SETBP1
  • 3
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
SETBP1 (HGNC:15573) HGNC Entrez Ensembl OMIM UCSC GeneReviews LOVD LSDB ClinVar
HGNC Name
SET binding protein 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
SEB, KIAA0437
%HI
4.67(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.14(Read more about gnomAD LOEUF score)
Cytoband
18q12.3
Genomic Coordinates
GRCh37/hg19: chr18:42260038-42648475 NCBI Ensembl UCSC
GRCh38/hg38: chr18:44680073-45068510 NCBI Ensembl UCSC
MANE Select Transcript
NM_015559.3 ENST00000649279.2 (Read more about MANE Select)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-32270
ClinGen Curation ID:
CCID:007829
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency (3)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
05/23/2018

Haploinsufficiency (HI) Score Details

HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
  • intellectual disability, autosomal dominant 29 Monarch
HI Evidence:
  • PUBMED: 25217958
    Coe et al. (2014) reviewed nine patients with presumably loss of function, several known to be de novo, mutations and deletions in patients with variable phenotype that can include expressive language delays and intellectual disabilities.
  • PUBMED: 25356899
    Hamdan et al. (2014) reports de novo truncating mutations in a patient with moderate non-syndromic intellectual disability. The additional clinical information from the supplemental materials indicates this is a 6.5 year old with only 2-3 word sentences, supporting the presence of expressive language delays.
HI Evidence Comments:
21037274 Filges et al. (2011) and 22333924 Marseglias et al. (2012) describe relatively focal de novo deletions in patients with intellectual disabilities, including significant expressive language impairment. Possible gain of function or dominant negative mutations have been associated with Schinzel-Giedion syndrome (OMIM #269150), a distinct phenotype from the phenotype associated with haploinsufficiency.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000018.9) (NC_000018.10)