Atlas of Genetics and Cytogenetics in Oncology and Haematology


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

Identity

Alias (NCBI)C6orf221
ECAT1
HYDM2
HGNC (Hugo) KHDC3L
HGNC Alias symbECAT1
HGNC Alias nameES cell associated transcript 1
HGNC Previous nameC6orf221
HGNC Previous namechromosome 6 open reading frame 221
 KH domain containing 3-like, subcortical maternal complex member
LocusID (NCBI) 154288
Atlas_Id 64844
Location 6q13  [Link to chromosome band 6q13]
Location_base_pair Starts at 73362658 and ends at 73364171 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    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]  ENSG00000203908 [Sequence]  chr6:73362658-73364171 [Contig_View]  KHDC3L [Vega]
ICGC DataPortalENSG00000203908
TCGA cBioPortalKHDC3L
AceView (NCBI)KHDC3L
Genatlas (Paris)KHDC3L
SOURCE (Princeton)KHDC3L
Genetics Home Reference (NIH)KHDC3L
Genomic and cartography
GoldenPath hg38 (UCSC)KHDC3L  -     chr6:73362658-73364171 +  6q13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KHDC3L  -     6q13   [Description]    (hg19-Feb_2009)
GoldenPathKHDC3L - 6q13 [CytoView hg19]  KHDC3L - 6q13 [CytoView hg38]
ImmunoBaseENSG00000203908
Genome Data Viewer NCBIKHDC3L [Mapview hg19]  
OMIM611687   614293   
Gene and transcription
Genbank (Entrez)AB211062 AI638315 BC132844 BC137160
RefSeq transcript (Entrez)NM_001017361
Consensus coding sequences : CCDS (NCBI)KHDC3L
Gene ExpressionKHDC3L [ NCBI-GEO ]   KHDC3L [ EBI - ARRAY_EXPRESS ]   KHDC3L [ SEEK ]   KHDC3L [ MEM ]
Gene Expression Viewer (FireBrowse)KHDC3L [ Firebrowse - Broad ]
GenevisibleExpression of KHDC3L 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
PhosPhoSitePlusQ587J8
Domains : Interpro (EBI)KH_dom_type_1_sf    MOEP19_KH-like   
Domain families : Pfam (Sanger)MOEP19 (PF16005)   
Domain families : Pfam (NCBI)pfam16005   
Conserved Domain (NCBI)KHDC3L
SuperfamilyQ587J8
AlphaFold pdb e-kbQ587J8   
Human Protein Atlas [tissue]ENSG00000203908-KHDC3L [tissue]
HPRD18560
Protein Interaction databases
DIP (DOE-UCLA)Q587J8
IntAct (EBI)Q587J8
BioGRIDKHDC3L
STRING (EMBL)KHDC3L
ZODIACKHDC3L
Ontologies - Pathways
QuickGOQ587J8
Ontology : AmiGORNA binding  protein binding  nucleus  nucleus  cytoplasm  mitochondrion  centrosome  cell cortex  actin filament organization  biological_process  replication fork processing  regulation of protein localization  regulation of protein localization  protein-containing complex  protein-containing complex  positive regulation of embryonic development  negative regulation of apoptotic process  apical cortex  positive regulation of neurogenesis  establishment of organelle localization  subcortical maternal complex  positive regulation of dendrite development  positive regulation of double-strand break repair via homologous recombination  positive regulation of double-strand break repair via homologous recombination  positive regulation of double-strand break repair  
Ontology : EGO-EBIRNA binding  protein binding  nucleus  nucleus  cytoplasm  mitochondrion  centrosome  cell cortex  actin filament organization  biological_process  replication fork processing  regulation of protein localization  regulation of protein localization  protein-containing complex  protein-containing complex  positive regulation of embryonic development  negative regulation of apoptotic process  apical cortex  positive regulation of neurogenesis  establishment of organelle localization  subcortical maternal complex  positive regulation of dendrite development  positive regulation of double-strand break repair via homologous recombination  positive regulation of double-strand break repair via homologous recombination  positive regulation of double-strand break repair  
NDEx NetworkKHDC3L
Atlas of Cancer Signalling NetworkKHDC3L
Wikipedia pathwaysKHDC3L
Orthology - Evolution
OrthoDB154288
GeneTree (enSembl)ENSG00000203908
Phylogenetic Trees/Animal Genes : TreeFamKHDC3L
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
MonarchKHDC3L
1000_GenomesKHDC3L 
Exome Variant ServerKHDC3L
GNOMAD BrowserENSG00000203908
Varsome BrowserKHDC3L
ACMGKHDC3L variants
VarityQ587J8
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]
Somatic Mutations in Cancer : COSMICKHDC3L  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DKHDC3L
Mutations and Diseases : HGMDKHDC3L
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaKHDC3L
DgiDB (Drug Gene Interaction Database)KHDC3L
DoCM (Curated mutations)KHDC3L
CIViC (Clinical Interpretations of Variants in Cancer)KHDC3L
Cancer3DKHDC3L
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611687    614293   
Orphanet19764    19763   
DisGeNETKHDC3L
MedgenKHDC3L
Genetic Testing Registry KHDC3L
NextProtQ587J8 [Medical]
GENETestsKHDC3L
Target ValidationKHDC3L
Huge Navigator KHDC3L [HugePedia]
ClinGenKHDC3L
Clinical trials, drugs, therapy
MyCancerGenomeKHDC3L
Protein Interactions : CTDKHDC3L
Pharm GKB GenePA162380388
PharosQ587J8
Clinical trialKHDC3L
Miscellaneous
canSAR (ICR)KHDC3L
HarmonizomeKHDC3L
DataMed IndexKHDC3L
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXKHDC3L
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:54:30 CEST 2021

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