• 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:

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)