Atlas of Genetics and Cytogenetics in Oncology and Haematology

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KHDC1 (KH domain containing 1)

Identity

Alias_namesC6orf148
C6orf147
chromosome 6 open reading frame 148
chromosome 6 open reading frame 147
Alias_symbol (synonym)MGC10818
bA257K9.4
NDG1
Em:AC019205.8
Other aliasKHDC1L
HGNC (Hugo) KHDC1
LocusID (NCBI) 80759
Atlas_Id 64842
Location 6q13  [Link to chromosome band 6q13]
Location_base_pair Starts at 73241315 and ends at 73263196 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)
KHDC1 (6q13) / NLK (17q11.2)KHDC1 (6q13) / OOEP (6q13)PDCD7 (15q22.31) / KHDC1 (6q13)
KHDC1 NLKKHDC1 OOEP

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(6;17)(q13;q11) KHDC1/NLK

External links

Nomenclature
HGNC (Hugo)KHDC1   21366
Cards
Entrez_Gene (NCBI)KHDC1  80759  KH domain containing 1
AliasesC6orf147; C6orf148; Em:AC019205.8; KHDC1L; 
NDG1; bA257K9.4
GeneCards (Weizmann)KHDC1
Ensembl hg19 (Hinxton)ENSG00000135314 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000135314 [Gene_View]  ENSG00000135314 [Sequence]  chr6:73241315-73263196 [Contig_View]  KHDC1 [Vega]
ICGC DataPortalENSG00000135314
TCGA cBioPortalKHDC1
AceView (NCBI)KHDC1
Genatlas (Paris)KHDC1
WikiGenes80759
SOURCE (Princeton)KHDC1
Genetics Home Reference (NIH)KHDC1
Genomic and cartography
GoldenPath hg38 (UCSC)KHDC1  -     chr6:73241315-73263196 -  6q13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KHDC1  -     6q13   [Description]    (hg19-Feb_2009)
GoldenPathKHDC1 - 6q13 [CytoView hg19]  KHDC1 - 6q13 [CytoView hg38]
ImmunoBaseENSG00000135314
genome Data Viewer NCBIKHDC1 [Mapview hg19]  
OMIM611688   
Gene and transcription
Genbank (Entrez)AI493466 AK090984 BC022080 BM725230 BM747426
RefSeq transcript (Entrez)NM_001251874 NM_030568
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KHDC1
Alternative Splicing GalleryENSG00000135314
Gene ExpressionKHDC1 [ NCBI-GEO ]   KHDC1 [ EBI - ARRAY_EXPRESS ]   KHDC1 [ SEEK ]   KHDC1 [ MEM ]
Gene Expression Viewer (FireBrowse)KHDC1 [ Firebrowse - Broad ]
GenevisibleExpression of KHDC1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)80759
GTEX Portal (Tissue expression)KHDC1
Human Protein AtlasENSG00000135314-KHDC1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ4VXA5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ4VXA5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ4VXA5
Splice isoforms : SwissVarQ4VXA5
PhosPhoSitePlusQ4VXA5
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)KHDC1
DMDM Disease mutations80759
Blocks (Seattle)KHDC1
SuperfamilyQ4VXA5
Human Protein Atlas [tissue]ENSG00000135314-KHDC1 [tissue]
Peptide AtlasQ4VXA5
HPRD10790
IPIIPI00156452   IPI00872647   IPI00647939   
Protein Interaction databases
DIP (DOE-UCLA)Q4VXA5
IntAct (EBI)Q4VXA5
FunCoupENSG00000135314
BioGRIDKHDC1
STRING (EMBL)KHDC1
ZODIACKHDC1
Ontologies - Pathways
QuickGOQ4VXA5
Ontology : AmiGORNA binding  cytoplasm  activation of cysteine-type endopeptidase activity involved in apoptotic process  integral component of membrane  
Ontology : EGO-EBIRNA binding  cytoplasm  activation of cysteine-type endopeptidase activity involved in apoptotic process  integral component of membrane  
NDEx NetworkKHDC1
Atlas of Cancer Signalling NetworkKHDC1
Wikipedia pathwaysKHDC1
Orthology - Evolution
OrthoDB80759
GeneTree (enSembl)ENSG00000135314
Phylogenetic Trees/Animal Genes : TreeFamKHDC1
HOGENOMQ4VXA5
Homologs : HomoloGeneKHDC1
Homology/Alignments : Family Browser (UCSC)KHDC1
Gene fusions - Rearrangements
Fusion PortalKHDC1 NLK
Fusion PortalKHDC1 OOEP
Fusion : QuiverKHDC1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKHDC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KHDC1
dbVarKHDC1
ClinVarKHDC1
1000_GenomesKHDC1 
Exome Variant ServerKHDC1
GNOMAD BrowserENSG00000135314
Varsome BrowserKHDC1
Genetic variants : HAPMAP80759
Genomic Variants (DGV)KHDC1 [DGVbeta]
DECIPHERKHDC1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKHDC1 
Mutations
ICGC Data PortalKHDC1 
TCGA Data PortalKHDC1 
Broad Tumor PortalKHDC1
OASIS PortalKHDC1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKHDC1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DKHDC1
Mutations and Diseases : HGMDKHDC1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch KHDC1
DgiDB (Drug Gene Interaction Database)KHDC1
DoCM (Curated mutations)KHDC1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KHDC1 (select a term)
intoGenKHDC1
Cancer3DKHDC1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611688   
Orphanet
DisGeNETKHDC1
MedgenKHDC1
Genetic Testing Registry KHDC1
NextProtQ4VXA5 [Medical]
TSGene80759
GENETestsKHDC1
Target ValidationKHDC1
Huge Navigator KHDC1 [HugePedia]
snp3D : Map Gene to Disease80759
BioCentury BCIQKHDC1
ClinGenKHDC1
Clinical trials, drugs, therapy
Protein Interactions : CTD80759
Pharm GKB GenePA162392802
Clinical trialKHDC1
Miscellaneous
canSAR (ICR)KHDC1 (select the gene name)
HarmonizomeKHDC1
DataMed IndexKHDC1
Probes
Litterature
PubMed7 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKHDC1
EVEXKHDC1
GoPubMedKHDC1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Fri Jul 10 20:07:13 CEST 2020
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