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)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
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)