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KLHDC8B (kelch domain containing 8B)

Identity

Alias_symbol (synonym)MGC35097
Other aliasCHL
HGNC (Hugo) KLHDC8B
LocusID (NCBI) 200942
Atlas_Id 51227
Location 3p21.31  [Link to chromosome band 3p21]
Location_base_pair Starts at 49209018 and ends at 49213919 bp from pter ( according to hg19-Feb_2009)

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)KLHDC8B   28557
Cards
Entrez_Gene (NCBI)KLHDC8B  200942  kelch domain containing 8B
AliasesCHL
GeneCards (Weizmann)KLHDC8B
Ensembl hg19 (Hinxton)ENSG00000185909 [Gene_View]  chr3:49209018-49213919 [Contig_View]  KLHDC8B [Vega]
Ensembl hg38 (Hinxton)ENSG00000185909 [Gene_View]  chr3:49209018-49213919 [Contig_View]  KLHDC8B [Vega]
ICGC DataPortalENSG00000185909
TCGA cBioPortalKLHDC8B
AceView (NCBI)KLHDC8B
Genatlas (Paris)KLHDC8B
WikiGenes200942
SOURCE (Princeton)KLHDC8B
Genetics Home Reference (NIH)KLHDC8B
Genomic and cartography
GoldenPath hg19 (UCSC)KLHDC8B  -     chr3:49209018-49213919 +  3p21.31   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)KLHDC8B  -     3p21.31   [Description]    (hg38-Dec_2013)
EnsemblKLHDC8B - 3p21.31 [CytoView hg19]  KLHDC8B - 3p21.31 [CytoView hg38]
Mapping of homologs : NCBIKLHDC8B [Mapview hg19]  KLHDC8B [Mapview hg38]
OMIM246000   613169   
Gene and transcription
Genbank (Entrez)AK002164 AK294160 AY129011 BC013110 BC039083
RefSeq transcript (Entrez)NM_173546
RefSeq genomic (Entrez)NC_000003 NC_018914 NG_027702 NT_022517 NW_004929309
Consensus coding sequences : CCDS (NCBI)KLHDC8B
Cluster EST : UnigeneHs.13781 [ NCBI ]
CGAP (NCI)Hs.13781
Alternative Splicing GalleryENSG00000185909
Gene ExpressionKLHDC8B [ NCBI-GEO ]   KLHDC8B [ EBI - ARRAY_EXPRESS ]   KLHDC8B [ SEEK ]   KLHDC8B [ MEM ]
Gene Expression Viewer (FireBrowse)KLHDC8B [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)200942
GTEX Portal (Tissue expression)KLHDC8B
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IXV7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8IXV7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8IXV7
Splice isoforms : SwissVarQ8IXV7
PhosPhoSitePlusQ8IXV7
Domains : Interpro (EBI)Kelch-typ_b-propeller    Kelch_1   
Domain families : Pfam (Sanger)Kelch_1 (PF01344)   
Domain families : Pfam (NCBI)pfam01344   
Domain families : Smart (EMBL)Kelch (SM00612)  
Conserved Domain (NCBI)KLHDC8B
DMDM Disease mutations200942
Blocks (Seattle)KLHDC8B
SuperfamilyQ8IXV7
Human Protein AtlasENSG00000185909
Peptide AtlasQ8IXV7
HPRD14598
IPIIPI00293369   IPI00386557   
Protein Interaction databases
DIP (DOE-UCLA)Q8IXV7
IntAct (EBI)Q8IXV7
FunCoupENSG00000185909
BioGRIDKLHDC8B
STRING (EMBL)KLHDC8B
ZODIACKLHDC8B
Ontologies - Pathways
QuickGOQ8IXV7
Ontology : AmiGOcytoplasm  
Ontology : EGO-EBIcytoplasm  
NDEx NetworkKLHDC8B
Atlas of Cancer Signalling NetworkKLHDC8B
Wikipedia pathwaysKLHDC8B
Orthology - Evolution
OrthoDB200942
GeneTree (enSembl)ENSG00000185909
Phylogenetic Trees/Animal Genes : TreeFamKLHDC8B
HOVERGENQ8IXV7
HOGENOMQ8IXV7
Homologs : HomoloGeneKLHDC8B
Homology/Alignments : Family Browser (UCSC)KLHDC8B
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKLHDC8B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KLHDC8B
dbVarKLHDC8B
ClinVarKLHDC8B
1000_GenomesKLHDC8B 
Exome Variant ServerKLHDC8B
ExAC (Exome Aggregation Consortium)KLHDC8B (select the gene name)
Genetic variants : HAPMAP200942
Genomic Variants (DGV)KLHDC8B [DGVbeta]
DECIPHER (Syndromes)3:49209018-49213919  ENSG00000185909
CONAN: Copy Number AnalysisKLHDC8B 
Mutations
ICGC Data PortalKLHDC8B 
TCGA Data PortalKLHDC8B 
Broad Tumor PortalKLHDC8B
OASIS PortalKLHDC8B [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKLHDC8B  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKLHDC8B
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch KLHDC8B
DgiDB (Drug Gene Interaction Database)KLHDC8B
DoCM (Curated mutations)KLHDC8B (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KLHDC8B (select a term)
intoGenKLHDC8B
Cancer3DKLHDC8B(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM246000    613169   
Orphanet
MedgenKLHDC8B
Genetic Testing Registry KLHDC8B
NextProtQ8IXV7 [Medical]
TSGene200942
GENETestsKLHDC8B
Huge Navigator KLHDC8B [HugePedia]
snp3D : Map Gene to Disease200942
BioCentury BCIQKLHDC8B
ClinGenKLHDC8B
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD200942
Chemical/Pharm GKB GenePA142671584
Clinical trialKLHDC8B
Miscellaneous
canSAR (ICR)KLHDC8B (select the gene name)
Probes
Litterature
PubMed11 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKLHDC8B
EVEXKLHDC8B
GoPubMedKLHDC8B
iHOPKLHDC8B
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:12:04 CET 2017

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