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Tbio
DOK7
Protein Dok-7

Protein Summary
Description
Probable muscle-intrinsic activator of MUSK that plays an essential role in neuromuscular synaptogenesis. Acts in aneural activation of MUSK and subsequent acetylcholine receptor (AchR) clustering in myotubes. Induces autophosphorylation of MUSK. The protein encoded by this gene is essential for neuromuscular synaptogenesis. The protein functions in aneural activation of muscle-specific receptor kinase, which is required for postsynaptic differentiation, and in the subsequent clustering of the acetylcholine receptor in myotubes. This protein can also induce autophosphorylation of muscle-specific receptor kinase. Mutations in this gene are a cause of familial limb-girdle myasthenia autosomal recessive, which is also known as congenital myasthenic syndrome type 1B. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000340083
  • ENSP00000344432
  • ENSG00000175920
  • ENST00000507039
  • ENSP00000423614

Symbol
  • C4orf25
  • CMS10
  • CMS1B
  • C4orf25
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
cell type or tissue
0.9
interacting protein
0.68
transcription factor perturbation
0.61
tissue
0.58
tissue sample
0.58


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: 81.35   (req: < 5)
Gene RIFs: 25   (req: <= 3)
Antibodies: 372   (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: 81.35   (req: >= 5)
Gene RIFs: 25   (req: > 3)
Antibodies: 372   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 3
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 (7)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
testosterone measurement
1
1
1
77.5
vitamin D measurement
3
1
3
74.2
triglyceride measurement
2
1
2
68
total cholesterol measurement
1
1
1
36.6
low density lipoprotein cholesterol measurement
1
1
1
21.3
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
testosterone measurement
1
77.5
vitamin D measurement
3
74.2
triglyceride measurement
2
68
total cholesterol measurement
1
36.6
low density lipoprotein cholesterol measurement
1
21.3
Orthologs (12)
1 – 5 of 12
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
docking protein 7
VGNC:10879
750536
Mouse
MGI:3584043
231134
Rat
RGD:1566416
305448
Dog
docking protein 7
VGNC:53167
488794
Horse
docking protein 7
VGNC:17277
100054020
Species
Name
OMA
EggNOG
Inparanoid
Chimp
docking protein 7
Mouse
Rat
Dog
docking protein 7
Horse
docking protein 7
Protein Structure (0 Structures, 1 AlphaFold Model)
RepresentationColor Scheme
AF-Q18PE1-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

Gene Ontology Terms (9)
Items per page:
10
1 – 2 of 2
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Electronic Annotation (IEA)
UniProtKB-KW
Protein-Protein Interactions (40)
1 – 10 of 40
MUSK
Tchem
Family: Kinase
Novelty: 0.00151518
Score: 0.99
Data Source: STRINGDB
RAPSN
Tbio
Novelty: 0.00565077
Score: 0.901
Data Source: STRINGDB
COLQ
Tbio
Family: Enzyme
Novelty: 0.01414634
Score: 0.829
Data Source: STRINGDB
AGRN
Tbio
Novelty: 0.00156441
Score: 0.808
Data Source: STRINGDB
CHRND
Tclin
Family: IC
Novelty: 0.0441685
Score: 0.804
Data Source: STRINGDB
DNAJA3
Tbio
Novelty: 0.02196177
Score: 0.75
Data Source: STRINGDB
CHRNE
Tclin
Family: IC
Novelty: 0.01908511
Score: 0.748
Data Source: STRINGDB
LRP4
Tbio
Novelty: 0.01336125
Score: 0.746
Data Source: STRINGDB
CHRNA1
Tclin
Family: IC
Novelty: 0.01393364
Score: 0.728
Data Source: STRINGDB
CHRNB1
Tclin
Family: IC
Novelty: 0.04777051
Score: 0.7
Data Source: STRINGDB
Publication Statistics
PubMed Score  81.35

PubMed score by year
PubTator Score  56.57

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