STX12
Basic information
Region (hg38): 1:27773218-27824443
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the STX12 gene is commonly pathogenic or not.
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.
Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
---|---|---|---|---|---|---|
synonymous | 0 | |||||
missense | 14 | 15 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 1 | 1 | ||||
non coding | 0 | |||||
Total | 0 | 0 | 14 | 1 | 0 |
Variants in STX12
This is a list of pathogenic ClinVar variants found in the STX12 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
1-27773318-G-A | not specified | Uncertain significance (Jan 03, 2024) | ||
1-27773336-G-A | not specified | Uncertain significance (Dec 16, 2023) | ||
1-27773350-T-G | not specified | Uncertain significance (Nov 18, 2021) | ||
1-27773410-C-T | not specified | Uncertain significance (Dec 02, 2022) | ||
1-27793533-G-T | not specified | Likely benign (Mar 08, 2024) | ||
1-27793585-C-G | not specified | Uncertain significance (Dec 30, 2023) | ||
1-27793591-G-C | not specified | Uncertain significance (Feb 17, 2023) | ||
1-27812172-G-C | not specified | Uncertain significance (Oct 06, 2021) | ||
1-27812184-G-A | not specified | Uncertain significance (Dec 17, 2023) | ||
1-27812258-G-A | not specified | Uncertain significance (May 26, 2024) | ||
1-27819653-G-A | not specified | Uncertain significance (Feb 21, 2024) | ||
1-27819688-G-A | not specified | Uncertain significance (Jan 09, 2024) | ||
1-27819695-G-A | not specified | Uncertain significance (Jun 30, 2022) | ||
1-27819716-G-A | not specified | Uncertain significance (Nov 07, 2022) | ||
1-27822237-T-A | not specified | Uncertain significance (Jan 22, 2024) | ||
1-27822240-C-T | not specified | Uncertain significance (May 31, 2022) | ||
1-27822255-A-G | not specified | Uncertain significance (May 10, 2024) | ||
1-27822316-A-C | not specified | Likely benign (Apr 26, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
STX12 | protein_coding | protein_coding | ENST00000373943 | 9 | 51270 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.956 | 0.0438 | 125735 | 0 | 12 | 125747 | 0.0000477 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.946 | 116 | 148 | 0.782 | 0.00000759 | 1808 |
Missense in Polyphen | 14 | 34.73 | 0.40311 | 448 | ||
Synonymous | 0.718 | 48 | 54.8 | 0.877 | 0.00000278 | 487 |
Loss of Function | 3.57 | 2 | 18.6 | 0.107 | 8.74e-7 | 216 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000124 | 0.000123 |
Ashkenazi Jewish | 0.000199 | 0.000198 |
East Asian | 0.00 | 0.00 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.0000532 | 0.0000527 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.0000657 | 0.0000653 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: SNARE that acts to regulate protein transport between late endosomes and the trans-Golgi network. The SNARE complex containing STX6, STX12, VAMP4 and VTI1A mediates vesicle fusion (in vitro) (By similarity). Through complex formation with GRIP1, GRIA2 and NSG1 controls the intracellular fate of AMPAR and the endosomal sorting of the GRIA2 subunit toward recycling and membrane targeting (By similarity). {ECO:0000250, ECO:0000250|UniProtKB:G3V7P1}.;
- Pathway
- Phagosome - Homo sapiens (human);Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics
(Consensus)
Recessive Scores
- pRec
- 0.119
Intolerance Scores
- loftool
- 0.487
- rvis_EVS
- -0.08
- rvis_percentile_EVS
- 47.79
Haploinsufficiency Scores
- pHI
- 0.614
- hipred
- Y
- hipred_score
- 0.699
- ghis
- 0.597
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.781
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Stx12
- Phenotype
Gene ontology
- Biological process
- autophagosome assembly;intracellular protein transport;vesicle fusion;cholesterol efflux;vesicle docking;protein stabilization
- Cellular component
- Golgi membrane;phagophore assembly site;synaptic vesicle;endomembrane system;integral component of membrane;integral component of synaptic vesicle membrane;BLOC-1 complex;SNARE complex;early endosome membrane;vesicle;membrane raft;phagocytic vesicle;recycling endosome membrane;postsynaptic recycling endosome
- Molecular function
- SNARE binding;SNAP receptor activity;protein binding