REXO5

protein-coding

RNA exonuclease 5

Gene summary

Predicted to enable exonuclease activity. Predicted to be involved in rRNA 3'-end processing. Located in nucleolus. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_030941.3

Inheritance

—

ClinVar variants

U:20B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.6

Max pathogenic AF

—

Genomic locus

chr16:20,806,429-20,849,665

External References & Databases

Ensembl (ENSG00000005189)

Transcript & Mutation Effects

hg38 • Region Span ~43.2 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 REXO5 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 11

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_030941.3. 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						0
missense			15 clinvar	1 clinvar		16
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	20	1	0	21

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 57 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_030941.3	RefSeq	NP_112203.2	19	MANE Select
ENST00000261377.11	Ensembl	ENSP00000261377.6	19	MANE Select
NM_001144924.2	RefSeq	NP_001138396.1	18	Standard
NM_001199053.2	RefSeq	NP_001185982.1	19	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Ribosome biogenesis in eukaryotes - Homo sapiens (human)

Biological Process

nucleic acid phosphodiester bond hydrolysis

Molecular Function

RNA binding
exonuclease activity

Cellular Component

nucleolus
extracellular exosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000261377
Coding exons: 19
Length: 43237
Individuals with no LoFs: 125687
Homozygous LoFs: 0
Heterozygous LoFs: 61
Defined: 125748
p: 0.000243

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.55	315	403	0.782	0.0000201	5043
Missense (PolyPhen)		70	102.92	0.68013		1360
Synonymous	0.209	150	153	0.979	0.00000773	1514
Loss of Function	2.26	23	38.1	0.604	0.00000167	504

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00032	0.00031	rare
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00088	0.00087	rare
Finnish	0.000094	0.000092	rare
European (Non-Finnish)	0.00029	0.00029	rare
South Asian	0.00010	0.000098	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Essentials

Essential (gene trap): N