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NELL1 (neural EGFL like 1)

Identity

Alias_namesnel (chicken)-like 1
NEL-like 1 (chicken)
Alias_symbol (synonym)IDH3GL
FLJ45906
Other aliasNRP1
HGNC (Hugo) NELL1
LocusID (NCBI) 4745
Atlas_Id 41523
Location 11p15.1  [Link to chromosome band 11p15]
Location_base_pair Starts at 20669551 and ends at 21575683 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)
NELL1 (11p15.1) / CCDC83 (11q14.1)NELL1 (11p15.1) / MYT1L (2p25.3)NELL1 (11p15.1) / NAV3 (12q21.2)
NELL1 (11p15.1) / SLC6A5 (11p15.1)NELL1 (11p15.1) / SYT1 (12q21.2)NELL1 11p15.1 / CCDC83 11q14.1

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) [ 3 ]
  t(11;11)(p15;q14) NELL1/CCDC83
t(11;12)(p15;q21) NELL1/NAV3
t(11;12)(p15;q21) NELL1/SYT1

External links

Nomenclature
HGNC (Hugo)NELL1   7750
Cards
Entrez_Gene (NCBI)NELL1  4745  neural EGFL like 1
AliasesIDH3GL; NRP1
GeneCards (Weizmann)NELL1
Ensembl hg19 (Hinxton)ENSG00000165973 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000165973 [Gene_View]  ENSG00000165973 [Sequence]  chr11:20669551-21575683 [Contig_View]  NELL1 [Vega]
ICGC DataPortalENSG00000165973
TCGA cBioPortalNELL1
AceView (NCBI)NELL1
Genatlas (Paris)NELL1
WikiGenes4745
SOURCE (Princeton)NELL1
Genetics Home Reference (NIH)NELL1
Genomic and cartography
GoldenPath hg38 (UCSC)NELL1  -     chr11:20669551-21575683 +  11p15.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NELL1  -     11p15.1   [Description]    (hg19-Feb_2009)
GoldenPathNELL1 - 11p15.1 [CytoView hg19]  NELL1 - 11p15.1 [CytoView hg38]
ImmunoBaseENSG00000165973
Mapping of homologs : NCBINELL1 [Mapview hg19]  NELL1 [Mapview hg38]
OMIM602319   
Gene and transcription
Genbank (Entrez)AA971151 AB085898 AK093338 AK127805 AK299558
RefSeq transcript (Entrez)NM_001288713 NM_001288714 NM_006157 NM_201551
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NELL1
Cluster EST : UnigeneHs.657172 [ NCBI ]
CGAP (NCI)Hs.657172
Alternative Splicing GalleryENSG00000165973
Gene ExpressionNELL1 [ NCBI-GEO ]   NELL1 [ EBI - ARRAY_EXPRESS ]   NELL1 [ SEEK ]   NELL1 [ MEM ]
Gene Expression Viewer (FireBrowse)NELL1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4745
GTEX Portal (Tissue expression)NELL1
Human Protein AtlasENSG00000165973-NELL1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92832   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ92832  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ92832
Splice isoforms : SwissVarQ92832
PhosPhoSitePlusQ92832
Domaine pattern : Prosite (Expaxy)ASX_HYDROXYL (PS00010)    EGF_1 (PS00022)    EGF_2 (PS01186)    EGF_3 (PS50026)    EGF_CA (PS01187)    VWFC_1 (PS01208)    VWFC_2 (PS50184)   
Domains : Interpro (EBI)ConA-like_dom_sf    EGF-like_Ca-bd_dom    EGF-like_CS    EGF-like_dom    EGF-type_Asp/Asn_hydroxyl_site    EGF_Ca-bd_CS    EGF_dom    Growth_fac_rcpt_cys_sf    Laminin_G    VWF_dom   
Domain families : Pfam (Sanger)EGF_3 (PF12947)    EGF_CA (PF07645)    VWC (PF00093)   
Domain families : Pfam (NCBI)pfam12947    pfam07645    pfam00093   
Domain families : Smart (EMBL)EGF (SM00181)  EGF_CA (SM00179)  LamG (SM00282)  TSPN (SM00210)  VWC (SM00214)  VWC_out (SM00215)  
Conserved Domain (NCBI)NELL1
DMDM Disease mutations4745
Blocks (Seattle)NELL1
SuperfamilyQ92832
Human Protein Atlas [tissue]ENSG00000165973-NELL1 [tissue]
Peptide AtlasQ92832
HPRD09081
IPIIPI00974196   IPI00607581   IPI00910471   IPI00218110   IPI00298770   IPI00023754   
Protein Interaction databases
DIP (DOE-UCLA)Q92832
IntAct (EBI)Q92832
FunCoupENSG00000165973
BioGRIDNELL1
STRING (EMBL)NELL1
ZODIACNELL1
Ontologies - Pathways
QuickGOQ92832
Ontology : AmiGOprotein kinase C binding  calcium ion binding  protein binding  extracellular region  nuclear envelope  cytoplasm  cytoplasm  nervous system development  heparin binding  regulation of gene expression  cell differentiation  positive regulation of bone mineralization  negative regulation of osteoblast proliferation  positive regulation of osteoblast differentiation  perinuclear region of cytoplasm  negative regulation of cellular protein catabolic process  
Ontology : EGO-EBIprotein kinase C binding  calcium ion binding  protein binding  extracellular region  nuclear envelope  cytoplasm  cytoplasm  nervous system development  heparin binding  regulation of gene expression  cell differentiation  positive regulation of bone mineralization  negative regulation of osteoblast proliferation  positive regulation of osteoblast differentiation  perinuclear region of cytoplasm  negative regulation of cellular protein catabolic process  
NDEx NetworkNELL1
Atlas of Cancer Signalling NetworkNELL1
Wikipedia pathwaysNELL1
Orthology - Evolution
OrthoDB4745
GeneTree (enSembl)ENSG00000165973
Phylogenetic Trees/Animal Genes : TreeFamNELL1
HOGENOMQ92832
Homologs : HomoloGeneNELL1
Homology/Alignments : Family Browser (UCSC)NELL1
Gene fusions - Rearrangements
Fusion : MitelmanNELL1/CCDC83 [11p15.1/11q14.1]  
Fusion : MitelmanNELL1/NAV3 [11p15.1/12q21.2]  [t(11;12)(p15;q21)]  
Fusion : MitelmanNELL1/SYT1 [11p15.1/12q21.2]  [t(11;12)(p15;q21)]  
Fusion PortalNELL1 11p15.1 CCDC83 11q14.1 BRCA
Fusion : QuiverNELL1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNELL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NELL1
dbVarNELL1
ClinVarNELL1
1000_GenomesNELL1 
Exome Variant ServerNELL1
ExAC (Exome Aggregation Consortium)ENSG00000165973
GNOMAD BrowserENSG00000165973
Varsome BrowserNELL1
Genetic variants : HAPMAP4745
Genomic Variants (DGV)NELL1 [DGVbeta]
DECIPHERNELL1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNELL1 
Mutations
ICGC Data PortalNELL1 
TCGA Data PortalNELL1 
Broad Tumor PortalNELL1
OASIS PortalNELL1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNELL1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DNELL1
Mutations and Diseases : HGMDNELL1
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 NELL1
DgiDB (Drug Gene Interaction Database)NELL1
DoCM (Curated mutations)NELL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NELL1 (select a term)
intoGenNELL1
Cancer3DNELL1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602319   
Orphanet
DisGeNETNELL1
MedgenNELL1
Genetic Testing Registry NELL1
NextProtQ92832 [Medical]
TSGene4745
GENETestsNELL1
Target ValidationNELL1
Huge Navigator NELL1 [HugePedia]
snp3D : Map Gene to Disease4745
BioCentury BCIQNELL1
ClinGenNELL1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4745
Chemical/Pharm GKB GenePA31552
Clinical trialNELL1
Miscellaneous
canSAR (ICR)NELL1 (select the gene name)
DataMed IndexNELL1
Probes
Litterature
PubMed66 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNELL1
EVEXNELL1
GoPubMedNELL1
iHOPNELL1
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 : Wed Nov 13 17:57:47 CET 2019
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