Atlas of Genetics and Cytogenetics in Oncology and Haematology


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HEATR1 (HEAT repeat containing 1)

Identity

Alias_namessmall subunit (SSU) processome component
homolog (yeast)
Alias_symbol (synonym)FLJ10359
BAP28
UTP10
Other alias
HGNC (Hugo) HEATR1
LocusID (NCBI) 55127
Atlas_Id 55190
Location 1q43  [Link to chromosome band 1q43]
Location_base_pair Starts at 236549005 and ends at 236604541 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)
ERO1B (1q42.3) / HEATR1 (1q43)ERO1LB HEATR1 1q43

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)HEATR1   25517
Cards
Entrez_Gene (NCBI)HEATR1  55127  HEAT repeat containing 1
AliasesBAP28; UTP10
GeneCards (Weizmann)HEATR1
Ensembl hg19 (Hinxton)ENSG00000119285 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000119285 [Gene_View]  ENSG00000119285 [Sequence]  chr1:236549005-236604541 [Contig_View]  HEATR1 [Vega]
ICGC DataPortalENSG00000119285
TCGA cBioPortalHEATR1
AceView (NCBI)HEATR1
Genatlas (Paris)HEATR1
WikiGenes55127
SOURCE (Princeton)HEATR1
Genetics Home Reference (NIH)HEATR1
Genomic and cartography
GoldenPath hg38 (UCSC)HEATR1  -     chr1:236549005-236604541 -  1q43   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HEATR1  -     1q43   [Description]    (hg19-Feb_2009)
EnsemblHEATR1 - 1q43 [CytoView hg19]  HEATR1 - 1q43 [CytoView hg38]
Mapping of homologs : NCBIHEATR1 [Mapview hg19]  HEATR1 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK001221 AK001857 AK095692 AK098212 AK125663
RefSeq transcript (Entrez)NM_018072
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HEATR1
Cluster EST : UnigeneHs.708114 [ NCBI ]
CGAP (NCI)Hs.708114
Alternative Splicing GalleryENSG00000119285
Gene ExpressionHEATR1 [ NCBI-GEO ]   HEATR1 [ EBI - ARRAY_EXPRESS ]   HEATR1 [ SEEK ]   HEATR1 [ MEM ]
Gene Expression Viewer (FireBrowse)HEATR1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55127
GTEX Portal (Tissue expression)HEATR1
Human Protein AtlasENSG00000119285-HEATR1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H583   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H583  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H583
Splice isoforms : SwissVarQ9H583
PhosPhoSitePlusQ9H583
Domains : Interpro (EBI)ARM-like    ARM-type_fold    BP28_C_dom    U3snoRNP10   
Domain families : Pfam (Sanger)BP28CT (PF08146)    U3snoRNP10 (PF12397)   
Domain families : Pfam (NCBI)pfam08146    pfam12397   
Domain families : Smart (EMBL)BP28CT (SM01036)  
Conserved Domain (NCBI)HEATR1
DMDM Disease mutations55127
Blocks (Seattle)HEATR1
SuperfamilyQ9H583
Human Protein Atlas [tissue]ENSG00000119285-HEATR1 [tissue]
Peptide AtlasQ9H583
HPRD17569
IPIIPI00024279   IPI00641437   IPI00552253   
Protein Interaction databases
DIP (DOE-UCLA)Q9H583
IntAct (EBI)Q9H583
FunCoupENSG00000119285
BioGRIDHEATR1
STRING (EMBL)HEATR1
ZODIACHEATR1
Ontologies - Pathways
QuickGOQ9H583
Ontology : AmiGOmaturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)  fibrillar center  RNA binding  protein binding  nucleoplasm  nucleolus  mitochondrion  rRNA processing  membrane  snoRNA binding  90S preribosome  small-subunit processome  t-UTP complex  positive regulation of transcription by RNA polymerase I  positive regulation of transcription by RNA polymerase I  positive regulation of rRNA processing  
Ontology : EGO-EBImaturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)  fibrillar center  RNA binding  protein binding  nucleoplasm  nucleolus  mitochondrion  rRNA processing  membrane  snoRNA binding  90S preribosome  small-subunit processome  t-UTP complex  positive regulation of transcription by RNA polymerase I  positive regulation of transcription by RNA polymerase I  positive regulation of rRNA processing  
Pathways : KEGGRibosome biogenesis in eukaryotes   
NDEx NetworkHEATR1
Atlas of Cancer Signalling NetworkHEATR1
Wikipedia pathwaysHEATR1
Orthology - Evolution
OrthoDB55127
GeneTree (enSembl)ENSG00000119285
Phylogenetic Trees/Animal Genes : TreeFamHEATR1
HOVERGENQ9H583
HOGENOMQ9H583
Homologs : HomoloGeneHEATR1
Homology/Alignments : Family Browser (UCSC)HEATR1
Gene fusions - Rearrangements
Fusion : MitelmanERO1LB/1q43 [HEATR1/t(1;1)(q42;q43)]  
Fusion PortalERO1LB HEATR1 1q43 LUAD OV
Fusion : QuiverHEATR1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHEATR1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HEATR1
dbVarHEATR1
ClinVarHEATR1
1000_GenomesHEATR1 
Exome Variant ServerHEATR1
ExAC (Exome Aggregation Consortium)ENSG00000119285
GNOMAD BrowserENSG00000119285
Varsome BrowserHEATR1
Genetic variants : HAPMAP55127
Genomic Variants (DGV)HEATR1 [DGVbeta]
DECIPHERHEATR1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHEATR1 
Mutations
ICGC Data PortalHEATR1 
TCGA Data PortalHEATR1 
Broad Tumor PortalHEATR1
OASIS PortalHEATR1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHEATR1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHEATR1
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 HEATR1
DgiDB (Drug Gene Interaction Database)HEATR1
DoCM (Curated mutations)HEATR1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HEATR1 (select a term)
intoGenHEATR1
Cancer3DHEATR1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETHEATR1
MedgenHEATR1
Genetic Testing Registry HEATR1
NextProtQ9H583 [Medical]
TSGene55127
GENETestsHEATR1
Target ValidationHEATR1
Huge Navigator HEATR1 [HugePedia]
snp3D : Map Gene to Disease55127
BioCentury BCIQHEATR1
ClinGenHEATR1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55127
Chemical/Pharm GKB GenePA142671697
Clinical trialHEATR1
Miscellaneous
canSAR (ICR)HEATR1 (select the gene name)
Probes
Litterature
PubMed41 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHEATR1
EVEXHEATR1
GoPubMedHEATR1
iHOPHEATR1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Tue Nov 6 11:10:26 CET 2018

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