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NVL (nuclear VCP-like)

Identity

Alias_symbol (synonym)NVL2
Other alias
HGNC (Hugo) NVL
LocusID (NCBI) 4931
Atlas_Id 46210
Location 1q42.11  [Link to chromosome band 1q42]
Location_base_pair Starts at 224227334 and ends at 224330189 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ELMSAN1 (14q24.3) / NVL (1q42.11)FASTKD2 (2q33.3) / NVL (1q42.11)NVL (1q42.11) / FMN2 (1q43)
NVL (1q42.11) / NEK2 (1q32.3)NVL (1q42.11) / RPL8 (8q24.3)PIK3CB (3q22.3) / NVL (1q42.11)
SUSD4 (1q41) / NVL (1q42.11)NVL 1q42.11 / NEK2 1q32.3SUSD4 1q41 / NVL 1q42.11

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)NVL   8070
Cards
Entrez_Gene (NCBI)NVL  4931  nuclear VCP-like
AliasesNVL2
GeneCards (Weizmann)NVL
Ensembl hg19 (Hinxton)ENSG00000143748 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000143748 [Gene_View]  chr1:224227334-224330189 [Contig_View]  NVL [Vega]
ICGC DataPortalENSG00000143748
TCGA cBioPortalNVL
AceView (NCBI)NVL
Genatlas (Paris)NVL
WikiGenes4931
SOURCE (Princeton)NVL
Genetics Home Reference (NIH)NVL
Genomic and cartography
GoldenPath hg38 (UCSC)NVL  -     chr1:224227334-224330189 -  1q42.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NVL  -     1q42.11   [Description]    (hg19-Feb_2009)
EnsemblNVL - 1q42.11 [CytoView hg19]  NVL - 1q42.11 [CytoView hg38]
Mapping of homologs : NCBINVL [Mapview hg19]  NVL [Mapview hg38]
OMIM602426   
Gene and transcription
Genbank (Entrez)AF401208 AK293923 AK297070 AK297396 AK298244
RefSeq transcript (Entrez)NM_001243146 NM_001243147 NM_002533 NM_206840
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NVL
Cluster EST : UnigeneHs.497867 [ NCBI ]
CGAP (NCI)Hs.497867
Alternative Splicing GalleryENSG00000143748
Gene ExpressionNVL [ NCBI-GEO ]   NVL [ EBI - ARRAY_EXPRESS ]   NVL [ SEEK ]   NVL [ MEM ]
Gene Expression Viewer (FireBrowse)NVL [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4931
GTEX Portal (Tissue expression)NVL
Protein : pattern, domain, 3D structure
UniProt/SwissProtO15381   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO15381  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO15381
Splice isoforms : SwissVarO15381
PhosPhoSitePlusO15381
Domaine pattern : Prosite (Expaxy)AAA (PS00674)   
Domains : Interpro (EBI)AAA+_ATPase    ATPase_AAA_core    ATPase_AAA_CS    NVL2_nucleolin-bd    P-loop_NTPase   
Domain families : Pfam (Sanger)AAA (PF00004)    Nucleolin_bd (PF16725)   
Domain families : Pfam (NCBI)pfam00004    pfam16725   
Domain families : Smart (EMBL)AAA (SM00382)  
Conserved Domain (NCBI)NVL
DMDM Disease mutations4931
Blocks (Seattle)NVL
PDB (SRS)2X8A   
PDB (PDBSum)2X8A   
PDB (IMB)2X8A   
PDB (RSDB)2X8A   
Structural Biology KnowledgeBase2X8A   
SCOP (Structural Classification of Proteins)2X8A   
CATH (Classification of proteins structures)2X8A   
SuperfamilyO15381
Human Protein AtlasENSG00000143748
Peptide AtlasO15381
HPRD03887
IPIIPI00006197   IPI00183080   IPI00185801   IPI01012615   IPI00641399   IPI00946072   IPI00945929   IPI00946389   IPI00945693   IPI00946248   IPI00946243   IPI00946392   
Protein Interaction databases
DIP (DOE-UCLA)O15381
IntAct (EBI)O15381
FunCoupENSG00000143748
BioGRIDNVL
STRING (EMBL)NVL
ZODIACNVL
Ontologies - Pathways
QuickGOO15381
Ontology : AmiGORNA binding  protein binding  ATP binding  nucleus  nucleoplasm  telomerase holoenzyme complex  nucleolus  membrane  ribosome biogenesis  positive regulation of telomerase activity  preribosome binding  
Ontology : EGO-EBIRNA binding  protein binding  ATP binding  nucleus  nucleoplasm  telomerase holoenzyme complex  nucleolus  membrane  ribosome biogenesis  positive regulation of telomerase activity  preribosome binding  
Pathways : KEGGRibosome biogenesis in eukaryotes   
NDEx NetworkNVL
Atlas of Cancer Signalling NetworkNVL
Wikipedia pathwaysNVL
Orthology - Evolution
OrthoDB4931
GeneTree (enSembl)ENSG00000143748
Phylogenetic Trees/Animal Genes : TreeFamNVL
HOVERGENO15381
HOGENOMO15381
Homologs : HomoloGeneNVL
Homology/Alignments : Family Browser (UCSC)NVL
Gene fusions - Rearrangements
Fusion : MitelmanNVL/FMN2 [1q42.11/1q43]  
Fusion : MitelmanNVL/NEK2 [1q42.11/1q32.3]  [t(1;1)(q32;q42)]  
Fusion : MitelmanSUSD4/NVL [1q41/1q42.11]  [t(1;1)(q41;q42)]  
Fusion: TCGANVL 1q42.11 NEK2 1q32.3 BRCA
Fusion: TCGASUSD4 1q41 NVL 1q42.11 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNVL [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NVL
dbVarNVL
ClinVarNVL
1000_GenomesNVL 
Exome Variant ServerNVL
ExAC (Exome Aggregation Consortium)NVL (select the gene name)
Genetic variants : HAPMAP4931
Genomic Variants (DGV)NVL [DGVbeta]
DECIPHERNVL [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNVL 
Mutations
ICGC Data PortalNVL 
TCGA Data PortalNVL 
Broad Tumor PortalNVL
OASIS PortalNVL [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNVL  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNVL
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 NVL
DgiDB (Drug Gene Interaction Database)NVL
DoCM (Curated mutations)NVL (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NVL (select a term)
intoGenNVL
Cancer3DNVL(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602426   
Orphanet
MedgenNVL
Genetic Testing Registry NVL
NextProtO15381 [Medical]
TSGene4931
GENETestsNVL
Target ValidationNVL
Huge Navigator NVL [HugePedia]
snp3D : Map Gene to Disease4931
BioCentury BCIQNVL
ClinGenNVL
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4931
Chemical/Pharm GKB GenePA31857
Clinical trialNVL
Miscellaneous
canSAR (ICR)NVL (select the gene name)
Probes
Litterature
PubMed31 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNVL
EVEXNVL
GoPubMedNVL
iHOPNVL
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:47:45 CEST 2017

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