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BFSP1 (beaded filament structural protein 1)

Identity

Alias_namesbeaded filament structural protein 1, filensin
Alias_symbol (synonym)CP94
CP115
LIFL-H
filensin
Other aliasCTRCT33
HGNC (Hugo) BFSP1
LocusID (NCBI) 631
Atlas_Id 60746
Location 20p12.1  [Link to chromosome band 20p12]
Location_base_pair Starts at 17493905 and ends at 17558960 bp from pter ( according to hg38-Dec_2013)

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)BFSP1   1040
Cards
Entrez_Gene (NCBI)BFSP1  631  beaded filament structural protein 1
AliasesCP115; CP94; CTRCT33; LIFL-H
GeneCards (Weizmann)BFSP1
Ensembl hg19 (Hinxton)ENSG00000125864 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000125864 [Gene_View]  chr20:17493905-17558960 [Contig_View]  BFSP1 [Vega]
ICGC DataPortalENSG00000125864
TCGA cBioPortalBFSP1
AceView (NCBI)BFSP1
Genatlas (Paris)BFSP1
WikiGenes631
SOURCE (Princeton)BFSP1
Genetics Home Reference (NIH)BFSP1
Genomic and cartography
GoldenPath hg38 (UCSC)BFSP1  -     chr20:17493905-17558960 -  20p12.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BFSP1  -     20p12.1   [Description]    (hg19-Feb_2009)
EnsemblBFSP1 - 20p12.1 [CytoView hg19]  BFSP1 - 20p12.1 [CytoView hg38]
Mapping of homologs : NCBIBFSP1 [Mapview hg19]  BFSP1 [Mapview hg38]
OMIM603307   611391   
Gene and transcription
Genbank (Entrez)AF039655 AK304673 AK316247 BC041483 BF727338
RefSeq transcript (Entrez)NM_001161705 NM_001195 NM_001278606 NM_001278607 NM_001278608
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)BFSP1
Cluster EST : UnigeneHs.129702 [ NCBI ]
CGAP (NCI)Hs.129702
Alternative Splicing GalleryENSG00000125864
Gene ExpressionBFSP1 [ NCBI-GEO ]   BFSP1 [ EBI - ARRAY_EXPRESS ]   BFSP1 [ SEEK ]   BFSP1 [ MEM ]
Gene Expression Viewer (FireBrowse)BFSP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)631
GTEX Portal (Tissue expression)BFSP1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ12934   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ12934  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ12934
Splice isoforms : SwissVarQ12934
PhosPhoSitePlusQ12934
Domains : Interpro (EBI)IF   
Domain families : Pfam (Sanger)Filament (PF00038)   
Domain families : Pfam (NCBI)pfam00038   
Domain families : Smart (EMBL)Filament (SM01391)  
Conserved Domain (NCBI)BFSP1
DMDM Disease mutations631
Blocks (Seattle)BFSP1
SuperfamilyQ12934
Human Protein AtlasENSG00000125864
Peptide AtlasQ12934
HPRD04494
IPIIPI00030282   IPI00643064   IPI01014348   
Protein Interaction databases
DIP (DOE-UCLA)Q12934
IntAct (EBI)Q12934
FunCoupENSG00000125864
BioGRIDBFSP1
STRING (EMBL)BFSP1
ZODIACBFSP1
Ontologies - Pathways
QuickGOQ12934
Ontology : AmiGOstructural constituent of cytoskeleton  structural constituent of eye lens  protein binding  intermediate filament  plasma membrane  cell cortex  cytoskeleton organization  biological_process  cell maturation  lens fiber cell development  
Ontology : EGO-EBIstructural constituent of cytoskeleton  structural constituent of eye lens  protein binding  intermediate filament  plasma membrane  cell cortex  cytoskeleton organization  biological_process  cell maturation  lens fiber cell development  
NDEx NetworkBFSP1
Atlas of Cancer Signalling NetworkBFSP1
Wikipedia pathwaysBFSP1
Orthology - Evolution
OrthoDB631
GeneTree (enSembl)ENSG00000125864
Phylogenetic Trees/Animal Genes : TreeFamBFSP1
HOVERGENQ12934
HOGENOMQ12934
Homologs : HomoloGeneBFSP1
Homology/Alignments : Family Browser (UCSC)BFSP1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBFSP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BFSP1
dbVarBFSP1
ClinVarBFSP1
1000_GenomesBFSP1 
Exome Variant ServerBFSP1
ExAC (Exome Aggregation Consortium)BFSP1 (select the gene name)
Genetic variants : HAPMAP631
Genomic Variants (DGV)BFSP1 [DGVbeta]
DECIPHERBFSP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBFSP1 
Mutations
ICGC Data PortalBFSP1 
TCGA Data PortalBFSP1 
Broad Tumor PortalBFSP1
OASIS PortalBFSP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBFSP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBFSP1
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
LOVD (Leiden Open Variation Database)Eye diseases - LOVD
BioMutasearch BFSP1
DgiDB (Drug Gene Interaction Database)BFSP1
DoCM (Curated mutations)BFSP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BFSP1 (select a term)
intoGenBFSP1
Cancer3DBFSP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603307    611391   
Orphanet14008   
MedgenBFSP1
Genetic Testing Registry BFSP1
NextProtQ12934 [Medical]
TSGene631
GENETestsBFSP1
Target ValidationBFSP1
Huge Navigator BFSP1 [HugePedia]
snp3D : Map Gene to Disease631
BioCentury BCIQBFSP1
ClinGenBFSP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD631
Chemical/Pharm GKB GenePA25343
Clinical trialBFSP1
Miscellaneous
canSAR (ICR)BFSP1 (select the gene name)
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBFSP1
EVEXBFSP1
GoPubMedBFSP1
iHOPBFSP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 15:39:39 CEST 2017

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