Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SYNJ1 (synaptojanin 1)

Identity

Alias_symbol (synonym)INPP5G
PARK20
Other alias
HGNC (Hugo) SYNJ1
LocusID (NCBI) 8867
Atlas_Id 43521
Location 21q22.11  [Link to chromosome band 21q22]
Location_base_pair Starts at 34001069 and ends at 34100250 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
PDXK (21q22.3) / SYNJ1 (21q22.11)SYNJ1 (21q22.11) / C21orf62 (21q22.11)SYNJ1 (21q22.11) / PDE9A (21q22.3)
SYNJ1 (21q22.11) / PDXK (21q22.3)SYNJ1 (21q22.11) / SYNJ1 (21q22.11)SYNJ1 21q22.11 / C21orf62 21q22.11
SYNJ1 21q22.11 / PDE9A 21q22.3

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

 


External links

Nomenclature
HGNC (Hugo)SYNJ1   11503
Cards
Entrez_Gene (NCBI)SYNJ1  8867  synaptojanin 1
AliasesINPP5G; PARK20
GeneCards (Weizmann)SYNJ1
Ensembl hg19 (Hinxton)ENSG00000159082 [Gene_View]  chr21:34001069-34100250 [Contig_View]  SYNJ1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000159082 [Gene_View]  chr21:34001069-34100250 [Contig_View]  SYNJ1 [Vega]
ICGC DataPortalENSG00000159082
TCGA cBioPortalSYNJ1
AceView (NCBI)SYNJ1
Genatlas (Paris)SYNJ1
WikiGenes8867
SOURCE (Princeton)SYNJ1
Genetics Home Reference (NIH)SYNJ1
Genomic and cartography
GoldenPath hg19 (UCSC)SYNJ1  -     chr21:34001069-34100250 -  21q22.11   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SYNJ1  -     21q22.11   [Description]    (hg38-Dec_2013)
EnsemblSYNJ1 - 21q22.11 [CytoView hg19]  SYNJ1 - 21q22.11 [CytoView hg38]
Mapping of homologs : NCBISYNJ1 [Mapview hg19]  SYNJ1 [Mapview hg38]
OMIM604297   615530   
Gene and transcription
Genbank (Entrez)AB020717 AF009039 AF009040 AK295706 AK304044
RefSeq transcript (Entrez)NM_001160302 NM_001160306 NM_003895 NM_203446
RefSeq genomic (Entrez)NC_000021 NC_018932 NG_030017 NT_011512 NW_004929426
Consensus coding sequences : CCDS (NCBI)SYNJ1
Cluster EST : UnigeneHs.473632 [ NCBI ]
CGAP (NCI)Hs.473632
Alternative Splicing GalleryENSG00000159082
Gene ExpressionSYNJ1 [ NCBI-GEO ]   SYNJ1 [ EBI - ARRAY_EXPRESS ]   SYNJ1 [ SEEK ]   SYNJ1 [ MEM ]
Gene Expression Viewer (FireBrowse)SYNJ1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8867
GTEX Portal (Tissue expression)SYNJ1
Protein : pattern, domain, 3D structure
UniProt/SwissProtO43426   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO43426  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO43426
Splice isoforms : SwissVarO43426
Catalytic activity : Enzyme3.1.3.36 [ Enzyme-Expasy ]   3.1.3.363.1.3.36 [ IntEnz-EBI ]   3.1.3.36 [ BRENDA ]   3.1.3.36 [ KEGG ]   
PhosPhoSitePlusO43426
Domaine pattern : Prosite (Expaxy)RRM (PS50102)    SAC (PS50275)   
Domains : Interpro (EBI)DUF1866    Endo/exonuclease/phosphatase    IPPc    Nucleotide-bd_a/b_plait    RRM_dom    SAC_dom   
Domain families : Pfam (Sanger)DUF1866 (PF08952)    Exo_endo_phos (PF03372)    Syja_N (PF02383)   
Domain families : Pfam (NCBI)pfam08952    pfam03372    pfam02383   
Domain families : Smart (EMBL)IPPc (SM00128)  
Conserved Domain (NCBI)SYNJ1
DMDM Disease mutations8867
Blocks (Seattle)SYNJ1
PDB (SRS)1W80    2DNR    2VJ0   
PDB (PDBSum)1W80    2DNR    2VJ0   
PDB (IMB)1W80    2DNR    2VJ0   
PDB (RSDB)1W80    2DNR    2VJ0   
Structural Biology KnowledgeBase1W80    2DNR    2VJ0   
SCOP (Structural Classification of Proteins)1W80    2DNR    2VJ0   
CATH (Classification of proteins structures)1W80    2DNR    2VJ0   
SuperfamilyO43426
Human Protein AtlasENSG00000159082
Peptide AtlasO43426
HPRD09182
IPIIPI00012441   IPI00333134   IPI00386631   IPI00658095   IPI00945835   IPI00657978   IPI00956287   IPI00925533   IPI00917393   IPI00916924   
Protein Interaction databases
DIP (DOE-UCLA)O43426
IntAct (EBI)O43426
FunCoupENSG00000159082
BioGRIDSYNJ1
STRING (EMBL)SYNJ1
ZODIACSYNJ1
Ontologies - Pathways
QuickGOO43426
Ontology : AmiGOnucleotide binding  RNA binding  phosphatidylinositol-3-phosphatase activity  phosphatidylinositol-3-phosphatase activity  phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity  phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity  phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity  phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity  inositol-polyphosphate 5-phosphatase activity  cytosol  microtubule  phosphatidylinositol biosynthetic process  phosphate-containing compound metabolic process  neurotransmitter transport  learning  synaptic vesicle priming  synaptic vesicle uncoating  membrane coat  clathrin coat of coated pit  phosphatidylinositol phosphate 5-phosphatase activity  phosphatidylinositol phosphate 4-phosphatase activity  phosphatidylinositol-3-phosphate biosynthetic process  inositol phosphate metabolic process  phosphatidylinositol-4-phosphate phosphatase activity  phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity  phosphatidylinositol metabolic process  inositol phosphate dephosphorylation  phosphatidylinositol dephosphorylation  phosphatidylinositol dephosphorylation  phosphatidylinositol dephosphorylation  synaptic vesicle endocytosis  synaptic vesicle endocytosis  synaptic vesicle transport  phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity  inositol-1,4,5-trisphosphate 5-phosphatase activity  inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity  synaptic membrane  presynapse  regulation of synaptic vesicle membrane organization  positive regulation of synaptic vesicle uncoating  positive regulation of endosome organization  
Ontology : EGO-EBInucleotide binding  RNA binding  phosphatidylinositol-3-phosphatase activity  phosphatidylinositol-3-phosphatase activity  phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity  phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity  phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity  phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity  inositol-polyphosphate 5-phosphatase activity  cytosol  microtubule  phosphatidylinositol biosynthetic process  phosphate-containing compound metabolic process  neurotransmitter transport  learning  synaptic vesicle priming  synaptic vesicle uncoating  membrane coat  clathrin coat of coated pit  phosphatidylinositol phosphate 5-phosphatase activity  phosphatidylinositol phosphate 4-phosphatase activity  phosphatidylinositol-3-phosphate biosynthetic process  inositol phosphate metabolic process  phosphatidylinositol-4-phosphate phosphatase activity  phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity  phosphatidylinositol metabolic process  inositol phosphate dephosphorylation  phosphatidylinositol dephosphorylation  phosphatidylinositol dephosphorylation  phosphatidylinositol dephosphorylation  synaptic vesicle endocytosis  synaptic vesicle endocytosis  synaptic vesicle transport  phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity  inositol-1,4,5-trisphosphate 5-phosphatase activity  inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity  synaptic membrane  presynapse  regulation of synaptic vesicle membrane organization  positive regulation of synaptic vesicle uncoating  positive regulation of endosome organization  
Pathways : BIOCARTAEndocytotic role of NDK, Phosphins and Dynamin [Genes]   
Pathways : KEGGInositol phosphate metabolism    Phosphatidylinositol signaling system   
NDEx NetworkSYNJ1
Atlas of Cancer Signalling NetworkSYNJ1
Wikipedia pathwaysSYNJ1
Orthology - Evolution
OrthoDB8867
GeneTree (enSembl)ENSG00000159082
Phylogenetic Trees/Animal Genes : TreeFamSYNJ1
HOVERGENO43426
HOGENOMO43426
Homologs : HomoloGeneSYNJ1
Homology/Alignments : Family Browser (UCSC)SYNJ1
Gene fusions - Rearrangements
Fusion : MitelmanSYNJ1/C21orf62 [21q22.11/21q22.11]  
Fusion : MitelmanSYNJ1/PDE9A [21q22.11/21q22.3]  [t(21;21)(q22;q22)]  
Fusion: TCGASYNJ1 21q22.11 C21orf62 21q22.11 BRCA
Fusion: TCGASYNJ1 21q22.11 PDE9A 21q22.3 LGG
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSYNJ1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SYNJ1
dbVarSYNJ1
ClinVarSYNJ1
1000_GenomesSYNJ1 
Exome Variant ServerSYNJ1
ExAC (Exome Aggregation Consortium)SYNJ1 (select the gene name)
Genetic variants : HAPMAP8867
Genomic Variants (DGV)SYNJ1 [DGVbeta]
DECIPHER (Syndromes)21:34001069-34100250  ENSG00000159082
CONAN: Copy Number AnalysisSYNJ1 
Mutations
ICGC Data PortalSYNJ1 
TCGA Data PortalSYNJ1 
Broad Tumor PortalSYNJ1
OASIS PortalSYNJ1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSYNJ1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSYNJ1
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 SYNJ1
DgiDB (Drug Gene Interaction Database)SYNJ1
DoCM (Curated mutations)SYNJ1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SYNJ1 (select a term)
intoGenSYNJ1
Cancer3DSYNJ1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604297    615530   
Orphanet22620   
MedgenSYNJ1
Genetic Testing Registry SYNJ1
NextProtO43426 [Medical]
TSGene8867
GENETestsSYNJ1
Huge Navigator SYNJ1 [HugePedia]
snp3D : Map Gene to Disease8867
BioCentury BCIQSYNJ1
ClinGenSYNJ1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8867
Chemical/Pharm GKB GenePA36285
Clinical trialSYNJ1
Miscellaneous
canSAR (ICR)SYNJ1 (select the gene name)
Probes
Litterature
PubMed51 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSYNJ1
EVEXSYNJ1
GoPubMedSYNJ1
iHOPSYNJ1
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 : Tue Mar 14 13:30:04 CET 2017

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