NOSIP

nitric oxide synthase interacting protein, the group of Spliceosomal P complex|Spliceosomal C complex

Basic information

Region (hg38): 19:49555468-49590262

Links

ENSG00000142546 ∙ NCBI:51070 ∙ OMIM:616759 ∙ HGNC:17946 ∙ Uniprot:Q9Y314 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NOSIP 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			20			20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	20	0	0

Variants in NOSIP

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

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

Position	Type	Phenotype	Significance	ClinVar
19-49556340-G-A		not specified	Uncertain significance (Feb 20, 2025)
19-49556340-G-C		not specified	Uncertain significance (Feb 07, 2025)
19-49556400-C-T		not specified	Uncertain significance (Jun 05, 2024)
19-49556409-G-A		not specified	Uncertain significance (Jan 03, 2025)
19-49556423-C-T		not specified	Uncertain significance (Mar 07, 2025)
19-49556556-G-A		not specified	Uncertain significance (Dec 09, 2023)
19-49556690-G-C		not specified	Uncertain significance (Dec 13, 2023)
19-49556702-G-A		not specified	Uncertain significance (May 04, 2023)
19-49556709-C-G		not specified	Uncertain significance (May 21, 2024)
19-49556714-A-G		not specified	Uncertain significance (Dec 27, 2023)
19-49556729-G-A		not specified	Uncertain significance (Mar 25, 2024)
19-49556988-C-T		not specified	Uncertain significance (Mar 31, 2023)
19-49557095-C-A		not specified	Uncertain significance (Jan 26, 2022)
19-49557108-G-A		not specified	Uncertain significance (Jul 14, 2021)
19-49557116-G-A		not specified	Uncertain significance (May 10, 2024)
19-49557132-G-T		not specified	Uncertain significance (Apr 22, 2022)
19-49557144-C-G		not specified	Uncertain significance (Dec 10, 2024)
19-49557158-T-C		not specified	Uncertain significance (Nov 10, 2022)
19-49557210-T-C		not specified	Uncertain significance (Jan 17, 2024)
19-49557225-G-A		not specified	Uncertain significance (Dec 19, 2023)
19-49558953-C-T		not specified	Uncertain significance (Sep 10, 2024)
19-49558955-C-T		not specified	Uncertain significance (Oct 10, 2023)
19-49559947-C-T		not specified	Uncertain significance (Jan 23, 2024)
19-49559964-G-A		not specified	Uncertain significance (Dec 02, 2021)
19-49583553-G-A		not specified	Uncertain significance (Mar 01, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NOSIP	protein_coding	protein_coding	ENST00000391853	8	34552

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000126	0.843	125666	0	40	125706	0.000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.11	129	217	0.596	0.0000155	1908
Missense in Polyphen		19	54.46	0.34888		498
Synonymous	1.98	69	93.4	0.739	0.00000675	615
Loss of Function	1.38	10	15.9	0.627	9.13e-7	164

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000563	0.000543
Ashkenazi Jewish	0.0000996	0.0000992
East Asian	0.000110	0.000109
Finnish	0.0000472	0.0000462
European (Non-Finnish)	0.000110	0.000106
Middle Eastern	0.000110	0.000109
South Asian	0.000399	0.000392
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: E3 ubiquitin-protein ligase that is essential for proper development of the forebrain, the eye, and the face. Catalyzes monoubiquitination of serine/threonine-protein phosphatase 2A (PP2A) catalytic subunit PPP2CA/PPP2CB (By similarity). Negatively regulates nitric oxide production by inducing NOS1 and NOS3 translocation to actin cytoskeleton and inhibiting their enzymatic activity (PubMed:11149895, PubMed:15548660, PubMed:16135813). {ECO:0000250|UniProtKB:Q9D6T0, ECO:0000269|PubMed:11149895, ECO:0000269|PubMed:15548660, ECO:0000269|PubMed:16135813}.
• Pathway: Metabolism of nitric oxide;NOSIP mediated eNOS trafficking;eNOS activation and regulation;Metabolism (Consensus)

Recessive Scores

• pRec: 0.111

Intolerance Scores

• loftool: 0.592
• rvis_EVS: -0.34
• rvis_percentile_EVS: 30.07

Haploinsufficiency Scores

• pHI: 0.200
• hipred: N
• hipred_score: 0.491
• ghis: 0.550

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.934

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Nosip

Gene ontology

• Biological process: multicellular organism development;protein ubiquitination;negative regulation of catalytic activity;regulation of nitric-oxide synthase activity;negative regulation of nitric-oxide synthase activity
• Cellular component: Golgi membrane;nucleus;cytoplasm;cytosol
• Molecular function: RNA binding;protein binding;ubiquitin protein ligase activity