NOL8

protein-coding

nucleolar protein 8, the group of RNA binding motif containing

Gene summary

NOL8 binds Ras-related GTP-binding proteins (see MIM 608267) and plays a role in cell growth (Sekiguchi et al., 2004 [PubMed 14660641]).[supplied by OMIM, Mar 2008]

Previous symbols:

C9orf34

MANE transcript

NM_017948.6

Inheritance

—

ClinVar variants

U:168B:13

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.6

Max pathogenic AF

—

Genomic locus

chr9:92,297,358-92,325,636

External References & Databases

Ensembl (ENSG00000198000)

Transcript & Mutation Effects

hg38 • Region Span ~28.3 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to NOL8 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 173

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_017948.6. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar			1
missense			161 clinvar	13 clinvar		174
nonsense						0
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			5 clinvar			5
Total	0	0	168	13	0	181

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 46 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_017948.6	RefSeq	NP_060418.4	16	MANE Select
ENST00000442668.7	Ensembl	ENSP00000401177.2	16	MANE Select
NM_001256394.2	RefSeq	NP_001243323.1	14	Standard
NM_001330722.2	RefSeq	NP_001317651.1	15	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

rRNA processing
protein localization to nucleolus

Molecular Function

RNA binding
protein binding

Cellular Component

nucleus
nucleolus
ribonucleoprotein complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000545558
Coding exons: 16
Length: 28279
Individuals with no LoFs: 124597
Homozygous LoFs: 0
Heterozygous LoFs: 43
Defined: 124640
p: 0.000173

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.438	557	587	0.949	0.0000301	7763
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00033	0.00032	rare
Latino/Admixed American	0.00012	0.00012	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00022	0.00022	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00022	0.00021	rare
South Asian	0.00018	0.00016	rare
Other	0.00017	0.00017	rare

dbNSFP Gene Annotations

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

Essentials

Essential (CRISPR): E
Essential (CRISPR2): E
Essential (gene trap): E
Indispensability pred.: E
Indispensability score: 0.658

Gene Damage Prediction

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