Atlas of Genetics and Cytogenetics in Oncology and Haematology


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NRXN1 (neurexin 1)

Identity

Alias_symbol (synonym)KIAA0578
Hs.22998
Other aliasPTHSL2
SCZD17
HGNC (Hugo) NRXN1
LocusID (NCBI) 9378
Atlas_Id 52805
Location 2p16.3  [Link to chromosome band 2p16]
Location_base_pair Starts at 49918505 and ends at 51032536 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
KCNMB2 (3q26.32) / NRXN1 (2p16.3)NRXN1 (2p16.3) / NRXN1 (2p16.3)NRXN1 (2p16.3) / PLEKHG4B (5p15.33)
NRXN1 (2p16.3) / PPP2R2B (5q32)NRXN1 (2p16.3) / TTYH1 (19q13.42)PCDHA1 (5q31.3) / NRXN1 (2p16.3)
TREX2 (Xq28) / NRXN1 (2p16.3)

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 Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Lung: Translocations in Squamous Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)NRXN1   8008
Cards
Entrez_Gene (NCBI)NRXN1  9378  neurexin 1
AliasesHs.22998; PTHSL2; SCZD17
GeneCards (Weizmann)NRXN1
Ensembl hg19 (Hinxton)ENSG00000179915 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000179915 [Gene_View]  chr2:49918505-51032536 [Contig_View]  NRXN1 [Vega]
ICGC DataPortalENSG00000179915
TCGA cBioPortalNRXN1
AceView (NCBI)NRXN1
Genatlas (Paris)NRXN1
WikiGenes9378
SOURCE (Princeton)NRXN1
Genetics Home Reference (NIH)NRXN1
Genomic and cartography
GoldenPath hg38 (UCSC)NRXN1  -     chr2:49918505-51032536 -  2p16.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NRXN1  -     2p16.3   [Description]    (hg19-Feb_2009)
EnsemblNRXN1 - 2p16.3 [CytoView hg19]  NRXN1 - 2p16.3 [CytoView hg38]
Mapping of homologs : NCBINRXN1 [Mapview hg19]  NRXN1 [Mapview hg38]
OMIM600565   614325   614332   
Gene and transcription
Genbank (Entrez)AB011150 AB035356 AF064842 AF087975 AK093260
RefSeq transcript (Entrez)
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NRXN1
Cluster EST : UnigeneHs.637685 [ NCBI ]
CGAP (NCI)Hs.637685
Alternative Splicing GalleryENSG00000179915
Gene ExpressionNRXN1 [ NCBI-GEO ]   NRXN1 [ EBI - ARRAY_EXPRESS ]   NRXN1 [ SEEK ]   NRXN1 [ MEM ]
Gene Expression Viewer (FireBrowse)NRXN1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9378
GTEX Portal (Tissue expression)NRXN1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9ULB1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9ULB1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9ULB1
Splice isoforms : SwissVarQ9ULB1
PhosPhoSitePlusQ9ULB1
Domaine pattern : Prosite (Expaxy)ASX_HYDROXYL (PS00010)    EGF_3 (PS50026)    LAM_G_DOMAIN (PS50025)   
Domains : Interpro (EBI)ConA-like_dom    EGF-like_dom    EGF-type_Asp/Asn_hydroxyl_site    Laminin_G    Neurexin-1    Neurexin-like    Syndecan/Neurexin_dom   
Domain families : Pfam (Sanger)EGF (PF00008)    Laminin_G_2 (PF02210)    Syndecan (PF01034)   
Domain families : Pfam (NCBI)pfam00008    pfam02210    pfam01034   
Domain families : Smart (EMBL)4.1m (SM00294)  EGF (SM00181)  LamG (SM00282)  
Conserved Domain (NCBI)NRXN1
DMDM Disease mutations9378
Blocks (Seattle)NRXN1
SuperfamilyQ9ULB1
Human Protein AtlasENSG00000179915
Peptide AtlasQ9ULB1
HPRD11858
IPIIPI00428511   IPI00442299   IPI01010752   IPI00855821   IPI00910191   IPI01011971   IPI00942666   IPI00893903   IPI00892553   IPI00892821   IPI00893464   
Protein Interaction databases
DIP (DOE-UCLA)Q9ULB1
IntAct (EBI)Q9ULB1
FunCoupENSG00000179915
BioGRIDNRXN1
STRING (EMBL)NRXN1
ZODIACNRXN1
Ontologies - Pathways
QuickGOQ9ULB1
Ontology : AmiGOreceptor activity  calcium channel regulator activity  calcium ion binding  protein binding  endoplasmic reticulum  plasma membrane  plasma membrane  plasma membrane  integral component of plasma membrane  neuron cell-cell adhesion  chemical synaptic transmission  neurotransmitter secretion  axon guidance  synapse assembly  learning  cell surface  cell junction  adult behavior  nuclear membrane  vesicle  acetylcholine receptor binding  social behavior  vocal learning  presynaptic membrane  neuronal cell body  protein complex  cell adhesion molecule binding  neuromuscular process controlling balance  neuromuscular process controlling balance  positive regulation of synapse assembly  positive regulation of synaptic transmission, glutamatergic  prepulse inhibition  regulation of insulin secretion involved in cellular response to glucose stimulus  regulation of molecular function  vocalization behavior  positive regulation of synapse maturation  postsynaptic membrane assembly  neuroligin family protein binding  gephyrin clustering involved in postsynaptic density assembly  neuroligin clustering involved in postsynaptic membrane assembly  postsynaptic density protein 95 clustering  positive regulation of excitatory postsynaptic potential  regulation of grooming behavior  
Ontology : EGO-EBIreceptor activity  calcium channel regulator activity  calcium ion binding  protein binding  endoplasmic reticulum  plasma membrane  plasma membrane  plasma membrane  integral component of plasma membrane  neuron cell-cell adhesion  chemical synaptic transmission  neurotransmitter secretion  axon guidance  synapse assembly  learning  cell surface  cell junction  adult behavior  nuclear membrane  vesicle  acetylcholine receptor binding  social behavior  vocal learning  presynaptic membrane  neuronal cell body  protein complex  cell adhesion molecule binding  neuromuscular process controlling balance  neuromuscular process controlling balance  positive regulation of synapse assembly  positive regulation of synaptic transmission, glutamatergic  prepulse inhibition  regulation of insulin secretion involved in cellular response to glucose stimulus  regulation of molecular function  vocalization behavior  positive regulation of synapse maturation  postsynaptic membrane assembly  neuroligin family protein binding  gephyrin clustering involved in postsynaptic density assembly  neuroligin clustering involved in postsynaptic membrane assembly  postsynaptic density protein 95 clustering  positive regulation of excitatory postsynaptic potential  regulation of grooming behavior  
Pathways : KEGGCell adhesion molecules (CAMs)   
NDEx NetworkNRXN1
Atlas of Cancer Signalling NetworkNRXN1
Wikipedia pathwaysNRXN1
Orthology - Evolution
OrthoDB9378
GeneTree (enSembl)ENSG00000179915
Phylogenetic Trees/Animal Genes : TreeFamNRXN1
HOVERGENQ9ULB1
HOGENOMQ9ULB1
Homologs : HomoloGeneNRXN1
Homology/Alignments : Family Browser (UCSC)NRXN1
Gene fusions - Rearrangements
Fusion : MitelmanKCNMB2/NRXN1 [3q26.32/2p16.3]  [t(2;3)(p16;q26)]  
Fusion : MitelmanNRXN1/PLEKHG4B [2p16.3/5p15.33]  [t(2;5)(p16;p15)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNRXN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NRXN1
dbVarNRXN1
ClinVarNRXN1
1000_GenomesNRXN1 
Exome Variant ServerNRXN1
ExAC (Exome Aggregation Consortium)NRXN1 (select the gene name)
Genetic variants : HAPMAP9378
Genomic Variants (DGV)NRXN1 [DGVbeta]
DECIPHERNRXN1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNRXN1 
Mutations
ICGC Data PortalNRXN1 
TCGA Data PortalNRXN1 
Broad Tumor PortalNRXN1
OASIS PortalNRXN1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNRXN1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNRXN1
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 NRXN1
DgiDB (Drug Gene Interaction Database)NRXN1
DoCM (Curated mutations)NRXN1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NRXN1 (select a term)
intoGenNRXN1
Cancer3DNRXN1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600565    614325    614332   
Orphanet18950   
MedgenNRXN1
Genetic Testing Registry NRXN1
NextProtQ9ULB1 [Medical]
TSGene9378
GENETestsNRXN1
Huge Navigator NRXN1 [HugePedia]
snp3D : Map Gene to Disease9378
BioCentury BCIQNRXN1
ClinGenNRXN1 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9378
Chemical/Pharm GKB GenePA31786
Clinical trialNRXN1
Miscellaneous
canSAR (ICR)NRXN1 (select the gene name)
Probes
Litterature
PubMed118 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNRXN1
EVEXNRXN1
GoPubMedNRXN1
iHOPNRXN1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:29:15 CEST 2017

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