SIM1 |
- 0
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- SIM1 (HGNC:10882) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- SIM bHLH transcription factor 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- bHLHe14
- %HI
- 2.5(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.25(Read more about gnomAD LOEUF score)
- Cytoband
- 6q16.3
- Genomic Coordinates
-
GRCh37/hg19: chr6:100832885-100912797 NCBI Ensembl UCSC GRCh38/hg38: chr6:100385009-100464921 NCBI Ensembl UCSC - MANE Select Transcript
- NM_005068.3 ENST00000369208.8 (Read more about MANE Select)
- Function
- Transcriptional factor that may have pleiotropic effects during embryogenesis and in the adult. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-34302
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency
(0)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
04/25/2012
Haploinsufficiency (HI) Score Details
HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency
(Disclaimer)
HI Evidence Comments:
SIM1 loss-of-function was been associated with a "Prader-Willi-like" phenotype characterized by developmental delay, intellectual disability, obesity, and/or hyperplasia based on an article by Holder et al (2000, PMID 10587584) describing a de novo balanced translocation between 1p22.1 and 6q16.2. The translocation breakpoint on chromosome 6 fell within the first intron and separated the 5' flanking sequence and the first exon from downstream exams. No transcripts on chromosome 1 were disrupted.
All reports in the literature of SIM1 loss are of deletions encompassing SIM1 and other genes, do not provide information on inheritance and/or do not provide clear phenotypic information. Predicted loss-of-function variants in SIM1 (nonsense and frameshift) have been identified in obese individuals. A heterozygous frameshift was reported in a clinical exome sequencing cohort by Yavarna et al (2015, PMID 26077850), but no clinical details were provided. Rare SIM1 missense variants which reduce SIM1 activity have been identified in obesity cohorts (PMID: 23778136).
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000006.11)
(NC_000006.12)