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ANKRD50 (ankyrin repeat domain 50)

Identity

Alias_symbol (synonym)KIAA1223
Other alias-
HGNC (Hugo) ANKRD50
LocusID (NCBI) 57182
Atlas_Id 60356
Location 4q28.1  [Link to chromosome band 4q28]
Location_base_pair Starts at 124664052 and ends at 124712732 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)
ANKRD50 (4q28.1) / ANKRD50 (4q28.1)

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)ANKRD50   29223
Cards
Entrez_Gene (NCBI)ANKRD50  57182  ankyrin repeat domain 50
Aliases
GeneCards (Weizmann)ANKRD50
Ensembl hg19 (Hinxton)ENSG00000151458 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000151458 [Gene_View]  chr4:124664052-124712732 [Contig_View]  ANKRD50 [Vega]
ICGC DataPortalENSG00000151458
TCGA cBioPortalANKRD50
AceView (NCBI)ANKRD50
Genatlas (Paris)ANKRD50
WikiGenes57182
SOURCE (Princeton)ANKRD50
Genetics Home Reference (NIH)ANKRD50
Genomic and cartography
GoldenPath hg38 (UCSC)ANKRD50  -     chr4:124664052-124712732 -  4q28.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ANKRD50  -     4q28.1   [Description]    (hg19-Feb_2009)
EnsemblANKRD50 - 4q28.1 [CytoView hg19]  ANKRD50 - 4q28.1 [CytoView hg38]
Mapping of homologs : NCBIANKRD50 [Mapview hg19]  ANKRD50 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AA628892 AB033049 AF075020 AK091516 AK127496
RefSeq transcript (Entrez)NM_001167882 NM_020337
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ANKRD50
Cluster EST : UnigeneHs.480694 [ NCBI ]
CGAP (NCI)Hs.480694
Alternative Splicing GalleryENSG00000151458
Gene ExpressionANKRD50 [ NCBI-GEO ]   ANKRD50 [ EBI - ARRAY_EXPRESS ]   ANKRD50 [ SEEK ]   ANKRD50 [ MEM ]
Gene Expression Viewer (FireBrowse)ANKRD50 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57182
GTEX Portal (Tissue expression)ANKRD50
Human Protein AtlasENSG00000151458-ANKRD50 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9ULJ7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9ULJ7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9ULJ7
Splice isoforms : SwissVarQ9ULJ7
PhosPhoSitePlusQ9ULJ7
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 (PF00023)    Ank_2 (PF12796)   
Domain families : Pfam (NCBI)pfam00023    pfam12796   
Domain families : Smart (EMBL)ANK (SM00248)  
Conserved Domain (NCBI)ANKRD50
DMDM Disease mutations57182
Blocks (Seattle)ANKRD50
SuperfamilyQ9ULJ7
Human Protein Atlas [tissue]ENSG00000151458-ANKRD50 [tissue]
Peptide AtlasQ9ULJ7
HPRD13843
IPIIPI00221285   IPI00954520   
Protein Interaction databases
DIP (DOE-UCLA)Q9ULJ7
IntAct (EBI)Q9ULJ7
FunCoupENSG00000151458
BioGRIDANKRD50
STRING (EMBL)ANKRD50
ZODIACANKRD50
Ontologies - Pathways
QuickGOQ9ULJ7
Ontology : AmiGOprotein binding  endosome  intracellular protein transport  retrograde transport, endosome to plasma membrane  
Ontology : EGO-EBIprotein binding  endosome  intracellular protein transport  retrograde transport, endosome to plasma membrane  
NDEx NetworkANKRD50
Atlas of Cancer Signalling NetworkANKRD50
Wikipedia pathwaysANKRD50
Orthology - Evolution
OrthoDB57182
GeneTree (enSembl)ENSG00000151458
Phylogenetic Trees/Animal Genes : TreeFamANKRD50
HOVERGENQ9ULJ7
HOGENOMQ9ULJ7
Homologs : HomoloGeneANKRD50
Homology/Alignments : Family Browser (UCSC)ANKRD50
Gene fusions - Rearrangements
Tumor Fusion PortalANKRD50
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerANKRD50 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ANKRD50
dbVarANKRD50
ClinVarANKRD50
1000_GenomesANKRD50 
Exome Variant ServerANKRD50
ExAC (Exome Aggregation Consortium)ENSG00000151458
GNOMAD BrowserENSG00000151458
Genetic variants : HAPMAP57182
Genomic Variants (DGV)ANKRD50 [DGVbeta]
DECIPHERANKRD50 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisANKRD50 
Mutations
ICGC Data PortalANKRD50 
TCGA Data PortalANKRD50 
Broad Tumor PortalANKRD50
OASIS PortalANKRD50 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICANKRD50  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDANKRD50
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 ANKRD50
DgiDB (Drug Gene Interaction Database)ANKRD50
DoCM (Curated mutations)ANKRD50 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ANKRD50 (select a term)
intoGenANKRD50
Cancer3DANKRD50(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETANKRD50
MedgenANKRD50
Genetic Testing Registry ANKRD50
NextProtQ9ULJ7 [Medical]
TSGene57182
GENETestsANKRD50
Target ValidationANKRD50
Huge Navigator ANKRD50 [HugePedia]
snp3D : Map Gene to Disease57182
BioCentury BCIQANKRD50
ClinGenANKRD50
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57182
Chemical/Pharm GKB GenePA128394695
Clinical trialANKRD50
Miscellaneous
canSAR (ICR)ANKRD50 (select the gene name)
Probes
Litterature
PubMed12 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineANKRD50
EVEXANKRD50
GoPubMedANKRD50
iHOPANKRD50
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 Nov 21 13:09:35 CET 2017

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