STAU2

staufen double-stranded RNA binding protein 2

Basic information

Region (hg38): 8:73420368-73747708

Links

ENSG00000040341 ∙ NCBI:27067 ∙ OMIM:605920 ∙ HGNC:11371 ∙ Uniprot:Q9NUL3 ∙ 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 STAU2 gene.

• Inborn genetic diseases (16 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the STAU2 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					1	1
missense			16		1	17
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	16	0	2

Variants in STAU2

This is a list of pathogenic ClinVar variants found in the STAU2 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-73421407-C-T		not specified	Uncertain significance (Aug 04, 2023)
8-73421410-T-C		not specified	Uncertain significance (Dec 27, 2022)
8-73421422-G-A		not specified	Uncertain significance (Oct 16, 2023)
8-73422626-C-A		not specified	Uncertain significance (Sep 12, 2023)
8-73422695-A-G		not specified	Uncertain significance (Dec 28, 2023)
8-73552037-T-C		not specified	Uncertain significance (Oct 06, 2022)
8-73552085-G-C		not specified	Uncertain significance (Nov 14, 2023)
8-73552118-G-T		not specified	Uncertain significance (Mar 24, 2023)
8-73552133-A-G		not specified	Uncertain significance (Oct 05, 2021)
8-73552149-C-T		not specified	Uncertain significance (Oct 26, 2022)
8-73552152-T-C		not specified	Uncertain significance (Apr 07, 2023)
8-73552155-T-C		not specified	Uncertain significance (Dec 28, 2022)
8-73552217-T-C		not specified	Uncertain significance (Jun 09, 2022)
8-73552262-C-T		not specified	Uncertain significance (Dec 01, 2022)
8-73552293-G-A		not specified	Uncertain significance (Dec 07, 2023)
8-73595225-C-T		not specified	Uncertain significance (Feb 23, 2023)
8-73595234-C-A		not specified	Uncertain significance (Mar 16, 2022)
8-73595249-T-C		not specified	Uncertain significance (Dec 28, 2022)
8-73595287-C-A			Benign (Aug 16, 2018)
8-73603824-G-A		not specified	Uncertain significance (May 23, 2023)
8-73613766-T-C		not specified	Uncertain significance (Feb 28, 2023)
8-73613846-G-A			Benign (Jun 29, 2018)
8-73688702-G-A			Uncertain significance (-)
8-73688708-T-C		not specified	Uncertain significance (Dec 28, 2022)
8-73688713-T-G		not specified	Uncertain significance (Feb 17, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
STAU2	protein_coding	protein_coding	ENST00000524300	12	327340

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.973	0.0273	125726	0	8	125734	0.0000318

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.42	229	298	0.768	0.0000154	3720
Missense in Polyphen		74	123.08	0.60123		1532
Synonymous	0.248	101	104	0.969	0.00000552	1099
Loss of Function	4.28	4	28.7	0.139	0.00000156	363

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000292	0.0000292
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000441	0.0000440
Middle Eastern	0.00	0.00
South Asian	0.0000656	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: RNA-binding protein required for the microtubule- dependent transport of neuronal RNA from the cell body to the dendrite. As protein synthesis occurs within the dendrite, the localization of specific mRNAs to dendrites may be a prerequisite for neurite outgrowth and plasticity at sites distant from the cell body (By similarity). {ECO:0000250|UniProtKB:Q68SB1}.

Recessive Scores

• pRec: 0.115

Intolerance Scores

• loftool: 0.395
• rvis_EVS: 0.33
• rvis_percentile_EVS: 73.54

Haploinsufficiency Scores

• pHI: 0.541
• hipred: Y
• hipred_score: 0.530
• ghis: 0.525

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.359

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Stau2

Gene ontology

• Cellular component: nucleolus;endoplasmic reticulum;microtubule;membrane
• Molecular function: RNA binding;double-stranded RNA binding;protein binding