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ANKRD54 (ankyrin repeat domain 54)

Identity

Alias_symbol (synonym)LIAR
Other alias
HGNC (Hugo) ANKRD54
LocusID (NCBI) 129138
Atlas_Id 60359
Location 22q13.1  [Link to chromosome band 22q13]
Location_base_pair Starts at 37830855 and ends at 37849318 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)ANKRD54   25185
Cards
Entrez_Gene (NCBI)ANKRD54  129138  ankyrin repeat domain 54
AliasesLIAR
GeneCards (Weizmann)ANKRD54
Ensembl hg19 (Hinxton)ENSG00000100124 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000100124 [Gene_View]  chr22:37830855-37849318 [Contig_View]  ANKRD54 [Vega]
ICGC DataPortalENSG00000100124
TCGA cBioPortalANKRD54
AceView (NCBI)ANKRD54
Genatlas (Paris)ANKRD54
WikiGenes129138
SOURCE (Princeton)ANKRD54
Genetics Home Reference (NIH)ANKRD54
Genomic and cartography
GoldenPath hg38 (UCSC)ANKRD54  -     chr22:37830855-37849318 -  22q13.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ANKRD54  -     22q13.1   [Description]    (hg19-Feb_2009)
EnsemblANKRD54 - 22q13.1 [CytoView hg19]  ANKRD54 - 22q13.1 [CytoView hg38]
Mapping of homologs : NCBIANKRD54 [Mapview hg19]  ANKRD54 [Mapview hg38]
OMIM613383   
Gene and transcription
Genbank (Entrez)AK127583 BC014641 BC066909 BX401122 CD300696
RefSeq transcript (Entrez)NM_001349853 NM_138797
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ANKRD54
Cluster EST : UnigeneHs.135259 [ NCBI ]
CGAP (NCI)Hs.135259
Alternative Splicing GalleryENSG00000100124
Gene ExpressionANKRD54 [ NCBI-GEO ]   ANKRD54 [ EBI - ARRAY_EXPRESS ]   ANKRD54 [ SEEK ]   ANKRD54 [ MEM ]
Gene Expression Viewer (FireBrowse)ANKRD54 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)129138
GTEX Portal (Tissue expression)ANKRD54
Human Protein AtlasENSG00000100124-ANKRD54 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6NXT1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6NXT1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6NXT1
Splice isoforms : SwissVarQ6NXT1
PhosPhoSitePlusQ6NXT1
Domaine pattern : Prosite (Expaxy)ANK_REP_REGION (PS50297)    ANK_REPEAT (PS50088)   
Domains : Interpro (EBI)Ankyrin_rpt    Ankyrin_rpt-contain_dom   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Domain families : Smart (EMBL)ANK (SM00248)  
Conserved Domain (NCBI)ANKRD54
DMDM Disease mutations129138
Blocks (Seattle)ANKRD54
SuperfamilyQ6NXT1
Human Protein Atlas [tissue]ENSG00000100124-ANKRD54 [tissue]
Peptide AtlasQ6NXT1
HPRD14042
IPIIPI00025746   IPI00828207   IPI00877823   IPI00877667   IPI00878112   IPI00877956   IPI00878428   IPI00878279   IPI00878745   
Protein Interaction databases
DIP (DOE-UCLA)Q6NXT1
IntAct (EBI)Q6NXT1
FunCoupENSG00000100124
BioGRIDANKRD54
STRING (EMBL)ANKRD54
ZODIACANKRD54
Ontologies - Pathways
QuickGOQ6NXT1
Ontology : AmiGOprotein binding  nucleus  cytoplasm  nucleocytoplasmic transport  protein kinase regulator activity  midbody  protein complex binding  positive regulation of erythrocyte differentiation  regulation of protein kinase activity  regulation of intracellular signal transduction  
Ontology : EGO-EBIprotein binding  nucleus  cytoplasm  nucleocytoplasmic transport  protein kinase regulator activity  midbody  protein complex binding  positive regulation of erythrocyte differentiation  regulation of protein kinase activity  regulation of intracellular signal transduction  
NDEx NetworkANKRD54
Atlas of Cancer Signalling NetworkANKRD54
Wikipedia pathwaysANKRD54
Orthology - Evolution
OrthoDB129138
GeneTree (enSembl)ENSG00000100124
Phylogenetic Trees/Animal Genes : TreeFamANKRD54
HOVERGENQ6NXT1
HOGENOMQ6NXT1
Homologs : HomoloGeneANKRD54
Homology/Alignments : Family Browser (UCSC)ANKRD54
Gene fusions - Rearrangements
Fusion: Tumor Portal ANKRD54
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerANKRD54 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ANKRD54
dbVarANKRD54
ClinVarANKRD54
1000_GenomesANKRD54 
Exome Variant ServerANKRD54
ExAC (Exome Aggregation Consortium)ENSG00000100124
GNOMAD BrowserENSG00000100124
Genetic variants : HAPMAP129138
Genomic Variants (DGV)ANKRD54 [DGVbeta]
DECIPHERANKRD54 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisANKRD54 
Mutations
ICGC Data PortalANKRD54 
TCGA Data PortalANKRD54 
Broad Tumor PortalANKRD54
OASIS PortalANKRD54 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICANKRD54  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDANKRD54
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ANKRD54
DgiDB (Drug Gene Interaction Database)ANKRD54
DoCM (Curated mutations)ANKRD54 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ANKRD54 (select a term)
intoGenANKRD54
Cancer3DANKRD54(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM613383   
Orphanet
MedgenANKRD54
Genetic Testing Registry ANKRD54
NextProtQ6NXT1 [Medical]
TSGene129138
GENETestsANKRD54
Target ValidationANKRD54
Huge Navigator ANKRD54 [HugePedia]
snp3D : Map Gene to Disease129138
BioCentury BCIQANKRD54
ClinGenANKRD54
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD129138
Chemical/Pharm GKB GenePA145149843
Clinical trialANKRD54
Miscellaneous
canSAR (ICR)ANKRD54 (select the gene name)
Probes
Litterature
PubMed10 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineANKRD54
EVEXANKRD54
GoPubMedANKRD54
iHOPANKRD54
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Nov 9 11:37:49 CET 2017

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