Atlas of Genetics and Cytogenetics in Oncology and Haematology

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HEATR5A (HEAT repeat containing 5A)

Identity

Alias_namesC14orf125
chromosome 14 open reading frame 125
Alias_symbol (synonym)DKFZP434I1735
Other alias
HGNC (Hugo) HEATR5A
LocusID (NCBI) 25938
Atlas_Id 54356
Location 14q12  [Link to chromosome band 14q12]
Location_base_pair Starts at 31291788 and ends at 31420550 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)
HEATR5A (14q12) / COL1A1 (17q21.33)HEATR5A (14q12) / SCFD1 (14q12)

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) [ 1 ]
  t(14;17)(q12;q21) HEATR5A/COL1A1

External links

Nomenclature
HGNC (Hugo)HEATR5A   20276
Cards
Entrez_Gene (NCBI)HEATR5A  25938  HEAT repeat containing 5A
AliasesC14orf125
GeneCards (Weizmann)HEATR5A
Ensembl hg19 (Hinxton)ENSG00000129493 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000129493 [Gene_View]  ENSG00000129493 [Sequence]  chr14:31291788-31420550 [Contig_View]  HEATR5A [Vega]
ICGC DataPortalENSG00000129493
TCGA cBioPortalHEATR5A
AceView (NCBI)HEATR5A
Genatlas (Paris)HEATR5A
WikiGenes25938
SOURCE (Princeton)HEATR5A
Genetics Home Reference (NIH)HEATR5A
Genomic and cartography
GoldenPath hg38 (UCSC)HEATR5A  -     chr14:31291788-31420550 -  14q12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HEATR5A  -     14q12   [Description]    (hg19-Feb_2009)
GoldenPathHEATR5A - 14q12 [CytoView hg19]  HEATR5A - 14q12 [CytoView hg38]
ImmunoBaseENSG00000129493
Mapping of homologs : NCBIHEATR5A [Mapview hg19]  HEATR5A [Mapview hg38]
Gene and transcription
Genbank (Entrez)AA521333 AB037737 AK000343 AK023789 AK092400
RefSeq transcript (Entrez)NM_015473
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HEATR5A
Alternative Splicing GalleryENSG00000129493
Gene ExpressionHEATR5A [ NCBI-GEO ]   HEATR5A [ EBI - ARRAY_EXPRESS ]   HEATR5A [ SEEK ]   HEATR5A [ MEM ]
Gene Expression Viewer (FireBrowse)HEATR5A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)25938
GTEX Portal (Tissue expression)HEATR5A
Human Protein AtlasENSG00000129493-HEATR5A [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ86XA9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ86XA9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ86XA9
Splice isoforms : SwissVarQ86XA9
PhosPhoSitePlusQ86XA9
Domains : Interpro (EBI)ARM-type_fold    Laa1/Sip1/HEATR5   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)HEATR5A
DMDM Disease mutations25938
Blocks (Seattle)HEATR5A
SuperfamilyQ86XA9
Human Protein Atlas [tissue]ENSG00000129493-HEATR5A [tissue]
Peptide AtlasQ86XA9
IPIIPI00876909   IPI00329192   IPI00902500   IPI00939856   IPI01021102   IPI01020706   IPI01021750   IPI01022719   IPI01022552   IPI01013086   
Protein Interaction databases
DIP (DOE-UCLA)Q86XA9
IntAct (EBI)Q86XA9
FunCoupENSG00000129493
BioGRIDHEATR5A
STRING (EMBL)HEATR5A
ZODIACHEATR5A
Ontologies - Pathways
QuickGOQ86XA9
Ontology : AmiGOcytosol  endocytosis  protein localization  endocytic vesicle  retrograde transport, endosome to Golgi  
Ontology : EGO-EBIcytosol  endocytosis  protein localization  endocytic vesicle  retrograde transport, endosome to Golgi  
NDEx NetworkHEATR5A
Atlas of Cancer Signalling NetworkHEATR5A
Wikipedia pathwaysHEATR5A
Orthology - Evolution
OrthoDB25938
GeneTree (enSembl)ENSG00000129493
Phylogenetic Trees/Animal Genes : TreeFamHEATR5A
HOGENOMQ86XA9
Homologs : HomoloGeneHEATR5A
Homology/Alignments : Family Browser (UCSC)HEATR5A
Gene fusions - Rearrangements
Fusion : MitelmanHEATR5A/COL1A1 [14q12/17q21.33]  
Fusion : QuiverHEATR5A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHEATR5A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HEATR5A
dbVarHEATR5A
ClinVarHEATR5A
1000_GenomesHEATR5A 
Exome Variant ServerHEATR5A
ExAC (Exome Aggregation Consortium)ENSG00000129493
GNOMAD BrowserENSG00000129493
Varsome BrowserHEATR5A
Genetic variants : HAPMAP25938
Genomic Variants (DGV)HEATR5A [DGVbeta]
DECIPHERHEATR5A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHEATR5A 
Mutations
ICGC Data PortalHEATR5A 
TCGA Data PortalHEATR5A 
Broad Tumor PortalHEATR5A
OASIS PortalHEATR5A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHEATR5A  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DHEATR5A
Mutations and Diseases : HGMDHEATR5A
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 HEATR5A
DgiDB (Drug Gene Interaction Database)HEATR5A
DoCM (Curated mutations)HEATR5A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HEATR5A (select a term)
intoGenHEATR5A
Cancer3DHEATR5A(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETHEATR5A
MedgenHEATR5A
Genetic Testing Registry HEATR5A
NextProtQ86XA9 [Medical]
TSGene25938
GENETestsHEATR5A
Target ValidationHEATR5A
Huge Navigator HEATR5A [HugePedia]
snp3D : Map Gene to Disease25938
BioCentury BCIQHEATR5A
ClinGenHEATR5A
Clinical trials, drugs, therapy
Protein Interactions : CTD25938
Pharm GKB GenePA162390632
Clinical trialHEATR5A
Miscellaneous
canSAR (ICR)HEATR5A (select the gene name)
HarmonizomeHEATR5A
DataMed IndexHEATR5A
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHEATR5A
EVEXHEATR5A
GoPubMedHEATR5A
iHOPHEATR5A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Jun 30 20:18:00 CEST 2020
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