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NIPSNAP1 (nipsnap homolog 1)

Identity

Alias_namesNIPSNAP
Other alias-
HGNC (Hugo) NIPSNAP1
LocusID (NCBI) 8508
Atlas_Id 55212
Location 22q12.2  [Link to chromosome band 22q12]
Location_base_pair Starts at 29554809 and ends at 29581096 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
NIPSNAP1 (22q12.2) / COL1A1 (17q21.33)NIPSNAP1 (22q12.2) / DOCK7 (1p31.3)NIPSNAP1 (22q12.2) / NIPSNAP1 (22q12.2)
OSBP2 (22q12.2) / NIPSNAP1 (22q12.2)THOC5 (22q12.2) / NIPSNAP1 (22q12.2)THOC5 22q12.2 / NIPSNAP1 22q12.2

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)NIPSNAP1   7827
Cards
Entrez_Gene (NCBI)NIPSNAP1  8508  nipsnap homolog 1
Aliases
GeneCards (Weizmann)NIPSNAP1
Ensembl hg19 (Hinxton)ENSG00000184117 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000184117 [Gene_View]  chr22:29554809-29581096 [Contig_View]  NIPSNAP1 [Vega]
ICGC DataPortalENSG00000184117
TCGA cBioPortalNIPSNAP1
AceView (NCBI)NIPSNAP1
Genatlas (Paris)NIPSNAP1
WikiGenes8508
SOURCE (Princeton)NIPSNAP1
Genetics Home Reference (NIH)NIPSNAP1
Genomic and cartography
GoldenPath hg38 (UCSC)NIPSNAP1  -     chr22:29554809-29581096 -  22q12.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NIPSNAP1  -     22q12.2   [Description]    (hg19-Feb_2009)
EnsemblNIPSNAP1 - 22q12.2 [CytoView hg19]  NIPSNAP1 - 22q12.2 [CytoView hg38]
Mapping of homologs : NCBINIPSNAP1 [Mapview hg19]  NIPSNAP1 [Mapview hg38]
OMIM603249   
Gene and transcription
Genbank (Entrez)AJ001258 AK098367 AK290953 AK298816 AK314407
RefSeq transcript (Entrez)NM_001202502 NM_003634
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NIPSNAP1
Cluster EST : UnigeneHs.173878 [ NCBI ]
CGAP (NCI)Hs.173878
Alternative Splicing GalleryENSG00000184117
Gene ExpressionNIPSNAP1 [ NCBI-GEO ]   NIPSNAP1 [ EBI - ARRAY_EXPRESS ]   NIPSNAP1 [ SEEK ]   NIPSNAP1 [ MEM ]
Gene Expression Viewer (FireBrowse)NIPSNAP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8508
GTEX Portal (Tissue expression)NIPSNAP1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BPW8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BPW8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BPW8
Splice isoforms : SwissVarQ9BPW8
PhosPhoSitePlusQ9BPW8
Domains : Interpro (EBI)Dimeric_a/b-barrel    NIPSNAP   
Domain families : Pfam (Sanger)NIPSNAP (PF07978)   
Domain families : Pfam (NCBI)pfam07978   
Conserved Domain (NCBI)NIPSNAP1
DMDM Disease mutations8508
Blocks (Seattle)NIPSNAP1
SuperfamilyQ9BPW8
Human Protein AtlasENSG00000184117
Peptide AtlasQ9BPW8
HPRD10342
IPIIPI00304435   IPI00894205   IPI00893815   IPI00894014   
Protein Interaction databases
DIP (DOE-UCLA)Q9BPW8
IntAct (EBI)Q9BPW8
FunCoupENSG00000184117
BioGRIDNIPSNAP1
STRING (EMBL)NIPSNAP1
ZODIACNIPSNAP1
Ontologies - Pathways
QuickGOQ9BPW8
Ontology : AmiGOprotein binding  mitochondrion  mitochondrion  mitochondrial inner membrane  sensory perception of pain  neurotransmitter binding  synaptic membrane  
Ontology : EGO-EBIprotein binding  mitochondrion  mitochondrion  mitochondrial inner membrane  sensory perception of pain  neurotransmitter binding  synaptic membrane  
NDEx NetworkNIPSNAP1
Atlas of Cancer Signalling NetworkNIPSNAP1
Wikipedia pathwaysNIPSNAP1
Orthology - Evolution
OrthoDB8508
GeneTree (enSembl)ENSG00000184117
Phylogenetic Trees/Animal Genes : TreeFamNIPSNAP1
HOVERGENQ9BPW8
HOGENOMQ9BPW8
Homologs : HomoloGeneNIPSNAP1
Homology/Alignments : Family Browser (UCSC)NIPSNAP1
Gene fusions - Rearrangements
Fusion : MitelmanTHOC5/NIPSNAP1 [22q12.2/22q12.2]  [t(22;22)(q12;q12)]  
Fusion: TCGATHOC5 22q12.2 NIPSNAP1 22q12.2 OV
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNIPSNAP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NIPSNAP1
dbVarNIPSNAP1
ClinVarNIPSNAP1
1000_GenomesNIPSNAP1 
Exome Variant ServerNIPSNAP1
ExAC (Exome Aggregation Consortium)NIPSNAP1 (select the gene name)
Genetic variants : HAPMAP8508
Genomic Variants (DGV)NIPSNAP1 [DGVbeta]
DECIPHERNIPSNAP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNIPSNAP1 
Mutations
ICGC Data PortalNIPSNAP1 
TCGA Data PortalNIPSNAP1 
Broad Tumor PortalNIPSNAP1
OASIS PortalNIPSNAP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNIPSNAP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNIPSNAP1
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 NIPSNAP1
DgiDB (Drug Gene Interaction Database)NIPSNAP1
DoCM (Curated mutations)NIPSNAP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NIPSNAP1 (select a term)
intoGenNIPSNAP1
Cancer3DNIPSNAP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603249   
Orphanet
MedgenNIPSNAP1
Genetic Testing Registry NIPSNAP1
NextProtQ9BPW8 [Medical]
TSGene8508
GENETestsNIPSNAP1
Target ValidationNIPSNAP1
Huge Navigator NIPSNAP1 [HugePedia]
snp3D : Map Gene to Disease8508
BioCentury BCIQNIPSNAP1
ClinGenNIPSNAP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8508
Chemical/Pharm GKB GenePA31634
Clinical trialNIPSNAP1
Miscellaneous
canSAR (ICR)NIPSNAP1 (select the gene name)
Probes
Litterature
PubMed34 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNIPSNAP1
EVEXNIPSNAP1
GoPubMedNIPSNAP1
iHOPNIPSNAP1
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 12:46:52 CEST 2017

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