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CELSR3 (cadherin EGF LAG seven-pass G-type receptor 3)

Identity

Alias_namesEGFL1
cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog
cadherin, EGF LAG seven-pass G-type receptor 3
Alias_symbol (synonym)MEGF2
HFMI1
FMI1
CDHF11
ADGRC3
Other aliasRESDA1
HGNC (Hugo) CELSR3
LocusID (NCBI) 1951
Atlas_Id 52979
Location 3p21.31  [Link to chromosome band 3p21]
Location_base_pair Starts at 48673896 and ends at 48700348 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CELSR3 (3p21.31) / CELSR3 (3p21.31)CELSR3 (3p21.31) / DEXI (16p13.13)CELSR3 (3p21.31) / NCKIPSD (3p21.31)
DEXI (16p13.13) / CELSR3 (3p21.31)DYNC1H1 (14q32.31) / CELSR3 (3p21.31)KMT2A (11q23.3) / CELSR3 (3p21.31)
NCKIPSD (3p21.31) / CELSR3 (3p21.31)SEC63 (6q21) / CELSR3 (3p21.31)

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)CELSR3   3230
Cards
Entrez_Gene (NCBI)CELSR3  1951  cadherin EGF LAG seven-pass G-type receptor 3
AliasesADGRC3; CDHF11; EGFL1; FMI1; 
HFMI1; MEGF2; RESDA1
GeneCards (Weizmann)CELSR3
Ensembl hg19 (Hinxton)ENSG00000008300 [Gene_View]  chr3:48673896-48700348 [Contig_View]  CELSR3 [Vega]
Ensembl hg38 (Hinxton)ENSG00000008300 [Gene_View]  chr3:48673896-48700348 [Contig_View]  CELSR3 [Vega]
ICGC DataPortalENSG00000008300
TCGA cBioPortalCELSR3
AceView (NCBI)CELSR3
Genatlas (Paris)CELSR3
WikiGenes1951
SOURCE (Princeton)CELSR3
Genetics Home Reference (NIH)CELSR3
Genomic and cartography
GoldenPath hg19 (UCSC)CELSR3  -     chr3:48673896-48700348 -  3p21.31   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CELSR3  -     3p21.31   [Description]    (hg38-Dec_2013)
EnsemblCELSR3 - 3p21.31 [CytoView hg19]  CELSR3 - 3p21.31 [CytoView hg38]
Mapping of homologs : NCBICELSR3 [Mapview hg19]  CELSR3 [Mapview hg38]
OMIM604264   
Gene and transcription
Genbank (Entrez)AA411204 AB011536 AF231023 AK299868 BC111703
RefSeq transcript (Entrez)NM_001407
RefSeq genomic (Entrez)NC_000003 NC_018914 NG_034061 NT_022517 NW_004929309
Consensus coding sequences : CCDS (NCBI)CELSR3
Cluster EST : UnigeneHs.631926 [ NCBI ]
CGAP (NCI)Hs.631926
Alternative Splicing GalleryENSG00000008300
Gene ExpressionCELSR3 [ NCBI-GEO ]   CELSR3 [ EBI - ARRAY_EXPRESS ]   CELSR3 [ SEEK ]   CELSR3 [ MEM ]
Gene Expression Viewer (FireBrowse)CELSR3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1951
GTEX Portal (Tissue expression)CELSR3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NYQ7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NYQ7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NYQ7
Splice isoforms : SwissVarQ9NYQ7
PhosPhoSitePlusQ9NYQ7
Domaine pattern : Prosite (Expaxy)ASX_HYDROXYL (PS00010)    CADHERIN_1 (PS00232)    CADHERIN_2 (PS50268)    EGF_1 (PS00022)    EGF_2 (PS01186)    EGF_3 (PS50026)    EGF_LAM_1 (PS01248)    EGF_LAM_2 (PS50027)    G_PROTEIN_RECEP_F2_2 (PS00650)    G_PROTEIN_RECEP_F2_3 (PS50227)    G_PROTEIN_RECEP_F2_4 (PS50261)    GPS (PS50221)    LAM_G_DOMAIN (PS50025)   
Domains : Interpro (EBI)Cadherin    Cadherin-like    Cadherin_CS    ConA-like_dom    EGF-like_CS    EGF-like_dom    GAIN_dom_N    GPCR_2-like    GPCR_2_extracellular_dom    GPCR_2_secretin-like    GPCR_2_secretin-like_CS    GPS    Laminin_EGF    Laminin_G   
Domain families : Pfam (Sanger)7tm_2 (PF00002)    Cadherin (PF00028)    EGF (PF00008)    GAIN (PF16489)    GPS (PF01825)    Laminin_EGF (PF00053)    Laminin_G_2 (PF02210)   
Domain families : Pfam (NCBI)pfam00002    pfam00028    pfam00008    pfam16489    pfam01825    pfam00053    pfam02210   
Domain families : Smart (EMBL)CA (SM00112)  EGF (SM00181)  EGF_Lam (SM00180)  GPS (SM00303)  HormR (SM00008)  LamG (SM00282)  
Conserved Domain (NCBI)CELSR3
DMDM Disease mutations1951
Blocks (Seattle)CELSR3
SuperfamilyQ9NYQ7
Human Protein AtlasENSG00000008300
Peptide AtlasQ9NYQ7
HPRD09179
IPIIPI00015345   IPI00798152   
Protein Interaction databases
DIP (DOE-UCLA)Q9NYQ7
IntAct (EBI)Q9NYQ7
FunCoupENSG00000008300
BioGRIDCELSR3
STRING (EMBL)CELSR3
ZODIACCELSR3
Ontologies - Pathways
QuickGOQ9NYQ7
Ontology : AmiGOneuron migration  regulation of protein phosphorylation  G-protein coupled receptor activity  calcium ion binding  protein binding  plasma membrane  homophilic cell adhesion via plasma membrane adhesion molecules  G-protein coupled receptor signaling pathway  axonal fasciculation  integral component of membrane  regulation of protein localization  dopaminergic neuron axon guidance  serotonergic neuron axon guidance  cilium assembly  Wnt signaling pathway, planar cell polarity pathway  
Ontology : EGO-EBIneuron migration  regulation of protein phosphorylation  G-protein coupled receptor activity  calcium ion binding  protein binding  plasma membrane  homophilic cell adhesion via plasma membrane adhesion molecules  G-protein coupled receptor signaling pathway  axonal fasciculation  integral component of membrane  regulation of protein localization  dopaminergic neuron axon guidance  serotonergic neuron axon guidance  cilium assembly  Wnt signaling pathway, planar cell polarity pathway  
NDEx NetworkCELSR3
Atlas of Cancer Signalling NetworkCELSR3
Wikipedia pathwaysCELSR3
Orthology - Evolution
OrthoDB1951
GeneTree (enSembl)ENSG00000008300
Phylogenetic Trees/Animal Genes : TreeFamCELSR3
HOVERGENQ9NYQ7
HOGENOMQ9NYQ7
Homologs : HomoloGeneCELSR3
Homology/Alignments : Family Browser (UCSC)CELSR3
Gene fusions - Rearrangements
Fusion : MitelmanNCKIPSD/CELSR3 [3p21.31/3p21.31]  [t(3;3)(p21;p21)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCELSR3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CELSR3
dbVarCELSR3
ClinVarCELSR3
1000_GenomesCELSR3 
Exome Variant ServerCELSR3
ExAC (Exome Aggregation Consortium)CELSR3 (select the gene name)
Genetic variants : HAPMAP1951
Genomic Variants (DGV)CELSR3 [DGVbeta]
DECIPHER (Syndromes)3:48673896-48700348  ENSG00000008300
CONAN: Copy Number AnalysisCELSR3 
Mutations
ICGC Data PortalCELSR3 
TCGA Data PortalCELSR3 
Broad Tumor PortalCELSR3
OASIS PortalCELSR3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCELSR3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCELSR3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CELSR3
DgiDB (Drug Gene Interaction Database)CELSR3
DoCM (Curated mutations)CELSR3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CELSR3 (select a term)
intoGenCELSR3
Cancer3DCELSR3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604264   
Orphanet
MedgenCELSR3
Genetic Testing Registry CELSR3
NextProtQ9NYQ7 [Medical]
TSGene1951
GENETestsCELSR3
Huge Navigator CELSR3 [HugePedia]
snp3D : Map Gene to Disease1951
BioCentury BCIQCELSR3
ClinGenCELSR3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1951
Chemical/Pharm GKB GenePA26395
Clinical trialCELSR3
Miscellaneous
canSAR (ICR)CELSR3 (select the gene name)
Probes
Litterature
PubMed20 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCELSR3
EVEXCELSR3
GoPubMedCELSR3
iHOPCELSR3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 14:56:09 CEST 2017

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