STX11 |
- 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)