STXBP6

syntaxin binding protein 6

Basic information

Region (hg38): 14:24809454-25050147

Links

ENSG00000168952OMIM:607958HGNC:19666Uniprot:Q8NFX7AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the STXBP6 gene.

  • not_specified (21 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the STXBP6 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001394410.1. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
0
missense
21
clinvar
21
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 21 0 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
STXBP6protein_codingprotein_codingENST00000323944 5240642
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.00007870.7751257210151257360.0000597
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.711941160.8140.000006331381
Missense in Polyphen2127.2590.77038322
Synonymous-0.1134544.01.020.00000272374
Loss of Function1.12812.20.6546.90e-7134

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001490.000149
Ashkenazi Jewish0.000.00
East Asian0.00005870.0000544
Finnish0.000.00
European (Non-Finnish)0.00007110.0000703
Middle Eastern0.00005870.0000544
South Asian0.00006860.0000653
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Forms non-fusogenic complexes with SNAP25 and STX1A and may thereby modulate the formation of functional SNARE complexes and exocytosis.;

Recessive Scores

pRec
0.0925

Intolerance Scores

loftool
0.512
rvis_EVS
-0.23
rvis_percentile_EVS
36.86

Haploinsufficiency Scores

pHI
0.234
hipred
Y
hipred_score
0.719
ghis
0.567

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.137

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Stxbp6
Phenotype

Gene ontology

Biological process
exocytosis;Golgi to plasma membrane transport;regulation of SNARE complex assembly;negative regulation of exocytosis;exocyst localization;cell-cell adhesion
Cellular component
exocyst;plasma membrane;cell-cell adherens junction;integral component of membrane
Molecular function
phosphatidylinositol-4,5-bisphosphate binding;GTP-Rho binding;cadherin binding involved in cell-cell adhesion