STAU1

staufen double-stranded RNA binding protein 1, the group of Protein phosphatase 1 regulatory subunits

Basic information

Region (hg38): 20:49113339-49188367

Previous symbols: [ "STAU" ]

Links

ENSG00000124214 ∙ NCBI:6780 ∙ OMIM:601716 ∙ HGNC:11370 ∙ Uniprot:O95793 ∙ 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 STAU1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the STAU1 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			26	1		27
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	26	1	1

Variants in STAU1

This is a list of pathogenic ClinVar variants found in the STAU1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
20-49115816-C-T		not specified	Uncertain significance (Jan 02, 2025)
20-49115863-G-A		not specified	Uncertain significance (Sep 06, 2022)
20-49117166-C-A		not specified	Uncertain significance (Sep 30, 2024)
20-49117168-G-C		not specified	Uncertain significance (Jul 27, 2024)
20-49117821-G-A		not specified	Uncertain significance (Sep 02, 2024)
20-49117827-T-C		not specified	Uncertain significance (Jan 27, 2025)
20-49117838-T-C		not specified	Uncertain significance (Aug 02, 2021)
20-49117875-T-C		not specified	Uncertain significance (Jul 06, 2021)
20-49117926-T-A		not specified	Uncertain significance (Feb 28, 2023)
20-49117940-G-T		not specified	Uncertain significance (Apr 19, 2023)
20-49117955-G-A		not specified	Uncertain significance (Sep 24, 2024)
20-49117970-A-G		not specified	Uncertain significance (Aug 31, 2022)
20-49118357-C-T		not specified	Uncertain significance (Mar 03, 2025)
20-49120025-G-A		not specified	Uncertain significance (May 27, 2022)
20-49120067-T-G		not specified	Uncertain significance (Dec 19, 2022)
20-49120071-G-A		not specified	Uncertain significance (Feb 22, 2025)
20-49123123-C-G		not specified	Uncertain significance (May 09, 2023)
20-49123208-C-T		not specified	Uncertain significance (Jun 17, 2024)
20-49123226-T-G		not specified	Uncertain significance (Mar 02, 2023)
20-49124540-C-G		not specified	Uncertain significance (Jan 24, 2024)
20-49124560-T-A		not specified	Uncertain significance (Mar 21, 2024)
20-49135856-G-A		not specified	Uncertain significance (Apr 23, 2024)
20-49135897-T-C		not specified	Uncertain significance (Dec 16, 2023)
20-49151602-G-A		not specified	Uncertain significance (Feb 19, 2025)
20-49153924-A-C			Benign (Dec 31, 2019)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
STAU1	protein_coding	protein_coding	ENST00000371856	12	75027

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.000235	125711	0	1	125712	0.00000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.93	225	323	0.698	0.0000175	3761
Missense in Polyphen		83	138.14	0.60082		1561
Synonymous	-0.971	141	127	1.11	0.00000790	1143
Loss of Function	4.76	1	28.3	0.0353	0.00000155	340

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000879	0.00000879
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Binds double-stranded RNA (regardless of the sequence) and tubulin. May play a role in specific positioning of mRNAs at given sites in the cell by cross-linking cytoskeletal and RNA components, and in stimulating their translation at the site.

Recessive Scores

• pRec: 0.171

Intolerance Scores

• loftool: 0.0856
• rvis_EVS: -0.31
• rvis_percentile_EVS: 31.93

Haploinsufficiency Scores

• pHI: 0.357
• hipred: Y
• hipred_score: 0.783
• ghis: 0.583

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: H
• gene_indispensability_pred: E
• gene_indispensability_score: 0.972

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Stau1
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan)

Gene ontology

• Biological process: cellular response to oxidative stress;positive regulation of viral genome replication;positive regulation by virus of viral protein levels in host cell;modification of postsynaptic structure;positive regulation of long-term synaptic potentiation
• Cellular component: cytoplasm;endoplasmic reticulum;rough endoplasmic reticulum;cytosol;microtubule associated complex;plasma membrane;cytoplasmic stress granule;membrane;dendrite;cytoplasmic ribonucleoprotein granule;neuronal cell body;cell body;extracellular exosome;glutamatergic synapse
• Molecular function: RNA binding;double-stranded RNA binding;protein binding;protein phosphatase 1 binding