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LRRC48 (leucine rich repeat containing 48)

Identity

Other alias-
HGNC (Hugo) LRRC48
LocusID (NCBI) 83450
Atlas_Id 68632
Location 17p11.2  [Link to chromosome band 17p11]
Location_base_pair Starts at 17876127 and ends at 17920189 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
XPO6 LRRC48SREBF1 LRRC48

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)LRRC48   25384
Cards
Entrez_Gene (NCBI)LRRC48  83450  leucine rich repeat containing 48
Aliases
GeneCards (Weizmann)LRRC48
Ensembl hg19 (Hinxton)ENSG00000171962 [Gene_View]  chr17:17876127-17920189 [Contig_View]  LRRC48 [Vega]
Ensembl hg38 (Hinxton)ENSG00000171962 [Gene_View]  chr17:17876127-17920189 [Contig_View]  LRRC48 [Vega]
ICGC DataPortalENSG00000171962
TCGA cBioPortalLRRC48
AceView (NCBI)LRRC48
Genatlas (Paris)LRRC48
WikiGenes83450
SOURCE (Princeton)LRRC48
Genetics Home Reference (NIH)LRRC48
Genomic and cartography
GoldenPath hg19 (UCSC)LRRC48  -     chr17:17876127-17920189 +  17p11.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)LRRC48  -     17p11.2   [Description]    (hg38-Dec_2013)
EnsemblLRRC48 - 17p11.2 [CytoView hg19]  LRRC48 - 17p11.2 [CytoView hg38]
Mapping of homologs : NCBILRRC48 [Mapview hg19]  LRRC48 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK093317 AK293011 AL136926 AM392733 AM392765
RefSeq transcript (Entrez)NM_001130090 NM_001130091 NM_001130092 NM_031294
RefSeq genomic (Entrez)NC_000017 NC_018928 NT_010718 NW_004929405
Consensus coding sequences : CCDS (NCBI)LRRC48
Cluster EST : UnigeneHs.579264 [ NCBI ]
CGAP (NCI)Hs.579264
Alternative Splicing GalleryENSG00000171962
Gene ExpressionLRRC48 [ NCBI-GEO ]   LRRC48 [ EBI - ARRAY_EXPRESS ]   LRRC48 [ SEEK ]   LRRC48 [ MEM ]
Gene Expression Viewer (FireBrowse)LRRC48 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)83450
GTEX Portal (Tissue expression)LRRC48
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H069   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H069  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H069
Splice isoforms : SwissVarQ9H069
PhosPhoSitePlusQ9H069
Domaine pattern : Prosite (Expaxy)LRR (PS51450)   
Domains : Interpro (EBI)Leu-rich_rpt   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)LRRC48
DMDM Disease mutations83450
Blocks (Seattle)LRRC48
SuperfamilyQ9H069
Human Protein AtlasENSG00000171962
Peptide AtlasQ9H069
HPRD13181
IPIIPI00337516   IPI00737755   
Protein Interaction databases
DIP (DOE-UCLA)Q9H069
IntAct (EBI)Q9H069
FunCoupENSG00000171962
BioGRIDLRRC48
STRING (EMBL)LRRC48
ZODIACLRRC48
Ontologies - Pathways
QuickGOQ9H069
Ontology : AmiGOcytoplasm  
Ontology : EGO-EBIcytoplasm  
NDEx NetworkLRRC48
Atlas of Cancer Signalling NetworkLRRC48
Wikipedia pathwaysLRRC48
Orthology - Evolution
OrthoDB83450
GeneTree (enSembl)ENSG00000171962
Phylogenetic Trees/Animal Genes : TreeFamLRRC48
HOVERGENQ9H069
HOGENOMQ9H069
Homologs : HomoloGeneLRRC48
Homology/Alignments : Family Browser (UCSC)LRRC48
Gene fusions - Rearrangements
Fusion: TCGAXPO6 LRRC48
Fusion: TCGASREBF1 LRRC48
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerLRRC48 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)LRRC48
dbVarLRRC48
ClinVarLRRC48
1000_GenomesLRRC48 
Exome Variant ServerLRRC48
ExAC (Exome Aggregation Consortium)LRRC48 (select the gene name)
Genetic variants : HAPMAP83450
Genomic Variants (DGV)LRRC48 [DGVbeta]
DECIPHER (Syndromes)17:17876127-17920189  ENSG00000171962
CONAN: Copy Number AnalysisLRRC48 
Mutations
ICGC Data PortalLRRC48 
TCGA Data PortalLRRC48 
Broad Tumor PortalLRRC48
OASIS PortalLRRC48 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICLRRC48  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDLRRC48
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
BioMutasearch LRRC48
DgiDB (Drug Gene Interaction Database)LRRC48
DoCM (Curated mutations)LRRC48 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)LRRC48 (select a term)
intoGenLRRC48
Cancer3DLRRC48(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenLRRC48
Genetic Testing Registry LRRC48
NextProtQ9H069 [Medical]
TSGene83450
GENETestsLRRC48
Huge Navigator LRRC48 [HugePedia]
snp3D : Map Gene to Disease83450
BioCentury BCIQLRRC48
ClinGenLRRC48
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD83450
Chemical/Pharm GKB GenePA142671508
Clinical trialLRRC48
Miscellaneous
canSAR (ICR)LRRC48 (select the gene name)
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineLRRC48
EVEXLRRC48
GoPubMedLRRC48
iHOPLRRC48
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:27:08 CET 2017

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