EXOSC7

protein-coding

exosome component 7, the group of Exosome complex

Gene summary

Predicted to enable mRNA 3'-UTR AU-rich region binding activity. Involved in RNA catabolic process and RNA processing. Located in cytosol; nuclear speck; and nucleolus. Part of exosome (RNase complex). [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_015004.4

Inheritance

—

ClinVar variants

U:48

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.64

Max pathogenic AF

—

Genomic locus

chr3:44,975,241-45,036,066

External References & Databases

Transcript & Mutation Effects

hg38 • Region Span ~60.8 kb
Loading mutation effect viewer...

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 EXOSC7 variants in ClinVar

1 Conditions Cataloged
not specifiedTotal: 42

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_015004.4. 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.

EffectPLPVUSLBBSum
synonymous
0
missense
47
clinvar
47
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
1
clinvar
1
Total00480048
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 48 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_015004.4RefSeqNP_055819.28MANE Select
ENST00000265564.8EnsemblENSP00000265564.78MANE Select
ENST00000864641.1EnsemblENSP00000534700.17Standard
ENST00000864641.2EnsemblENSP00000534700.17Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

  • RNA degradation - Homo sapiens (human)
  • Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA
  • KSRP (KHSRP) binds and destabilizes mRNA
  • Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA
  • Metabolism of RNA

Biological Process

  • exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)
  • rRNA processing
  • RNA catabolic process
  • rRNA catabolic process
  • nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5'

Molecular Function

  • 3'-5'-exoribonuclease activity
  • RNA binding
  • exoribonuclease activity
  • protein binding
  • AU-rich element binding

Cellular Component

  • nuclear exosome (RNase complex)
  • cytoplasmic exosome (RNase complex)
  • exosome (RNase complex)
  • nucleoplasm
  • nucleolus

gnomAD Constraint

Source: gnomAD

Gene type
protein_coding
Transcript type
protein_coding
Transcript
ENST00000265564
Coding exons
8
Length
60826
Individuals with no LoFs
125683
Homozygous LoFs
0
Heterozygous LoFs
65
Defined
125748
p
0.000258
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense-0.2371751661.050.000009131880
Missense (PolyPhen)4141.5780.98609455
Synonymous1.435165.80.7750.00000380569
Loss of Function1.301015.50.6449.05e-7179

Population LoF Frequency

PopulationCAFp-valueStatus
African0.000500.00049rare
Latino/Admixed American0.0000590.000058rare
Ashkenazi Jewish0.000200.00020rare
East Asian0.000110.00011rare
Finnish0.0000460.000046rare
European (Non-Finnish)0.000350.00035rare
South Asian0.000330.00033rare
Other00.0absent

dbNSFP Gene Annotations

Source: dbNSFP

Function
FUNCTION: Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytoplasm. The RNA exosome may be involved in Ig class switch recombination (CSR) and/or Ig variable region somatic hypermutation (SHM) by targeting AICDA deamination activity to transcribed dsDNA substrates. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA. The catalytic inactive RNA exosome core complex of 9 subunits (Exo-9) is proposed to play a pivotal role in the binding and presentation of RNA for ribonucleolysis, and to serve as a scaffold for the association with catalytic subunits and accessory proteins or complexes.;

Recessive Scores

pRec
0.269

Intolerance Scores

LoFtool
0.827
RVIS EVS
-0.03
RVIS percentile EVS
51.92

Essentials

Essential (CRISPR)
E
Essential (CRISPR2)
E
Essential (gene trap)
E
Indispensability pred.
E
Indispensability score
0.958

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium
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