DOK7
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
DOK7 (HGNC:26594) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
docking protein 7
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
C4orf25
Alias symbols
FLJ33718, FLJ39137, Dok-7
%HI
75.35(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.66(Read more about gnomAD LOEUF score)
Cytoband
4p16.3
Genomic Coordinates
GRCh37/hg19: chr4:3465033-3503209 NCBI Ensembl UCSC
GRCh38/hg38: chr4:3463306-3501482 NCBI Ensembl UCSC
MANE Select Transcript
NM_173660.5 ENST00000340083.6 (Read more about MANE Select)
Function
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. {ECO:0000269|PubMed:20603078}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-5974
ClinGen Curation ID:
CCID:007025
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • congenital myasthenic syndrome 10 Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000004.11) (NC_000004.12)