Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

KLHDC8A (kelch domain containing 8A)

Identity

Alias_symbol (synonym)FLJ10748
Other alias-
HGNC (Hugo) KLHDC8A
LocusID (NCBI) 55220
Atlas_Id 53085
Location 1q32.1  [Link to chromosome band 1q32]
Location_base_pair Starts at 205336065 and ends at 205357000 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)
PCMTD1 (8q11.23) / KLHDC8A (1q32.1)PCMTD1 8q11.23 / KLHDC8A 1q32.1

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 ]
  t(1;8)(q32;q11) PCMTD1/KLHDC8A


External links

Nomenclature
HGNC (Hugo)KLHDC8A   25573
Cards
Entrez_Gene (NCBI)KLHDC8A  55220  kelch domain containing 8A
Aliases
GeneCards (Weizmann)KLHDC8A
Ensembl hg19 (Hinxton)ENSG00000162873 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000162873 [Gene_View]  ENSG00000162873 [Sequence]  chr1:205336065-205357000 [Contig_View]  KLHDC8A [Vega]
ICGC DataPortalENSG00000162873
TCGA cBioPortalKLHDC8A
AceView (NCBI)KLHDC8A
Genatlas (Paris)KLHDC8A
WikiGenes55220
SOURCE (Princeton)KLHDC8A
Genetics Home Reference (NIH)KLHDC8A
Genomic and cartography
GoldenPath hg38 (UCSC)KLHDC8A  -     chr1:205336065-205357000 -  1q32.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KLHDC8A  -     1q32.1   [Description]    (hg19-Feb_2009)
EnsemblKLHDC8A - 1q32.1 [CytoView hg19]  KLHDC8A - 1q32.1 [CytoView hg38]
Mapping of homologs : NCBIKLHDC8A [Mapview hg19]  KLHDC8A [Mapview hg38]
OMIM614503   
Gene and transcription
Genbank (Entrez)AA908205 AI698122 AK001610 AK096590 AK299227
RefSeq transcript (Entrez)NM_001271863 NM_001271864 NM_001271865 NM_018203
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KLHDC8A
Cluster EST : UnigeneHs.745401 [ NCBI ]
CGAP (NCI)Hs.745401
Alternative Splicing GalleryENSG00000162873
Gene ExpressionKLHDC8A [ NCBI-GEO ]   KLHDC8A [ EBI - ARRAY_EXPRESS ]   KLHDC8A [ SEEK ]   KLHDC8A [ MEM ]
Gene Expression Viewer (FireBrowse)KLHDC8A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55220
GTEX Portal (Tissue expression)KLHDC8A
Human Protein AtlasENSG00000162873-KLHDC8A [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IYD2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8IYD2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8IYD2
Splice isoforms : SwissVarQ8IYD2
PhosPhoSitePlusQ8IYD2
Domains : Interpro (EBI)Gal_Oxase/kelch_b-propeller    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)KLHDC8A
DMDM Disease mutations55220
Blocks (Seattle)KLHDC8A
SuperfamilyQ8IYD2
Human Protein Atlas [tissue]ENSG00000162873-KLHDC8A [tissue]
Peptide AtlasQ8IYD2
HPRD07696
IPIIPI00646062   IPI00922795   
Protein Interaction databases
DIP (DOE-UCLA)Q8IYD2
IntAct (EBI)Q8IYD2
FunCoupENSG00000162873
BioGRIDKLHDC8A
STRING (EMBL)KLHDC8A
ZODIACKLHDC8A
Ontologies - Pathways
QuickGOQ8IYD2
Ontology : AmiGOubiquitin-protein transferase activity  protein ubiquitination  Cul3-RING ubiquitin ligase complex  
Ontology : EGO-EBIubiquitin-protein transferase activity  protein ubiquitination  Cul3-RING ubiquitin ligase complex  
NDEx NetworkKLHDC8A
Atlas of Cancer Signalling NetworkKLHDC8A
Wikipedia pathwaysKLHDC8A
Orthology - Evolution
OrthoDB55220
GeneTree (enSembl)ENSG00000162873
Phylogenetic Trees/Animal Genes : TreeFamKLHDC8A
HOVERGENQ8IYD2
HOGENOMQ8IYD2
Homologs : HomoloGeneKLHDC8A
Homology/Alignments : Family Browser (UCSC)KLHDC8A
Gene fusions - Rearrangements
Fusion : MitelmanPCMTD1/KLHDC8A [8q11.23/1q32.1]  [t(1;8)(q32;q11)]  
Fusion PortalPCMTD1 8q11.23 KLHDC8A 1q32.1 OV
Fusion : QuiverKLHDC8A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKLHDC8A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KLHDC8A
dbVarKLHDC8A
ClinVarKLHDC8A
1000_GenomesKLHDC8A 
Exome Variant ServerKLHDC8A
ExAC (Exome Aggregation Consortium)ENSG00000162873
GNOMAD BrowserENSG00000162873
Genetic variants : HAPMAP55220
Genomic Variants (DGV)KLHDC8A [DGVbeta]
DECIPHERKLHDC8A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKLHDC8A 
Mutations
ICGC Data PortalKLHDC8A 
TCGA Data PortalKLHDC8A 
Broad Tumor PortalKLHDC8A
OASIS PortalKLHDC8A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKLHDC8A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKLHDC8A
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 KLHDC8A
DgiDB (Drug Gene Interaction Database)KLHDC8A
DoCM (Curated mutations)KLHDC8A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KLHDC8A (select a term)
intoGenKLHDC8A
Cancer3DKLHDC8A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614503   
Orphanet
DisGeNETKLHDC8A
MedgenKLHDC8A
Genetic Testing Registry KLHDC8A
NextProtQ8IYD2 [Medical]
TSGene55220
GENETestsKLHDC8A
Target ValidationKLHDC8A
Huge Navigator KLHDC8A [HugePedia]
snp3D : Map Gene to Disease55220
BioCentury BCIQKLHDC8A
ClinGenKLHDC8A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55220
Chemical/Pharm GKB GenePA142671583
Clinical trialKLHDC8A
Miscellaneous
canSAR (ICR)KLHDC8A (select the gene name)
Probes
Litterature
PubMed6 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKLHDC8A
EVEXKLHDC8A
GoPubMedKLHDC8A
iHOPKLHDC8A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jun 22 16:32:19 CEST 2018

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.