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KHDC3L (KH domain containing 3 like, subcortical maternal complex member)

Identity

Alias_namesC6orf221
chromosome 6 open reading frame 221
KH domain containing 3-like, subcortical maternal complex member
Alias_symbol (synonym)ECAT1
Other aliasHYDM2
HGNC (Hugo) KHDC3L
LocusID (NCBI) 154288
Atlas_Id 64844
Location 6q13  [Link to chromosome band 6q13]
Location_base_pair Starts at 73362677 and ends at 73364175 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)

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)KHDC3L   33699
Cards
Entrez_Gene (NCBI)KHDC3L  154288  KH domain containing 3 like, subcortical maternal complex member
AliasesC6orf221; ECAT1; HYDM2
GeneCards (Weizmann)KHDC3L
Ensembl hg19 (Hinxton)ENSG00000203908 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000203908 [Gene_View]  chr6:73362677-73364175 [Contig_View]  KHDC3L [Vega]
ICGC DataPortalENSG00000203908
TCGA cBioPortalKHDC3L
AceView (NCBI)KHDC3L
Genatlas (Paris)KHDC3L
WikiGenes154288
SOURCE (Princeton)KHDC3L
Genetics Home Reference (NIH)KHDC3L
Genomic and cartography
GoldenPath hg38 (UCSC)KHDC3L  -     chr6:73362677-73364175 +  6q13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KHDC3L  -     6q13   [Description]    (hg19-Feb_2009)
EnsemblKHDC3L - 6q13 [CytoView hg19]  KHDC3L - 6q13 [CytoView hg38]
Mapping of homologs : NCBIKHDC3L [Mapview hg19]  KHDC3L [Mapview hg38]
OMIM611687   614293   
Gene and transcription
Genbank (Entrez)AB211062 AI638315 BC132844 BC137160 HQ258760
RefSeq transcript (Entrez)NM_001017361
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KHDC3L
Cluster EST : UnigeneHs.128326 [ NCBI ]
CGAP (NCI)Hs.128326
Alternative Splicing GalleryENSG00000203908
Gene ExpressionKHDC3L [ NCBI-GEO ]   KHDC3L [ EBI - ARRAY_EXPRESS ]   KHDC3L [ SEEK ]   KHDC3L [ MEM ]
Gene Expression Viewer (FireBrowse)KHDC3L [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)154288
GTEX Portal (Tissue expression)KHDC3L
Human Protein AtlasENSG00000203908-KHDC3L [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ587J8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ587J8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ587J8
Splice isoforms : SwissVarQ587J8
PhosPhoSitePlusQ587J8
Domains : Interpro (EBI)KH_dom_type_1    MOEP19_KH-like   
Domain families : Pfam (Sanger)MOEP19 (PF16005)   
Domain families : Pfam (NCBI)pfam16005   
Conserved Domain (NCBI)KHDC3L
DMDM Disease mutations154288
Blocks (Seattle)KHDC3L
SuperfamilyQ587J8
Human Protein Atlas [tissue]ENSG00000203908-KHDC3L [tissue]
Peptide AtlasQ587J8
HPRD18560
IPIIPI00077398   
Protein Interaction databases
DIP (DOE-UCLA)Q587J8
IntAct (EBI)Q587J8
FunCoupENSG00000203908
BioGRIDKHDC3L
STRING (EMBL)KHDC3L
ZODIACKHDC3L
Ontologies - Pathways
QuickGOQ587J8
Ontology : AmiGORNA binding  
Ontology : EGO-EBIRNA binding  
NDEx NetworkKHDC3L
Atlas of Cancer Signalling NetworkKHDC3L
Wikipedia pathwaysKHDC3L
Orthology - Evolution
OrthoDB154288
GeneTree (enSembl)ENSG00000203908
Phylogenetic Trees/Animal Genes : TreeFamKHDC3L
HOVERGENQ587J8
HOGENOMQ587J8
Homologs : HomoloGeneKHDC3L
Homology/Alignments : Family Browser (UCSC)KHDC3L
Gene fusions - Rearrangements
Fusion : QuiverKHDC3L
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKHDC3L [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KHDC3L
dbVarKHDC3L
ClinVarKHDC3L
1000_GenomesKHDC3L 
Exome Variant ServerKHDC3L
ExAC (Exome Aggregation Consortium)ENSG00000203908
GNOMAD BrowserENSG00000203908
Genetic variants : HAPMAP154288
Genomic Variants (DGV)KHDC3L [DGVbeta]
DECIPHERKHDC3L [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKHDC3L 
Mutations
ICGC Data PortalKHDC3L 
TCGA Data PortalKHDC3L 
Broad Tumor PortalKHDC3L
OASIS PortalKHDC3L [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDKHDC3L
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch KHDC3L
DgiDB (Drug Gene Interaction Database)KHDC3L
DoCM (Curated mutations)KHDC3L (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KHDC3L (select a term)
intoGenKHDC3L
Cancer3DKHDC3L(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611687    614293   
Orphanet19764    19763   
DisGeNETKHDC3L
MedgenKHDC3L
Genetic Testing Registry KHDC3L
NextProtQ587J8 [Medical]
TSGene154288
GENETestsKHDC3L
Target ValidationKHDC3L
Huge Navigator KHDC3L [HugePedia]
snp3D : Map Gene to Disease154288
BioCentury BCIQKHDC3L
ClinGenKHDC3L
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD154288
Chemical/Pharm GKB GenePA162380388
Clinical trialKHDC3L
Miscellaneous
canSAR (ICR)KHDC3L (select the gene name)
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKHDC3L
EVEXKHDC3L
GoPubMedKHDC3L
iHOPKHDC3L
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Feb 23 18:22:42 CET 2018

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