NOL12

nucleolar protein 12

Basic information

Region (hg38): 22:37681673-37693476

Links

ENSG00000273899 ∙ NCBI:79159 ∙ ∙ HGNC:28585 ∙ Uniprot:Q9UGY1 ∙ 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 NOL12 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NOL12 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	2	1	24
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	1

Variants in NOL12

This is a list of pathogenic ClinVar variants found in the NOL12 region.

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

Position	Type	Phenotype	Significance	ClinVar
22-37686410-G-C		not specified	Uncertain significance (Feb 05, 2025)
22-37686414-A-C		not specified	Uncertain significance (May 09, 2024)
22-37686435-C-G		not specified	Uncertain significance (Mar 22, 2023)
22-37686444-C-A		not specified	Uncertain significance (Aug 20, 2024)
22-37686457-T-C		not specified	Uncertain significance (Jan 22, 2024)
22-37687935-C-T		not specified	Uncertain significance (Dec 08, 2023)
22-37687940-G-C		not specified	Uncertain significance (Jan 30, 2024)
22-37687941-G-A		not specified	Uncertain significance (Jul 12, 2023)
22-37687948-G-A		not specified	Uncertain significance (Jun 01, 2023)
22-37688334-T-C		not specified	Uncertain significance (Apr 20, 2023)
22-37688339-G-A		not specified	Uncertain significance (Mar 07, 2025)
22-37688903-T-C			Benign (Jul 13, 2018)
22-37688928-C-T		not specified	Uncertain significance (Nov 21, 2024)
22-37688967-G-A		not specified	Uncertain significance (Jan 17, 2025)
22-37688975-G-A		not specified	Uncertain significance (Aug 22, 2023)
22-37690737-C-T		not specified	Likely benign (Aug 17, 2021)
22-37690772-A-G		not specified	Uncertain significance (Mar 28, 2023)
22-37691177-C-G		not specified	Uncertain significance (Dec 04, 2024)
22-37691219-G-T		not specified	Uncertain significance (May 31, 2023)
22-37691239-G-A		not specified	Likely benign (Dec 02, 2024)
22-37691265-C-T		not specified	Uncertain significance (Apr 04, 2024)
22-37691295-C-T		not specified	Uncertain significance (Jul 07, 2024)
22-37691299-G-A		not specified	Uncertain significance (Jan 23, 2023)
22-37691301-C-T		not specified	Uncertain significance (May 25, 2022)
22-37691327-C-G		not specified	Uncertain significance (Mar 21, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May bind to 28S rRNA. {ECO:0000250}.

Recessive Scores

• pRec: 0.208

Intolerance Scores

• loftool: 0.239
• rvis_EVS: -0.03
• rvis_percentile_EVS: 51.66

Haploinsufficiency Scores

• pHI: 0.541
• hipred: N
• hipred_score: 0.207

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.829

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Nol12

Gene ontology

• Biological process: rRNA processing;nucleolus organization;positive regulation of cell population proliferation;positive regulation of cell growth;negative regulation of apoptotic process
• Cellular component: nucleolus
• Molecular function: single-stranded DNA binding;RNA binding;protein binding;rRNA binding