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ALKBH5 (alkB homolog 5, RNA demethylase)

Identity

Alias_namesOFOXD1
oxoglutarate and iron-dependent oxygenase domain containing
alkB, alkylation repair homolog 5 (E. coli)
AlkB family member 5, RNA demethylase
Alias_symbol (synonym)FLJ20308
Other aliasABH5
OFOXD
HGNC (Hugo) ALKBH5
LocusID (NCBI) 54890
Atlas_Id 43079
Location 17p11.2  [Link to chromosome band 17p11]
Location_base_pair Starts at 18183553 and ends at 18209953 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ALKBH5 (17p11.2) / UBR5 (8q22.3)CNDP2 (18q22.3) / ALKBH5 (17p11.2)KIAA0100 (17q11.2) / ALKBH5 (17p11.2)
LLGL1 (17p11.2) / ALKBH5 (17p11.2)LRP5 (11q13.2) / ALKBH5 (17p11.2)TSEN15 (1q25.3) / ALKBH5 (17p11.2)
UBR5 (8q22.3) / ALKBH5 (17p11.2)KIAA0100 17q11.2 / ALKBH5 17p11.2LLGL1 17p11.2 / ALKBH5 17p11.2
LRP5 11q13.2 / ALKBH5 17p11.2

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 ]
  Lung: Translocations in Squamous Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)ALKBH5   25996
Cards
Entrez_Gene (NCBI)ALKBH5  54890  alkB homolog 5, RNA demethylase
AliasesABH5; OFOXD; OFOXD1
GeneCards (Weizmann)ALKBH5
Ensembl hg19 (Hinxton)ENSG00000091542 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000091542 [Gene_View]  chr17:18183553-18209953 [Contig_View]  ALKBH5 [Vega]
ICGC DataPortalENSG00000091542
TCGA cBioPortalALKBH5
AceView (NCBI)ALKBH5
Genatlas (Paris)ALKBH5
WikiGenes54890
SOURCE (Princeton)ALKBH5
Genetics Home Reference (NIH)ALKBH5
Genomic and cartography
GoldenPath hg38 (UCSC)ALKBH5  -     chr17:18183553-18209953 +  17p11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ALKBH5  -     17p11.2   [Description]    (hg19-Feb_2009)
EnsemblALKBH5 - 17p11.2 [CytoView hg19]  ALKBH5 - 17p11.2 [CytoView hg38]
Mapping of homologs : NCBIALKBH5 [Mapview hg19]  ALKBH5 [Mapview hg38]
OMIM613303   
Gene and transcription
Genbank (Entrez)AK000129 AK000315 AK025817 AK301107 AK311161
RefSeq transcript (Entrez)NM_017758
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ALKBH5
Cluster EST : UnigeneHs.744130 [ NCBI ]
CGAP (NCI)Hs.744130
Alternative Splicing GalleryENSG00000091542
Gene ExpressionALKBH5 [ NCBI-GEO ]   ALKBH5 [ EBI - ARRAY_EXPRESS ]   ALKBH5 [ SEEK ]   ALKBH5 [ MEM ]
Gene Expression Viewer (FireBrowse)ALKBH5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)54890
GTEX Portal (Tissue expression)ALKBH5
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6P6C2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6P6C2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6P6C2
Splice isoforms : SwissVarQ6P6C2
PhosPhoSitePlusQ6P6C2
Domains : Interpro (EBI)AlkB-like    ALKBH5   
Domain families : Pfam (Sanger)2OG-FeII_Oxy_2 (PF13532)   
Domain families : Pfam (NCBI)pfam13532   
Conserved Domain (NCBI)ALKBH5
DMDM Disease mutations54890
Blocks (Seattle)ALKBH5
PDB (SRS)4NJ4    4NRM    4NRO    4NRP    4NRQ    4O61    4O7X    4OCT   
PDB (PDBSum)4NJ4    4NRM    4NRO    4NRP    4NRQ    4O61    4O7X    4OCT   
PDB (IMB)4NJ4    4NRM    4NRO    4NRP    4NRQ    4O61    4O7X    4OCT   
PDB (RSDB)4NJ4    4NRM    4NRO    4NRP    4NRQ    4O61    4O7X    4OCT   
Structural Biology KnowledgeBase4NJ4    4NRM    4NRO    4NRP    4NRQ    4O61    4O7X    4OCT   
SCOP (Structural Classification of Proteins)4NJ4    4NRM    4NRO    4NRP    4NRQ    4O61    4O7X    4OCT   
CATH (Classification of proteins structures)4NJ4    4NRM    4NRO    4NRP    4NRQ    4O61    4O7X    4OCT   
SuperfamilyQ6P6C2
Human Protein AtlasENSG00000091542
Peptide AtlasQ6P6C2
HPRD08621
IPIIPI00759562   IPI00413659   IPI01009848   
Protein Interaction databases
DIP (DOE-UCLA)Q6P6C2
IntAct (EBI)Q6P6C2
FunCoupENSG00000091542
BioGRIDALKBH5
STRING (EMBL)ALKBH5
ZODIACALKBH5
Ontologies - Pathways
QuickGOQ6P6C2
Ontology : AmiGOresponse to hypoxia  RNA binding  nucleus  nucleoplasm  nucleoplasm  Golgi apparatus  cytosol  DNA dealkylation involved in DNA repair  mRNA processing  mRNA export from nucleus  spermatogenesis  nuclear speck  oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors  cell differentiation  oxidative RNA demethylase activity  oxidative RNA demethylase activity  oxidative single-stranded RNA demethylation  metal ion binding  
Ontology : EGO-EBIresponse to hypoxia  RNA binding  nucleus  nucleoplasm  nucleoplasm  Golgi apparatus  cytosol  DNA dealkylation involved in DNA repair  mRNA processing  mRNA export from nucleus  spermatogenesis  nuclear speck  oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors  cell differentiation  oxidative RNA demethylase activity  oxidative RNA demethylase activity  oxidative single-stranded RNA demethylation  metal ion binding  
NDEx NetworkALKBH5
Atlas of Cancer Signalling NetworkALKBH5
Wikipedia pathwaysALKBH5
Orthology - Evolution
OrthoDB54890
GeneTree (enSembl)ENSG00000091542
Phylogenetic Trees/Animal Genes : TreeFamALKBH5
HOVERGENQ6P6C2
HOGENOMQ6P6C2
Homologs : HomoloGeneALKBH5
Homology/Alignments : Family Browser (UCSC)ALKBH5
Gene fusions - Rearrangements
Fusion : MitelmanKIAA0100/ALKBH5 [17q11.2/17p11.2]  [t(17;17)(p11;q11)]  
Fusion : MitelmanLLGL1/ALKBH5 [17p11.2/17p11.2]  [t(17;17)(p11;p11)]  
Fusion : MitelmanLRP5/ALKBH5 [11q13.2/17p11.2]  [t(11;17)(q13;p11)]  
Fusion: TCGAKIAA0100 17q11.2 ALKBH5 17p11.2 LUSC
Fusion: TCGALLGL1 17p11.2 ALKBH5 17p11.2 THCA
Fusion: TCGALRP5 11q13.2 ALKBH5 17p11.2 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerALKBH5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ALKBH5
dbVarALKBH5
ClinVarALKBH5
1000_GenomesALKBH5 
Exome Variant ServerALKBH5
ExAC (Exome Aggregation Consortium)ALKBH5 (select the gene name)
Genetic variants : HAPMAP54890
Genomic Variants (DGV)ALKBH5 [DGVbeta]
DECIPHERALKBH5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisALKBH5 
Mutations
ICGC Data PortalALKBH5 
TCGA Data PortalALKBH5 
Broad Tumor PortalALKBH5
OASIS PortalALKBH5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICALKBH5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDALKBH5
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 ALKBH5
DgiDB (Drug Gene Interaction Database)ALKBH5
DoCM (Curated mutations)ALKBH5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ALKBH5 (select a term)
intoGenALKBH5
Cancer3DALKBH5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM613303   
Orphanet
MedgenALKBH5
Genetic Testing Registry ALKBH5
NextProtQ6P6C2 [Medical]
TSGene54890
GENETestsALKBH5
Huge Navigator ALKBH5 [HugePedia]
snp3D : Map Gene to Disease54890
BioCentury BCIQALKBH5
ClinGenALKBH5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD54890
Chemical/Pharm GKB GenePA142671230
Clinical trialALKBH5
Miscellaneous
canSAR (ICR)ALKBH5 (select the gene name)
Probes
Litterature
PubMed20 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineALKBH5
EVEXALKBH5
GoPubMedALKBH5
iHOPALKBH5
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 : Fri May 19 12:05:44 CEST 2017

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