloid leukemia
Prognosis Too few cases reported but likely to be similar to CML
Cytogenetics t(5;10)(q33;q21.2)
Hybrid/Mutated Gene CCDC6/PDGFRB. In a single case analyzed the translocation was found to be complex at the molecular level.
Abnormal Protein Contains the first 368 amminoacids including part of CCDC6 coiled coil domain of CCDC6 and the leucine zipper of H4 and the entire tyrosine kinase domain and transmembrane domain of PDGFRB
Entity Non-small-cell lung cancer (NSCLC)
Disease Adenocarcinoma (NSCLC)
Cytogenetics inv(10)(q11.2q21) or t(10;10)(q11;q21) CCDC6/RET
t(6;10)(q22;q21) CCDC6/ROS1
t(10;10)(q21;q21) CCDC6/CTNNA3
t(10;12)(q21;q21) KITLG/CCDC6
t(10;21)(q21;q11) CCDC6/LIPI
Abnormal Protein Contains the first 101 amino acids including part of CCDC6 coiled coil domain of CCDC6
Entity Breast cancer
Cytogenetics t(10;10)(q21;q26) FGFR2/CCDC6
t(10;10)(q21;q21) CCDC6/UBE2D1
Hybrid/Mutated Gene FGFR2/CCDC6
Entity Ovarian epithelial tumor
Cytogenetics t(10;10)(q21;q21) CCDC6/ANK3
Hybrid/Mutated Gene CCDC6/ANK3




Large-scale characterization of HeLa cell nuclear phosphoproteins
Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, Cohn MA, Cantley LC, Gygi SP
Proc Natl Acad Sci U S A 2004 Aug 17;101(33):12130-5
PMID 15302935
Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry
Brill LM, Salomon AR, Ficarro SB, Mukherji M, Stettler-Gill M, Peters EC
Anal Chem 2004 May 15;76(10):2763-72
PMID 15144186
H4(D10S170), a gene frequently rearranged with RET in papillary thyroid carcinomas: functional characterization
Celetti A, Cerrato A, Merolla F, Vitagliano D, Vecchio G, Grieco M
Oncogene 2004 Jan 8;23(1):109-21
PMID 14712216
Fusion of H4/D10S170 to PDGFRbeta in a patient with chronic myelomonocytic leukemia and long-term responsiveness to imatinib
Drechsler M, Hildebrandt B, Kündgen A, Germing U, Royer-Pokora B
Ann Hematol 2007 May;86(5):353-4
PMID 17211520
Large-scale mapping of human protein-protein interactions by mass spectrometry
Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, McBroom-Cerajewski L, Robinson MD, O'Connor L, Li M, Taylor R, Dharsee M, Ho Y, Heilbut A, Moore L, Zhang S, Ornatsky O, Bukhman YV, Ethier M, Sheng Y, Vasilescu J, Abu-Farha M, Lambert JP, Duewel HS, Stewart II, Kuehl B, Hogue K, Colwill K, Gladwish K, Muskat B, Kinach R, Adams SL, Moran MF, Morin GB, Topaloglou T, Figeys D
Mol Syst Biol 2007;3:89
PMID 17353931
A new oncogene in human thyroid papillary carcinomas and their lymph-nodal metastases
Fusco A, Grieco M, Santoro M, Berlingieri MT, Pilotti S, Pierotti MA, Della Porta G, Vecchio G
Nature 1987 Jul 9-15;328(6126):170-2
PMID 3600795
Cloning and characterization of H4 (D10S170), a gene involved in RET rearrangements in vivo
Grieco M, Cerrato A, Santoro M, Fusco A, Melillo RM, Vecchio G
Oncogene 1994 Sep;9(9):2531-5
PMID 8058316
PTC is a novel rearranged form of the ret proto-oncogene and is frequently detected in vivo in human thyroid papillary carcinomas
Grieco M, Santoro M, Berlingieri MT, Melillo RM, Donghi R, Bongarzone I, Pierotti MA, Della Porta G, Fusco A, Vecchio G
Cell 1990 Feb 23;60(4):557-63
PMID 2406025
The RET proto-oncogene in human cancers
Jhiang SM
Oncogene 2000 Nov 20;19(49):5590-7
PMID 11114739
Fusion of H4/D10S170 to the platelet-derived growth factor receptor beta in BCR-ABL-negative myeloproliferative disorders with a t(5;10)(q33;q21)
Kulkarni S, Heath C, Parker S, Chase A, Iqbal S, Pocock CF, Kaeda J, Cwynarski K, Goldman JM, Cross NC
Cancer Res 2000 Jul 1;60(13):3592-8
PMID 10910073
Ccdc6 knock-in mice develop thyroid hyperplasia associated to an enhanced CREB1 activity
Leone V, Langella C, Esposito F, Arra C, Palma G, Rea D, Paciello O, Merolla F, De Biase D, Papparella S, Celetti A, Fusco A
Oncotarget 2015 Jun 20;6(17):15628-38
PMID 25970781
CCDC6 represses CREB1 activity by recruiting histone deacetylase 1 and protein phosphatase 1
Leone V, Mansueto G, Pierantoni GM, Tornincasa M, Merolla F, Cerrato A, Santoro M, Grieco M, Scaloni A, Celetti A, Fusco A
Oncogene 2010 Jul 29;29(30):4341-51
PMID 20498639
Identification of sumoylation sites in CCDC6, the first identified RET partner gene in papillary thyroid carcinoma, uncovers a mode of regulating CCDC6 function on CREB1 transcriptional activity
Luise C, Merolla F, Leone V, Paladino S, Sarnataro D, Fusco A, Celetti A
PLoS One 2012;7(11):e49298
PMID 23145146
Predicting coiled coils from protein sequences
Lupas A, Van Dyke M, Stock J
Science 1991 May 24;252(5009):1162-4
PMID 2031185
Loss of CCDC6, the first identified RET partner gene, affects pH2AX S139 levels and accelerates mitotic entry upon DNA damage
Merolla F, Luise C, Muller MT, Pacelli R, Fusco A, Celetti A
PLoS One 2012;7(5):e36177
PMID 22655027
Involvement of H4(D10S170) protein in ATM-dependent response to DNA damage
Merolla F, Pentimalli F, Pacelli R, Vecchio G, Fusco A, Grieco M, Celetti A
Oncogene 2007 Sep 13;26(42):6167-75
PMID 17420723
FBXW7 and USP7 regulate CCDC6 turnover during the cell cycle and affect cancer drugs susceptibility in NSCLC
Morra F, Luise C, Merolla F, Poser I, Visconti R, Ilardi G, Paladino S, Inuzuka H, Guggino G, Monaco R, Colecchia D, Monaco G, Cerrato A, Chiariello M, Denning K, Claudio PP, Staibano S, Celetti A
Oncotarget 2015 May 20;6(14):12697-709
PMID 25885523
Characterization of an inversion on the long arm of chromosome 10 juxtaposing D10S170 and RET and creating the oncogenic sequence RET/PTC
Pierotti MA, Santoro M, Jenkins RB, Sozzi G, Bongarzone I, Grieco M, Monzini N, Miozzo M, Herrmann MA, Fusco A, et al
Proc Natl Acad Sci U S A 1992 Mar 1;89(5):1616-20
PMID 1542652
Development of mammary and cutaneous gland tumors in transgenic mice carrying the RET/PTC1 oncogene
Portella G, Salvatore D, Botti G, Cerrato A, Zhang L, Mineo A, Chiappetta G, Santelli G, Pozzi L, Vecchio G, Fusco A, Santoro M
Oncogene 1996 Nov 7;13(9):2021-6
PMID 8934550
Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass
Povlsen LK, Beli P, Wagner SA, Poulsen SL, Sylvestersen KB, Poulsen JW, Nielsen ML, Bekker-Jensen S, Mailand N, Choudhary C
Nat Cell Biol 2012 Oct;14(10):1089-98
PMID 23000965
RET/PTC-induced gene expression in thyroid PCCL3 cells reveals early activation of genes involved in regulation of the immune response
Puxeddu E, Knauf JA, Sartor MA, Mitsutake N, Smith EP, Medvedovic M, Tomlinson CR, Moretti S, Fagin JA
Endocr Relat Cancer 2005 Jun;12(2):319-34
PMID 15947106
H4(D10S170), a gene frequently rearranged in papillary thyroid carcinoma, is fused to the platelet-derived growth factor receptor beta gene in atypical chronic myeloid leukemia with t(5;10)(q33;q22)
Schwaller J, Anastasiadou E, Cain D, Kutok J, Wojiski S, Williams IR, LaStarza R, Crescenzi B, Sternberg DW, Andreasson P, Schiavo R, Siena S, Mecucci C, Gilliland DG
Blood 2001 Jun 15;97(12):3910-8
PMID 11389034
Critical role of CCDC6 in the neoplastic growth of testicular germ cell tumors
Staibano S, Ilardi G, Leone V, Luise C, Merolla F, Esposito F, Morra F, Siano M, Franco R, Fusco A, Chieffi P, Celetti A
BMC Cancer 2013 Sep 24;13:433
PMID 24059746
Characterization of the promoter region and oligomerization domain of H4 (D10S170), a gene frequently rearranged with the ret proto-oncogene
Tong Q, Li Y, Smanik PA, Fithian LJ, Xing S, Mazzaferri EL, Jhiang SM
Oncogene 1995 May 4;10(9):1781-7
PMID 7753554
Leucine zipper-mediated dimerization is essential for the PTC1 oncogenic activity
Tong Q, Xing S, Jhiang SM
J Biol Chem 1997 Apr 4;272(14):9043-7
PMID 9083029
5HT2 receptor changes in major depression
Yates M, Leake A, Candy JM, Fairbairn AF, McKeith IG, Ferrier IN
Biol Psychiatry 1990 Mar 1;27(5):489-96
PMID 2310804


This paper should be referenced as such :
Morra F, Miro C, Napolitano V, Merolla F, Celetti A
CCDC6 (coiled-coil domain containing 6);
Atlas Genet Cytogenet Oncol Haematol. in press
On line version :
History of this paper:
Cross, NCP. CCDC6 (coiled-coil domain containing 6). Atlas Genet Cytogenet Oncol Haematol. 2001;5(3):186-187.

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  Atypical Chronic Myeloid Leukemia (aCML)
t(5;10)(q33;q21) CCDC6/PDGFRB

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  Thyroid: Papillary carcinoma/Adenocarcinoma
Lung: Translocations in Adenocarcinoma
Lung: Translocations in Small Cell Carcinoma

External links

HGNC (Hugo)CCDC6   18782
Entrez_Gene (NCBI)CCDC6  8030  coiled-coil domain containing 6
AliasesD10S170; H4; PTC; TPC; 
GeneCards (Weizmann)CCDC6
Ensembl hg19 (Hinxton)ENSG00000108091 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000108091 [Gene_View]  chr10:59788748-59906656 [Contig_View]  CCDC6 [Vega]
ICGC DataPortalENSG00000108091
TCGA cBioPortalCCDC6
Genatlas (Paris)CCDC6
SOURCE (Princeton)CCDC6
Genetics Home Reference (NIH)CCDC6
Genomic and cartography
GoldenPath hg38 (UCSC)CCDC6  -     chr10:59788748-59906656 -  10q21.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CCDC6  -     10q21.2   [Description]    (hg19-Feb_2009)
EnsemblCCDC6 - 10q21.2 [CytoView hg19]  CCDC6 - 10q21.2 [CytoView hg38]
Mapping of homologs : NCBICCDC6 [Mapview hg19]  CCDC6 [Mapview hg38]
OMIM188550   601985   
Gene and transcription
Genbank (Entrez)AA112388 AK024913 AK055515 AK056848 AK292593
RefSeq transcript (Entrez)NM_005436
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CCDC6
Cluster EST : UnigeneHs.591360 [ NCBI ]
CGAP (NCI)Hs.591360
Alternative Splicing GalleryENSG00000108091
Gene ExpressionCCDC6 [ NCBI-GEO ]   CCDC6 [ EBI - ARRAY_EXPRESS ]   CCDC6 [ SEEK ]   CCDC6 [ MEM ]
Gene Expression Viewer (FireBrowse)CCDC6 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8030
GTEX Portal (Tissue expression)CCDC6
Human Protein AtlasENSG00000108091-CCDC6 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ16204   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ16204  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ16204
Splice isoforms : SwissVarQ16204
Domains : Interpro (EBI)DUF2046   
Domain families : Pfam (Sanger)DUF2046 (PF09755)   
Domain families : Pfam (NCBI)pfam09755   
Conserved Domain (NCBI)CCDC6
DMDM Disease mutations8030
Blocks (Seattle)CCDC6
Human Protein Atlas [tissue]ENSG00000108091-CCDC6 [tissue]
Peptide AtlasQ16204
IPIIPI00807498   IPI00956015   
Protein Interaction databases
IntAct (EBI)Q16204
Ontologies - Pathways
Ontology : AmiGOstructural constituent of cytoskeleton  protein binding  cytosol  cytoskeleton  cytoskeleton organization  biological_process  SH3 domain binding  
Ontology : EGO-EBIstructural constituent of cytoskeleton  protein binding  cytosol  cytoskeleton  cytoskeleton organization  biological_process  SH3 domain binding  
Pathways : KEGGPathways in cancer    Thyroid cancer   
NDEx NetworkCCDC6
Atlas of Cancer Signalling NetworkCCDC6
Wikipedia pathwaysCCDC6
Orthology - Evolution
GeneTree (enSembl)ENSG00000108091
Phylogenetic Trees/Animal Genes : TreeFamCCDC6
Homologs : HomoloGeneCCDC6
Homology/Alignments : Family Browser (UCSC)CCDC6
Gene fusions - Rearrangements
Fusion : MitelmanCCDC6/ANK3 [10q21.2/10q21.2]  
Fusion : MitelmanCCDC6/CTNNA3 [10q21.2/10q21.3]  [t(10;10)(q21;q21)]  
Fusion : MitelmanCCDC6/LIPI [10q21.2/21q11.2]  [t(10;21)(q21;q11)]  
Fusion : MitelmanCCDC6/PDGFRB [10q21.2/5q32]  [t(5;10)(q32;q21)]  
Fusion : MitelmanCCDC6/RET [10q21.2/10q11.21]  [inv(10)(p11q11)]  [inv(10)(q11q11)]  
[inv(10)(q11q21)]  [t(10;17)(q11;q24)]  
Fusion : MitelmanCCDC6/ROS1 [10q21.2/6q22.1]  [t(6;10)(q22;q21)]  
Fusion : MitelmanCCDC6/UBE2D1 [10q21.2/10q21.1]  [t(10;10)(q21;q21)]  
Fusion : MitelmanFGFR2/CCDC6 [10q26.13/10q21.2]  [t(10;10)(q21;q26)]  
Fusion : MitelmanKITLG/CCDC6 [12q21.32/10q21.2]  [t(10;12)(q21;q21)]  
Fusion : MitelmanRET/CCDC6 [10q11.21/10q21.2]  [t(10;10)(q11;q21)]  
Fusion : MitelmanVPS13B/CCDC6 [8q22.2/10q21.2]  [t(8;10)(q22;q21)]  
Fusion : COSMICCCDC6 [10q21.2]  -  RET [10q11.21]  [fusion_1271]  [fusion_1272]  [fusion_1480]  [fusion_1515]  [fusion_1516]  [fusion_1518]  [fusion_1532]  
Fusion: TCGACCDC6 10q21.2 ANK3 10q21.2 BRCA LUAD OV
Fusion: TCGACCDC6 10q21.2 LIPI 21q11.2 LUAD
Fusion: TCGACCDC6 10q21.2 RET 10q11.21 THCA
Fusion: TCGACCDC6 10q21.2 UBE2D1 10q21.1 BRCA
Fusion: TCGAFGFR2 10q26.13 CCDC6 10q21.2 BRCA
Fusion: TCGAKITLG 12q21.32 CCDC6 10q21.2 LUSC
Fusion: TCGARET 10q11.21 CCDC6 10q21.2 THCA
Fusion: TCGAVPS13B 8q22.2 CCDC6 10q21.2 THCA
Fusion : TICdbCCDC6 [10q21.2]  -  PDGFRB [5q32]
Fusion : TICdbCCDC6 [10q21.2]  -  RET [10q11.21]
Fusion Cancer (Beijing)CCDC6 [10q21.2]  -  ROS1 [6q22.1]  [FUSC002622]  [FUSC002622]
Fusion Cancer (Beijing)ROS1 [6q22.1]  -  CCDC6 [10q21.2]  [FUSC002665]  [FUSC002665]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCCDC6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CCDC6
Exome Variant ServerCCDC6
ExAC (Exome Aggregation Consortium)ENSG00000108091
GNOMAD BrowserENSG00000108091
Genetic variants : HAPMAP8030
Genomic Variants (DGV)CCDC6 [DGVbeta]
DECIPHERCCDC6 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCCDC6 
ICGC Data PortalCCDC6 
TCGA Data PortalCCDC6 
Broad Tumor PortalCCDC6
OASIS PortalCCDC6 [ Somatic mutations - Copy number]
Cancer Gene: CensusCCDC6 
Somatic Mutations in Cancer : COSMICCCDC6  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCCDC6
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CCDC6
DgiDB (Drug Gene Interaction Database)CCDC6
DoCM (Curated mutations)CCDC6 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CCDC6 (select a term)
NCG5 (London)CCDC6
Cancer3DCCDC6(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
OMIM188550    601985   
Genetic Testing Registry CCDC6
NextProtQ16204 [Medical]
Target ValidationCCDC6
Huge Navigator CCDC6 [HugePedia]
snp3D : Map Gene to Disease8030
BioCentury BCIQCCDC6
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8030
Chemical/Pharm GKB GenePA134904022
Clinical trialCCDC6
canSAR (ICR)CCDC6 (select the gene name)
PubMed55 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Oct 12 16:23:42 CEST 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us