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LDLRAD4 (low density lipoprotein receptor class A domain containing 4)

Identity

Alias_namesC18orf1
chromosome 18 open reading frame 1
Other alias
HGNC (Hugo) LDLRAD4
LocusID (NCBI) 753
Atlas_Id 54867
Location 18p11.21  [Link to chromosome band 18p11]
Location_base_pair Starts at 13611464 and ends at 13652754 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)
LDLRAD4 (18p11.21) / IMPA2 (18p11.21)LDLRAD4 (18p11.21) / NOVA1 (14q12)LDLRAD4 (18p11.21) / PHACTR3 (20q13.32)
PARD6G (18q23) / LDLRAD4 (18p11.21)PREP (6q21) / LDLRAD4 (18p11.21)RUNX1 (21q22.12) / LDLRAD4 (18p11.21)

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 Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  del(18)(p11)


External links

Nomenclature
HGNC (Hugo)LDLRAD4   1224
Cards
Entrez_Gene (NCBI)LDLRAD4  753  low density lipoprotein receptor class A domain containing 4
AliasesC18orf1
GeneCards (Weizmann)LDLRAD4
Ensembl hg19 (Hinxton)ENSG00000168675 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000168675 [Gene_View]  chr18:13611464-13652754 [Contig_View]  LDLRAD4 [Vega]
ICGC DataPortalENSG00000168675
TCGA cBioPortalLDLRAD4
AceView (NCBI)LDLRAD4
Genatlas (Paris)LDLRAD4
WikiGenes753
SOURCE (Princeton)LDLRAD4
Genetics Home Reference (NIH)LDLRAD4
Genomic and cartography
GoldenPath hg38 (UCSC)LDLRAD4  -     chr18:13611464-13652754 +  18p11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)LDLRAD4  -     18p11.21   [Description]    (hg19-Feb_2009)
EnsemblLDLRAD4 - 18p11.21 [CytoView hg19]  LDLRAD4 - 18p11.21 [CytoView hg38]
Mapping of homologs : NCBILDLRAD4 [Mapview hg19]  LDLRAD4 [Mapview hg38]
OMIM606571   
Gene and transcription
Genbank (Entrez)###############################################################################################################################################################################################################################################################
RefSeq transcript (Entrez)NM_001003674 NM_001003675 NM_001276249 NM_001276251 NM_004338 NM_181481 NM_181482 NM_181483
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)LDLRAD4
Cluster EST : UnigeneHs.745141 [ NCBI ]
CGAP (NCI)Hs.745141
Alternative Splicing GalleryENSG00000168675
Gene ExpressionLDLRAD4 [ NCBI-GEO ]   LDLRAD4 [ EBI - ARRAY_EXPRESS ]   LDLRAD4 [ SEEK ]   LDLRAD4 [ MEM ]
Gene Expression Viewer (FireBrowse)LDLRAD4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)753
GTEX Portal (Tissue expression)LDLRAD4
Human Protein AtlasENSG00000168675-LDLRAD4 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO15165   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO15165  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO15165
Splice isoforms : SwissVarO15165
PhosPhoSitePlusO15165
Domaine pattern : Prosite (Expaxy)LDLRA_1 (PS01209)    LDLRA_2 (PS50068)   
Domains : Interpro (EBI)LDLR_class-A_CS    LDrepeatLR_classA_rpt   
Domain families : Pfam (Sanger)Ldl_recept_a (PF00057)   
Domain families : Pfam (NCBI)pfam00057   
Domain families : Smart (EMBL)LDLa (SM00192)  
Conserved Domain (NCBI)LDLRAD4
DMDM Disease mutations753
Blocks (Seattle)LDLRAD4
SuperfamilyO15165
Human Protein Atlas [tissue]ENSG00000168675-LDLRAD4 [tissue]
Peptide AtlasO15165
HPRD07358
IPIIPI00220323   IPI00413630   IPI00218243   IPI00218244   IPI01017886   IPI00455979   IPI00455980   
Protein Interaction databases
DIP (DOE-UCLA)O15165
IntAct (EBI)O15165
FunCoupENSG00000168675
BioGRIDLDLRAD4
STRING (EMBL)LDLRAD4
ZODIACLDLRAD4
Ontologies - Pathways
QuickGOO15165
Ontology : AmiGOnucleoplasm  negative regulation of epithelial to mesenchymal transition  negative regulation of SMAD protein complex assembly  integral component of membrane  negative regulation of cell migration  negative regulation of transforming growth factor beta receptor signaling pathway  early endosome membrane  intracellular membrane-bounded organelle  negative regulation of pathway-restricted SMAD protein phosphorylation  R-SMAD binding  
Ontology : EGO-EBInucleoplasm  negative regulation of epithelial to mesenchymal transition  negative regulation of SMAD protein complex assembly  integral component of membrane  negative regulation of cell migration  negative regulation of transforming growth factor beta receptor signaling pathway  early endosome membrane  intracellular membrane-bounded organelle  negative regulation of pathway-restricted SMAD protein phosphorylation  R-SMAD binding  
NDEx NetworkLDLRAD4
Atlas of Cancer Signalling NetworkLDLRAD4
Wikipedia pathwaysLDLRAD4
Orthology - Evolution
OrthoDB753
GeneTree (enSembl)ENSG00000168675
Phylogenetic Trees/Animal Genes : TreeFamLDLRAD4
HOVERGENO15165
HOGENOMO15165
Homologs : HomoloGeneLDLRAD4
Homology/Alignments : Family Browser (UCSC)LDLRAD4
Gene fusions - Rearrangements
Fusion : MitelmanLDLRAD4/IMPA2 [18p11.21/18p11.21]  
Fusion : MitelmanLDLRAD4/NOVA1 [18p11.21/14q12]  [t(14;18)(q12;p11)]  
Fusion : MitelmanPARD6G/LDLRAD4 [18q23/18p11.21]  [t(18;18)(p11;q23)]  
Fusion : MitelmanPREP/LDLRAD4 [6q21/18p11.21]  [t(6;18)(q21;p11)]  
Fusion: Tumor Portal LDLRAD4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerLDLRAD4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)LDLRAD4
dbVarLDLRAD4
ClinVarLDLRAD4
1000_GenomesLDLRAD4 
Exome Variant ServerLDLRAD4
ExAC (Exome Aggregation Consortium)ENSG00000168675
GNOMAD BrowserENSG00000168675
Genetic variants : HAPMAP753
Genomic Variants (DGV)LDLRAD4 [DGVbeta]
DECIPHERLDLRAD4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisLDLRAD4 
Mutations
ICGC Data PortalLDLRAD4 
TCGA Data PortalLDLRAD4 
Broad Tumor PortalLDLRAD4
OASIS PortalLDLRAD4 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDLDLRAD4
BioMutasearch LDLRAD4
DgiDB (Drug Gene Interaction Database)LDLRAD4
DoCM (Curated mutations)LDLRAD4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)LDLRAD4 (select a term)
intoGenLDLRAD4
Cancer3DLDLRAD4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606571   
Orphanet
MedgenLDLRAD4
Genetic Testing Registry LDLRAD4
NextProtO15165 [Medical]
TSGene753
GENETestsLDLRAD4
Target ValidationLDLRAD4
Huge Navigator LDLRAD4 [HugePedia]
snp3D : Map Gene to Disease753
BioCentury BCIQLDLRAD4
ClinGenLDLRAD4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD753
Chemical/Pharm GKB GenePA25593
Clinical trialLDLRAD4
Miscellaneous
canSAR (ICR)LDLRAD4 (select the gene name)
Probes
Litterature
PubMed18 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineLDLRAD4
EVEXLDLRAD4
GoPubMedLDLRAD4
iHOPLDLRAD4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Nov 9 12:56:11 CET 2017

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