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KLHDC1 (kelch domain containing 1)

Identity

Alias_symbol (synonym)MST025
Other alias
HGNC (Hugo) KLHDC1
LocusID (NCBI) 122773
Atlas_Id 64952
Location 14q21.3  [Link to chromosome band 14q21]
Location_base_pair Starts at 50159823 and ends at 50219870 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)KLHDC1   19836
Cards
Entrez_Gene (NCBI)KLHDC1  122773  kelch domain containing 1
AliasesMST025
GeneCards (Weizmann)KLHDC1
Ensembl hg19 (Hinxton)ENSG00000197776 [Gene_View]  chr14:50159823-50219870 [Contig_View]  KLHDC1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000197776 [Gene_View]  chr14:50159823-50219870 [Contig_View]  KLHDC1 [Vega]
ICGC DataPortalENSG00000197776
TCGA cBioPortalKLHDC1
AceView (NCBI)KLHDC1
Genatlas (Paris)KLHDC1
WikiGenes122773
SOURCE (Princeton)KLHDC1
Genetics Home Reference (NIH)KLHDC1
Genomic and cartography
GoldenPath hg19 (UCSC)KLHDC1  -     chr14:50159823-50219870 +  14q21.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)KLHDC1  -     14q21.3   [Description]    (hg38-Dec_2013)
EnsemblKLHDC1 - 14q21.3 [CytoView hg19]  KLHDC1 - 14q21.3 [CytoView hg38]
Mapping of homologs : NCBIKLHDC1 [Mapview hg19]  KLHDC1 [Mapview hg38]
OMIM611281   
Gene and transcription
Genbank (Entrez)AF111806 AK127202 AL833437 BC031270 BC101595
RefSeq transcript (Entrez)NM_172193
RefSeq genomic (Entrez)NC_000014 NC_018925 NT_026437 NW_004929393
Consensus coding sequences : CCDS (NCBI)KLHDC1
Cluster EST : UnigeneHs.509258 [ NCBI ]
CGAP (NCI)Hs.509258
Alternative Splicing GalleryENSG00000197776
Gene ExpressionKLHDC1 [ NCBI-GEO ]   KLHDC1 [ EBI - ARRAY_EXPRESS ]   KLHDC1 [ SEEK ]   KLHDC1 [ MEM ]
Gene Expression Viewer (FireBrowse)KLHDC1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)122773
GTEX Portal (Tissue expression)KLHDC1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N7A1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N7A1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N7A1
Splice isoforms : SwissVarQ8N7A1
PhosPhoSitePlusQ8N7A1
Domains : Interpro (EBI)Kelch-typ_b-propeller   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)KLHDC1
DMDM Disease mutations122773
Blocks (Seattle)KLHDC1
SuperfamilyQ8N7A1
Human Protein AtlasENSG00000197776
Peptide AtlasQ8N7A1
HPRD13921
IPIIPI00383231   IPI01025133   IPI01024982   IPI01024882   IPI01025696   
Protein Interaction databases
DIP (DOE-UCLA)Q8N7A1
IntAct (EBI)Q8N7A1
FunCoupENSG00000197776
BioGRIDKLHDC1
STRING (EMBL)KLHDC1
ZODIACKLHDC1
Ontologies - Pathways
QuickGOQ8N7A1
Ontology : AmiGOcytoplasm  
Ontology : EGO-EBIcytoplasm  
NDEx NetworkKLHDC1
Atlas of Cancer Signalling NetworkKLHDC1
Wikipedia pathwaysKLHDC1
Orthology - Evolution
OrthoDB122773
GeneTree (enSembl)ENSG00000197776
Phylogenetic Trees/Animal Genes : TreeFamKLHDC1
HOVERGENQ8N7A1
HOGENOMQ8N7A1
Homologs : HomoloGeneKLHDC1
Homology/Alignments : Family Browser (UCSC)KLHDC1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKLHDC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KLHDC1
dbVarKLHDC1
ClinVarKLHDC1
1000_GenomesKLHDC1 
Exome Variant ServerKLHDC1
ExAC (Exome Aggregation Consortium)KLHDC1 (select the gene name)
Genetic variants : HAPMAP122773
Genomic Variants (DGV)KLHDC1 [DGVbeta]
DECIPHER (Syndromes)14:50159823-50219870  ENSG00000197776
CONAN: Copy Number AnalysisKLHDC1 
Mutations
ICGC Data PortalKLHDC1 
TCGA Data PortalKLHDC1 
Broad Tumor PortalKLHDC1
OASIS PortalKLHDC1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKLHDC1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKLHDC1
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 KLHDC1
DgiDB (Drug Gene Interaction Database)KLHDC1
DoCM (Curated mutations)KLHDC1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KLHDC1 (select a term)
intoGenKLHDC1
Cancer3DKLHDC1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611281   
Orphanet
MedgenKLHDC1
Genetic Testing Registry KLHDC1
NextProtQ8N7A1 [Medical]
TSGene122773
GENETestsKLHDC1
Huge Navigator KLHDC1 [HugePedia]
snp3D : Map Gene to Disease122773
BioCentury BCIQKLHDC1
ClinGenKLHDC1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD122773
Chemical/Pharm GKB GenePA134938689
Clinical trialKLHDC1
Miscellaneous
canSAR (ICR)KLHDC1 (select the gene name)
Probes
Litterature
PubMed8 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKLHDC1
EVEXKLHDC1
GoPubMedKLHDC1
iHOPKLHDC1
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 12:09:58 CET 2017

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