SYAP1
Basic information
Region (hg38): X:16719611-16765340
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 SYAP1 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 | 10 | 12 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 10 | 2 | 0 |
Variants in SYAP1
This is a list of pathogenic ClinVar variants found in the SYAP1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
X-16719792-G-A | not specified | Uncertain significance (Feb 17, 2023) | ||
X-16719801-C-T | Likely benign (Apr 01, 2023) | |||
X-16719813-C-G | not specified | Likely benign (Feb 27, 2023) | ||
X-16719822-C-T | not specified | Uncertain significance (Jun 07, 2024) | ||
X-16719832-G-T | not specified | Uncertain significance (Jun 10, 2024) | ||
X-16719845-G-A | not specified | Uncertain significance (Mar 30, 2024) | ||
X-16719848-C-G | not specified | Uncertain significance (Oct 30, 2023) | ||
X-16736179-A-T | not specified | Uncertain significance (May 09, 2023) | ||
X-16743773-G-A | not specified | Uncertain significance (Oct 25, 2023) | ||
X-16743785-A-G | not specified | Uncertain significance (Mar 21, 2024) | ||
X-16743827-C-G | not specified | Uncertain significance (Jul 20, 2021) | ||
X-16743830-G-A | not specified | Uncertain significance (May 15, 2024) | ||
X-16754985-G-A | not specified | Uncertain significance (Jun 13, 2024) | ||
X-16755051-G-A | not specified | Uncertain significance (Dec 17, 2023) | ||
X-16755052-A-G | not specified | Uncertain significance (Dec 17, 2023) | ||
X-16755070-G-A | not specified | Uncertain significance (Jun 05, 2023) | ||
X-16756681-C-T | not specified | Uncertain significance (Apr 19, 2023) | ||
X-16757256-A-C | not specified | Uncertain significance (Apr 08, 2024) | ||
X-16757300-G-A | not specified | Uncertain significance (Jun 02, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
SYAP1 | protein_coding | protein_coding | ENST00000380155 | 9 | 45705 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.943 | 0.0568 | 113639 | 0 | 1 | 113640 | 0.00000440 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.16 | 90 | 127 | 0.710 | 0.00000961 | 2327 |
Missense in Polyphen | 25 | 42.811 | 0.58397 | 730 | ||
Synonymous | 0.338 | 49 | 52.1 | 0.940 | 0.00000442 | 629 |
Loss of Function | 3.15 | 1 | 13.5 | 0.0742 | 9.34e-7 | 241 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00 | 0.00 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.0000796 | 0.0000628 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.00 | 0.00 |
Middle Eastern | 0.0000796 | 0.0000628 |
South Asian | 0.00 | 0.00 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Plays a role in adipocyte differentiation by promoting mTORC2-mediated phosphorylation of AKT1 at 'Ser-473' after growth factor stimulation (PubMed:23300339). {ECO:0000269|PubMed:23300339}.;
Recessive Scores
- pRec
- 0.108
Intolerance Scores
- loftool
- 0.104
- rvis_EVS
- -0.16
- rvis_percentile_EVS
- 41.25
Haploinsufficiency Scores
- pHI
- 0.0761
- hipred
- Y
- hipred_score
- 0.654
- ghis
- 0.542
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.148
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Syap1
- Phenotype
Gene ontology
- Biological process
- cell differentiation;cellular response to insulin stimulus;cellular response to platelet-derived growth factor stimulus;TORC2 signaling;positive regulation of fat cell differentiation;cellular response to epidermal growth factor stimulus;positive regulation of protein serine/threonine kinase activity;positive regulation of protein homodimerization activity;cellular response to insulin-like growth factor stimulus
- Cellular component
- nucleoplasm;Golgi apparatus;cytosol;cell junction;axon;dendrite;growth cone;extrinsic component of cytoplasmic side of plasma membrane;presynaptic membrane;perikaryon;postsynaptic membrane;perinuclear region of cytoplasm;extracellular exosome
- Molecular function
- protein binding