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AQR (aquarius intron-binding spliceosomal factor)

Identity

Alias (NCBI)IBP160
fSAP164
HGNC (Hugo) AQR
HGNC Alias symbKIAA0560
fSAP164
IBP160
HGNC Alias namefunctional spliceosome-associated protein 164
HGNC Previous nameaquarius homolog (mouse)
LocusID (NCBI) 9716
Atlas_Id 55464
Location 15q14  [Link to chromosome band 15q14]
Location_base_pair Starts at 34851782 and ends at 34969742 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)
AQR (15q14) / FARSB (2q36.1)

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)AQR   29513
Cards
Entrez_Gene (NCBI)AQR  9716  aquarius intron-binding spliceosomal factor
AliasesIBP160; fSAP164
GeneCards (Weizmann)AQR
Ensembl hg19 (Hinxton)ENSG00000021776 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000021776 [Gene_View]  ENSG00000021776 [Sequence]  chr15:34851782-34969742 [Contig_View]  AQR [Vega]
ICGC DataPortalENSG00000021776
TCGA cBioPortalAQR
AceView (NCBI)AQR
Genatlas (Paris)AQR
WikiGenes9716
SOURCE (Princeton)AQR
Genetics Home Reference (NIH)AQR
Genomic and cartography
GoldenPath hg38 (UCSC)AQR  -     chr15:34851782-34969742 -  15q14   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AQR  -     15q14   [Description]    (hg19-Feb_2009)
GoldenPathAQR - 15q14 [CytoView hg19]  AQR - 15q14 [CytoView hg38]
ImmunoBaseENSG00000021776
genome Data Viewer NCBIAQR [Mapview hg19]  
OMIM610548   
Gene and transcription
Genbank (Entrez)AB011132 AK001173 AK291615 AK315815 AL703893
RefSeq transcript (Entrez)NM_014691
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)AQR
Alternative Splicing GalleryENSG00000021776
Gene ExpressionAQR [ NCBI-GEO ]   AQR [ EBI - ARRAY_EXPRESS ]   AQR [ SEEK ]   AQR [ MEM ]
Gene Expression Viewer (FireBrowse)AQR [ Firebrowse - Broad ]
GenevisibleExpression of AQR in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9716
GTEX Portal (Tissue expression)AQR
Human Protein AtlasENSG00000021776-AQR [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO60306   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO60306  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO60306
Splice isoforms : SwissVarO60306
PhosPhoSitePlusO60306
Domains : Interpro (EBI)Aquarius_N    CWF11_fam    DNA2/NAM7-like_AAA    DNA2/NAM7_AAA_11    P-loop_NTPase   
Domain families : Pfam (Sanger)AAA_11 (PF13086)    AAA_12 (PF13087)    Aquarius_N (PF16399)   
Domain families : Pfam (NCBI)pfam13086    pfam13087    pfam16399   
Conserved Domain (NCBI)AQR
DMDM Disease mutations9716
Blocks (Seattle)AQR
PDB (RSDB)4PJ3    5MQF    5XJC    5YZG    5Z56    5Z57    6FF7    6ICZ    6ID0    6ID1    6QDV   
PDB Europe4PJ3    5MQF    5XJC    5YZG    5Z56    5Z57    6FF7    6ICZ    6ID0    6ID1    6QDV   
PDB (PDBSum)4PJ3    5MQF    5XJC    5YZG    5Z56    5Z57    6FF7    6ICZ    6ID0    6ID1    6QDV   
PDB (IMB)4PJ3    5MQF    5XJC    5YZG    5Z56    5Z57    6FF7    6ICZ    6ID0    6ID1    6QDV   
Structural Biology KnowledgeBase4PJ3    5MQF    5XJC    5YZG    5Z56    5Z57    6FF7    6ICZ    6ID0    6ID1    6QDV   
SCOP (Structural Classification of Proteins)4PJ3    5MQF    5XJC    5YZG    5Z56    5Z57    6FF7    6ICZ    6ID0    6ID1    6QDV   
CATH (Classification of proteins structures)4PJ3    5MQF    5XJC    5YZG    5Z56    5Z57    6FF7    6ICZ    6ID0    6ID1    6QDV   
SuperfamilyO60306
Human Protein Atlas [tissue]ENSG00000021776-AQR [tissue]
Peptide AtlasO60306
HPRD12468
IPIIPI00796835   IPI00297572   
Protein Interaction databases
DIP (DOE-UCLA)O60306
IntAct (EBI)O60306
FunCoupENSG00000021776
BioGRIDAQR
STRING (EMBL)AQR
ZODIACAQR
Ontologies - Pathways
QuickGOO60306
Ontology : AmiGOmRNA splicing, via spliceosome  mRNA splicing, via spliceosome  mRNA splicing, via spliceosome  RNA binding  RNA binding  RNA helicase activity  mRNA binding  protein binding  ATP binding  nucleus  nucleus  nucleoplasm  nucleoplasm  spliceosomal complex  transcription-coupled nucleotide-excision repair  membrane  U2-type catalytic step 2 spliceosome  catalytic step 2 spliceosome  catalytic step 2 spliceosome  
Ontology : EGO-EBImRNA splicing, via spliceosome  mRNA splicing, via spliceosome  mRNA splicing, via spliceosome  RNA binding  RNA binding  RNA helicase activity  mRNA binding  protein binding  ATP binding  nucleus  nucleus  nucleoplasm  nucleoplasm  spliceosomal complex  transcription-coupled nucleotide-excision repair  membrane  U2-type catalytic step 2 spliceosome  catalytic step 2 spliceosome  catalytic step 2 spliceosome  
Pathways : KEGGSpliceosome   
NDEx NetworkAQR
Atlas of Cancer Signalling NetworkAQR
Wikipedia pathwaysAQR
Orthology - Evolution
OrthoDB9716
GeneTree (enSembl)ENSG00000021776
Phylogenetic Trees/Animal Genes : TreeFamAQR
HOGENOMO60306
Homologs : HomoloGeneAQR
Homology/Alignments : Family Browser (UCSC)AQR
Gene fusions - Rearrangements
Fusion : QuiverAQR
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAQR [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AQR
dbVarAQR
ClinVarAQR
MonarchAQR
1000_GenomesAQR 
Exome Variant ServerAQR
GNOMAD BrowserENSG00000021776
Varsome BrowserAQR
Genetic variants : HAPMAP9716
Genomic Variants (DGV)AQR [DGVbeta]
DECIPHERAQR [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAQR 
Mutations
ICGC Data PortalAQR 
TCGA Data PortalAQR 
Broad Tumor PortalAQR
OASIS PortalAQR [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAQR  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DAQR
Mutations and Diseases : HGMDAQR
intOGen PortalAQR
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 AQR
DgiDB (Drug Gene Interaction Database)AQR
DoCM (Curated mutations)AQR (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AQR (select a term)
intoGenAQR
Cancer3DAQR(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610548   
Orphanet
DisGeNETAQR
MedgenAQR
Genetic Testing Registry AQR
NextProtO60306 [Medical]
TSGene9716
GENETestsAQR
Target ValidationAQR
Huge Navigator AQR [HugePedia]
snp3D : Map Gene to Disease9716
BioCentury BCIQAQR
ClinGenAQR
Clinical trials, drugs, therapy
Protein Interactions : CTD9716
Pharm GKB GenePA134869224
Clinical trialAQR
Miscellaneous
canSAR (ICR)AQR (select the gene name)
HarmonizomeAQR
DataMed IndexAQR
Probes
Litterature
PubMed53 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAQR
EVEXAQR
GoPubMedAQR
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 14 14:01:53 CEST 2020

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