NBPF15

NBPF member 15, the group of NBPF members

Basic information

Region (hg38): 1:144421390-144461676

Previous symbols: [ "NBPF16" ]

Links

ENSG00000266338 ∙ NCBI:284565 ∙ OMIM:610414 ∙ HGNC:28791 ∙ Uniprot:Q8N660 ∙ 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 NBPF15 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NBPF15 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				2		2
missense			75	10		85
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	75	12	0

Variants in NBPF15

This is a list of pathogenic ClinVar variants found in the NBPF15 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-144423021-G-T		not specified	Uncertain significance (Sep 17, 2021)
1-144423035-A-T		not specified	Uncertain significance (Jul 20, 2022)
1-144423045-C-T		not specified	Uncertain significance (May 24, 2023)
1-144423048-G-C		not specified	Uncertain significance (Apr 22, 2024)
1-144423059-G-C		not specified	Uncertain significance (Aug 23, 2021)
1-144423063-C-T		not specified	Uncertain significance (Feb 25, 2025)
1-144423065-G-A		not specified	Uncertain significance (May 26, 2024)
1-144423080-C-T		not specified	Uncertain significance (Jun 03, 2024)
1-144423084-T-A		not specified	Uncertain significance (Feb 06, 2024)
1-144423090-C-T		not specified	Uncertain significance (Feb 28, 2023)
1-144423096-G-C		not specified	Uncertain significance (Dec 28, 2024)
1-144423098-G-A		not specified	Uncertain significance (Oct 14, 2023)
1-144423099-C-G		not specified	Uncertain significance (Jul 25, 2024)
1-144423099-C-T		not specified	Uncertain significance (Sep 15, 2021)
1-144423109-A-T		not specified	Uncertain significance (Nov 05, 2021)
1-144423114-C-G		not specified	Likely benign (Jan 24, 2025)
1-144423120-C-G		not specified	Uncertain significance (Nov 25, 2024)
1-144423135-C-G		not specified	Uncertain significance (Dec 27, 2023)
1-144423135-C-T		not specified	Uncertain significance (Aug 12, 2024)
1-144423137-C-A		not specified	Uncertain significance (Nov 25, 2024)
1-144423138-T-G		not specified	Uncertain significance (Jan 03, 2024)
1-144423143-T-C		not specified	Uncertain significance (May 02, 2024)
1-144423188-G-A		not specified	Uncertain significance (Oct 25, 2023)
1-144423192-A-G		not specified	Uncertain significance (Nov 11, 2024)
1-144423197-C-A		not specified	Uncertain significance (Mar 06, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.187

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0317

Gene Damage Prediction

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

Gene ontology

• Cellular component: cytoplasm