NOS1AP

nitric oxide synthase 1 adaptor protein, the group of MicroRNA protein coding host genes

Basic information

Region (hg38): 1:162069690-162370475

Links

ENSG00000198929 ∙ NCBI:9722 ∙ OMIM:605551 ∙ HGNC:16859 ∙ Uniprot:O75052 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• nephrotic syndrome, type 22 (Limited), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

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 ClinVar and linked to the NOS1AP gene.

• not provided (37 variants)
• not specified (16 variants)
• Inborn genetic diseases (11 variants)
• Nephrotic syndrome, type 22 (3 variants)
• Cardiac arrhythmia (1 variants)
• NOS1AP-related condition (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.

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				6	9	15
missense			17	3	1	21
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region			2		1	3
non coding			1	2	23	26
Total	0	0	18	11	33

Variants in NOS1AP

This is a list of pathogenic ClinVar variants found in the NOS1AP region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
1-162069905-C-T			Benign (May 15, 2021)
1-162070217-C-A			Uncertain significance (Mar 13, 2017)
1-162070223-C-G		not specified	Uncertain significance (Mar 14, 2023)
1-162070269-G-A		not specified	Uncertain significance (Mar 18, 2019)
1-162070515-C-A			Benign (Sep 04, 2018)
1-162154155-G-C			Benign (Mar 16, 2019)
1-162154450-A-G		not specified	Uncertain significance (Jul 11, 2023)
1-162287085-A-G			Benign (Mar 16, 2019)
1-162287243-C-G			Benign (Mar 16, 2019)
1-162287361-G-C		not specified	Uncertain significance (Mar 07, 2024)
1-162287386-A-T		not specified	Uncertain significance (Nov 14, 2023)
1-162287434-A-G		not specified	Uncertain significance (Sep 15, 2016)
1-162287491-A-G			Benign (May 25, 2021)
1-162287694-A-AC			Benign (Jun 19, 2021)
1-162287701-T-C			Benign (Apr 04, 2019)
1-162300637-T-A		not specified	Uncertain significance (May 31, 2023)
1-162300662-G-A		not specified	Benign (Dec 17, 2018)
1-162300673-G-A			Benign (Apr 23, 2018)
1-162332775-G-A			Benign (Mar 16, 2019)
1-162332789-C-T			Likely benign (Sep 15, 2020)
1-162332845-T-C			Benign (Apr 04, 2019)
1-162332899-C-T			Benign (Sep 06, 2018)
1-162333014-T-G		Nephrotic syndrome, type 22	Pathogenic (Apr 08, 2021)
1-162333018-A-G		not specified	Uncertain significance (Dec 19, 2022)
1-162333056-C-T			Benign/Likely benign (Jan 01, 2023)

GnomAD

Source: gnomAD

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: dbNSFP

• 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