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)
Triplosensitivity:
Not Yet Evaluated
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)