REXO1

RNA exonuclease 1 homolog, the group of MicroRNA protein coding host genes|Exonucleases

Basic information

Region (hg38): 19:1815248-1848483

Previous symbols: [ "TCEB3BP1" ]

Links

ENSG00000079313 ∙ NCBI:57455 ∙ OMIM:609614 ∙ HGNC:24616 ∙ Uniprot:Q8N1G1 ∙ 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 REXO1 gene.

• not_specified (262 variants)
• not_provided (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the REXO1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000020695.4. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1	1	2
missense			245	16	2	263
nonsense						0
start loss						0
frameshift			1			1
splice donor/acceptor (+/-2bp)						0
Total	0	0	246	17	3

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
REXO1	protein_coding	protein_coding	ENST00000170168	16	33205

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.986	0.0136	125524	0	22	125546	0.0000876

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.198	756	741	1.02	0.0000523	7682
Missense in Polyphen		178	227.89	0.78108		2521
Synonymous	-4.22	438	339	1.29	0.0000265	2604
Loss of Function	4.94	6	39.5	0.152	0.00000191	520

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000459	0.000459
Ashkenazi Jewish	0.000100	0.0000994
East Asian	0.00	0.00
Finnish	0.000114	0.0000924
European (Non-Finnish)	0.0000637	0.0000617
Middle Eastern	0.00	0.00
South Asian	0.000137	0.000131
Other	0.000167	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Seems to have no detectable effect on transcription elongation in vitro. {ECO:0000269|PubMed:12943681}.
• Pathway: Ribosome biogenesis in eukaryotes - Homo sapiens (human) (Consensus)

Recessive Scores

• pRec: 0.106

Intolerance Scores

• loftool: 0.297
• rvis_EVS: -1.36
• rvis_percentile_EVS: 4.54

Haploinsufficiency Scores

• pHI: 0.223
• hipred: N
• hipred_score: 0.373
• ghis: 0.613

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.875

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

• Gene name: Rexo1

Gene ontology

• Biological process: nucleic acid phosphodiester bond hydrolysis
• Cellular component: nucleoplasm;nuclear body
• Molecular function: nucleic acid binding;exonuclease activity