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 ∙ ClinVar

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 (8 variants)
• not specified (1 variants)
• not provided (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.

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			8			8
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	8	1	1

Variants in RSU1

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

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

Position	Type	Phenotype	Significance	ClinVar
10-16593417-G-T		not specified	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		not specified	Uncertain significance (May 26, 2022)
10-16752566-G-A		not specified	Uncertain significance (Feb 17, 2022)
10-16752625-G-A		not specified	Uncertain significance (Jul 06, 2021)
10-16752941-C-G		not specified	Uncertain significance (Oct 20, 2023)
10-16752991-C-T		not specified	Uncertain significance (Jan 16, 2024)
10-16754881-G-T		not specified	Uncertain significance (Aug 13, 2021)
10-16764458-A-T		not specified	Uncertain significance (Jun 24, 2022)
10-16817018-T-C		not specified	Uncertain significance (Jul 19, 2022)
10-16817077-G-C		not specified	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