Atlas of Genetics and Cytogenetics in Oncology and Haematology

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HIRA (histone cell cycle regulator)

Identity

Alias (NCBI)DGCR1
TUP1
TUPLE1
HGNC (Hugo) HIRA
HGNC Alias symbDGCR1
TUP1
HGNC Alias nameDiGeorge critical region gene 1
HGNC Previous nameTUPLE1
HGNC Previous nameHIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)
 HIR histone cell cycle regulation defective homolog A (S. cerevisiae)
LocusID (NCBI) 7290
Atlas_Id 53629
Location 22q11.21  [Link to chromosome band 22q11]
Location_base_pair Starts at 19330699 and ends at 19431733 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

 

External links

Nomenclature
HGNC (Hugo)HIRA   4916
Cards
Entrez_Gene (NCBI)HIRA    histone cell cycle regulator
AliasesDGCR1; TUP1; TUPLE1
GeneCards (Weizmann)HIRA
Ensembl hg19 (Hinxton)ENSG00000100084 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000100084 [Gene_View]  ENSG00000100084 [Sequence]  chr22:19330699-19431733 [Contig_View]  HIRA [Vega]
ICGC DataPortalENSG00000100084
TCGA cBioPortalHIRA
AceView (NCBI)HIRA
Genatlas (Paris)HIRA
SOURCE (Princeton)HIRA
Genetics Home Reference (NIH)HIRA
Genomic and cartography
GoldenPath hg38 (UCSC)HIRA  -     chr22:19330699-19431733 -  22q11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HIRA  -     22q11.21   [Description]    (hg19-Feb_2009)
GoldenPathHIRA - 22q11.21 [CytoView hg19]  HIRA - 22q11.21 [CytoView hg38]
ImmunoBaseENSG00000100084
genome Data Viewer NCBIHIRA [Mapview hg19]  
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
Alternative Splicing GalleryENSG00000100084
Gene ExpressionHIRA [ NCBI-GEO ]   HIRA [ EBI - ARRAY_EXPRESS ]   HIRA [ SEEK ]   HIRA [ MEM ]
Gene Expression Viewer (FireBrowse)HIRA [ Firebrowse - Broad ]
GenevisibleExpression of HIRA 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    WD40/YVTN_repeat-like_dom_sf    WD40_repeat    WD40_repeat_CS    WD40_repeat_dom    WD40_repeat_dom_sf   
Domain families : Pfam (Sanger)Hira (PF07569)    WD40 (PF00400)   
Domain families : Pfam (NCBI)pfam07569    pfam00400   
Domain families : Smart (EMBL)WD40 (SM00320)  
Conserved Domain (NCBI)HIRA
Blocks (Seattle)HIRA
PDB (RSDB)2I32    5YJE   
PDB Europe2I32    5YJE   
PDB (PDBSum)2I32    5YJE   
PDB (IMB)2I32    5YJE   
Structural Biology KnowledgeBase2I32    5YJE   
SCOP (Structural Classification of Proteins)2I32    5YJE   
CATH (Classification of proteins structures)2I32    5YJE   
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
BioGRIDHIRA
STRING (EMBL)HIRA
ZODIACHIRA
Ontologies - Pathways
QuickGOP54198
Ontology : AmiGOHIR complex  chromatin  RNA polymerase II transcription factor binding  protein binding  nucleus  nucleoplasm  nucleoplasm  DNA replication-independent nucleosome assembly  DNA replication-independent nucleosome assembly  transcription, DNA-templated  regulation of transcription by RNA polymerase II  anatomical structure morphogenesis  PML body  nucleosome binding  protein-containing complex  histone binding  negative regulation of transcription, DNA-templated  extracellular exosome  
Ontology : EGO-EBIHIR complex  chromatin  RNA polymerase II transcription factor binding  protein binding  nucleus  nucleoplasm  nucleoplasm  DNA replication-independent nucleosome assembly  DNA replication-independent nucleosome assembly  transcription, DNA-templated  regulation of transcription by RNA polymerase II  anatomical structure morphogenesis  PML body  nucleosome binding  protein-containing complex  histone binding  negative regulation of transcription, DNA-templated  extracellular exosome  
NDEx NetworkHIRA
Atlas of Cancer Signalling NetworkHIRA
Wikipedia pathwaysHIRA
Orthology - Evolution
OrthoDB7290
GeneTree (enSembl)ENSG00000100084
Phylogenetic Trees/Animal Genes : TreeFamHIRA
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]  
Fusion : MitelmanHIRA/CABIN1 [22q11.21/22q11.23]  
Fusion : MitelmanHIRA/ZBTB16 [22q11.21/11q23.2]  
Fusion : MitelmanLONP2/HIRA [16q12.1/22q11.21]  
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]
dbVarHIRA
ClinVarHIRA
MonarchHIRA
1000_GenomesHIRA 
Exome Variant ServerHIRA
GNOMAD BrowserENSG00000100084
Varsome BrowserHIRA
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]  
Somatic Mutations in Cancer : COSMIC3DHIRA
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] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600237   
Orphanet126   
DisGeNETHIRA
MedgenHIRA
Genetic Testing Registry HIRA
NextProtP54198 [Medical]
GENETestsHIRA
Target ValidationHIRA
Huge Navigator HIRA [HugePedia]
ClinGenHIRA (curated)
Clinical trials, drugs, therapy
MyCancerGenomeHIRA
Protein Interactions : CTD
Pharm GKB GenePA29293
PharosP54198
Clinical trialHIRA
Miscellaneous
canSAR (ICR)HIRA (select the gene name)
HarmonizomeHIRA
DataMed IndexHIRA
Probes
Litterature
PubMed74 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXHIRA
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 25 19:25:02 CET 2021
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