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HBS1L (HBS1 like translational GTPase)

Identity

Alias_namesHBS1 (S. cerevisiae)-like
HBS1-like (S. cerevisiae)
HBS1-like translational GTPase
Alias_symbol (synonym)ERFS
HBS1
HSPC276
KIAA1038
DKFZp434g247
EF-1a
eRF3c
Other alias
HGNC (Hugo) HBS1L
LocusID (NCBI) 10767
Atlas_Id 64189
Location 6q23.3  [Link to chromosome band 6q23]
Location_base_pair Starts at 134960383 and ends at 135054898 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)
ATP5E (20q13.32) / HBS1L (6q23.3)HBS1L (6q23.3) / IL9 (5q31.1)PGBD5 (1q42.13) / HBS1L (6q23.3)
RNU11 (1p35.3) / HBS1L (6q23.3)SIDT1 (3q13.2) / HBS1L (6q23.3)

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(5;6)(q31;q23) HBS1L/IL9


External links

Nomenclature
HGNC (Hugo)HBS1L   4834
Cards
Entrez_Gene (NCBI)HBS1L  10767  HBS1 like translational GTPase
AliasesEF-1a; ERFS; HBS1; HSPC276; 
eRF3c
GeneCards (Weizmann)HBS1L
Ensembl hg19 (Hinxton)ENSG00000112339 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000112339 [Gene_View]  ENSG00000112339 [Sequence]  chr6:134960383-135054898 [Contig_View]  HBS1L [Vega]
ICGC DataPortalENSG00000112339
TCGA cBioPortalHBS1L
AceView (NCBI)HBS1L
Genatlas (Paris)HBS1L
WikiGenes10767
SOURCE (Princeton)HBS1L
Genetics Home Reference (NIH)HBS1L
Genomic and cartography
GoldenPath hg38 (UCSC)HBS1L  -     chr6:134960383-135054898 -  6q23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HBS1L  -     6q23.3   [Description]    (hg19-Feb_2009)
EnsemblHBS1L - 6q23.3 [CytoView hg19]  HBS1L - 6q23.3 [CytoView hg38]
Mapping of homologs : NCBIHBS1L [Mapview hg19]  HBS1L [Mapview hg38]
OMIM612450   
Gene and transcription
Genbank (Entrez)AB028961 AF161394 AJ420551 AJ459826 AJ459827
RefSeq transcript (Entrez)NM_001145158 NM_001145207 NM_006620
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HBS1L
Cluster EST : UnigeneHs.378532 [ NCBI ]
CGAP (NCI)Hs.378532
Alternative Splicing GalleryENSG00000112339
Gene ExpressionHBS1L [ NCBI-GEO ]   HBS1L [ EBI - ARRAY_EXPRESS ]   HBS1L [ SEEK ]   HBS1L [ MEM ]
Gene Expression Viewer (FireBrowse)HBS1L [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10767
GTEX Portal (Tissue expression)HBS1L
Human Protein AtlasENSG00000112339-HBS1L [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y450   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y450  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y450
Splice isoforms : SwissVarQ9Y450
PhosPhoSitePlusQ9Y450
Domaine pattern : Prosite (Expaxy)G_TR_2 (PS51722)   
Domains : Interpro (EBI)EFTu-like_2    HBS1-like_N    P-loop_NTPase    TF_GTP-bd_dom    Transl_B-barrel    Transl_elong_EF1A/Init_IF2_C    Transl_elong_EFTu/EF1A_C   
Domain families : Pfam (Sanger)GTP_EFTU_D2 (PF03144)    GTP_EFTU_D3 (PF03143)    HBS1_N (PF08938)   
Domain families : Pfam (NCBI)pfam03144    pfam03143    pfam08938   
Domain structure : Prodom (Prabi Lyon)DUF1916 (PD278081)   
Conserved Domain (NCBI)HBS1L
DMDM Disease mutations10767
Blocks (Seattle)HBS1L
PDB (SRS)5LZW    5LZX    5LZY    5LZZ   
PDB (PDBSum)5LZW    5LZX    5LZY    5LZZ   
PDB (IMB)5LZW    5LZX    5LZY    5LZZ   
PDB (RSDB)5LZW    5LZX    5LZY    5LZZ   
Structural Biology KnowledgeBase5LZW    5LZX    5LZY    5LZZ   
SCOP (Structural Classification of Proteins)5LZW    5LZX    5LZY    5LZZ   
CATH (Classification of proteins structures)5LZW    5LZX    5LZY    5LZZ   
SuperfamilyQ9Y450
Human Protein Atlas [tissue]ENSG00000112339-HBS1L [tissue]
Peptide AtlasQ9Y450
HPRD06582
IPIIPI00009070   IPI00168609   IPI00974576   IPI00984269   IPI01018039   IPI00642426   IPI00550360   IPI00922255   IPI00983593   IPI00981624   IPI00985454   IPI00977347   IPI00982316   IPI00973826   IPI00984766   IPI00975530   IPI00980122   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y450
IntAct (EBI)Q9Y450
FunCoupENSG00000112339
BioGRIDHBS1L
STRING (EMBL)HBS1L
ZODIACHBS1L
Ontologies - Pathways
QuickGOQ9Y450
Ontology : AmiGO###############################################################################################################################################################################################################################################################                      
Ontology : EGO-EBI###############################################################################################################################################################################################################################################################                      
NDEx NetworkHBS1L
Atlas of Cancer Signalling NetworkHBS1L
Wikipedia pathwaysHBS1L
Orthology - Evolution
OrthoDB10767
GeneTree (enSembl)ENSG00000112339
Phylogenetic Trees/Animal Genes : TreeFamHBS1L
HOVERGENQ9Y450
HOGENOMQ9Y450
Homologs : HomoloGeneHBS1L
Homology/Alignments : Family Browser (UCSC)HBS1L
Gene fusions - Rearrangements
Fusion : QuiverHBS1L
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHBS1L [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HBS1L
dbVarHBS1L
ClinVarHBS1L
1000_GenomesHBS1L 
Exome Variant ServerHBS1L
ExAC (Exome Aggregation Consortium)ENSG00000112339
GNOMAD BrowserENSG00000112339
Varsome BrowserHBS1L
Genetic variants : HAPMAP10767
Genomic Variants (DGV)HBS1L [DGVbeta]
DECIPHERHBS1L [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHBS1L 
Mutations
ICGC Data PortalHBS1L 
TCGA Data PortalHBS1L 
Broad Tumor PortalHBS1L
OASIS PortalHBS1L [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHBS1L  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHBS1L
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
LOVD (Leiden Open Variation Database)The Globin Gene Server
BioMutasearch HBS1L
DgiDB (Drug Gene Interaction Database)HBS1L
DoCM (Curated mutations)HBS1L (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HBS1L (select a term)
intoGenHBS1L
Cancer3DHBS1L(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612450   
Orphanet
DisGeNETHBS1L
MedgenHBS1L
Genetic Testing Registry HBS1L
NextProtQ9Y450 [Medical]
TSGene10767
GENETestsHBS1L
Target ValidationHBS1L
Huge Navigator HBS1L [HugePedia]
snp3D : Map Gene to Disease10767
BioCentury BCIQHBS1L
ClinGenHBS1L
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10767
Chemical/Pharm GKB GenePA29209
Clinical trialHBS1L
Miscellaneous
canSAR (ICR)HBS1L (select the gene name)
Probes
Litterature
PubMed1 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHBS1L
EVEXHBS1L
GoPubMedHBS1L
iHOPHBS1L
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 : Mon Jul 30 13:48:36 CEST 2018

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