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

Transcripts

Transcript IDs starting with ENST are treated as Ensembl, all others as RefSeq. Showing 4 of 5.

Transcript ID	Protein ID	Coding exons	MANE Select	MANE Plus Clinical
NM_024313.3	NP_077289.1	6	yes	-
ENST00000359114.9	ENSP00000352021.4	6	yes	-
ENST00000438329.5	ENSP00000403059.1	6	-	-
ENST00000611699.1	ENSP00000482349.1	6	-	-

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the NOL12 gene.

• not_specified (43 variants)
• not_provided (1 variants)

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. These statistics are base on transcript: NM_024313.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			42	2	1	45
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			4			4
Total	0	0	46	2	1

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

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

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