NBPF10

NBPF member 10, the group of NBPF members

Basic information

Region (hg38): 1:146064710-146229000

Links

ENSG00000271425 ∙ NCBI:100132406 ∙ OMIM:614000 ∙ HGNC:31992 ∙ Uniprot:Q6P3W6 ∙ 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 NBPF10 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NBPF10 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				11		11
missense				12	2	14
nonsense				1		1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				5	1	6
non coding				2		2
Total	0	0	0	26	2

Variants in NBPF10

This is a list of pathogenic ClinVar variants found in the NBPF10 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-146066405-G-A			Likely benign (Dec 01, 2022)
1-146066530-G-A			Benign (Oct 01, 2023)
1-146069535-G-C			Likely benign (Jul 01, 2023)
1-146069571-C-T			Likely benign (Jun 01, 2023)
1-146069650-T-G			Likely benign (Feb 01, 2024)
1-146077610-T-T			Likely benign (May 01, 2024)
1-146078278-T-C			Benign (Oct 01, 2023)
1-146079085-T-T			Likely benign (Aug 01, 2023)
1-146079091-C-A			Likely benign (Dec 01, 2022)
1-146079122-A-C			Likely benign (Nov 01, 2023)
1-146080645-T-C			Likely benign (May 01, 2024)
1-146107345-A-G			Likely benign (Sep 01, 2023)
1-146107462-C-T			Likely benign (Aug 01, 2022)
1-146107477-G-C			Likely benign (Dec 01, 2022)
1-146109763-G-C			Likely benign (Nov 01, 2023)
1-146109791-C-T			Likely benign (Aug 01, 2023)
1-146112138-C-G			Likely benign (Dec 01, 2023)
1-146112172-C-T			Likely benign (Aug 01, 2022)
1-146125486-T-A			Likely benign (Jul 01, 2023)
1-146126258-A-T			Likely benign (Feb 01, 2023)
1-146126300-C-T			Likely benign (Apr 01, 2022)
1-146126334-G-C			Likely benign (Aug 01, 2023)
1-146128149-G-T			Likely benign (Sep 01, 2022)
1-146128290-G-A			Likely benign (Jan 01, 2024)
1-146133633-T-C			Likely benign (Jan 01, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.164

Essentials

• essential_gene_CRISPR: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.143

Gene Damage Prediction

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

Gene ontology

• Cellular component: cytoplasm
• Molecular function: RNA binding