Atlas of Genetics and Cytogenetics in Oncology and Haematology


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KLHL13 (kelch like family member 13)

Identity

Alias_namesBKLHD2
KIAA1309
BTB and kelch domain containing 2, KIAA1309
kelch-like 13 (Drosophila)
Alias_symbol (synonym)FLJ10262
Other alias
HGNC (Hugo) KLHL13
LocusID (NCBI) 90293
Atlas_Id 64961
Location Xq24  [Link to chromosome band Xq24]
Location_base_pair Starts at 117897813 and ends at 117985413 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)
U2AF1 (21q22.3) / KLHL13 (Xq24)

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)KLHL13   22931
Cards
Entrez_Gene (NCBI)KLHL13  90293  kelch like family member 13
AliasesBKLHD2
GeneCards (Weizmann)KLHL13
Ensembl hg19 (Hinxton)ENSG00000003096 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000003096 [Gene_View]  chrX:117897813-117985413 [Contig_View]  KLHL13 [Vega]
ICGC DataPortalENSG00000003096
TCGA cBioPortalKLHL13
AceView (NCBI)KLHL13
Genatlas (Paris)KLHL13
WikiGenes90293
SOURCE (Princeton)KLHL13
Genetics Home Reference (NIH)KLHL13
Genomic and cartography
GoldenPath hg38 (UCSC)KLHL13  -     chrX:117897813-117985413 -  Xq24   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KLHL13  -     Xq24   [Description]    (hg19-Feb_2009)
EnsemblKLHL13 - Xq24 [CytoView hg19]  KLHL13 - Xq24 [CytoView hg38]
Mapping of homologs : NCBIKLHL13 [Mapview hg19]  KLHL13 [Mapview hg38]
OMIM300655   
Gene and transcription
Genbank (Entrez)AB037730 AK001124 AK122724 AK125356 AK296324
RefSeq transcript (Entrez)NM_001168299 NM_001168300 NM_001168301 NM_001168302 NM_001168303 NM_033495
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KLHL13
Cluster EST : UnigeneHs.348262 [ NCBI ]
CGAP (NCI)Hs.348262
Alternative Splicing GalleryENSG00000003096
Gene ExpressionKLHL13 [ NCBI-GEO ]   KLHL13 [ EBI - ARRAY_EXPRESS ]   KLHL13 [ SEEK ]   KLHL13 [ MEM ]
Gene Expression Viewer (FireBrowse)KLHL13 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)90293
GTEX Portal (Tissue expression)KLHL13
Human Protein AtlasENSG00000003096-KLHL13 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9P2N7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9P2N7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9P2N7
Splice isoforms : SwissVarQ9P2N7
PhosPhoSitePlusQ9P2N7
Domaine pattern : Prosite (Expaxy)BTB (PS50097)   
Domains : Interpro (EBI)BACK    BTB-kelch_protein    BTB/POZ_dom    Gal_Oxidase_b-propeller    Kelch_1    SKP1/BTB/POZ   
Domain families : Pfam (Sanger)BACK (PF07707)    BTB (PF00651)    Kelch_1 (PF01344)   
Domain families : Pfam (NCBI)pfam07707    pfam00651    pfam01344   
Domain families : Smart (EMBL)BACK (SM00875)  BTB (SM00225)  Kelch (SM00612)  
Conserved Domain (NCBI)KLHL13
DMDM Disease mutations90293
Blocks (Seattle)KLHL13
SuperfamilyQ9P2N7
Human Protein Atlas [tissue]ENSG00000003096-KLHL13 [tissue]
Peptide AtlasQ9P2N7
HPRD06461
IPIIPI00644859   IPI00930289   IPI00930551   IPI00930469   IPI00002398   IPI00982881   IPI00642171   
Protein Interaction databases
DIP (DOE-UCLA)Q9P2N7
IntAct (EBI)Q9P2N7
FunCoupENSG00000003096
BioGRIDKLHL13
STRING (EMBL)KLHL13
ZODIACKLHL13
Ontologies - Pathways
QuickGOQ9P2N7
Ontology : AmiGOcytokinesis  ubiquitin-protein transferase activity  protein ubiquitination  protein ubiquitination  midbody  Cul3-RING ubiquitin ligase complex  
Ontology : EGO-EBIcytokinesis  ubiquitin-protein transferase activity  protein ubiquitination  protein ubiquitination  midbody  Cul3-RING ubiquitin ligase complex  
Pathways : KEGGUbiquitin mediated proteolysis   
NDEx NetworkKLHL13
Atlas of Cancer Signalling NetworkKLHL13
Wikipedia pathwaysKLHL13
Orthology - Evolution
OrthoDB90293
GeneTree (enSembl)ENSG00000003096
Phylogenetic Trees/Animal Genes : TreeFamKLHL13
HOVERGENQ9P2N7
HOGENOMQ9P2N7
Homologs : HomoloGeneKLHL13
Homology/Alignments : Family Browser (UCSC)KLHL13
Gene fusions - Rearrangements
Tumor Fusion PortalKLHL13
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKLHL13 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KLHL13
dbVarKLHL13
ClinVarKLHL13
1000_GenomesKLHL13 
Exome Variant ServerKLHL13
ExAC (Exome Aggregation Consortium)ENSG00000003096
GNOMAD BrowserENSG00000003096
Genetic variants : HAPMAP90293
Genomic Variants (DGV)KLHL13 [DGVbeta]
DECIPHERKLHL13 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKLHL13 
Mutations
ICGC Data PortalKLHL13 
TCGA Data PortalKLHL13 
Broad Tumor PortalKLHL13
OASIS PortalKLHL13 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKLHL13  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKLHL13
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)X-chromosome gene database
BioMutasearch KLHL13
DgiDB (Drug Gene Interaction Database)KLHL13
DoCM (Curated mutations)KLHL13 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KLHL13 (select a term)
intoGenKLHL13
Cancer3DKLHL13(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300655   
Orphanet
DisGeNETKLHL13
MedgenKLHL13
Genetic Testing Registry KLHL13
NextProtQ9P2N7 [Medical]
TSGene90293
GENETestsKLHL13
Target ValidationKLHL13
Huge Navigator KLHL13 [HugePedia]
snp3D : Map Gene to Disease90293
BioCentury BCIQKLHL13
ClinGenKLHL13
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD90293
Chemical/Pharm GKB GenePA134959204
Clinical trialKLHL13
Miscellaneous
canSAR (ICR)KLHL13 (select the gene name)
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKLHL13
EVEXKLHL13
GoPubMedKLHL13
iHOPKLHL13
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 13:59:50 CET 2017

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