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Tbio
FRAS1
Extracellular matrix protein FRAS1

Protein Summary
Description
This gene encodes an extracellular matrix protein that appears to function in the regulation of epidermal-basement membrane adhesion and organogenesis during development. Mutations in this gene cause Fraser syndrome, a multisystem malformation that can include craniofacial, urogenital and respiratory system abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000325942
  • ENSP00000326330
  • ENSG00000138759
  • ENST00000512123
  • ENSP00000422834

Symbol
  • KIAA1500
  • FRASRS1
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
trait
0.86
histone modification site profile
0.84
PubMedID
0.79
virus perturbation
0.79
transcription factor binding site profile
0.74


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.
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.
GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
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: 51.79   (req: < 5)
Gene RIFs: 11   (req: <= 3)
Antibodies: 29   (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: 51.79   (req: >= 5)
Gene RIFs: 11   (req: > 3)
Antibodies: 29   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 9
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
GWAS Traits (4)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
hair shape measurement
1
1
1
69.6
hair color
1
1
0
1.1
57.5
FEV/FEC ratio
1
1
1
55.6
hemoglobin measurement
1
1
1
14.3
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
hair shape measurement
1
69.6
hair color
0
1.1
57.5
FEV/FEC ratio
1
55.6
hemoglobin measurement
1
14.3
Orthologs (9)
1 – 5 of 9
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Mouse
MGI:2385368
231470
Rat
RGD:1306516
289486
Dog
Fraser extracellular matrix complex subunit 1
VGNC:40975
478446
Horse
Fraser extracellular matrix complex subunit 1
VGNC:18123
100051496
Pig
Fraser extracellular matrix complex subunit 1
100514970
Species
Name
OMA
EggNOG
Inparanoid
Mouse
Rat
Dog
Fraser extracellular matrix complex subunit 1
Horse
Fraser extracellular matrix complex subunit 1
Pig
Fraser extracellular matrix complex subunit 1
Protein Structure (0 Structures, 15 AlphaFold Models)
RepresentationColor Scheme

AlphaFold Structures Developed by DeepMind and EMBL-EBI

Gene Ontology Terms (12)
Items per page:
10
1 – 2 of 2
GO Term
Evidence
Assigned by
Inferred from Sequence or structural Similarity (ISS)
BHF-UCL
Inferred from Electronic Annotation (IEA)
UniProtKB-KW
Protein-Protein Interactions (77)
1 – 10 of 77
ZFP41
Tdark
Family: TF
Novelty: 3.33093006
p_int: 0.998619041
p_ni: 0.001380959
Data Source: BioPlex
TAZ
Tbio
Novelty: 0.00372301
p_int: 0.992879084
p_ni: 0.007120916
Data Source: BioPlex
DKKL1
Tbio
Novelty: 0.00544618
p_int: 0.985652295
p_ni: 0.014347705
Data Source: BioPlex
DEFA5
Tbio
Novelty: 0.00863727
p_int: 0.982406999
p_ni: 0.017593001
Data Source: BioPlex
GPHA2
Tbio
Novelty: 0.01057969
p_int: 0.977878501
p_ni: 0.022121499
Data Source: BioPlex
PSG8
Tdark
Novelty: 0.1446257
p_int: 0.967191055
p_ni: 0.032808945
Data Source: BioPlex
ZSCAN21
Tbio
Family: TF
Novelty: 0.18025344
p_int: 0.959268093
p_ni: 0.040731906
Data Source: BioPlex
CSTL1
Tbio
Novelty: 0.13370814
p_int: 0.943911804
p_ni: 0.056088196
Data Source: BioPlex
ZNF408
Tbio
Family: TF
Novelty: 0.10649477
p_int: 0.938913422
p_ni: 0.061086578
Score: 0.171
Data Source: BioPlex,STRINGDB
HPSE2
Tbio
Family: Enzyme
Novelty: 0.00583615
p_int: 0.937996063
p_ni: 0.062003937
Score: 0.209
Data Source: BioPlex,STRINGDB
Publication Statistics
PubMed Score  51.79

PubMed score by year
PubTator Score  23.73

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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