GeneBe

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.

  • not_specified (35 variants)

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. These statistics are base on transcript: NM_001270960.2. 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.

EffectPLPVUSLBBSum
synonymous
0
missense
35
clinvar
 35
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 35 0 0
Loading clinvar variants...

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