NOL8

nucleolar protein 8, the group of RNA binding motif containing

Basic information

Region (hg38): 9:92297358-92325636

Previous symbols: [ "C9orf34" ]

Links

ENSG00000198000 ∙ NCBI:55035 ∙ OMIM:611534 ∙ HGNC:23387 ∙ Uniprot:Q76FK4 ∙ 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 NOL8 gene.

• not_specified (151 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NOL8 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000017948.6. 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			139	12		151
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	139	12	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NOL8	protein_coding	protein_coding	ENST00000545558	16	28279

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.76e-13	0.986	124597	0	43	124640	0.000173

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.438	557	587	0.949	0.0000301	7763
Missense in Polyphen		92	111.62	0.82425		1666
Synonymous	0.932	192	209	0.918	0.0000111	2077
Loss of Function	2.52	28	46.5	0.602	0.00000235	681

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000451	0.000441
Ashkenazi Jewish	0.00	0.00
East Asian	0.000223	0.000223
Finnish	0.00	0.00
European (Non-Finnish)	0.000218	0.000212
Middle Eastern	0.000223	0.000223
South Asian	0.000181	0.000163
Other	0.000170	0.000165

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays an essential role in the survival of diffuse-type gastric cancer cells. Acts as a nucleolar anchoring protein for DDX47. May be involved in regulation of gene expression at the post-transcriptional level or in ribosome biogenesis in cancer cells. {ECO:0000269|PubMed:14660641, ECO:0000269|PubMed:15132771, ECO:0000269|PubMed:16963496}.

Recessive Scores

• pRec: 0.0828

Intolerance Scores

• loftool: 0.346
• rvis_EVS: 1.87
• rvis_percentile_EVS: 97.22

Haploinsufficiency Scores

• pHI: 0.320
• hipred: N
• hipred_score: 0.245
• ghis: 0.493

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.658

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Nol8
• Phenotype: hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); growth/size/body region phenotype; homeostasis/metabolism phenotype

Gene ontology

• Biological process: rRNA processing;protein localization to nucleolus
• Cellular component: nucleus;nucleolus;ribonucleoprotein complex
• Molecular function: RNA binding;protein binding