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CCDC88A (coiled-coil domain containing 88A)

Identity

Alias_namesKIAA1212
KIAA1212
Alias_symbol (synonym)FLJ10392
APE
GIV
HkRP1
GRDN
Other aliasGIRDIN
PEHO
HGNC (Hugo) CCDC88A
LocusID (NCBI) 55704
Atlas_Id 50215
Location 2p16.1  [Link to chromosome band 2p16]
Location_base_pair Starts at 55287842 and ends at 55419921 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CCDC88A (2p16.1) / CCDC88A (2p16.1)CCDC88A (2p16.1) / MLLT4-AS1 (6q27)CCDC88A (2p16.1) / RPL37A (2q35)
SNTG2 (2p25.3) / CCDC88A (2p16.1)SRBD1 (2p21) / CCDC88A (2p16.1)ZNF91 (19p12) / CCDC88A (2p16.1)
SRBD1 2p21 / CCDC88A 2p16.1ZNF91 19p12 / CCDC88A 2p16.1

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

 


External links

Nomenclature
HGNC (Hugo)CCDC88A   25523
Cards
Entrez_Gene (NCBI)CCDC88A  55704  coiled-coil domain containing 88A
AliasesAPE; GIRDIN; GIV; GRDN; 
HkRP1; KIAA1212; PEHO
GeneCards (Weizmann)CCDC88A
Ensembl hg19 (Hinxton)ENSG00000115355 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000115355 [Gene_View]  chr2:55287842-55419921 [Contig_View]  CCDC88A [Vega]
ICGC DataPortalENSG00000115355
TCGA cBioPortalCCDC88A
AceView (NCBI)CCDC88A
Genatlas (Paris)CCDC88A
WikiGenes55704
SOURCE (Princeton)CCDC88A
Genetics Home Reference (NIH)CCDC88A
Genomic and cartography
GoldenPath hg38 (UCSC)CCDC88A  -     chr2:55287842-55419921 -  2p16.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CCDC88A  -     2p16.1   [Description]    (hg19-Feb_2009)
EnsemblCCDC88A - 2p16.1 [CytoView hg19]  CCDC88A - 2p16.1 [CytoView hg38]
Mapping of homologs : NCBICCDC88A [Mapview hg19]  CCDC88A [Mapview hg38]
OMIM260565   609736   
Gene and transcription
Genbank (Entrez)###############################################################################################################################################################################################################################################################
RefSeq transcript (Entrez)NM_001135597 NM_001254943 NM_018084
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CCDC88A
Cluster EST : UnigeneHs.292925 [ NCBI ]
CGAP (NCI)Hs.292925
Alternative Splicing GalleryENSG00000115355
Gene ExpressionCCDC88A [ NCBI-GEO ]   CCDC88A [ EBI - ARRAY_EXPRESS ]   CCDC88A [ SEEK ]   CCDC88A [ MEM ]
Gene Expression Viewer (FireBrowse)CCDC88A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55704
GTEX Portal (Tissue expression)CCDC88A
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ3V6T2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ3V6T2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ3V6T2
Splice isoforms : SwissVarQ3V6T2
PhosPhoSitePlusQ3V6T2
Domains : Interpro (EBI)Girdin    Hook-related_fam   
Domain families : Pfam (Sanger)HOOK (PF05622)   
Domain families : Pfam (NCBI)pfam05622   
Conserved Domain (NCBI)CCDC88A
DMDM Disease mutations55704
Blocks (Seattle)CCDC88A
SuperfamilyQ3V6T2
Human Protein AtlasENSG00000115355
Peptide AtlasQ3V6T2
HPRD10051
IPIIPI00171134   IPI00654603   IPI00943263   IPI00893288   IPI00893194   IPI00892916   IPI00893019   IPI00893693   
Protein Interaction databases
DIP (DOE-UCLA)Q3V6T2
IntAct (EBI)Q3V6T2
FunCoupENSG00000115355
BioGRIDCCDC88A
STRING (EMBL)CCDC88A
ZODIACCCDC88A
Ontologies - Pathways
QuickGOQ3V6T2
Ontology : AmiGOregulation of protein phosphorylation  actin binding  endoplasmic reticulum  Golgi apparatus  centrosome  centriole  cytosol  plasma membrane  DNA replication  regulation of DNA replication  microtubule binding  microtubule binding  regulation of neuron projection development  membrane  cell migration  lamellipodium  lamellipodium assembly  cytoskeleton-dependent intracellular transport  cytoplasmic microtubule organization  cytoplasmic vesicle  TOR signaling  activation of protein kinase B activity  regulation of actin cytoskeleton organization  phosphatidylinositol binding  ciliary basal body  regulation of cell proliferation  protein homodimerization activity  protein kinase B binding  positive regulation of cilium assembly  dynein light intermediate chain binding  membrane organization  positive regulation of protein localization to cilium  
Ontology : EGO-EBIregulation of protein phosphorylation  actin binding  endoplasmic reticulum  Golgi apparatus  centrosome  centriole  cytosol  plasma membrane  DNA replication  regulation of DNA replication  microtubule binding  microtubule binding  regulation of neuron projection development  membrane  cell migration  lamellipodium  lamellipodium assembly  cytoskeleton-dependent intracellular transport  cytoplasmic microtubule organization  cytoplasmic vesicle  TOR signaling  activation of protein kinase B activity  regulation of actin cytoskeleton organization  phosphatidylinositol binding  ciliary basal body  regulation of cell proliferation  protein homodimerization activity  protein kinase B binding  positive regulation of cilium assembly  dynein light intermediate chain binding  membrane organization  positive regulation of protein localization to cilium  
NDEx NetworkCCDC88A
Atlas of Cancer Signalling NetworkCCDC88A
Wikipedia pathwaysCCDC88A
Orthology - Evolution
OrthoDB55704
GeneTree (enSembl)ENSG00000115355
Phylogenetic Trees/Animal Genes : TreeFamCCDC88A
HOVERGENQ3V6T2
HOGENOMQ3V6T2
Homologs : HomoloGeneCCDC88A
Homology/Alignments : Family Browser (UCSC)CCDC88A
Gene fusions - Rearrangements
Fusion : MitelmanSRBD1/CCDC88A [2p21/2p16.1]  [t(2;2)(p16;p21)]  
Fusion : MitelmanZNF91/CCDC88A [19p12/2p16.1]  [t(2;19)(p16;p12)]  
Fusion: TCGASRBD1 2p21 CCDC88A 2p16.1 BRCA
Fusion: TCGAZNF91 19p12 CCDC88A 2p16.1 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCCDC88A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CCDC88A
dbVarCCDC88A
ClinVarCCDC88A
1000_GenomesCCDC88A 
Exome Variant ServerCCDC88A
ExAC (Exome Aggregation Consortium)CCDC88A (select the gene name)
Genetic variants : HAPMAP55704
Genomic Variants (DGV)CCDC88A [DGVbeta]
DECIPHERCCDC88A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCCDC88A 
Mutations
ICGC Data PortalCCDC88A 
TCGA Data PortalCCDC88A 
Broad Tumor PortalCCDC88A
OASIS PortalCCDC88A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCCDC88A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCCDC88A
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 CCDC88A
DgiDB (Drug Gene Interaction Database)CCDC88A
DoCM (Curated mutations)CCDC88A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CCDC88A (select a term)
intoGenCCDC88A
Cancer3DCCDC88A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM260565    609736   
Orphanet14380   
MedgenCCDC88A
Genetic Testing Registry CCDC88A
NextProtQ3V6T2 [Medical]
TSGene55704
GENETestsCCDC88A
Target ValidationCCDC88A
Huge Navigator CCDC88A [HugePedia]
snp3D : Map Gene to Disease55704
BioCentury BCIQCCDC88A
ClinGenCCDC88A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55704
Chemical/Pharm GKB GenePA162381751
Clinical trialCCDC88A
Miscellaneous
canSAR (ICR)CCDC88A (select the gene name)
Probes
Litterature
PubMed74 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCCDC88A
EVEXCCDC88A
GoPubMedCCDC88A
iHOPCCDC88A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 1 16:57:00 CEST 2017

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