RSU1

Ras suppressor protein 1

Basic information

Region (hg38): 10:16590610-16817463

Links

ENSG00000148484 ∙ NCBI:6251 ∙ OMIM:179555 ∙ HGNC:10464 ∙ Uniprot:Q15404 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RSU1 gene.

• Inborn genetic diseases (7 variants)
• not provided (2 variants)
• not specified (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RSU1 gene is commonly pathogenic or not.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			7			7
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice variant				1		1
non coding					1	1
Total	0	0	7	2	1

Variants in RSU1

This is a list of pathogenic ClinVar variants found in the RSU1 region.

Position	Type	Phenotype	Significance	ClinVar
10-16593417-G-T		Inborn genetic diseases	Uncertain significance (Jul 12, 2023)
10-16695049-C-T			Likely benign (Jul 07, 2018)
10-16695157-TG-T			Likely benign (-)
10-16695165-G-GA		not specified	Benign (Mar 29, 2016)
10-16752545-C-G		Inborn genetic diseases	Uncertain significance (May 26, 2022)
10-16752566-G-A		Inborn genetic diseases	Uncertain significance (Feb 17, 2022)
10-16752625-G-A		Inborn genetic diseases	Uncertain significance (Jul 06, 2021)
10-16754881-G-T		Inborn genetic diseases	Uncertain significance (Aug 13, 2021)
10-16764458-A-T		Inborn genetic diseases	Uncertain significance (Jun 24, 2022)
10-16817018-T-C		Inborn genetic diseases	Uncertain significance (Jul 19, 2022)
10-16817077-G-C		Inborn genetic diseases	Uncertain significance (Jan 05, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RSU1	protein_coding	protein_coding	ENST00000377921	8	226918

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000891	0.944	125724	0	23	125747	0.0000915

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.457	142	158	0.898	0.00000862	1831
Missense in Polyphen		37	42.914	0.86219		478
Synonymous	-1.12	80	68.2	1.17	0.00000414	522
Loss of Function	1.69	7	13.8	0.508	6.83e-7	166

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000366	0.000365
Ashkenazi Jewish	0.00	0.00
East Asian	0.000116	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000807	0.0000791
Middle Eastern	0.000116	0.000109
South Asian	0.000173	0.000163
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Potentially plays a role in the Ras signal transduction pathway. Capable of suppressing v-Ras transformation in vitro.
• Pathway: Regulation of cytoskeletal remodeling and cell spreading by IPP complex components;Cell-extracellular matrix interactions;Cell junction organization;Cell-Cell communication (Consensus)

Recessive Scores

• pRec: 0.133

Intolerance Scores

• loftool: 0.684
• rvis_EVS: -0.38
• rvis_percentile_EVS: 27.69

Haploinsufficiency Scores

• pHI: 0.193
• hipred: N
• hipred_score: 0.311
• ghis: 0.588

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.693

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rsu1

Gene ontology

• Biological process: signal transduction;regulation of cell-substrate adhesion;positive regulation of cell-substrate adhesion;positive regulation of GTPase activity
• Cellular component: cytosol;focal adhesion;extracellular exosome
• Molecular function: protein binding