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PFAS (phosphoribosylformylglycinamidine synthase)

Identity

Alias_symbol (synonym)PURL
FGARAT
KIAA0361
Other aliasFGAMS
FGAR-AT
GATD8
HGNC (Hugo) PFAS
LocusID (NCBI) 5198
Atlas_Id 71845
Location 17p13.1  [Link to chromosome band 17p13]
Location_base_pair Starts at 8249278 and ends at 8270491 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
AGBL5 (2p23.3) / PFAS (17p13.1)NKAIN1 (1p35.2) / PFAS (17p13.1)PFAS (17p13.1) / RNF141 (11p15.4)
STAT5B (17q21.2) / PFAS (17p13.1)NKAIN1 PFASSTAT5B PFAS

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)PFAS   8863
Cards
Entrez_Gene (NCBI)PFAS  5198  phosphoribosylformylglycinamidine synthase
AliasesFGAMS; FGAR-AT; FGARAT; GATD8; 
PURL
GeneCards (Weizmann)PFAS
Ensembl hg19 (Hinxton)ENSG00000178921 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000178921 [Gene_View]  chr17:8249278-8270491 [Contig_View]  PFAS [Vega]
ICGC DataPortalENSG00000178921
TCGA cBioPortalPFAS
AceView (NCBI)PFAS
Genatlas (Paris)PFAS
WikiGenes5198
SOURCE (Princeton)PFAS
Genetics Home Reference (NIH)PFAS
Genomic and cartography
GoldenPath hg38 (UCSC)PFAS  -     chr17:8249278-8270491 +  17p13.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PFAS  -     17p13.1   [Description]    (hg19-Feb_2009)
EnsemblPFAS - 17p13.1 [CytoView hg19]  PFAS - 17p13.1 [CytoView hg38]
Mapping of homologs : NCBIPFAS [Mapview hg19]  PFAS [Mapview hg38]
OMIM602133   
Gene and transcription
Genbank (Entrez)AB002359 AK292402 AK292804 AK295895 AL044326
RefSeq transcript (Entrez)NM_012393
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PFAS
Cluster EST : UnigeneHs.573976 [ NCBI ]
CGAP (NCI)Hs.573976
Alternative Splicing GalleryENSG00000178921
Gene ExpressionPFAS [ NCBI-GEO ]   PFAS [ EBI - ARRAY_EXPRESS ]   PFAS [ SEEK ]   PFAS [ MEM ]
Gene Expression Viewer (FireBrowse)PFAS [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5198
GTEX Portal (Tissue expression)PFAS
Protein : pattern, domain, 3D structure
UniProt/SwissProtO15067   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO15067  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO15067
Splice isoforms : SwissVarO15067
Catalytic activity : Enzyme6.3.5.3 [ Enzyme-Expasy ]   6.3.5.36.3.5.3 [ IntEnz-EBI ]   6.3.5.3 [ BRENDA ]   6.3.5.3 [ KEGG ]   
PhosPhoSitePlusO15067
Domaine pattern : Prosite (Expaxy)GATASE_TYPE_1 (PS51273)   
Domains : Interpro (EBI)AIR_synth_C_dom    Class_I_gatase-like    GATASE    PRibForGlyAmidine_synth    PurM-like_N   
Domain families : Pfam (Sanger)AIRS_C (PF02769)   
Domain families : Pfam (NCBI)pfam02769   
Conserved Domain (NCBI)PFAS
DMDM Disease mutations5198
Blocks (Seattle)PFAS
SuperfamilyO15067
Human Protein AtlasENSG00000178921
Peptide AtlasO15067
HPRD09072
IPIIPI00004534   IPI01012022   IPI01013426   
Protein Interaction databases
DIP (DOE-UCLA)O15067
IntAct (EBI)O15067
FunCoupENSG00000178921
BioGRIDPFAS
STRING (EMBL)PFAS
ZODIACPFAS
Ontologies - Pathways
QuickGOO15067
Ontology : AmiGOphosphoribosylformylglycinamidine synthase activity  phosphoribosylformylglycinamidine synthase activity  ATP binding  cytosol  'de novo' IMP biosynthetic process  'de novo' IMP biosynthetic process  glutamine metabolic process  purine ribonucleoside monophosphate biosynthetic process  response to drug  metal ion binding  extracellular exosome  
Ontology : EGO-EBIphosphoribosylformylglycinamidine synthase activity  phosphoribosylformylglycinamidine synthase activity  ATP binding  cytosol  'de novo' IMP biosynthetic process  'de novo' IMP biosynthetic process  glutamine metabolic process  purine ribonucleoside monophosphate biosynthetic process  response to drug  metal ion binding  extracellular exosome  
Pathways : KEGGPurine metabolism   
NDEx NetworkPFAS
Atlas of Cancer Signalling NetworkPFAS
Wikipedia pathwaysPFAS
Orthology - Evolution
OrthoDB5198
GeneTree (enSembl)ENSG00000178921
Phylogenetic Trees/Animal Genes : TreeFamPFAS
HOVERGENO15067
HOGENOMO15067
Homologs : HomoloGenePFAS
Homology/Alignments : Family Browser (UCSC)PFAS
Gene fusions - Rearrangements
Fusion: TCGANKAIN1 PFAS
Fusion: TCGASTAT5B PFAS
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPFAS [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PFAS
dbVarPFAS
ClinVarPFAS
1000_GenomesPFAS 
Exome Variant ServerPFAS
ExAC (Exome Aggregation Consortium)PFAS (select the gene name)
Genetic variants : HAPMAP5198
Genomic Variants (DGV)PFAS [DGVbeta]
DECIPHERPFAS [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPFAS 
Mutations
ICGC Data PortalPFAS 
TCGA Data PortalPFAS 
Broad Tumor PortalPFAS
OASIS PortalPFAS [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPFAS  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPFAS
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 PFAS
DgiDB (Drug Gene Interaction Database)PFAS
DoCM (Curated mutations)PFAS (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PFAS (select a term)
intoGenPFAS
Cancer3DPFAS(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602133   
Orphanet
MedgenPFAS
Genetic Testing Registry PFAS
NextProtO15067 [Medical]
TSGene5198
GENETestsPFAS
Target ValidationPFAS
Huge Navigator PFAS [HugePedia]
snp3D : Map Gene to Disease5198
BioCentury BCIQPFAS
ClinGenPFAS
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5198
Chemical/Pharm GKB GenePA33205
Clinical trialPFAS
Miscellaneous
canSAR (ICR)PFAS (select the gene name)
Probes
Litterature
PubMed23 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePFAS
EVEXPFAS
GoPubMedPFAS
iHOPPFAS
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 16:35:45 CEST 2017

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