• 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
STX11 (HGNC:11429) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
syntaxin 11
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
No aliases found
%HI
37.4(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.38(Read more about gnomAD LOEUF score)
Cytoband
6q24.2
Genomic Coordinates
GRCh37/hg19: chr6:144471654-144513076 NCBI Ensembl UCSC
GRCh38/hg38: chr6:144139963-144191939 NCBI Ensembl UCSC
MANE Select Transcript
NM_003764.4 ENST00000367568.5 (Read more about MANE Select)
Function
SNARE that acts to regulate protein transport between late endosomes and the trans-Golgi network. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-19968
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • familial hemophagocytic lymphohistiocytosis 4 Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000006.11) (NC_000006.12)