SPEG |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- SPEG (HGNC:16901) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- striated muscle enriched protein kinase
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- APEG1
- Alias symbols
- MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG, MYLK6
- %HI
- 37.41(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.92(Read more about gnomAD pLI score)
- LOEUF
- 0.29(Read more about gnomAD LOEUF score)
- Cytoband
- 2q35
- Genomic Coordinates
-
GRCh37/hg19: chr2:220299565-220358351 NCBI Ensembl UCSC GRCh38/hg38: chr2:219434843-219493629 NCBI Ensembl UCSC - MANE Select Transcript
- NM_005876.5 ENST00000312358.12 (Read more about MANE Select)
- Function
- Isoform 3 may have a role in regulating the growth and differentiation of arterial smooth muscle cells. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-6614
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- myopathy, centronuclear, 5 Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000002.11)
(NC_000002.12)