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AGRN (agrin)

Identity

Other namesCMS8
CMSPPD
HGNC (Hugo) AGRN
LocusID (NCBI) 375790
Atlas_Id 49849
Location 1p36.33
Location_base_pair Starts at 955503 and ends at 991499 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
AGRN (1p36.33) / AGRN (1p36.33)AGRN (1p36.33) / AKT1 (14q32.33)AGRN (1p36.33) / HMGB3 (Xq28)
AGRN (1p36.33) / NOC4L (12q24.33)AGRN (1p36.33) / RPL13 (16q24.3)AGRN (1p36.33) / TIMM50 (19q13.2)
AGRN (1p36.33) / TMEM8A (16p13.3)AGRN (1p36.33) / UBE2J2 (1p36.33)PUSL1 (1p36.33) / AGRN (1p36.33)
AGRN 1p36.33 / NOC4L 12q24.33PUSL1 1p36.33 / AGRN 1p36.33

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)AGRN   329
Cards
Entrez_Gene (NCBI)AGRN  375790  agrin
AliasesCMS8; CMSPPD
GeneCards (Weizmann)AGRN
Ensembl hg19 (Hinxton)ENSG00000188157 [Gene_View]  chr1:955503-991499 [Contig_View]  AGRN [Vega]
Ensembl hg38 (Hinxton)ENSG00000188157 [Gene_View]  chr1:955503-991499 [Contig_View]  AGRN [Vega]
ICGC DataPortalENSG00000188157
TCGA cBioPortalAGRN
AceView (NCBI)AGRN
Genatlas (Paris)AGRN
WikiGenes375790
SOURCE (Princeton)AGRN
Genomic and cartography
GoldenPath hg19 (UCSC)AGRN  -     chr1:955503-991499 +  1p36.33   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)AGRN  -     1p36.33   [Description]    (hg38-Dec_2013)
EnsemblAGRN - 1p36.33 [CytoView hg19]  AGRN - 1p36.33 [CytoView hg38]
Mapping of homologs : NCBIAGRN [Mapview hg19]  AGRN [Mapview hg38]
OMIM103320   615120   
Gene and transcription
Genbank (Entrez)AB191264 AF016903 AJ309206 AK021586 AK125197
RefSeq transcript (Entrez)NM_001305275 NM_198576
RefSeq genomic (Entrez)NC_000001 NC_018912 NG_016346 NT_032977 NW_004929288
Consensus coding sequences : CCDS (NCBI)AGRN
Cluster EST : UnigeneHs.602356 [ NCBI ]
CGAP (NCI)Hs.602356
Alternative Splicing GalleryENSG00000188157
Gene ExpressionAGRN [ NCBI-GEO ]   AGRN [ EBI - ARRAY_EXPRESS ]   AGRN [ SEEK ]   AGRN [ MEM ]
Gene Expression Viewer (FireBrowse)AGRN [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)375790
GTEX Portal (Tissue expression)AGRN
Protein : pattern, domain, 3D structure
UniProt/SwissProtO00468 (Uniprot)
NextProtO00468  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO00468
Splice isoforms : SwissVarO00468 (Swissvar)
PhosPhoSitePlusO00468
Domaine pattern : Prosite (Expaxy)EGF_1 (PS00022)    EGF_2 (PS01186)    EGF_3 (PS50026)    EGF_LAM_1 (PS01248)    EGF_LAM_2 (PS50027)    KAZAL_2 (PS51465)    LAM_G_DOMAIN (PS50025)    NTA (PS51121)    SEA (PS50024)   
Domains : Interpro (EBI)ConA-like_dom    EGF-like_CS    EGF-like_dom    Fol_N    Kazal_dom    Laminin_EGF    Laminin_G    NtA_dom    SEA_dom    TIMP-like_OB-fold   
Domain families : Pfam (Sanger)EGF (PF00008)    Kazal_1 (PF00050)    Kazal_2 (PF07648)    Laminin_EGF (PF00053)    Laminin_G_1 (PF00054)    NtA (PF03146)    SEA (PF01390)   
Domain families : Pfam (NCBI)pfam00008    pfam00050    pfam07648    pfam00053    pfam00054    pfam03146    pfam01390   
Domain families : Smart (EMBL)EGF (SM00181)  EGF_Lam (SM00180)  FOLN (SM00274)  KAZAL (SM00280)  LamG (SM00282)  SEA (SM00200)  
DMDM Disease mutations375790
Blocks (Seattle)AGRN
SuperfamilyO00468
Human Protein AtlasENSG00000188157
Peptide AtlasO00468
HPRD10550
IPIIPI00374563   IPI00514026   IPI00976820   
Protein Interaction databases
DIP (DOE-UCLA)O00468
IntAct (EBI)O00468
FunCoupENSG00000188157
BioGRIDAGRN
STRING (EMBL)AGRN
ZODIACAGRN
Ontologies - Pathways
QuickGOO00468
Ontology : AmiGOretinoid metabolic process  dystroglycan binding  structural constituent of cytoskeleton  calcium ion binding  protein binding  extracellular region  basal lamina  cytoplasm  Golgi lumen  plasma membrane  plasma membrane  glycosaminoglycan biosynthetic process  glycosaminoglycan catabolic process  signal transduction  G-protein coupled acetylcholine receptor signaling pathway  integral component of membrane  cell junction  extracellular matrix organization  glycosaminoglycan metabolic process  extracellular matrix  extracellular matrix  extracellular matrix  sialic acid binding  chondroitin sulfate binding  receptor clustering  receptor clustering  lysosomal lumen  laminin binding  heparan sulfate proteoglycan binding  positive regulation of GTPase activity  clustering of voltage-gated sodium channels  synapse  positive regulation of synaptic growth at neuromuscular junction  positive regulation of transcription from RNA polymerase II promoter  synapse organization  positive regulation of filopodium assembly  extracellular exosome  
Ontology : EGO-EBIretinoid metabolic process  dystroglycan binding  structural constituent of cytoskeleton  calcium ion binding  protein binding  extracellular region  basal lamina  cytoplasm  Golgi lumen  plasma membrane  plasma membrane  glycosaminoglycan biosynthetic process  glycosaminoglycan catabolic process  signal transduction  G-protein coupled acetylcholine receptor signaling pathway  integral component of membrane  cell junction  extracellular matrix organization  glycosaminoglycan metabolic process  extracellular matrix  extracellular matrix  extracellular matrix  sialic acid binding  chondroitin sulfate binding  receptor clustering  receptor clustering  lysosomal lumen  laminin binding  heparan sulfate proteoglycan binding  positive regulation of GTPase activity  clustering of voltage-gated sodium channels  synapse  positive regulation of synaptic growth at neuromuscular junction  positive regulation of transcription from RNA polymerase II promoter  synapse organization  positive regulation of filopodium assembly  extracellular exosome  
Pathways : BIOCARTAAgrin in Postsynaptic Differentiation [Genes]   
Pathways : KEGGECM-receptor interaction   
NDEx Network
Atlas of Cancer Signalling NetworkAGRN
Wikipedia pathwaysAGRN
Orthology - Evolution
OrthoDB375790
GeneTree (enSembl)ENSG00000188157
Phylogenetic Trees/Animal Genes : TreeFamAGRN
Homologs : HomoloGeneAGRN
Homology/Alignments : Family Browser (UCSC)AGRN
Gene fusions - Rearrangements
Fusion: TCGAAGRN 1p36.33 NOC4L 12q24.33 BRCA LUSC
Fusion: TCGAPUSL1 1p36.33 AGRN 1p36.33 LUSC
Polymorphisms : SNP, variants
NCBI Variation ViewerAGRN [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AGRN
dbVarAGRN
ClinVarAGRN
1000_GenomesAGRN 
Exome Variant ServerAGRN
ExAC (Exome Aggregation Consortium)AGRN (select the gene name)
Genetic variants : HAPMAP375790
Genomic Variants (DGV)AGRN [DGVbeta]
Mutations
ICGC Data PortalAGRN 
TCGA Data PortalAGRN 
Broad Tumor PortalAGRN
OASIS PortalAGRN [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAGRN 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch AGRN
DgiDB (Drug Gene Interaction Database)AGRN
DoCM (Curated mutations)AGRN (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AGRN (select a term)
intoGenAGRN
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)1:955503-991499  ENSG00000188157
CONAN: Copy Number AnalysisAGRN 
Mutations and Diseases : HGMDAGRN
OMIM103320    615120   
MedgenAGRN
Genetic Testing Registry AGRN
NextProtO00468 [Medical]
TSGene375790
GENETestsAGRN
Huge Navigator AGRN [HugePedia]
snp3D : Map Gene to Disease375790
BioCentury BCIQAGRN
ClinGenAGRN
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD375790
Chemical/Pharm GKB GenePA24626
Clinical trialAGRN
Miscellaneous
canSAR (ICR)AGRN (select the gene name)
Probes
Litterature
PubMed53 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAGRN
EVEXAGRN
GoPubMedAGRN
iHOPAGRN
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat May 28 10:53:15 CEST 2016

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