NOSIP

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

Basic information

Region (hg38): 19:49555468-49590262

Links

ENSG00000142546NCBI:51070OMIM:616759HGNC:17946Uniprot:Q9Y314AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

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
clinvar
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)3880462
19-49556340-G-C not specified Uncertain significance (Feb 07, 2025)3880460
19-49556400-C-T not specified Uncertain significance (Jun 05, 2024)3300417
19-49556409-G-A not specified Uncertain significance (Jan 03, 2025)3880461
19-49556423-C-T not specified Uncertain significance (Mar 07, 2025)3880459
19-49556556-G-A not specified Uncertain significance (Dec 09, 2023)3201343
19-49556690-G-C not specified Uncertain significance (Dec 13, 2023)3201342
19-49556702-G-A not specified Uncertain significance (May 04, 2023)2521814
19-49556709-C-G not specified Uncertain significance (May 21, 2024)3300420
19-49556714-A-G not specified Uncertain significance (Dec 27, 2023)3201341
19-49556729-G-A not specified Uncertain significance (Mar 25, 2024)3300416
19-49556988-C-T not specified Uncertain significance (Mar 31, 2023)2531741
19-49557095-C-A not specified Uncertain significance (Jan 26, 2022)2273666
19-49557108-G-A not specified Uncertain significance (Jul 14, 2021)2236996
19-49557116-G-A not specified Uncertain significance (May 10, 2024)3300419
19-49557132-G-T not specified Uncertain significance (Apr 22, 2022)2285118
19-49557144-C-G not specified Uncertain significance (Dec 10, 2024)3406806
19-49557158-T-C not specified Uncertain significance (Nov 10, 2022)2326057
19-49557210-T-C not specified Uncertain significance (Jan 17, 2024)3201340
19-49557225-G-A not specified Uncertain significance (Dec 19, 2023)3201339
19-49558953-C-T not specified Uncertain significance (Sep 10, 2024)3406805
19-49558955-C-T not specified Uncertain significance (Oct 10, 2023)3201338
19-49559947-C-T not specified Uncertain significance (Jan 23, 2024)3201337
19-49559964-G-A not specified Uncertain significance (Dec 02, 2021)2263096
19-49583553-G-A not specified Uncertain significance (Mar 01, 2023)2462937

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
NOSIPprotein_codingprotein_codingENST00000391853 834552
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.00001260.8431256660401257060.000159
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense2.111292170.5960.00001551908
Missense in Polyphen1954.460.34888498
Synonymous1.986993.40.7390.00000675615
Loss of Function1.381015.90.6279.13e-7164

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0005630.000543
Ashkenazi Jewish0.00009960.0000992
East Asian0.0001100.000109
Finnish0.00004720.0000462
European (Non-Finnish)0.0001100.000106
Middle Eastern0.0001100.000109
South Asian0.0003990.000392
Other0.000.00

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Nosip
Phenotype

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