NOSIP
Basic information
Region (hg38): 19:49555468-49590262
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
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:
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:
- 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
- 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