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ANKS1A (ankyrin repeat and sterile alpha motif domain containing 1A)

Identity

Alias_namesANKS1
ankyrin repeat and SAM domain containing 1
ankyrin repeat and sterile alpha motif domain containing 1
Alias_symbol (synonym)KIAA0229
Other alias
HGNC (Hugo) ANKS1A
LocusID (NCBI) 23294
Atlas_Id 60369
Location 6p21.31  [Link to chromosome band 6p21]
Location_base_pair Starts at 34889261 and ends at 35091413 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)
ANKS1A (6p21.31) / KIAA1217 (10p12.2)ANKS1A (6p21.31) / MFAP4 (17p11.2)ANKS1A (6p21.31) / SLC7A8 (14q11.2)

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)ANKS1A   20961
Cards
Entrez_Gene (NCBI)ANKS1A  23294  ankyrin repeat and sterile alpha motif domain containing 1A
AliasesANKS1
GeneCards (Weizmann)ANKS1A
Ensembl hg19 (Hinxton)ENSG00000064999 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000064999 [Gene_View]  chr6:34889261-35091413 [Contig_View]  ANKS1A [Vega]
ICGC DataPortalENSG00000064999
TCGA cBioPortalANKS1A
AceView (NCBI)ANKS1A
Genatlas (Paris)ANKS1A
WikiGenes23294
SOURCE (Princeton)ANKS1A
Genetics Home Reference (NIH)ANKS1A
Genomic and cartography
GoldenPath hg38 (UCSC)ANKS1A  -     chr6:34889261-35091413 +  6p21.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ANKS1A  -     6p21.31   [Description]    (hg19-Feb_2009)
EnsemblANKS1A - 6p21.31 [CytoView hg19]  ANKS1A - 6p21.31 [CytoView hg38]
Mapping of homologs : NCBIANKS1A [Mapview hg19]  ANKS1A [Mapview hg38]
OMIM608994   
Gene and transcription
Genbank (Entrez)AK025381 AK298987 BC022396 BC031934 BC049213
RefSeq transcript (Entrez)NM_015245
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ANKS1A
Cluster EST : UnigeneHs.656492 [ NCBI ]
CGAP (NCI)Hs.656492
Alternative Splicing GalleryENSG00000064999
Gene ExpressionANKS1A [ NCBI-GEO ]   ANKS1A [ EBI - ARRAY_EXPRESS ]   ANKS1A [ SEEK ]   ANKS1A [ MEM ]
Gene Expression Viewer (FireBrowse)ANKS1A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23294
GTEX Portal (Tissue expression)ANKS1A
Human Protein AtlasENSG00000064999-ANKS1A [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92625   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ92625  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ92625
Splice isoforms : SwissVarQ92625
PhosPhoSitePlusQ92625
Domaine pattern : Prosite (Expaxy)ANK_REP_REGION (PS50297)    ANK_REPEAT (PS50088)    PID (PS01179)    SAM_DOMAIN (PS50105)   
Domains : Interpro (EBI)ANKS1    ANKS1A    Ankyrin_rpt    Ankyrin_rpt-contain_dom    PH_dom-like    PTB/PI_dom    SAM    SAM/pointed   
Domain families : Pfam (Sanger)Ank_2 (PF12796)    PID (PF00640)    SAM_1 (PF00536)    SAM_2 (PF07647)   
Domain families : Pfam (NCBI)pfam12796    pfam00640    pfam00536    pfam07647   
Domain families : Smart (EMBL)ANK (SM00248)  PTB (SM00462)  SAM (SM00454)  
Conserved Domain (NCBI)ANKS1A
DMDM Disease mutations23294
Blocks (Seattle)ANKS1A
PDB (SRS)2LMR    2MYQ   
PDB (PDBSum)2LMR    2MYQ   
PDB (IMB)2LMR    2MYQ   
PDB (RSDB)2LMR    2MYQ   
Structural Biology KnowledgeBase2LMR    2MYQ   
SCOP (Structural Classification of Proteins)2LMR    2MYQ   
CATH (Classification of proteins structures)2LMR    2MYQ   
SuperfamilyQ92625
Human Protein Atlas [tissue]ENSG00000064999-ANKS1A [tissue]
Peptide AtlasQ92625
HPRD10610
IPIIPI00395663   IPI01010329   IPI00641886   IPI01011748   
Protein Interaction databases
DIP (DOE-UCLA)Q92625
IntAct (EBI)Q92625
FunCoupENSG00000064999
BioGRIDANKS1A
STRING (EMBL)ANKS1A
ZODIACANKS1A
Ontologies - Pathways
QuickGOQ92625
Ontology : AmiGOprotein binding  nucleoplasm  cytosol  substrate-dependent cell migration  neuron remodeling  neuron projection  ephrin receptor binding  ephrin receptor signaling pathway  regulation of ephrin receptor signaling pathway  
Ontology : EGO-EBIprotein binding  nucleoplasm  cytosol  substrate-dependent cell migration  neuron remodeling  neuron projection  ephrin receptor binding  ephrin receptor signaling pathway  regulation of ephrin receptor signaling pathway  
NDEx NetworkANKS1A
Atlas of Cancer Signalling NetworkANKS1A
Wikipedia pathwaysANKS1A
Orthology - Evolution
OrthoDB23294
GeneTree (enSembl)ENSG00000064999
Phylogenetic Trees/Animal Genes : TreeFamANKS1A
HOVERGENQ92625
HOGENOMQ92625
Homologs : HomoloGeneANKS1A
Homology/Alignments : Family Browser (UCSC)ANKS1A
Gene fusions - Rearrangements
Fusion : QuiverANKS1A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerANKS1A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ANKS1A
dbVarANKS1A
ClinVarANKS1A
1000_GenomesANKS1A 
Exome Variant ServerANKS1A
ExAC (Exome Aggregation Consortium)ENSG00000064999
GNOMAD BrowserENSG00000064999
Genetic variants : HAPMAP23294
Genomic Variants (DGV)ANKS1A [DGVbeta]
DECIPHERANKS1A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisANKS1A 
Mutations
ICGC Data PortalANKS1A 
TCGA Data PortalANKS1A 
Broad Tumor PortalANKS1A
OASIS PortalANKS1A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICANKS1A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDANKS1A
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 ANKS1A
DgiDB (Drug Gene Interaction Database)ANKS1A
DoCM (Curated mutations)ANKS1A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ANKS1A (select a term)
intoGenANKS1A
Cancer3DANKS1A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608994   
Orphanet
DisGeNETANKS1A
MedgenANKS1A
Genetic Testing Registry ANKS1A
NextProtQ92625 [Medical]
TSGene23294
GENETestsANKS1A
Target ValidationANKS1A
Huge Navigator ANKS1A [HugePedia]
snp3D : Map Gene to Disease23294
BioCentury BCIQANKS1A
ClinGenANKS1A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23294
Chemical/Pharm GKB GenePA134958476
Clinical trialANKS1A
Miscellaneous
canSAR (ICR)ANKS1A (select the gene name)
Probes
Litterature
PubMed1 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineANKS1A
EVEXANKS1A
GoPubMedANKS1A
iHOPANKS1A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Feb 23 18:10:57 CET 2018

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