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NIPA1 (non imprinted in Prader-Willi/Angelman syndrome 1)

Identity

Alias_namesSPG6
spastic paraplegia 6 (autosomal dominant)
Alias_symbol (synonym)MGC35570
Other aliasFSP3
HGNC (Hugo) NIPA1
LocusID (NCBI) 123606
Atlas_Id 70837
Location 15q11.2  [Link to chromosome band 15q11]
Location_base_pair Starts at 23043279 and ends at 23086843 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
NIPA1 (15q11.2) / SMPD1 (11p15.4)

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)NIPA1   17043
Cards
Entrez_Gene (NCBI)NIPA1  123606  non imprinted in Prader-Willi/Angelman syndrome 1
AliasesFSP3; SPG6
GeneCards (Weizmann)NIPA1
Ensembl hg19 (Hinxton)ENSG00000170113 [Gene_View]  chr15:23043279-23086843 [Contig_View]  NIPA1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000170113 [Gene_View]  chr15:23043279-23086843 [Contig_View]  NIPA1 [Vega]
ICGC DataPortalENSG00000170113
TCGA cBioPortalNIPA1
AceView (NCBI)NIPA1
Genatlas (Paris)NIPA1
WikiGenes123606
SOURCE (Princeton)NIPA1
Genetics Home Reference (NIH)NIPA1
Genomic and cartography
GoldenPath hg19 (UCSC)NIPA1  -     chr15:23043279-23086843 -  15q11.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)NIPA1  -     15q11.2   [Description]    (hg38-Dec_2013)
EnsemblNIPA1 - 15q11.2 [CytoView hg19]  NIPA1 - 15q11.2 [CytoView hg38]
Mapping of homologs : NCBINIPA1 [Mapview hg19]  NIPA1 [Mapview hg38]
OMIM600363   608145   
Gene and transcription
Genbank (Entrez)AB089319 AK057846 AK314073 BC025678 BC103705
RefSeq transcript (Entrez)NM_001142275 NM_144599
RefSeq genomic (Entrez)NC_000015 NC_018926 NG_009056 NT_078094 NW_004929396
Consensus coding sequences : CCDS (NCBI)NIPA1
Cluster EST : UnigeneHs.511797 [ NCBI ]
CGAP (NCI)Hs.511797
Alternative Splicing GalleryENSG00000170113
Gene ExpressionNIPA1 [ NCBI-GEO ]   NIPA1 [ EBI - ARRAY_EXPRESS ]   NIPA1 [ SEEK ]   NIPA1 [ MEM ]
Gene Expression Viewer (FireBrowse)NIPA1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)123606
GTEX Portal (Tissue expression)NIPA1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ7RTP0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ7RTP0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ7RTP0
Splice isoforms : SwissVarQ7RTP0
PhosPhoSitePlusQ7RTP0
Domains : Interpro (EBI)Mg_trans_NIPA   
Domain families : Pfam (Sanger)Mg_trans_NIPA (PF05653)   
Domain families : Pfam (NCBI)pfam05653   
Conserved Domain (NCBI)NIPA1
DMDM Disease mutations123606
Blocks (Seattle)NIPA1
SuperfamilyQ7RTP0
Human Protein AtlasENSG00000170113
Peptide AtlasQ7RTP0
HPRD10487
IPIIPI00394901   IPI00477060   IPI01010785   
Protein Interaction databases
DIP (DOE-UCLA)Q7RTP0
IntAct (EBI)Q7RTP0
FunCoupENSG00000170113
BioGRIDNIPA1
STRING (EMBL)NIPA1
ZODIACNIPA1
Ontologies - Pathways
QuickGOQ7RTP0
Ontology : AmiGOearly endosome  plasma membrane  magnesium ion transmembrane transporter activity  magnesium ion transport  integral component of membrane  transmembrane transport  
Ontology : EGO-EBIearly endosome  plasma membrane  magnesium ion transmembrane transporter activity  magnesium ion transport  integral component of membrane  transmembrane transport  
NDEx NetworkNIPA1
Atlas of Cancer Signalling NetworkNIPA1
Wikipedia pathwaysNIPA1
Orthology - Evolution
OrthoDB123606
GeneTree (enSembl)ENSG00000170113
Phylogenetic Trees/Animal Genes : TreeFamNIPA1
HOVERGENQ7RTP0
HOGENOMQ7RTP0
Homologs : HomoloGeneNIPA1
Homology/Alignments : Family Browser (UCSC)NIPA1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNIPA1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NIPA1
dbVarNIPA1
ClinVarNIPA1
1000_GenomesNIPA1 
Exome Variant ServerNIPA1
ExAC (Exome Aggregation Consortium)NIPA1 (select the gene name)
Genetic variants : HAPMAP123606
Genomic Variants (DGV)NIPA1 [DGVbeta]
DECIPHER (Syndromes)15:23043279-23086843  ENSG00000170113
CONAN: Copy Number AnalysisNIPA1 
Mutations
ICGC Data PortalNIPA1 
TCGA Data PortalNIPA1 
Broad Tumor PortalNIPA1
OASIS PortalNIPA1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNIPA1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNIPA1
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
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch NIPA1
DgiDB (Drug Gene Interaction Database)NIPA1
DoCM (Curated mutations)NIPA1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NIPA1 (select a term)
intoGenNIPA1
Cancer3DNIPA1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600363    608145   
Orphanet14699   
MedgenNIPA1
Genetic Testing Registry NIPA1
NextProtQ7RTP0 [Medical]
TSGene123606
GENETestsNIPA1
Huge Navigator NIPA1 [HugePedia]
snp3D : Map Gene to Disease123606
BioCentury BCIQNIPA1
ClinGenNIPA1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD123606
Chemical/Pharm GKB GenePA134967361
Clinical trialNIPA1
Miscellaneous
canSAR (ICR)NIPA1 (select the gene name)
Probes
Litterature
PubMed26 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNIPA1
EVEXNIPA1
GoPubMedNIPA1
iHOPNIPA1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:34:56 CET 2017

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