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HJURP (Holliday junction recognition protein)

Identity

Alias_symbol (synonym)DKFZp762E1312
URLC9
hFLEG1
FAKTS
Other alias
HGNC (Hugo) HJURP
LocusID (NCBI) 55355
Atlas_Id 49810
Location 2q37.1  [Link to chromosome band 2q37]
Location_base_pair Starts at 233836701 and ends at 233854566 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)
EIF4E2 (2q37.1) / HJURP (2q37.1)HJURP (2q37.1) / EIF4E2 (2q37.1)HJURP (2q37.1) / HJURP (2q37.1)
HJURP (2q37.1) / INPP4A (2q11.2)INPP4A (2q11.2) / HJURP (2q37.1)SNED1 (2q37.3) / HJURP (2q37.1)
SNED1 2q37.3 / HJURP 2q37.1

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Prostate tumors: an overview


External links

Nomenclature
HGNC (Hugo)HJURP   25444
Cards
Entrez_Gene (NCBI)HJURP  55355  Holliday junction recognition protein
AliasesFAKTS; URLC9; hFLEG1
GeneCards (Weizmann)HJURP
Ensembl hg19 (Hinxton)ENSG00000123485 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000123485 [Gene_View]  chr2:233836701-233854566 [Contig_View]  HJURP [Vega]
ICGC DataPortalENSG00000123485
TCGA cBioPortalHJURP
AceView (NCBI)HJURP
Genatlas (Paris)HJURP
WikiGenes55355
SOURCE (Princeton)HJURP
Genetics Home Reference (NIH)HJURP
Genomic and cartography
GoldenPath hg38 (UCSC)HJURP  -     chr2:233836701-233854566 -  2q37.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HJURP  -     2q37.1   [Description]    (hg19-Feb_2009)
EnsemblHJURP - 2q37.1 [CytoView hg19]  HJURP - 2q37.1 [CytoView hg38]
Mapping of homologs : NCBIHJURP [Mapview hg19]  HJURP [Mapview hg38]
OMIM612667   
Gene and transcription
Genbank (Entrez)AB101211 AB162218 AK074809 AK301643 AK303109
RefSeq transcript (Entrez)NM_001282962 NM_001282963 NM_018410
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HJURP
Cluster EST : UnigeneHs.532968 [ NCBI ]
CGAP (NCI)Hs.532968
Alternative Splicing GalleryENSG00000123485
Gene ExpressionHJURP [ NCBI-GEO ]   HJURP [ EBI - ARRAY_EXPRESS ]   HJURP [ SEEK ]   HJURP [ MEM ]
Gene Expression Viewer (FireBrowse)HJURP [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55355
GTEX Portal (Tissue expression)HJURP
Human Protein AtlasENSG00000123485-HJURP [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NCD3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NCD3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NCD3
Splice isoforms : SwissVarQ8NCD3
PhosPhoSitePlusQ8NCD3
Domains : Interpro (EBI)HJURP    HJURP_C    Scm3/HJURP   
Domain families : Pfam (Sanger)HJURP_C (PF12347)    HJURP_mid (PF12346)    Scm3 (PF10384)   
Domain families : Pfam (NCBI)pfam12347    pfam12346    pfam10384   
Conserved Domain (NCBI)HJURP
DMDM Disease mutations55355
Blocks (Seattle)HJURP
PDB (SRS)3R45   
PDB (PDBSum)3R45   
PDB (IMB)3R45   
PDB (RSDB)3R45   
Structural Biology KnowledgeBase3R45   
SCOP (Structural Classification of Proteins)3R45   
CATH (Classification of proteins structures)3R45   
SuperfamilyQ8NCD3
Human Protein Atlas [tissue]ENSG00000123485-HJURP [tissue]
Peptide AtlasQ8NCD3
IPIIPI00301465   IPI00930368   IPI00894061   IPI00657982   IPI00893887   IPI00910145   
Protein Interaction databases
DIP (DOE-UCLA)Q8NCD3
IntAct (EBI)Q8NCD3
FunCoupENSG00000123485
BioGRIDHJURP
STRING (EMBL)HJURP
ZODIACHJURP
Ontologies - Pathways
QuickGOQ8NCD3
Ontology : AmiGOchromosome, centromeric region  condensed chromosome kinetochore  DNA binding  protein binding  nucleus  nucleoplasm  nucleolus  mitochondrion  cytosol  cell cycle  chromosome segregation  CENP-A containing nucleosome assembly  CENP-A containing nucleosome assembly  histone binding  histone binding  identical protein binding  regulation of protein complex assembly  regulation of DNA binding  
Ontology : EGO-EBIchromosome, centromeric region  condensed chromosome kinetochore  DNA binding  protein binding  nucleus  nucleoplasm  nucleolus  mitochondrion  cytosol  cell cycle  chromosome segregation  CENP-A containing nucleosome assembly  CENP-A containing nucleosome assembly  histone binding  histone binding  identical protein binding  regulation of protein complex assembly  regulation of DNA binding  
NDEx NetworkHJURP
Atlas of Cancer Signalling NetworkHJURP
Wikipedia pathwaysHJURP
Orthology - Evolution
OrthoDB55355
GeneTree (enSembl)ENSG00000123485
Phylogenetic Trees/Animal Genes : TreeFamHJURP
HOVERGENQ8NCD3
HOGENOMQ8NCD3
Homologs : HomoloGeneHJURP
Homology/Alignments : Family Browser (UCSC)HJURP
Gene fusions - Rearrangements
Fusion : MitelmanHJURP/EIF4E2 [2q37.1/2q37.1]  
Fusion : MitelmanINPP4A/HJURP [2q11.2/2q37.1]  [t(2;2)(q11;q37)]  
Fusion : MitelmanSNED1/HJURP [2q37.3/2q37.1]  [t(2;2)(q37;q37)]  
Fusion: TCGA_MDACCSNED1 2q37.3 HJURP 2q37.1 BRCA
Tumor Fusion PortalHJURP
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHJURP [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HJURP
dbVarHJURP
ClinVarHJURP
1000_GenomesHJURP 
Exome Variant ServerHJURP
ExAC (Exome Aggregation Consortium)ENSG00000123485
GNOMAD BrowserENSG00000123485
Genetic variants : HAPMAP55355
Genomic Variants (DGV)HJURP [DGVbeta]
DECIPHERHJURP [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHJURP 
Mutations
ICGC Data PortalHJURP 
TCGA Data PortalHJURP 
Broad Tumor PortalHJURP
OASIS PortalHJURP [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHJURP  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHJURP
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 HJURP
DgiDB (Drug Gene Interaction Database)HJURP
DoCM (Curated mutations)HJURP (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HJURP (select a term)
intoGenHJURP
Cancer3DHJURP(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612667   
Orphanet
DisGeNETHJURP
MedgenHJURP
Genetic Testing Registry HJURP
NextProtQ8NCD3 [Medical]
TSGene55355
GENETestsHJURP
Target ValidationHJURP
Huge Navigator HJURP [HugePedia]
snp3D : Map Gene to Disease55355
BioCentury BCIQHJURP
ClinGenHJURP
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55355
Chemical/Pharm GKB GenePA162390937
Clinical trialHJURP
Miscellaneous
canSAR (ICR)HJURP (select the gene name)
Probes
Litterature
PubMed38 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHJURP
EVEXHJURP
GoPubMedHJURP
iHOPHJURP
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 : Tue Nov 21 14:16:17 CET 2017

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