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ANKRD53 (ankyrin repeat domain 53)

Identity

Alias_symbol (synonym)FLJ12056
FLJ36160
Other alias-
HGNC (Hugo) ANKRD53
LocusID (NCBI) 79998
Atlas_Id 60358
Location 2p13.3  [Link to chromosome band 2p13]
Location_base_pair Starts at 70978445 and ends at 70985499 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

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)ANKRD53   25691
Cards
Entrez_Gene (NCBI)ANKRD53  79998  ankyrin repeat domain 53
Aliases
GeneCards (Weizmann)ANKRD53
Ensembl hg19 (Hinxton)ENSG00000144031 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000144031 [Gene_View]  chr2:70978445-70985499 [Contig_View]  ANKRD53 [Vega]
ICGC DataPortalENSG00000144031
TCGA cBioPortalANKRD53
AceView (NCBI)ANKRD53
Genatlas (Paris)ANKRD53
WikiGenes79998
SOURCE (Princeton)ANKRD53
Genetics Home Reference (NIH)ANKRD53
Genomic and cartography
GoldenPath hg38 (UCSC)ANKRD53  -     chr2:70978445-70985499 +  2p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ANKRD53  -     2p13.3   [Description]    (hg19-Feb_2009)
EnsemblANKRD53 - 2p13.3 [CytoView hg19]  ANKRD53 - 2p13.3 [CytoView hg38]
Mapping of homologs : NCBIANKRD53 [Mapview hg19]  ANKRD53 [Mapview hg38]
OMIM617009   
Gene and transcription
Genbank (Entrez)AK022118 AK093479 BC035234 DB036445
RefSeq transcript (Entrez)NM_001115116 NM_024933
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ANKRD53
Cluster EST : UnigeneHs.512744 [ NCBI ]
CGAP (NCI)Hs.512744
Alternative Splicing GalleryENSG00000144031
Gene ExpressionANKRD53 [ NCBI-GEO ]   ANKRD53 [ EBI - ARRAY_EXPRESS ]   ANKRD53 [ SEEK ]   ANKRD53 [ MEM ]
Gene Expression Viewer (FireBrowse)ANKRD53 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79998
GTEX Portal (Tissue expression)ANKRD53
Human Protein AtlasENSG00000144031-ANKRD53 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N9V6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N9V6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N9V6
Splice isoforms : SwissVarQ8N9V6
PhosPhoSitePlusQ8N9V6
Domaine pattern : Prosite (Expaxy)ANK_REP_REGION (PS50297)    ANK_REPEAT (PS50088)   
Domains : Interpro (EBI)Ankyrin_rpt    Ankyrin_rpt-contain_dom   
Domain families : Pfam (Sanger)Ank_2 (PF12796)   
Domain families : Pfam (NCBI)pfam12796   
Domain families : Smart (EMBL)ANK (SM00248)  
Conserved Domain (NCBI)ANKRD53
DMDM Disease mutations79998
Blocks (Seattle)ANKRD53
SuperfamilyQ8N9V6
Human Protein Atlas [tissue]ENSG00000144031-ANKRD53 [tissue]
Peptide AtlasQ8N9V6
HPRD07762
IPIIPI00410341   IPI00412425   IPI00925394   IPI00927878   
Protein Interaction databases
DIP (DOE-UCLA)Q8N9V6
IntAct (EBI)Q8N9V6
FunCoupENSG00000144031
BioGRIDANKRD53
STRING (EMBL)ANKRD53
ZODIACANKRD53
Ontologies - Pathways
QuickGOQ8N9V6
Ontology : AmiGOspindle pole  protein binding  cytoplasm  spindle  mitotic metaphase plate congression  positive regulation of microtubule polymerization  cell division  regulation of mitotic spindle organization  regulation of mitotic cytokinesis  
Ontology : EGO-EBIspindle pole  protein binding  cytoplasm  spindle  mitotic metaphase plate congression  positive regulation of microtubule polymerization  cell division  regulation of mitotic spindle organization  regulation of mitotic cytokinesis  
NDEx NetworkANKRD53
Atlas of Cancer Signalling NetworkANKRD53
Wikipedia pathwaysANKRD53
Orthology - Evolution
OrthoDB79998
GeneTree (enSembl)ENSG00000144031
Phylogenetic Trees/Animal Genes : TreeFamANKRD53
HOVERGENQ8N9V6
HOGENOMQ8N9V6
Homologs : HomoloGeneANKRD53
Homology/Alignments : Family Browser (UCSC)ANKRD53
Gene fusions - Rearrangements
Tumor Fusion PortalANKRD53
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerANKRD53 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ANKRD53
dbVarANKRD53
ClinVarANKRD53
1000_GenomesANKRD53 
Exome Variant ServerANKRD53
ExAC (Exome Aggregation Consortium)ENSG00000144031
GNOMAD BrowserENSG00000144031
Genetic variants : HAPMAP79998
Genomic Variants (DGV)ANKRD53 [DGVbeta]
DECIPHERANKRD53 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisANKRD53 
Mutations
ICGC Data PortalANKRD53 
TCGA Data PortalANKRD53 
Broad Tumor PortalANKRD53
OASIS PortalANKRD53 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICANKRD53  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDANKRD53
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 ANKRD53
DgiDB (Drug Gene Interaction Database)ANKRD53
DoCM (Curated mutations)ANKRD53 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ANKRD53 (select a term)
intoGenANKRD53
Cancer3DANKRD53(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM617009   
Orphanet
DisGeNETANKRD53
MedgenANKRD53
Genetic Testing Registry ANKRD53
NextProtQ8N9V6 [Medical]
TSGene79998
GENETestsANKRD53
Target ValidationANKRD53
Huge Navigator ANKRD53 [HugePedia]
snp3D : Map Gene to Disease79998
BioCentury BCIQANKRD53
ClinGenANKRD53
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD79998
Chemical/Pharm GKB GenePA144596517
Clinical trialANKRD53
Miscellaneous
canSAR (ICR)ANKRD53 (select the gene name)
Probes
Litterature
PubMed6 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineANKRD53
EVEXANKRD53
GoPubMedANKRD53
iHOPANKRD53
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Nov 20 19:18:43 CET 2017

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