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KHDC1L (KH domain containing 1 like)

Identity

Alias_symbol (synonym)RP11-257K9.7
Other alias-
HGNC (Hugo) KHDC1L
LocusID (NCBI) 100129128
Atlas_Id 64843
Location 6q13  [Link to chromosome band 6q13]
Location_base_pair Starts at 73223545 and ends at 73225452 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)KHDC1L   37274
Cards
Entrez_Gene (NCBI)KHDC1L  100129128  KH domain containing 1 like
Aliases
GeneCards (Weizmann)KHDC1L
Ensembl hg19 (Hinxton)ENSG00000256980 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000256980 [Gene_View]  ENSG00000256980 [Sequence]  chr6:73223545-73225452 [Contig_View]  KHDC1L [Vega]
ICGC DataPortalENSG00000256980
TCGA cBioPortalKHDC1L
AceView (NCBI)KHDC1L
Genatlas (Paris)KHDC1L
WikiGenes100129128
SOURCE (Princeton)KHDC1L
Genetics Home Reference (NIH)KHDC1L
Genomic and cartography
GoldenPath hg38 (UCSC)KHDC1L  -     chr6:73223545-73225452 -  6q13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KHDC1L  -     6q13   [Description]    (hg19-Feb_2009)
EnsemblKHDC1L - 6q13 [CytoView hg19]  KHDC1L - 6q13 [CytoView hg38]
Mapping of homologs : NCBIKHDC1L [Mapview hg19]  KHDC1L [Mapview hg38]
Gene and transcription
Genbank (Entrez)BC004267
RefSeq transcript (Entrez)NM_001126063
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KHDC1L
Cluster EST : UnigeneHs.663639 [ NCBI ]
CGAP (NCI)Hs.663639
Alternative Splicing GalleryENSG00000256980
Gene ExpressionKHDC1L [ NCBI-GEO ]   KHDC1L [ EBI - ARRAY_EXPRESS ]   KHDC1L [ SEEK ]   KHDC1L [ MEM ]
Gene Expression Viewer (FireBrowse)KHDC1L [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)100129128
GTEX Portal (Tissue expression)KHDC1L
Human Protein AtlasENSG00000256980-KHDC1L [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5JSQ8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5JSQ8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5JSQ8
Splice isoforms : SwissVarQ5JSQ8
PhosPhoSitePlusQ5JSQ8
Domains : Interpro (EBI)MOEP19_KH-like   
Domain families : Pfam (Sanger)MOEP19 (PF16005)   
Domain families : Pfam (NCBI)pfam16005   
Conserved Domain (NCBI)KHDC1L
DMDM Disease mutations100129128
Blocks (Seattle)KHDC1L
SuperfamilyQ5JSQ8
Human Protein Atlas [tissue]ENSG00000256980-KHDC1L [tissue]
Peptide AtlasQ5JSQ8
IPIIPI00552361   IPI01014552   
Protein Interaction databases
DIP (DOE-UCLA)Q5JSQ8
IntAct (EBI)Q5JSQ8
FunCoupENSG00000256980
BioGRIDKHDC1L
STRING (EMBL)KHDC1L
ZODIACKHDC1L
Ontologies - Pathways
QuickGOQ5JSQ8
Ontology : AmiGO
Ontology : EGO-EBI
NDEx NetworkKHDC1L
Atlas of Cancer Signalling NetworkKHDC1L
Wikipedia pathwaysKHDC1L
Orthology - Evolution
OrthoDB100129128
GeneTree (enSembl)ENSG00000256980
Phylogenetic Trees/Animal Genes : TreeFamKHDC1L
HOVERGENQ5JSQ8
HOGENOMQ5JSQ8
Homologs : HomoloGeneKHDC1L
Homology/Alignments : Family Browser (UCSC)KHDC1L
Gene fusions - Rearrangements
Fusion : QuiverKHDC1L
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKHDC1L [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KHDC1L
dbVarKHDC1L
ClinVarKHDC1L
1000_GenomesKHDC1L 
Exome Variant ServerKHDC1L
ExAC (Exome Aggregation Consortium)ENSG00000256980
GNOMAD BrowserENSG00000256980
Varsome BrowserKHDC1L
Genetic variants : HAPMAP100129128
Genomic Variants (DGV)KHDC1L [DGVbeta]
DECIPHERKHDC1L [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKHDC1L 
Mutations
ICGC Data PortalKHDC1L 
TCGA Data PortalKHDC1L 
Broad Tumor PortalKHDC1L
OASIS PortalKHDC1L [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKHDC1L  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKHDC1L
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch KHDC1L
DgiDB (Drug Gene Interaction Database)KHDC1L
DoCM (Curated mutations)KHDC1L (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KHDC1L (select a term)
intoGenKHDC1L
Cancer3DKHDC1L(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETKHDC1L
MedgenKHDC1L
Genetic Testing Registry KHDC1L
NextProtQ5JSQ8 [Medical]
TSGene100129128
GENETestsKHDC1L
Target ValidationKHDC1L
Huge Navigator KHDC1L [HugePedia]
snp3D : Map Gene to Disease100129128
BioCentury BCIQKHDC1L
ClinGenKHDC1L
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD100129128
Chemical/Pharm GKB GenePA165617988
Clinical trialKHDC1L
Miscellaneous
canSAR (ICR)KHDC1L (select the gene name)
Probes
Litterature
PubMed2 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKHDC1L
EVEXKHDC1L
GoPubMedKHDC1L
iHOPKHDC1L
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Jul 30 13:50:46 CEST 2018

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