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AFAP1 (actin filament associated protein 1)

Identity

Alias_symbol (synonym)AFAP-110
AFAP
Other aliasAFAP110
HGNC (Hugo) AFAP1
LocusID (NCBI) 60312
Atlas_Id 49918
Location 4p16.1  [Link to chromosome band 4p16]
Location_base_pair Starts at 7760440 and ends at 7941653 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
AFAP1 (4p16.1) / ABLIM2 (4p16.1)AFAP1 (4p16.1) / KAT6B (10q22.2)AFAP1 (4p16.1) / NTRK2 (9q21.33)
AFAP1 (4p16.1) / RET (10q11.21)AFAP1 (4p16.1) / SIN3A (15q24.2)AFAP1 (4p16.1) / SLC45A1 (1p36.23)
AFAP1 4p16.1 / ABLIM2 4p16.1AFAP1 4p16.1 / NTRK2 9q21.33AFAP1 4p16.1 / SLC45A1 1p36.23

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)AFAP1   24017
Cards
Entrez_Gene (NCBI)AFAP1  60312  actin filament associated protein 1
AliasesAFAP; AFAP-110; AFAP110
GeneCards (Weizmann)AFAP1
Ensembl hg19 (Hinxton)ENSG00000196526 [Gene_View]  chr4:7760440-7941653 [Contig_View]  AFAP1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000196526 [Gene_View]  chr4:7760440-7941653 [Contig_View]  AFAP1 [Vega]
ICGC DataPortalENSG00000196526
TCGA cBioPortalAFAP1
AceView (NCBI)AFAP1
Genatlas (Paris)AFAP1
WikiGenes60312
SOURCE (Princeton)AFAP1
Genetics Home Reference (NIH)AFAP1
Genomic and cartography
GoldenPath hg19 (UCSC)AFAP1  -     chr4:7760440-7941653 -  4p16.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)AFAP1  -     4p16.1   [Description]    (hg38-Dec_2013)
EnsemblAFAP1 - 4p16.1 [CytoView hg19]  AFAP1 - 4p16.1 [CytoView hg38]
Mapping of homologs : NCBIAFAP1 [Mapview hg19]  AFAP1 [Mapview hg38]
OMIM608252   
Gene and transcription
Genbank (Entrez)AB209676 AF188700 AK127962 AK290807 AK297631
RefSeq transcript (Entrez)NM_001134647 NM_021638 NM_198595
RefSeq genomic (Entrez)NC_000004 NC_018915 NT_006051 NW_004929314
Consensus coding sequences : CCDS (NCBI)AFAP1
Cluster EST : UnigeneHs.529369 [ NCBI ]
CGAP (NCI)Hs.529369
Alternative Splicing GalleryENSG00000196526
Gene ExpressionAFAP1 [ NCBI-GEO ]   AFAP1 [ EBI - ARRAY_EXPRESS ]   AFAP1 [ SEEK ]   AFAP1 [ MEM ]
Gene Expression Viewer (FireBrowse)AFAP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)60312
GTEX Portal (Tissue expression)AFAP1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N556   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N556  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N556
Splice isoforms : SwissVarQ8N556
PhosPhoSitePlusQ8N556
Domaine pattern : Prosite (Expaxy)PH_DOMAIN (PS50003)   
Domains : Interpro (EBI)AFAP    AFAP-110    PH_dom-like    PH_domain   
Domain families : Pfam (Sanger)PH (PF00169)   
Domain families : Pfam (NCBI)pfam00169   
Domain families : Smart (EMBL)PH (SM00233)  
Conserved Domain (NCBI)AFAP1
DMDM Disease mutations60312
Blocks (Seattle)AFAP1
SuperfamilyQ8N556
Human Protein AtlasENSG00000196526
Peptide AtlasQ8N556
HPRD09747
IPIIPI00398154   IPI00444138   IPI00910135   
Protein Interaction databases
DIP (DOE-UCLA)Q8N556
IntAct (EBI)Q8N556
FunCoupENSG00000196526
BioGRIDAFAP1
STRING (EMBL)AFAP1
ZODIACAFAP1
Ontologies - Pathways
QuickGOQ8N556
Ontology : AmiGOactin binding  cytoplasm  cytoskeleton  focal adhesion  regulation of signal transduction  regulation of cytoskeleton organization  
Ontology : EGO-EBIactin binding  cytoplasm  cytoskeleton  focal adhesion  regulation of signal transduction  regulation of cytoskeleton organization  
NDEx NetworkAFAP1
Atlas of Cancer Signalling NetworkAFAP1
Wikipedia pathwaysAFAP1
Orthology - Evolution
OrthoDB60312
GeneTree (enSembl)ENSG00000196526
Phylogenetic Trees/Animal Genes : TreeFamAFAP1
HOVERGENQ8N556
HOGENOMQ8N556
Homologs : HomoloGeneAFAP1
Homology/Alignments : Family Browser (UCSC)AFAP1
Gene fusions - Rearrangements
Fusion : MitelmanAFAP1/ABLIM2 [4p16.1/4p16.1]  
Fusion : MitelmanAFAP1/KAT6B [4p16.1/10q22.2]  [t(4;10)(p16;q22)]  
Fusion : MitelmanAFAP1/NTRK2 [4p16.1/9q21.33]  [t(4;9)(p16;q21)]  
Fusion : MitelmanAFAP1/SLC45A1 [4p16.1/1p36.23]  [t(1;4)(p36;p16)]  
Fusion: TCGAAFAP1 4p16.1 ABLIM2 4p16.1 BRCA
Fusion: TCGAAFAP1 4p16.1 NTRK2 9q21.33 LGG
Fusion: TCGAAFAP1 4p16.1 SLC45A1 1p36.23 LUSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAFAP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AFAP1
dbVarAFAP1
ClinVarAFAP1
1000_GenomesAFAP1 
Exome Variant ServerAFAP1
ExAC (Exome Aggregation Consortium)AFAP1 (select the gene name)
Genetic variants : HAPMAP60312
Genomic Variants (DGV)AFAP1 [DGVbeta]
DECIPHER (Syndromes)4:7760440-7941653  ENSG00000196526
CONAN: Copy Number AnalysisAFAP1 
Mutations
ICGC Data PortalAFAP1 
TCGA Data PortalAFAP1 
Broad Tumor PortalAFAP1
OASIS PortalAFAP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAFAP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAFAP1
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 AFAP1
DgiDB (Drug Gene Interaction Database)AFAP1
DoCM (Curated mutations)AFAP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AFAP1 (select a term)
intoGenAFAP1
Cancer3DAFAP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608252   
Orphanet
MedgenAFAP1
Genetic Testing Registry AFAP1
NextProtQ8N556 [Medical]
TSGene60312
GENETestsAFAP1
Huge Navigator AFAP1 [HugePedia]
snp3D : Map Gene to Disease60312
BioCentury BCIQAFAP1
ClinGenAFAP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD60312
Chemical/Pharm GKB GenePA162375733
Clinical trialAFAP1
Miscellaneous
canSAR (ICR)AFAP1 (select the gene name)
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAFAP1
EVEXAFAP1
GoPubMedAFAP1
iHOPAFAP1
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 12:55:10 CET 2017

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