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LRGUK (leucine rich repeats and guanylate kinase domain containing)

Identity

Alias_symbol (synonym)FLJ32786
CFAP246
Other alias
HGNC (Hugo) LRGUK
LocusID (NCBI) 136332
Atlas_Id 68581
Location 7q33  [Link to chromosome band 7q33]
Location_base_pair Starts at 134127352 and ends at 134264591 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)
CALD1 (7q33) / LRGUK (7q33)EXOC4 (7q33) / LRGUK (7q33)

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)LRGUK   21964
Cards
Entrez_Gene (NCBI)LRGUK  136332  leucine rich repeats and guanylate kinase domain containing
AliasesCFAP246
GeneCards (Weizmann)LRGUK
Ensembl hg19 (Hinxton)ENSG00000155530 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000155530 [Gene_View]  chr7:134127352-134264591 [Contig_View]  LRGUK [Vega]
ICGC DataPortalENSG00000155530
TCGA cBioPortalLRGUK
AceView (NCBI)LRGUK
Genatlas (Paris)LRGUK
WikiGenes136332
SOURCE (Princeton)LRGUK
Genetics Home Reference (NIH)LRGUK
Genomic and cartography
GoldenPath hg38 (UCSC)LRGUK  -     chr7:134127352-134264591 +  7q33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)LRGUK  -     7q33   [Description]    (hg19-Feb_2009)
EnsemblLRGUK - 7q33 [CytoView hg19]  LRGUK - 7q33 [CytoView hg38]
Mapping of homologs : NCBILRGUK [Mapview hg19]  LRGUK [Mapview hg38]
OMIM616478   
Gene and transcription
Genbank (Entrez)AK057348 BC038800 BC104897 BC104899
RefSeq transcript (Entrez)NM_144648
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)LRGUK
Cluster EST : UnigeneHs.149774 [ NCBI ]
CGAP (NCI)Hs.149774
Alternative Splicing GalleryENSG00000155530
Gene ExpressionLRGUK [ NCBI-GEO ]   LRGUK [ EBI - ARRAY_EXPRESS ]   LRGUK [ SEEK ]   LRGUK [ MEM ]
Gene Expression Viewer (FireBrowse)LRGUK [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)136332
GTEX Portal (Tissue expression)LRGUK
Human Protein AtlasENSG00000155530-LRGUK [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96M69   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96M69  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96M69
Splice isoforms : SwissVarQ96M69
PhosPhoSitePlusQ96M69
Domaine pattern : Prosite (Expaxy)GUANYLATE_KINASE_2 (PS50052)    LRR (PS51450)   
Domains : Interpro (EBI)GK/Ca_channel_bsu    Guanylate_kin-like_dom    L_dom-like    Leu-rich_rpt    P-loop_NTPase   
Domain families : Pfam (Sanger)Guanylate_kin (PF00625)   
Domain families : Pfam (NCBI)pfam00625   
Domain families : Smart (EMBL)GuKc (SM00072)  
Conserved Domain (NCBI)LRGUK
DMDM Disease mutations136332
Blocks (Seattle)LRGUK
SuperfamilyQ96M69
Human Protein Atlas [tissue]ENSG00000155530-LRGUK [tissue]
Peptide AtlasQ96M69
HPRD08734
IPIIPI00065364   
Protein Interaction databases
DIP (DOE-UCLA)Q96M69
IntAct (EBI)Q96M69
FunCoupENSG00000155530
BioGRIDLRGUK
STRING (EMBL)LRGUK
ZODIACLRGUK
Ontologies - Pathways
QuickGOQ96M69
Ontology : AmiGOacrosomal vesicle  manchette  ATP binding  spermatogenesis  kinase activity  phosphorylation  cell differentiation  axoneme assembly  
Ontology : EGO-EBIacrosomal vesicle  manchette  ATP binding  spermatogenesis  kinase activity  phosphorylation  cell differentiation  axoneme assembly  
NDEx NetworkLRGUK
Atlas of Cancer Signalling NetworkLRGUK
Wikipedia pathwaysLRGUK
Orthology - Evolution
OrthoDB136332
GeneTree (enSembl)ENSG00000155530
Phylogenetic Trees/Animal Genes : TreeFamLRGUK
HOVERGENQ96M69
HOGENOMQ96M69
Homologs : HomoloGeneLRGUK
Homology/Alignments : Family Browser (UCSC)LRGUK
Gene fusions - Rearrangements
Fusion: Tumor Portal LRGUK
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerLRGUK [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)LRGUK
dbVarLRGUK
ClinVarLRGUK
1000_GenomesLRGUK 
Exome Variant ServerLRGUK
ExAC (Exome Aggregation Consortium)ENSG00000155530
GNOMAD BrowserENSG00000155530
Genetic variants : HAPMAP136332
Genomic Variants (DGV)LRGUK [DGVbeta]
DECIPHERLRGUK [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisLRGUK 
Mutations
ICGC Data PortalLRGUK 
TCGA Data PortalLRGUK 
Broad Tumor PortalLRGUK
OASIS PortalLRGUK [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICLRGUK  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDLRGUK
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
BioMutasearch LRGUK
DgiDB (Drug Gene Interaction Database)LRGUK
DoCM (Curated mutations)LRGUK (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)LRGUK (select a term)
intoGenLRGUK
Cancer3DLRGUK(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616478   
Orphanet
MedgenLRGUK
Genetic Testing Registry LRGUK
NextProtQ96M69 [Medical]
TSGene136332
GENETestsLRGUK
Target ValidationLRGUK
Huge Navigator LRGUK [HugePedia]
snp3D : Map Gene to Disease136332
BioCentury BCIQLRGUK
ClinGenLRGUK
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD136332
Chemical/Pharm GKB GenePA162394330
Clinical trialLRGUK
Miscellaneous
canSAR (ICR)LRGUK (select the gene name)
Probes
Litterature
PubMed6 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineLRGUK
EVEXLRGUK
GoPubMedLRGUK
iHOPLRGUK
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Nov 9 12:11:31 CET 2017

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