REXO2

RNA exonuclease 2, the group of Exonucleases

Basic information

Region (hg38): 11:114439435-114450279

Links

ENSG00000076043

∙ NCBI:25996 ∙ OMIM:607149 ∙ HGNC:17851 ∙ Uniprot:Q9Y3B8 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

sporadic pheochromocytoma (Limited), mode of inheritance: AD

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the REXO2 gene.

not_specified (19 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the REXO2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000015523.4. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			18 clinvar	1 clinvar		19
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	18	1	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
REXO2	protein_coding	protein_coding	ENST00000265881	7	10894

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0232	0.964	125729	0	17	125746	0.0000676

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.01	93	125	0.746	0.00000585	1569
Missense in Polyphen		25	42.409	0.5895		542
Synonymous	0.174	42	43.5	0.966	0.00000207	424
Loss of Function	2.17	5	13.6	0.367	7.60e-7	158

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000189	0.000185
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000466	0.0000462
European (Non-Finnish)	0.000108	0.000105
Middle Eastern	0.00	0.00
South Asian	0.0000333	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: 3'-to-5' exoribonuclease specific for small oligoribonucleotides. Active on small (primarily </=5 nucleotides in length) single-stranded RNA and DNA oligomers. May have a role in cellular nucleotide recycling. {ECO:0000269|PubMed:23741365}.;
Pathway: Ribosome biogenesis in eukaryotes - Homo sapiens (human) (Consensus)

Recessive Scores

pRec: 0.177

Intolerance Scores

loftool: 0.477
rvis_EVS: -0.07
rvis_percentile_EVS: 48.12

Haploinsufficiency Scores

pHI: 0.363
hipred: Y
hipred_score: 0.699
ghis: 0.559

Essentials

essential_gene_CRISPR: E
essential_gene_CRISPR2: E
essential_gene_gene_trap: H
gene_indispensability_pred: N
gene_indispensability_score: 0.387

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Rexo2
Phenotype: homeostasis/metabolism 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);

Gene ontology

Biological process: nucleobase-containing compound metabolic process;nucleotide metabolic process;RNA phosphodiester bond hydrolysis, exonucleolytic
Cellular component: nucleus;nucleolus;mitochondrion;mitochondrial intermembrane space;mitochondrial matrix;focal adhesion
Molecular function: 3'-5'-exoribonuclease activity;nucleic acid binding;3'-5' exonuclease activity