SIL1 |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- SIL1 (HGNC:24624) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- SIL1 nucleotide exchange factor
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- MSS
- Alias symbols
- BAP, ULG5
- %HI
- 17.56(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.02(Read more about gnomAD LOEUF score)
- Cytoband
- 5q31.2
- Genomic Coordinates
-
GRCh37/hg19: chr5:138282413-138534057 NCBI Ensembl UCSC GRCh38/hg38: chr5:138946724-139198368 NCBI Ensembl UCSC - MANE Select Transcript
- NM_022464.5 ENST00000394817.7 (Read more about MANE Select)
- Function
- Required for protein translocation and folding in the endoplasmic reticulum (ER). Functions as a nucleotide exchange factor for the ER lumenal chaperone HSPA5. {ECO:0000269|PubMed:12356756}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-4168
ClinGen Curation ID:
CCID:007849
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/23/2021
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- Marinesco-Sjogren syndrome Monarch
HI Evidence Comments:
Per OMIM, biallelic variants in SIL1 have been reported in individuals with Marinesco-Sjogren syndrome (MIM:248800).
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000005.9)
(NC_000005.10)