RUSF1

RUS family member 1

Basic information

Region (hg38): 16:31489471-31509309

Previous symbols: [ "C16orf58" ]

Links

ENSG00000140688 ∙ NCBI:64755 ∙ ∙ HGNC:25848 ∙ Uniprot:Q96GQ5 ∙ 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 RUSF1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RUSF1 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			3	1		4
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			27	4	2	33
Total	0	0	30	5	2

Variants in RUSF1

This is a list of pathogenic ClinVar variants found in the RUSF1 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-31490111-G-A		Familial renal glucosuria	Uncertain significance (Apr 09, 2024)
16-31490116-G-T		SLC5A2-related disorder	Uncertain significance (Jan 05, 2024)
16-31490128-C-T		Familial renal glucosuria	Uncertain significance (Apr 28, 2021)
16-31490129-G-A		Familial renal glucosuria	Uncertain significance (Jan 22, 2024)
16-31490130-G-A		Familial renal glucosuria	Conflicting classifications of pathogenicity (May 01, 2024)
16-31490146-C-T		Inborn genetic diseases	Uncertain significance (Sep 11, 2024)
16-31490146-CG-C		Familial renal glucosuria	Likely pathogenic (Feb 13, 2024)
16-31490157-G-T		Familial renal glucosuria	Uncertain significance (Jan 13, 2018)
16-31490167-G-A		Inborn genetic diseases	Uncertain significance (Mar 14, 2023)
16-31490180-C-T		Inborn genetic diseases	Uncertain significance (Aug 16, 2021)
16-31490191-G-C		Familial renal glucosuria	Uncertain significance (Dec 27, 2023)
16-31490200-G-T		Inborn genetic diseases	Uncertain significance (Nov 25, 2024)
16-31490211-G-T		Familial renal glucosuria	Uncertain significance (Jan 13, 2018)
16-31490229-T-C		Familial renal glucosuria	Uncertain significance (Jan 12, 2018)
16-31490232-T-C		Familial renal glucosuria	Uncertain significance (Jan 23, 2023)
16-31490234-G-C		C16orf58-related condition	Likely benign (Jun 07, 2019)
16-31490242-T-C		Familial renal glucosuria	Uncertain significance (Jan 13, 2018)
16-31490322-G-C		Familial renal glucosuria	Uncertain significance (Jan 13, 2018)
16-31490323-G-A		Familial renal glucosuria	Uncertain significance (Jan 13, 2018)
16-31490332-C-T		Inborn genetic diseases • Familial renal glucosuria	Conflicting classifications of pathogenicity (Feb 09, 2024)
16-31490338-C-T		Familial renal glucosuria	Uncertain significance (Dec 26, 2023)
16-31490344-T-C		Inborn genetic diseases	Uncertain significance (Oct 16, 2024)
16-31490346-C-A		Familial renal glucosuria	Likely pathogenic (Mar 27, 2024)
16-31490353-T-C		Familial renal glucosuria	Uncertain significance (May 21, 2024)
16-31490360-G-C		Familial renal glucosuria	Uncertain significance (Jan 13, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RUSF1	protein_coding	protein_coding	ENST00000327237	13	19839

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.14e-17	0.00517	125617	0	131	125748	0.000521

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.175	269	261	1.03	0.0000148	2942
Missense in Polyphen		69	76.492	0.90206		881
Synonymous	0.573	106	114	0.932	0.00000685	956
Loss of Function	-0.00858	26	26.0	1.00	0.00000120	281

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00187	0.00187
Ashkenazi Jewish	0.00	0.00
East Asian	0.00152	0.00152
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000463	0.000457
Middle Eastern	0.00152	0.00152
South Asian	0.000363	0.000359
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.104

Intolerance Scores

• loftool: 0.902
• rvis_EVS: 0.02
• rvis_percentile_EVS: 55.61

Haploinsufficiency Scores

• pHI: 0.103
• hipred: N
• hipred_score: 0.170
• ghis: 0.544

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: BC017158

Gene ontology

• Cellular component: membrane;integral component of membrane