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)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
Last Evaluated:
08/23/2021

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
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)