Atlas of Genetics and Cytogenetics in Oncology and Haematology

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HIRA (histone cell cycle regulator)

Identity

Alias_namesTUPLE1
HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)
HIR histone cell cycle regulation defective homolog A (S. cerevisiae)
Alias_symbol (synonym)DGCR1
TUP1
Other alias
HGNC (Hugo) HIRA
LocusID (NCBI) 7290
Atlas_Id 53629
Location 22q11.21  [Link to chromosome band 22q11]
Location_base_pair Starts at 19330701 and ends at 19431696 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)
ABCA2 (9q34.3) / HIRA (22q11.21)HIRA (22q11.21) / ADAM2 (8p11.22)HIRA (22q11.21) / AGBL4 (1p33)
HIRA (22q11.21) / BCL2L13 (22q11.21)HIRA (22q11.21) / CABIN1 (22q11.23)HIRA (22q11.21) / FSTL1 (3q13.33)
HIRA (22q11.21) / HIRA (22q11.21)HIRA (22q11.21) / HSD11B2 (16q22.1)HIRA (22q11.21) / MTMR3 (22q12.2)
HIRA (22q11.21) / PHF19 (9q33.2)HIRA (22q11.21) / TG (8q24.22)HIRA (22q11.21) / UFD1L (22q11.21)
HIRA (22q11.21) / ZBTB16 (11q23.2)LARP1 (5q33.2) / HIRA (22q11.21)LONP2 (16q12.1) / HIRA (22q11.21)
MTMR3 (22q12.2) / HIRA (22q11.21)PDLIM5 (4q22.3) / HIRA (22q11.21)WAS (Xp11.23) / HIRA (22q11.21)
HIRA 22q11.21 / ADAM2 8p11.22HIRA 22q11.21 / BCL2L13 22q11.21HIRA 22q11.21 / CABIN1 22q11.23
HIRA 22q11.21 / ZBTB16 11q23.2LONP2 16q12.1 / HIRA 22q11.21

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 5 ]
  t(8;22)(p11;q11) HIRA/ADAM2
t(11;22)(q23;q11) HIRA/ZBTB16
t(16;22)(q12;q11) LONP2/HIRA
t(22;22)(q11;q11) HIRA/CABIN1
t(22;22)(q11;q11) HIRA/BCL2L13

External links

Nomenclature
HGNC (Hugo)HIRA   4916
Cards
Entrez_Gene (NCBI)HIRA  7290  histone cell cycle regulator
AliasesDGCR1; TUP1; TUPLE1
GeneCards (Weizmann)HIRA
Ensembl hg19 (Hinxton)ENSG00000100084 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000100084 [Gene_View]  ENSG00000100084 [Sequence]  chr22:19330701-19431696 [Contig_View]  HIRA [Vega]
ICGC DataPortalENSG00000100084
TCGA cBioPortalHIRA
AceView (NCBI)HIRA
Genatlas (Paris)HIRA
WikiGenes7290
SOURCE (Princeton)HIRA
Genetics Home Reference (NIH)HIRA
Genomic and cartography
GoldenPath hg38 (UCSC)HIRA  -     chr22:19330701-19431696 -  22q11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HIRA  -     22q11.21   [Description]    (hg19-Feb_2009)
EnsemblHIRA - 22q11.21 [CytoView hg19]  HIRA - 22q11.21 [CytoView hg38]
Mapping of homologs : NCBIHIRA [Mapview hg19]  HIRA [Mapview hg38]
OMIM600237   
Gene and transcription
Genbank (Entrez)AK289809 AK299950 AK302835 AK308642 BC032721
RefSeq transcript (Entrez)NM_003325
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HIRA
Cluster EST : UnigeneHs.474206 [ NCBI ]
CGAP (NCI)Hs.474206
Alternative Splicing GalleryENSG00000100084
Gene ExpressionHIRA [ NCBI-GEO ]   HIRA [ EBI - ARRAY_EXPRESS ]   HIRA [ SEEK ]   HIRA [ MEM ]
Gene Expression Viewer (FireBrowse)HIRA [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7290
GTEX Portal (Tissue expression)HIRA
Human Protein AtlasENSG00000100084-HIRA [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP54198   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP54198  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP54198
Splice isoforms : SwissVarP54198
PhosPhoSitePlusP54198
Domaine pattern : Prosite (Expaxy)WD_REPEATS_1 (PS00678)    WD_REPEATS_2 (PS50082)    WD_REPEATS_REGION (PS50294)   
Domains : Interpro (EBI)HIR1    Hira    HIRA_B_motif    WD40/YVTN_repeat-like_dom    WD40_repeat    WD40_repeat_CS    WD40_repeat_dom   
Domain families : Pfam (Sanger)Hira (PF07569)    HIRA_B (PF09453)    WD40 (PF00400)   
Domain families : Pfam (NCBI)pfam07569    pfam09453    pfam00400   
Domain families : Smart (EMBL)WD40 (SM00320)  
Conserved Domain (NCBI)HIRA
DMDM Disease mutations7290
Blocks (Seattle)HIRA
PDB (SRS)2I32   
PDB (PDBSum)2I32   
PDB (IMB)2I32   
PDB (RSDB)2I32   
Structural Biology KnowledgeBase2I32   
SCOP (Structural Classification of Proteins)2I32   
CATH (Classification of proteins structures)2I32   
SuperfamilyP54198
Human Protein Atlas [tissue]ENSG00000100084-HIRA [tissue]
Peptide AtlasP54198
HPRD02583
IPIIPI00217560   IPI00218434   IPI01012000   IPI00921972   IPI01012472   IPI00916156   
Protein Interaction databases
DIP (DOE-UCLA)P54198
IntAct (EBI)P54198
FunCoupENSG00000100084
BioGRIDHIRA
STRING (EMBL)HIRA
ZODIACHIRA
Ontologies - Pathways
QuickGOP54198
Ontology : AmiGOnuclear chromatin  osteoblast differentiation  DNA binding transcription factor activity  transcription corepressor activity  protein binding  nucleus  nucleoplasm  DNA replication-independent nucleosome assembly  transcription, DNA-templated  regulation of transcription by RNA polymerase II  gastrulation  anatomical structure morphogenesis  covalent chromatin modification  PML body  nucleosome binding  regulation of chromatin silencing  muscle cell differentiation  protein complex  extracellular exosome  negative regulation of nucleic acid-templated transcription  
Ontology : EGO-EBInuclear chromatin  osteoblast differentiation  DNA binding transcription factor activity  transcription corepressor activity  protein binding  nucleus  nucleoplasm  DNA replication-independent nucleosome assembly  transcription, DNA-templated  regulation of transcription by RNA polymerase II  gastrulation  anatomical structure morphogenesis  covalent chromatin modification  PML body  nucleosome binding  regulation of chromatin silencing  muscle cell differentiation  protein complex  extracellular exosome  negative regulation of nucleic acid-templated transcription  
NDEx NetworkHIRA
Atlas of Cancer Signalling NetworkHIRA
Wikipedia pathwaysHIRA
Orthology - Evolution
OrthoDB7290
GeneTree (enSembl)ENSG00000100084
Phylogenetic Trees/Animal Genes : TreeFamHIRA
HOVERGENP54198
HOGENOMP54198
Homologs : HomoloGeneHIRA
Homology/Alignments : Family Browser (UCSC)HIRA
Gene fusions - Rearrangements
Fusion : MitelmanHIRA/ADAM2 [22q11.21/8p11.22]  
Fusion : MitelmanHIRA/BCL2L13 [22q11.21/22q11.21]  [t(22;22)(q11;q11)]  
Fusion : MitelmanHIRA/CABIN1 [22q11.21/22q11.23]  [t(22;22)(q11;q11)]  
Fusion : MitelmanHIRA/ZBTB16 [22q11.21/11q23.2]  [t(11;22)(q23;q11)]  
Fusion : MitelmanLONP2/HIRA [16q12.1/22q11.21]  [t(16;22)(q12;q11)]  
Fusion PortalHIRA 22q11.21 ADAM2 8p11.22 LUAD
Fusion PortalHIRA 22q11.21 BCL2L13 22q11.21 HNSC
Fusion PortalHIRA 22q11.21 CABIN1 22q11.23 BRCA
Fusion PortalHIRA 22q11.21 ZBTB16 11q23.2 LGG
Fusion PortalLONP2 16q12.1 HIRA 22q11.21 LUAD
Fusion : QuiverHIRA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHIRA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HIRA
dbVarHIRA
ClinVarHIRA
1000_GenomesHIRA 
Exome Variant ServerHIRA
ExAC (Exome Aggregation Consortium)ENSG00000100084
GNOMAD BrowserENSG00000100084
Genetic variants : HAPMAP7290
Genomic Variants (DGV)HIRA [DGVbeta]
DECIPHERHIRA [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHIRA 
Mutations
ICGC Data PortalHIRA 
TCGA Data PortalHIRA 
Broad Tumor PortalHIRA
OASIS PortalHIRA [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHIRA  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHIRA
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 HIRA
DgiDB (Drug Gene Interaction Database)HIRA
DoCM (Curated mutations)HIRA (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HIRA (select a term)
intoGenHIRA
Cancer3DHIRA(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600237   
Orphanet126   
DisGeNETHIRA
MedgenHIRA
Genetic Testing Registry HIRA
NextProtP54198 [Medical]
TSGene7290
GENETestsHIRA
Target ValidationHIRA
Huge Navigator HIRA [HugePedia]
snp3D : Map Gene to Disease7290
BioCentury BCIQHIRA
ClinGenHIRA (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7290
Chemical/Pharm GKB GenePA29293
Clinical trialHIRA
Miscellaneous
canSAR (ICR)HIRA (select the gene name)
Probes
Litterature
PubMed56 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHIRA
EVEXHIRA
GoPubMedHIRA
iHOPHIRA
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 : Fri Jun 22 16:29:00 CEST 2018
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