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FAM13A (family with sequence similarity 13 member A)

Identity

Alias_namesFAM13A1
family with sequence similarity 13, member A1
family with sequence similarity 13, member A
Alias_symbol (synonym)KIAA0914
ARHGAP48
Other alias
HGNC (Hugo) FAM13A
LocusID (NCBI) 10144
Atlas_Id 55980
Location 4q22.1  [Link to chromosome band 4q22]
Location_base_pair Starts at 89647105 and ends at 89744512 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
BEX4 (Xq22.1) / FAM13A (4q22.1)FAM13A (4q22.1) / CRLF3 (17q11.2)FAM13A (4q22.1) / IGF1R (15q26.3)
MAPK10 (4q21.3) / FAM13A (4q22.1)SGPP2 (2q36.1) / FAM13A (4q22.1)

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)FAM13A   19367
Cards
Entrez_Gene (NCBI)FAM13A  10144  family with sequence similarity 13 member A
AliasesARHGAP48; FAM13A1
GeneCards (Weizmann)FAM13A
Ensembl hg19 (Hinxton)ENSG00000138640 [Gene_View]  chr4:89647105-89744512 [Contig_View]  FAM13A [Vega]
Ensembl hg38 (Hinxton)ENSG00000138640 [Gene_View]  chr4:89647105-89744512 [Contig_View]  FAM13A [Vega]
ICGC DataPortalENSG00000138640
TCGA cBioPortalFAM13A
AceView (NCBI)FAM13A
Genatlas (Paris)FAM13A
WikiGenes10144
SOURCE (Princeton)FAM13A
Genetics Home Reference (NIH)FAM13A
Genomic and cartography
GoldenPath hg19 (UCSC)FAM13A  -     chr4:89647105-89744512 -  4q22.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)FAM13A  -     4q22.1   [Description]    (hg38-Dec_2013)
EnsemblFAM13A - 4q22.1 [CytoView hg19]  FAM13A - 4q22.1 [CytoView hg38]
Mapping of homologs : NCBIFAM13A [Mapview hg19]  FAM13A [Mapview hg38]
OMIM613299   
Gene and transcription
Genbank (Entrez)-
RefSeq transcript (Entrez)NM_001015045 NM_001265578 NM_001265579 NM_001265580 NM_014883
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)FAM13A
Cluster EST : UnigeneHs.714536 [ NCBI ]
CGAP (NCI)Hs.714536
Alternative Splicing GalleryENSG00000138640
Gene ExpressionFAM13A [ NCBI-GEO ]   FAM13A [ EBI - ARRAY_EXPRESS ]   FAM13A [ SEEK ]   FAM13A [ MEM ]
Gene Expression Viewer (FireBrowse)FAM13A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10144
GTEX Portal (Tissue expression)FAM13A
Protein : pattern, domain, 3D structure
UniProt/SwissProtO94988   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO94988  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO94988
Splice isoforms : SwissVarO94988
PhosPhoSitePlusO94988
Domaine pattern : Prosite (Expaxy)RHOGAP (PS50238)   
Domains : Interpro (EBI)Rho_GTPase_activation_prot    RhoGAP_dom   
Domain families : Pfam (Sanger)RhoGAP (PF00620)   
Domain families : Pfam (NCBI)pfam00620   
Domain families : Smart (EMBL)RhoGAP (SM00324)  
Conserved Domain (NCBI)FAM13A
DMDM Disease mutations10144
Blocks (Seattle)FAM13A
SuperfamilyO94988
Human Protein AtlasENSG00000138640
Peptide AtlasO94988
HPRD10944
IPIIPI00555975   IPI00966001   IPI00006680   IPI00964911   IPI00965848   IPI00964627   IPI00965709   IPI00965355   IPI00966704   IPI00963909   IPI00966939   IPI00966389   
Protein Interaction databases
DIP (DOE-UCLA)O94988
IntAct (EBI)O94988
FunCoupENSG00000138640
BioGRIDFAM13A
STRING (EMBL)FAM13A
ZODIACFAM13A
Ontologies - Pathways
QuickGOO94988
Ontology : AmiGOGTPase activator activity  cytosol  signal transduction  positive regulation of GTPase activity  regulation of small GTPase mediated signal transduction  
Ontology : EGO-EBIGTPase activator activity  cytosol  signal transduction  positive regulation of GTPase activity  regulation of small GTPase mediated signal transduction  
NDEx NetworkFAM13A
Atlas of Cancer Signalling NetworkFAM13A
Wikipedia pathwaysFAM13A
Orthology - Evolution
OrthoDB10144
GeneTree (enSembl)ENSG00000138640
Phylogenetic Trees/Animal Genes : TreeFamFAM13A
HOVERGENO94988
HOGENOMO94988
Homologs : HomoloGeneFAM13A
Homology/Alignments : Family Browser (UCSC)FAM13A
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerFAM13A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FAM13A
dbVarFAM13A
ClinVarFAM13A
1000_GenomesFAM13A 
Exome Variant ServerFAM13A
ExAC (Exome Aggregation Consortium)FAM13A (select the gene name)
Genetic variants : HAPMAP10144
Genomic Variants (DGV)FAM13A [DGVbeta]
DECIPHER (Syndromes)4:89647105-89744512  ENSG00000138640
CONAN: Copy Number AnalysisFAM13A 
Mutations
ICGC Data PortalFAM13A 
TCGA Data PortalFAM13A 
Broad Tumor PortalFAM13A
OASIS PortalFAM13A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICFAM13A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDFAM13A
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 FAM13A
DgiDB (Drug Gene Interaction Database)FAM13A
DoCM (Curated mutations)FAM13A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)FAM13A (select a term)
intoGenFAM13A
Cancer3DFAM13A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM613299   
Orphanet7029   
MedgenFAM13A
Genetic Testing Registry FAM13A
NextProtO94988 [Medical]
TSGene10144
GENETestsFAM13A
Huge Navigator FAM13A [HugePedia]
snp3D : Map Gene to Disease10144
BioCentury BCIQFAM13A
ClinGenFAM13A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10144
Chemical/Pharm GKB GenePA164719541
Clinical trialFAM13A
Miscellaneous
canSAR (ICR)FAM13A (select the gene name)
Probes
Litterature
PubMed34 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineFAM13A
EVEXFAM13A
GoPubMedFAM13A
iHOPFAM13A
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 13:05:23 CET 2017

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