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FBLIM1 (filamin binding LIM protein 1)

Identity

Alias_symbol (synonym)FBLP-1
CAL
migfilin
Other aliasFBLP1
HGNC (Hugo) FBLIM1
LocusID (NCBI) 54751
Atlas_Id 49967
Location 1p36.21  [Link to chromosome band 1p36]
Location_base_pair Starts at 15764499 and ends at 15775220 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)
ESPN (1p36.31) / FBLIM1 (1p36.21)FBLIM1 (1p36.21) / AKIP1 (11p15.4)SPEN (1p36.21) / FBLIM1 (1p36.21)
TIAM1 (21q22.11) / FBLIM1 (1p36.21)TRRAP (7q22.1) / FBLIM1 (1p36.21)ESPN 1p36.31 / FBLIM1 1p36.21
SPEN 1p36.21 / FBLIM1 1p36.21TIAM1 21q22.11 / FBLIM1 1p36.21

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)FBLIM1   24686
Cards
Entrez_Gene (NCBI)FBLIM1  54751  filamin binding LIM protein 1
AliasesCAL; FBLP-1; FBLP1
GeneCards (Weizmann)FBLIM1
Ensembl hg19 (Hinxton)ENSG00000162458 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000162458 [Gene_View]  chr1:15764499-15775220 [Contig_View]  FBLIM1 [Vega]
ICGC DataPortalENSG00000162458
TCGA cBioPortalFBLIM1
AceView (NCBI)FBLIM1
Genatlas (Paris)FBLIM1
WikiGenes54751
SOURCE (Princeton)FBLIM1
Genetics Home Reference (NIH)FBLIM1
Genomic and cartography
GoldenPath hg38 (UCSC)FBLIM1  -     chr1:15764499-15775220 +  1p36.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)FBLIM1  -     1p36.21   [Description]    (hg19-Feb_2009)
EnsemblFBLIM1 - 1p36.21 [CytoView hg19]  FBLIM1 - 1p36.21 [CytoView hg38]
Mapping of homologs : NCBIFBLIM1 [Mapview hg19]  FBLIM1 [Mapview hg38]
OMIM607747   
Gene and transcription
Genbank (Entrez)AF459643 AK027444 AK055259 AL133035 AW069718
RefSeq transcript (Entrez)NM_001024215 NM_001024216 NM_001350151 NM_017556
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)FBLIM1
Cluster EST : UnigeneHs.530101 [ NCBI ]
CGAP (NCI)Hs.530101
Alternative Splicing GalleryENSG00000162458
Gene ExpressionFBLIM1 [ NCBI-GEO ]   FBLIM1 [ EBI - ARRAY_EXPRESS ]   FBLIM1 [ SEEK ]   FBLIM1 [ MEM ]
Gene Expression Viewer (FireBrowse)FBLIM1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)54751
GTEX Portal (Tissue expression)FBLIM1
Human Protein AtlasENSG00000162458-FBLIM1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8WUP2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8WUP2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8WUP2
Splice isoforms : SwissVarQ8WUP2
PhosPhoSitePlusQ8WUP2
Domaine pattern : Prosite (Expaxy)LIM_DOMAIN_1 (PS00478)    LIM_DOMAIN_2 (PS50023)   
Domains : Interpro (EBI)Znf_LIM   
Domain families : Pfam (Sanger)LIM (PF00412)   
Domain families : Pfam (NCBI)pfam00412   
Domain families : Smart (EMBL)LIM (SM00132)  
Conserved Domain (NCBI)FBLIM1
DMDM Disease mutations54751
Blocks (Seattle)FBLIM1
PDB (SRS)2K9U    2W0P    4P3W   
PDB (PDBSum)2K9U    2W0P    4P3W   
PDB (IMB)2K9U    2W0P    4P3W   
PDB (RSDB)2K9U    2W0P    4P3W   
Structural Biology KnowledgeBase2K9U    2W0P    4P3W   
SCOP (Structural Classification of Proteins)2K9U    2W0P    4P3W   
CATH (Classification of proteins structures)2K9U    2W0P    4P3W   
SuperfamilyQ8WUP2
Human Protein Atlas [tissue]ENSG00000162458-FBLIM1 [tissue]
Peptide AtlasQ8WUP2
HPRD09669
IPIIPI00291238   IPI00386562   IPI00290638   IPI00646795   IPI00647013   IPI00967436   IPI01011297   IPI00966343   IPI00965219   IPI00967161   IPI00966921   IPI00967703   
Protein Interaction databases
DIP (DOE-UCLA)Q8WUP2
IntAct (EBI)Q8WUP2
FunCoupENSG00000162458
BioGRIDFBLIM1
STRING (EMBL)FBLIM1
ZODIACFBLIM1
Ontologies - Pathways
QuickGOQ8WUP2
Ontology : AmiGOfibrillar center  stress fiber  protein binding  cytosol  focal adhesion  cell cortex  zinc ion binding  regulation of cell shape  single organismal cell-cell adhesion  cell junction  filamin binding  regulation of integrin activation  cell junction assembly  
Ontology : EGO-EBIfibrillar center  stress fiber  protein binding  cytosol  focal adhesion  cell cortex  zinc ion binding  regulation of cell shape  single organismal cell-cell adhesion  cell junction  filamin binding  regulation of integrin activation  cell junction assembly  
NDEx NetworkFBLIM1
Atlas of Cancer Signalling NetworkFBLIM1
Wikipedia pathwaysFBLIM1
Orthology - Evolution
OrthoDB54751
GeneTree (enSembl)ENSG00000162458
Phylogenetic Trees/Animal Genes : TreeFamFBLIM1
HOVERGENQ8WUP2
HOGENOMQ8WUP2
Homologs : HomoloGeneFBLIM1
Homology/Alignments : Family Browser (UCSC)FBLIM1
Gene fusions - Rearrangements
Fusion : MitelmanESPN/FBLIM1 [1p36.31/1p36.21]  [t(1;1)(p36;p36)]  
Fusion : MitelmanSPEN/FBLIM1 [1p36.21/1p36.21]  [t(1;1)(p36;p36)]  
Fusion : MitelmanTIAM1/FBLIM1 [21q22.11/1p36.21]  [t(1;21)(p36;q22)]  
Fusion: TCGA_MDACCESPN 1p36.31 FBLIM1 1p36.21 HNSC
Fusion: TCGA_MDACCSPEN 1p36.21 FBLIM1 1p36.21 BLCA
Fusion: TCGA_MDACCTIAM1 21q22.11 FBLIM1 1p36.21 BRCA
Tumor Fusion PortalFBLIM1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerFBLIM1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FBLIM1
dbVarFBLIM1
ClinVarFBLIM1
1000_GenomesFBLIM1 
Exome Variant ServerFBLIM1
ExAC (Exome Aggregation Consortium)ENSG00000162458
GNOMAD BrowserENSG00000162458
Genetic variants : HAPMAP54751
Genomic Variants (DGV)FBLIM1 [DGVbeta]
DECIPHERFBLIM1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisFBLIM1 
Mutations
ICGC Data PortalFBLIM1 
TCGA Data PortalFBLIM1 
Broad Tumor PortalFBLIM1
OASIS PortalFBLIM1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICFBLIM1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDFBLIM1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch FBLIM1
DgiDB (Drug Gene Interaction Database)FBLIM1
DoCM (Curated mutations)FBLIM1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)FBLIM1 (select a term)
intoGenFBLIM1
Cancer3DFBLIM1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607747   
Orphanet
DisGeNETFBLIM1
MedgenFBLIM1
Genetic Testing Registry FBLIM1
NextProtQ8WUP2 [Medical]
TSGene54751
GENETestsFBLIM1
Target ValidationFBLIM1
Huge Navigator FBLIM1 [HugePedia]
snp3D : Map Gene to Disease54751
BioCentury BCIQFBLIM1
ClinGenFBLIM1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD54751
Chemical/Pharm GKB GenePA142671776
Clinical trialFBLIM1
Miscellaneous
canSAR (ICR)FBLIM1 (select the gene name)
Probes
Litterature
PubMed33 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineFBLIM1
EVEXFBLIM1
GoPubMedFBLIM1
iHOPFBLIM1
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 21 14:12:55 CET 2017

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