Tbio BFSP1 Filensin

Protein Summary

Description

This gene encodes a lens-specific intermediate filament-like protein named filensin. The encoded protein is expressed in lens fiber cells after differentiation has begun. This protein functions as a component of the beaded filament which is a cytoskeletal structure found in lens fiber cells. Mutations in this gene are the cause of autosomal recessive cortical juvenile-onset cataract. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

Uniprot Accession IDs

• Q12934
• F5H0G1
• O43595
• O76034
• O95676
• Q8IVZ6
• Q9HBX4

Gene Name

• BFSP1

Ensembl ID

• ENST00000377868
• ENSP00000367099
• ENSG00000125864
• ENST00000377873
• ENSP00000367104
• ENST00000536626
• ENSP00000442522

Symbol

• CP94
• CP115
• LIFL-H
• CTRCT33

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
cellular component	0.68
gene perturbation	0.65
small molecule perturbation	0.62
trait	0.61
cell line	0.57

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 66.08   (req: < 5)

Gene RIFs: 4   (req: <= 3)

Antibodies: 232   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 66.08   (req: >= 5)

Gene RIFs: 4   (req: > 3)

Antibodies: 232   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 4

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0

Protein Sequence and Structure

Residue Counts

Protein Sequence

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Expression Data (0 Tissues)

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No expression data found

Related Tools

Target Illumination GWAS Analytics (TIGA)

TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.

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GENEVA

GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.

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GlyGen

GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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Approved Drugs (0)

No approved drugs found

Active Ligands (0)

No active ligands found

Protein-Protein Interactions (86)

Explore Interacting Targets

1 – 10 of 86

• See Interactions on String-DB

BFSP2

Tbio

Novelty:  0.00206411

p_int:  0.999999991

p_ni:  2e-9

p_wrong:  7e-9

Score:  0.968

Data Source:  BioPlex,STRINGDB

CCDC18

Tdark

Novelty:  0.61246881

p_int:  0.999999978

p_ni:  2.2e-8

Data Source:  BioPlex

C16orf45

Tbio

Novelty:  0.00913059

p_int:  0.999999868

p_ni:  1.32e-7

Score:  0.187

Data Source:  BioPlex,STRINGDB

PIBF1

Tbio

Novelty:  0.0454209

p_int:  0.9999989

p_ni:  0.000001099

p_wrong:  1e-9

Data Source:  BioPlex

CCDC92

Tbio

Novelty:  0.32125749

p_int:  0.999998552

p_ni:  0.000001432

p_wrong:  1.6e-8

Data Source:  BioPlex

MPHOSPH9

Tbio

Family:  Enzyme

Novelty:  0.06682688

p_int:  0.999998367

p_ni:  0.000001318

p_wrong:  3.16e-7

Data Source:  BioPlex

NUP54

Tbio

Novelty:  0.08155008

p_int:  0.999997601

p_ni:  0.000002398

p_wrong:  1e-9

Score:  0.188

Data Source:  BioPlex,STRINGDB

CIT

Tchem

Family:  Kinase

Novelty:  0.04094716

p_int:  0.999997423

p_ni:  0.000002577

Data Source:  BioPlex

TRIM9

Tbio

Family:  Enzyme

Novelty:  0.06250762

p_int:  0.999965371

p_ni:  0.000030169

p_wrong:  0.000004461

Data Source:  BioPlex

CEP63

Tbio

Novelty:  0.08869992

p_int:  0.999937192

p_ni:  0.000062798

p_wrong:  1e-8

Data Source:  BioPlex

Nearest Tclin Targets

Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.

Pathways (0)

No pathways found

Viral Interactions (0)

No viral interactions found

Gene Ontology Terms (7)

Functions (2)

Components (3)

Processes (2)

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1 – 2 of 2

GO Term	Evidence	Assigned by
structural constituent of cytoskeleton	Traceable Author Statement (TAS)	ProtInc
structural constituent of eye lens	Inferred from Electronic Annotation (IEA)	UniProtKB-KW

Disease Associations ()

No disease associations found

GWAS Traits (12)

• Explore on Target Illumination GWAS Analytics (TIGA)

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5

1 – 5 of 12

GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
eosinophil count	EFO_0004842	2	2	2		84.1
apolipoprotein A 1 measurement	EFO_0004614	2	1	2		77.7
high density lipoprotein cholesterol measurement	EFO_0004612	2	1	2		67.1
myeloperoxidase measurement	EFO_0005243	1	1	1		64.9
eosinophil percentage of leukocytes	EFO_0007991	1	1	1		44.2

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5

1 – 5 of 12

GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
eosinophil count	EFO_0004842	2		84.1
apolipoprotein A 1 measurement	EFO_0004614	2		77.7
high density lipoprotein cholesterol measurement	EFO_0004612	2		67.1
myeloperoxidase measurement	EFO_0005243	1		64.9
eosinophil percentage of leukocytes	EFO_0007991	1		44.2

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Find similar targets by:

UniProt Keyword Find Similar Targets

No Header	No Header
Alternative splicing
Cataract
Cell membrane
Coiled coil
Complete proteome
Cytoplasm
Cytoskeleton
Eye lens protein
Intermediate filament
Membrane

GWAS Trait Find Similar Targets

No Header	No Header
alkaline phosphatase measurement
apolipoprotein A 1 measurement
apolipoprotein B measurement
body height
eosinophil count
eosinophil percentage of leukocytes
high density lipoprotein cholesterol measurement
myeloperoxidase measurement
platelet count
platelet crit

MGI Phenotype Find Similar Targets

No Header	No Header
behavior/neurological phenotype
cardiovascular system phenotype
endocrine/exocrine gland phenotype
nervous system phenotype
reproductive system phenotype
vision/eye phenotype

IDG Resources

No IDG generated resources found

Orthologs (13)

1 – 5 of 13

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	beaded filament structural protein 1	VGNC:6051	458107
Macaque	beaded filament structural protein 1		695840
Mouse	beaded filament structural protein 1, in lens-CP94	MGI:101770	12075
Rat	beaded filament structural protein 1	RGD:2205	25394
Dog	beaded filament structural protein 1	VGNC:38440	485756

Species	Name	OMA	EggNOG	Inparanoid
Chimp	beaded filament structural protein 1
Macaque	beaded filament structural protein 1
Mouse	beaded filament structural protein 1, in lens-CP94
Rat	beaded filament structural protein 1
Dog	beaded filament structural protein 1

Publication Statistics

PubMed Score 66.08

PubMed score by year

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PubTator Score 55.43

PubTator score by year

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Related Publications

Text Mined References (19)

GeneRif Annotations (4)

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PMID	Year	Title