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FIG4 (FIG4 phosphoinositide 5-phosphatase)

Identity

Alias_namesKIAA0274
KIAA0274
FIG4 homolog (S. cerevisiae)
FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)
Alias_symbol (synonym)SAC3
hSac3
dJ249I4.1
ALS11
CMT4J
Other aliasBTOP
YVS
HGNC (Hugo) FIG4
LocusID (NCBI) 9896
Atlas_Id 53747
Location 6q21  [Link to chromosome band 6q21]
Location_base_pair Starts at 109691221 and ends at 109825431 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)
FIG4 (6q21) / WASF1 (6q21)SEC63 (6q21) / FIG4 (6q21)ZNF292 (6q14.3) / FIG4 (6q21)
FIG4 6q21 / WASF1 6q21SEC63 6q21 / FIG4 6q21ZNF292 6q14.3 / FIG4 6q21

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) [ 1 ]
  t(6;6)(q14;q21) ZNF292/FIG4


External links

Nomenclature
HGNC (Hugo)FIG4   16873
LRG (Locus Reference Genomic)LRG_241
Cards
Entrez_Gene (NCBI)FIG4  9896  FIG4 phosphoinositide 5-phosphatase
AliasesALS11; BTOP; CMT4J; KIAA0274; 
SAC3; YVS; dJ249I4.1
GeneCards (Weizmann)FIG4
Ensembl hg19 (Hinxton)ENSG00000112367 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000112367 [Gene_View]  ENSG00000112367 [Sequence]  chr6:109691221-109825431 [Contig_View]  FIG4 [Vega]
ICGC DataPortalENSG00000112367
TCGA cBioPortalFIG4
AceView (NCBI)FIG4
Genatlas (Paris)FIG4
WikiGenes9896
SOURCE (Princeton)FIG4
Genetics Home Reference (NIH)FIG4
Genomic and cartography
GoldenPath hg38 (UCSC)FIG4  -     chr6:109691221-109825431 +  6q21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)FIG4  -     6q21   [Description]    (hg19-Feb_2009)
EnsemblFIG4 - 6q21 [CytoView hg19]  FIG4 - 6q21 [CytoView hg38]
Mapping of homologs : NCBIFIG4 [Mapview hg19]  FIG4 [Mapview hg38]
OMIM216340   609390   611228   612577   612691   
Gene and transcription
Genbank (Entrez)AA815086 AA946705 AI476769 AK222732 AK291671
RefSeq transcript (Entrez)NM_014845
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)FIG4
Cluster EST : UnigeneHs.529959 [ NCBI ]
CGAP (NCI)Hs.529959
Alternative Splicing GalleryENSG00000112367
Gene ExpressionFIG4 [ NCBI-GEO ]   FIG4 [ EBI - ARRAY_EXPRESS ]   FIG4 [ SEEK ]   FIG4 [ MEM ]
Gene Expression Viewer (FireBrowse)FIG4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9896
GTEX Portal (Tissue expression)FIG4
Human Protein AtlasENSG00000112367-FIG4 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92562   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ92562  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ92562
Splice isoforms : SwissVarQ92562
Catalytic activity : Enzyme3.1.3.- [ Enzyme-Expasy ]   3.1.3.-3.1.3.- [ IntEnz-EBI ]   3.1.3.- [ BRENDA ]   3.1.3.- [ KEGG ]   
PhosPhoSitePlusQ92562
Domaine pattern : Prosite (Expaxy)SAC (PS50275)   
Domains : Interpro (EBI)SAC_dom   
Domain families : Pfam (Sanger)Syja_N (PF02383)   
Domain families : Pfam (NCBI)pfam02383   
Conserved Domain (NCBI)FIG4
DMDM Disease mutations9896
Blocks (Seattle)FIG4
SuperfamilyQ92562
Human Protein Atlas [tissue]ENSG00000112367-FIG4 [tissue]
Peptide AtlasQ92562
HPRD11073
IPIIPI00022022   IPI00640096   IPI00552879   IPI00643795   IPI00643340   
Protein Interaction databases
DIP (DOE-UCLA)Q92562
IntAct (EBI)Q92562
FunCoupENSG00000112367
BioGRIDFIG4
STRING (EMBL)FIG4
ZODIACFIG4
Ontologies - Pathways
QuickGOQ92562
Ontology : AmiGOGolgi membrane  phosphatidylinositol-3-phosphatase activity  protein binding  endoplasmic reticulum  lipid droplet  phosphatidylinositol biosynthetic process  vacuole organization  locomotory behavior  endosome membrane  positive regulation of neuron projection development  dephosphorylation  negative regulation of myelination  early endosome membrane  late endosome membrane  myelin assembly  phosphatidylinositol-3-phosphate biosynthetic process  intracellular membrane-bounded organelle  pigmentation  phosphatidylinositol-4-phosphate phosphatase activity  phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity  neuron development  recycling endosome  
Ontology : EGO-EBIGolgi membrane  phosphatidylinositol-3-phosphatase activity  protein binding  endoplasmic reticulum  lipid droplet  phosphatidylinositol biosynthetic process  vacuole organization  locomotory behavior  endosome membrane  positive regulation of neuron projection development  dephosphorylation  negative regulation of myelination  early endosome membrane  late endosome membrane  myelin assembly  phosphatidylinositol-3-phosphate biosynthetic process  intracellular membrane-bounded organelle  pigmentation  phosphatidylinositol-4-phosphate phosphatase activity  phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity  neuron development  recycling endosome  
NDEx NetworkFIG4
Atlas of Cancer Signalling NetworkFIG4
Wikipedia pathwaysFIG4
Orthology - Evolution
OrthoDB9896
GeneTree (enSembl)ENSG00000112367
Phylogenetic Trees/Animal Genes : TreeFamFIG4
HOVERGENQ92562
HOGENOMQ92562
Homologs : HomoloGeneFIG4
Homology/Alignments : Family Browser (UCSC)FIG4
Gene fusions - Rearrangements
Fusion : MitelmanZNF292/FIG4 [6q14.3/6q21]  [t(6;6)(q14;q21)]  
Fusion PortalFIG4 6q21 WASF1 6q21 BRCA
Fusion PortalSEC63 6q21 FIG4 6q21 LAML
Fusion PortalZNF292 6q14.3 FIG4 6q21 BRCA
Fusion : QuiverFIG4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerFIG4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FIG4
dbVarFIG4
ClinVarFIG4
1000_GenomesFIG4 
Exome Variant ServerFIG4
ExAC (Exome Aggregation Consortium)ENSG00000112367
GNOMAD BrowserENSG00000112367
Varsome BrowserFIG4
Genetic variants : HAPMAP9896
Genomic Variants (DGV)FIG4 [DGVbeta]
DECIPHERFIG4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisFIG4 
Mutations
ICGC Data PortalFIG4 
TCGA Data PortalFIG4 
Broad Tumor PortalFIG4
OASIS PortalFIG4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICFIG4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDFIG4
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch FIG4
DgiDB (Drug Gene Interaction Database)FIG4
DoCM (Curated mutations)FIG4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)FIG4 (select a term)
intoGenFIG4
Cancer3DFIG4(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM216340    609390    611228    612577    612691   
Orphanet106    16913    3051    18604    10385   
DisGeNETFIG4
MedgenFIG4
Genetic Testing Registry FIG4
NextProtQ92562 [Medical]
TSGene9896
GENETestsFIG4
Target ValidationFIG4
Huge Navigator FIG4 [HugePedia]
snp3D : Map Gene to Disease9896
BioCentury BCIQFIG4
ClinGenFIG4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9896
Chemical/Pharm GKB GenePA162388528
Clinical trialFIG4
Miscellaneous
canSAR (ICR)FIG4 (select the gene name)
Probes
Litterature
PubMed37 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineFIG4
EVEXFIG4
GoPubMedFIG4
iHOPFIG4
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 Nov 6 11:06:40 CET 2018

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