REXO5

RNA exonuclease 5

Basic information

Region (hg38): 16:20806429-20849665

Links

ENSG00000005189 ∙ NCBI:81691 ∙ ∙ HGNC:24661 ∙ Uniprot:Q96IC2 ∙ 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 REXO5 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the REXO5 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			10	1		11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	10	1	0

Variants in REXO5

This is a list of pathogenic ClinVar variants found in the REXO5 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-20814964-G-A		not specified	Uncertain significance (Aug 12, 2021)
16-20816143-G-A		not specified	Likely benign (Oct 12, 2021)
16-20816198-C-T		not specified	Uncertain significance (Nov 12, 2021)
16-20821882-C-T		not specified	Uncertain significance (Aug 09, 2021)
16-20825888-G-T		not specified	Uncertain significance (Nov 09, 2021)
16-20833004-G-A		not specified	Uncertain significance (Jun 18, 2021)
16-20840358-A-G		not specified	Uncertain significance (Aug 04, 2021)
16-20844674-G-A		not specified	Uncertain significance (Aug 30, 2021)
16-20845143-A-G		not specified	Uncertain significance (Jul 20, 2021)
16-20845198-G-T		not specified	Uncertain significance (Jun 18, 2021)
16-20849400-A-T		not specified	Uncertain significance (Sep 30, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
REXO5	protein_coding	protein_coding	ENST00000261377	19	43237

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.80e-11	0.972	125687	0	61	125748	0.000243

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.55	315	403	0.782	0.0000201	5043
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000344	0.000337
Ashkenazi Jewish	0.00	0.00
East Asian	0.000880	0.000870
Finnish	0.0000936	0.0000924
European (Non-Finnish)	0.000293	0.000290
Middle Eastern	0.000880	0.000870
South Asian	0.000101	0.0000980
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

• Pathway: Ribosome biogenesis in eukaryotes - Homo sapiens (human) (Consensus)

Haploinsufficiency Scores

• ghis: 0.430

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Rexo5

Gene ontology

• Biological process: nucleic acid phosphodiester bond hydrolysis
• Cellular component: nucleolus;extracellular exosome
• Molecular function: RNA binding;exonuclease activity