NXPH3

neurexophilin 3

Basic information

Region (hg38): 17:49575871-49583827

Links

ENSG00000182575NCBI:11248OMIM:604636HGNC:8077Uniprot:O95157AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the NXPH3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NXPH3 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
21
clinvar
2
clinvar
23
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 21 2 0

Variants in NXPH3

This is a list of pathogenic ClinVar variants found in the NXPH3 region.

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

Position Type Phenotype Significance ClinVar
17-49578603-G-A not specified Uncertain significance (May 26, 2022)2399540
17-49578626-G-A not specified Uncertain significance (Dec 16, 2024)3882095
17-49578630-C-T not specified Uncertain significance (Feb 21, 2024)3203560
17-49578635-G-A not specified Uncertain significance (Dec 20, 2021)2268429
17-49578656-G-A not specified Likely benign (Apr 07, 2023)2535049
17-49578669-G-A not specified Uncertain significance (Feb 12, 2024)3203553
17-49578675-G-A not specified Uncertain significance (Oct 25, 2022)2318893
17-49578753-C-T not specified Uncertain significance (Mar 26, 2024)3301745
17-49578773-A-G not specified Likely benign (Dec 16, 2023)3203554
17-49578779-G-A not specified Uncertain significance (Dec 14, 2023)3203555
17-49578785-C-T not specified Uncertain significance (Jul 09, 2021)2367457
17-49578795-G-A not specified Uncertain significance (Feb 03, 2022)3203556
17-49578807-G-A not specified Uncertain significance (Jul 15, 2021)2222749
17-49578851-G-A not specified Uncertain significance (Jun 06, 2023)2509959
17-49578878-G-A not specified Uncertain significance (Aug 12, 2021)2325397
17-49578909-T-C not specified Uncertain significance (Oct 17, 2023)3203557
17-49578912-A-G not specified Uncertain significance (Aug 08, 2023)2617295
17-49578935-G-A not specified Uncertain significance (Feb 05, 2024)3203558
17-49579094-G-A not specified Uncertain significance (Jun 21, 2022)2296055
17-49579133-A-G not specified Uncertain significance (Jun 13, 2022)2295452
17-49579181-C-A not specified Uncertain significance (Aug 01, 2024)3409110
17-49579196-G-A not specified Uncertain significance (Apr 08, 2022)2282781
17-49579263-A-G not specified Uncertain significance (Feb 15, 2023)2485408
17-49579278-C-G not specified Uncertain significance (Nov 17, 2023)3203559

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
NXPH3protein_codingprotein_codingENST00000328741 27970
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.2840.696125730031257330.0000119
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.5631401600.8750.00001051632
Missense in Polyphen4661.7240.74525687
Synonymous2.114465.80.6690.00000424513
Loss of Function1.9627.980.2514.28e-785

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.00005440.0000544
Finnish0.000.00
European (Non-Finnish)0.000008790.00000879
Middle Eastern0.00005440.0000544
South Asian0.00003270.0000327
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: May be signaling molecules that resemble neuropeptides. Ligand for alpha-neurexins (By similarity). {ECO:0000250}.;

Recessive Scores

pRec
0.104

Intolerance Scores

loftool
0.0581
rvis_EVS
-0.14
rvis_percentile_EVS
43.29

Haploinsufficiency Scores

pHI
0.160
hipred
N
hipred_score
0.429
ghis
0.611

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.283

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Nxph3
Phenotype
behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); normal phenotype;

Gene ontology

Biological process
neuropeptide signaling pathway
Cellular component
extracellular region
Molecular function
molecular_function;signaling receptor binding