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CCDC88C (coiled-coil domain containing 88C)

Identity

Alias_namesKIAA1509
KIAA1509
Alias_symbol (synonym)DAPLE
HkRP2
SCA40
Other aliasHKRP2
HGNC (Hugo) CCDC88C
LocusID (NCBI) 440193
Atlas_Id 42896
Location 14q32.11  [Link to chromosome band 14q32]
Location_base_pair Starts at 91737667 and ends at 91884188 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CCDC88C (14q32.11) / MXRA7 (17q25.1)CCDC88C (14q32.11) / PDGFRA (4q12)CCDC88C (14q32.11) / PDGFRB (5q32)
CCDC88C (14q32.11) / STK31 (7p15.3)CFL1 (11q13.1) / CCDC88C (14q32.11)HSPA13 (21q11.2) / CCDC88C (14q32.11)
NRSN2 (20p13) / CCDC88C (14q32.11)PPP1R13B (14q32.33) / CCDC88C (14q32.11)PPP1R13B 14q32.33 / CCDC88C 14q32.11

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(5;14)(q33;q32) PDGFRB/CCDC88C


External links

Nomenclature
HGNC (Hugo)CCDC88C   19967
Cards
Entrez_Gene (NCBI)CCDC88C  440193  coiled-coil domain containing 88C
AliasesDAPLE; HKRP2; KIAA1509; SCA40
GeneCards (Weizmann)CCDC88C
Ensembl hg19 (Hinxton)ENSG00000015133 [Gene_View]  chr14:91737667-91884188 [Contig_View]  CCDC88C [Vega]
Ensembl hg38 (Hinxton)ENSG00000015133 [Gene_View]  chr14:91737667-91884188 [Contig_View]  CCDC88C [Vega]
ICGC DataPortalENSG00000015133
TCGA cBioPortalCCDC88C
AceView (NCBI)CCDC88C
Genatlas (Paris)CCDC88C
WikiGenes440193
SOURCE (Princeton)CCDC88C
Genetics Home Reference (NIH)CCDC88C
Genomic and cartography
GoldenPath hg19 (UCSC)CCDC88C  -     chr14:91737667-91884188 -  14q32.11   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CCDC88C  -     14q32.11   [Description]    (hg38-Dec_2013)
EnsemblCCDC88C - 14q32.11 [CytoView hg19]  CCDC88C - 14q32.11 [CytoView hg38]
Mapping of homologs : NCBICCDC88C [Mapview hg19]  CCDC88C [Mapview hg38]
OMIM236600   611204   616053   
Gene and transcription
Genbank (Entrez)AF070587 AK022593 AK302839 AL137353 AL833046
RefSeq transcript (Entrez)NM_001080414
RefSeq genomic (Entrez)NC_000014 NC_018925 NG_033118 NT_026437 NW_004929393
Consensus coding sequences : CCDS (NCBI)CCDC88C
Cluster EST : UnigeneHs.525536 [ NCBI ]
CGAP (NCI)Hs.525536
Alternative Splicing GalleryENSG00000015133
Gene ExpressionCCDC88C [ NCBI-GEO ]   CCDC88C [ EBI - ARRAY_EXPRESS ]   CCDC88C [ SEEK ]   CCDC88C [ MEM ]
Gene Expression Viewer (FireBrowse)CCDC88C [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)440193
GTEX Portal (Tissue expression)CCDC88C
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9P219   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9P219  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9P219
Splice isoforms : SwissVarQ9P219
PhosPhoSitePlusQ9P219
Domains : Interpro (EBI)Daple    Hook-related_fam   
Domain families : Pfam (Sanger)HOOK (PF05622)   
Domain families : Pfam (NCBI)pfam05622   
Conserved Domain (NCBI)CCDC88C
DMDM Disease mutations440193
Blocks (Seattle)CCDC88C
SuperfamilyQ9P219
Human Protein AtlasENSG00000015133
Peptide AtlasQ9P219
IPIIPI00740019   IPI00029170   IPI00384031   IPI01015557   IPI00217770   IPI00740861   IPI01025522   IPI01024913   
Protein Interaction databases
DIP (DOE-UCLA)Q9P219
IntAct (EBI)Q9P219
FunCoupENSG00000015133
BioGRIDCCDC88C
STRING (EMBL)CCDC88C
ZODIACCCDC88C
Ontologies - Pathways
QuickGOQ9P219
Ontology : AmiGOregulation of protein phosphorylation  cytoplasm  Wnt signaling pathway  PDZ domain binding  stress-activated protein kinase signaling cascade  protein destabilization  protein self-association  protein homooligomerization  
Ontology : EGO-EBIregulation of protein phosphorylation  cytoplasm  Wnt signaling pathway  PDZ domain binding  stress-activated protein kinase signaling cascade  protein destabilization  protein self-association  protein homooligomerization  
NDEx NetworkCCDC88C
Atlas of Cancer Signalling NetworkCCDC88C
Wikipedia pathwaysCCDC88C
Orthology - Evolution
OrthoDB440193
GeneTree (enSembl)ENSG00000015133
Phylogenetic Trees/Animal Genes : TreeFamCCDC88C
HOVERGENQ9P219
HOGENOMQ9P219
Homologs : HomoloGeneCCDC88C
Homology/Alignments : Family Browser (UCSC)CCDC88C
Gene fusions - Rearrangements
Fusion : MitelmanCCDC88C/PDGFRB [14q32.11/5q32]  
Fusion : MitelmanPPP1R13B/CCDC88C [14q32.33/14q32.11]  [t(14;14)(q32;q32)]  
Fusion: TCGAPPP1R13B 14q32.33 CCDC88C 14q32.11 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCCDC88C [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CCDC88C
dbVarCCDC88C
ClinVarCCDC88C
1000_GenomesCCDC88C 
Exome Variant ServerCCDC88C
ExAC (Exome Aggregation Consortium)CCDC88C (select the gene name)
Genetic variants : HAPMAP440193
Genomic Variants (DGV)CCDC88C [DGVbeta]
DECIPHER (Syndromes)14:91737667-91884188  ENSG00000015133
CONAN: Copy Number AnalysisCCDC88C 
Mutations
ICGC Data PortalCCDC88C 
TCGA Data PortalCCDC88C 
Broad Tumor PortalCCDC88C
OASIS PortalCCDC88C [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCCDC88C  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCCDC88C
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 CCDC88C
DgiDB (Drug Gene Interaction Database)CCDC88C
DoCM (Curated mutations)CCDC88C (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CCDC88C (select a term)
intoGenCCDC88C
Cancer3DCCDC88C(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM236600    611204    616053   
Orphanet20253    23151   
MedgenCCDC88C
Genetic Testing Registry CCDC88C
NextProtQ9P219 [Medical]
TSGene440193
GENETestsCCDC88C
Huge Navigator CCDC88C [HugePedia]
snp3D : Map Gene to Disease440193
BioCentury BCIQCCDC88C
ClinGenCCDC88C
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD440193
Chemical/Pharm GKB GenePA162381879
Clinical trialCCDC88C
Miscellaneous
canSAR (ICR)CCDC88C (select the gene name)
Probes
Litterature
PubMed25 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCCDC88C
EVEXCCDC88C
GoPubMedCCDC88C
iHOPCCDC88C
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 14:55:18 CEST 2017

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