EXOSC9 Chromosome 4
Exosome component 9
Upload your DNA to see your personal genotypes for variants in EXOSC9.
What This Gene Does
This gene encodes a component of the human exosome, a exoribonuclease complex which processes and degrades RNA in the nucleus and cytoplasm. This component may play a role in mRNA degradation and the polymyositis/scleroderma autoantigen complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
Gene Info
Gene Group
Exosome complex
Locus Type
gene with protein product
Location
4q27
Ensembl
ENSG00000123737
Associated Conditions (8)
Familial pancreatic carcinoma
Uveal melanoma
See cases
Thymoma
Pontocerebellar hypoplasia
type 1D
Cerebral atrophy
Pontoneocerebellar hypoplasia
Key Variants
RS151134983
Conflicting classifications of pathogenicity
Familial pancreatic carcinoma, Uveal melanoma, Familial pancreatic carcinoma
Health Risk
RS754121759
Conflicting classifications of pathogenicity
See cases, See cases
Health Risk
RS1239223809
Likely pathogenic
Health Risk
RS1361964123
Likely pathogenic
Health Risk
RS1377012763
Likely pathogenic
Thymoma, Thymoma
Health Risk
RS753149983
Likely pathogenic
Health Risk
RS1176517015
Pathogenic
Health Risk
RS1305450307
Pathogenic
Health Risk
RS1310351331
Pathogenic
Health Risk
RS1337899996
Pathogenic
Health Risk
RS1385943891
Pathogenic
Health Risk
RS1453864069
Pathogenic
Health Risk
All Variants (30)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS151134983 | Health Risk | Conflicting classifications of pathogenicity | Familial pancreatic carcinoma, Uveal melanoma, Familial pancreatic carcinoma |
| RS754121759 | Health Risk | Conflicting classifications of pathogenicity | See cases, See cases |
| RS1239223809 | Health Risk | Likely pathogenic | — |
| RS1361964123 | Health Risk | Likely pathogenic | — |
| RS1377012763 | Health Risk | Likely pathogenic | Thymoma, Thymoma |
| RS753149983 | Health Risk | Likely pathogenic | — |
| RS1176517015 | Health Risk | Pathogenic | — |
| RS1305450307 | Health Risk | Pathogenic | — |
| RS1310351331 | Health Risk | Pathogenic | — |
| RS1337899996 | Health Risk | Pathogenic | — |
| RS1385943891 | Health Risk | Pathogenic | — |
| RS1453864069 | Health Risk | Pathogenic | — |
| RS1724367933 | Health Risk | Pathogenic | — |
| RS1726969482 | Health Risk | Pathogenic | Pontocerebellar hypoplasia, type 1D, Pontocerebellar hypoplasia |
| RS2149033494 | Health Risk | Pathogenic | Pontocerebellar hypoplasia, type 1D, Pontocerebellar hypoplasia |
| RS2149039114 | Health Risk | Pathogenic | — |
| RS2149039190 | Health Risk | Pathogenic | — |
| RS2476761119 | Health Risk | Pathogenic | — |
| RS2476761256 | Health Risk | Pathogenic | — |
| RS2476773637 | Health Risk | Pathogenic | — |
| RS747801924 | Health Risk | Pathogenic | — |
| RS750618265 | Health Risk | Pathogenic | — |
| RS763457015 | Health Risk | Pathogenic | — |
| RS765876840 | Health Risk | Pathogenic | — |
| RS772936359 | Health Risk | Pathogenic | — |
| RS778875319 | Health Risk | Pathogenic | — |
| RS781301648 | Health Risk | Pathogenic | Pontocerebellar hypoplasia, type 1D, Pontocerebellar hypoplasia |
| RS935979786 | Health Risk | Pathogenic | — |
| RS139632595 | Health Risk | Pathogenic/Likely pathogenic | Pontocerebellar hypoplasia, type 1D, Cerebral atrophy |
| RS372318863 | Health Risk | Pathogenic/Likely pathogenic | Pontocerebellar hypoplasia, type 1D, Pontocerebellar hypoplasia |