NOS1AP
nitric oxide synthase 1 adaptor protein, the group of MicroRNA protein coding host genes
Basic information
Region (hg38): 1:162069691-162370475
Links
Phenotypes
GenCC
Source:
- nephrotic syndrome, type 22 (Limited), mode of inheritance: AR
Clinical Genomic Database
Source:
| Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
|---|---|---|---|---|---|
| Nephrotic syndrome, type 22 | AR | General | Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing | Renal | 33523862 |
| Renal transplant has been described |
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (61 variants)
- not_provided (14 variants)
- Nephrotic_syndrome,_type_22 (4 variants)
- NOS1AP-related_disorder (2 variants)
- Long_QT_syndrome (2 variants)
- Cardiac_arrhythmia (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the NOS1AP gene is commonly pathogenic or not. These statistics are base on transcript: NM_000014697.3. 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.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 13 | |||||
| missense | 53 | 58 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 1 | 0 | 53 | 9 | 8 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| NOS1AP | protein_coding | protein_coding | ENST00000361897 | 10 | 313758 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.614 | 0.386 | 125740 | 0 | 8 | 125748 | 0.0000318 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 2.04 | 203 | 303 | 0.671 | 0.0000196 | 3297 |
| Missense in Polyphen | 43 | 100.96 | 0.42593 | 1148 | ||
| Synonymous | 1.74 | 110 | 136 | 0.810 | 0.0000101 | 1002 |
| Loss of Function | 3.69 | 5 | 24.8 | 0.201 | 0.00000132 | 270 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000616 | 0.0000615 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000441 | 0.0000439 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.0000653 | 0.0000653 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Adapter protein involved in neuronal nitric-oxide (NO) synthesis regulation via its association with nNOS/NOS1. The complex formed with NOS1 and synapsins is necessary for specific NO and synapsin functions at a presynaptic level. Mediates an indirect interaction between NOS1 and RASD1 leading to enhance the ability of NOS1 to activate RASD1. Competes with DLG4 for interaction with NOS1, possibly affecting NOS1 activity by regulating the interaction between NOS1 and DLG4 (By similarity). {ECO:0000250}.;
- Pathway
- Circadian entrainment - Homo sapiens (human);Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways
(Consensus)
Recessive Scores
- pRec
- 0.413
Intolerance Scores
- loftool
- 0.267
- rvis_EVS
- 0.02
- rvis_percentile_EVS
- 55.45
Haploinsufficiency Scores
- pHI
- 0.364
- hipred
- N
- hipred_score
- 0.470
- ghis
- 0.474
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.763
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Nos1ap
- Phenotype
- growth/size/body region phenotype; skeleton phenotype; renal/urinary system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hearing/vestibular/ear phenotype; vision/eye phenotype;
Zebrafish Information Network
- Gene name
- nos1apa
- Affected structure
- action potential
- Phenotype tag
- abnormal
- Phenotype quality
- disrupted
Gene ontology
- Biological process
- regulation of heart rate by chemical signal;positive regulation of gene expression;positive regulation of nitric oxide mediated signal transduction;regulation of nitric oxide biosynthetic process;positive regulation of nitric oxide biosynthetic process;regulation of nitric-oxide synthase activity;positive regulation of nitric-oxide synthase activity;regulation of ventricular cardiac muscle cell membrane repolarization;regulation of cardiac muscle cell action potential;postsynaptic actin cytoskeleton organization;positive regulation of potassium ion transmembrane transport;regulation of high voltage-gated calcium channel activity;positive regulation of delayed rectifier potassium channel activity;regulation of calcium ion transmembrane transport via high voltage-gated calcium channel;positive regulation of voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization;positive regulation of peptidyl-cysteine S-nitrosylation
- Cellular component
- nucleus;mitochondrion;cytosol;caveola;Z disc;T-tubule;nuclear membrane;sarcoplasmic reticulum membrane;sarcolemma;perinuclear region of cytoplasm;glutamatergic synapse;inward rectifier potassium channel complex;L-type voltage-gated calcium channel complex
- Molecular function
- protein binding;nitric-oxide synthase binding