Home > Gene Browser > STAU1
STAU1
- Synonyms
- PPP1R150, STAU
- External resources
- NCBI6780
- OMIM601716
- EnsemblENSG00000124214
- HGNCHGNC:11370
- Summary
- Staufen is a member of the family of double-stranded RNA (dsRNA)-binding proteins involved in the transport and/or localization of mRNAs to different subcellular compartments and/or organelles. These proteins are characterized by the presence of multiple dsRNA-binding domains which are required to bind RNAs having double-stranded secondary structures. The human homologue of staufen encoded by STAU, in addition contains a microtubule- binding domain similar to that of microtubule-associated protein 1B, and binds tubulin. The STAU gene product has been shown to be present in the cytoplasm in association with the rough endoplasmic reticulum (RER), implicating this protein in the transport of mRNA via the microtubule network to the RER, the site of translation. Five transcript variants resulting from alternative splicing of STAU gene and encoding three isoforms have been described. Three of these variants encode the same isoform, however, differ in their 5'UTR.
Variant counts
Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.
- Pathogenic
- 8
- Likely pathogenic
- 5
- VUS
- 5,051
- Likely benign
- 204
- Benign
- 0
Patient phenotypes
Proportions of phenotypes among 13 patients carring pathogenic or likely pathogenic variants on STAU1 gene are displayed below.
- Phenotype class
- Patients in 3billion (%)
- Abnormality of the eye
- 38.5%
- Abnormality of the musculoskeletal system
- 38.5%
- Abnormality of the nervous system
- 30.8%
- Abnormality of head or neck
- 23.1%
- Abnormality of the integument
- 23.1%
- Growth abnormality
- 23.1%
- Abnormality of limbs
- 15.4%
- Abnormality of blood and blood-forming tissues
- 7.7%
- Abnormality of the cardiovascular system
- 7.7%
- Abnormality of the immune system
- 7.7%
- Abnormal cellular phenotype
- 0%
- Abnormality of metabolism homeostasis
- 0%
- Abnormality of prenatal development or birth
- 0%
- Abnormality of the breast
- 0%
- Abnormality of the digestive system
- 0%
- Abnormality of the ear
- 0%
- Abnormality of the endocrine system
- 0%
- Abnormality of the genitourinary system
- 0%
- Abnormality of the respiratory system
- 0%
- Abnormality of the thoracic cavity
- 0%
- Abnormality of the voice
- 0%
- Constitutional symptom
- 0%
- Neoplasm
- 0%
Have a question or need assistance? Ask here.
Send us your questions or comments related to the variant counts and/or patient phenotypes