RFESD

Rieske Fe-S domain containing

Basic information

Region (hg38): 5:95646776-95684773

Links

ENSG00000175449 ∙ NCBI:317671 ∙ ∙ HGNC:29587 ∙ Uniprot:Q8TAC1 ∙ 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 RFESD gene.

• Inborn genetic diseases (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RFESD 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			6			6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	6	0	0

Variants in RFESD

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

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

Position	Type	Phenotype	Significance	ClinVar
5-95654152-A-G		not specified	Uncertain significance (Nov 30, 2022)
5-95654219-T-C		not specified	Uncertain significance (Jun 24, 2022)
5-95654227-C-A		not specified	Uncertain significance (Oct 26, 2021)
5-95654227-C-T		not specified	Uncertain significance (Jan 06, 2023)
5-95656076-C-T		not specified	Uncertain significance (Mar 21, 2022)
5-95656077-C-G		not specified	Uncertain significance (Sep 06, 2022)
5-95656092-A-G		not specified	Uncertain significance (Nov 14, 2023)
5-95656230-C-A		not specified	Uncertain significance (Nov 06, 2023)
5-95658638-C-G		not specified	Uncertain significance (May 23, 2023)
5-95658675-T-G		not specified	Uncertain significance (Sep 14, 2022)
5-95658723-A-G		not specified	Uncertain significance (Jun 05, 2023)
5-95658802-G-T		not specified	Uncertain significance (Jan 24, 2024)
5-95658803-C-T			Likely benign (Dec 01, 2022)
5-95658813-G-T		not specified	Uncertain significance (Mar 04, 2024)
5-95658855-G-T		not specified	Uncertain significance (Nov 17, 2022)
5-95658895-C-T		not specified	Uncertain significance (Sep 16, 2021)
5-95658906-C-G		not specified	Uncertain significance (Jun 14, 2023)
5-95658909-A-T		not specified	Uncertain significance (Feb 22, 2023)
5-95675414-G-T		not specified	Uncertain significance (Mar 02, 2023)
5-95675423-A-T		not specified	Uncertain significance (Oct 03, 2022)
5-95675437-G-A		not specified	Uncertain significance (Jan 30, 2024)
5-95675441-C-T		not specified	Uncertain significance (May 05, 2023)
5-95675453-T-C		not specified	Uncertain significance (Feb 23, 2023)
5-95675525-C-G		not specified	Uncertain significance (May 23, 2023)
5-95675577-A-T		not specified	Uncertain significance (Feb 23, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RFESD	protein_coding	protein_coding	ENST00000458310	5	38020

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000672	0.490	125688	2	42	125732	0.000175

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.909	82	109	0.755	0.00000509	1378
Missense in Polyphen		28	35.469	0.78942		411
Synonymous	0.769	31	36.9	0.839	0.00000178	395
Loss of Function	0.633	9	11.3	0.797	6.70e-7	137

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000423	0.000420
Ashkenazi Jewish	0.00	0.00
East Asian	0.000272	0.000217
Finnish	0.00	0.00
European (Non-Finnish)	0.000150	0.000149
Middle Eastern	0.000272	0.000217
South Asian	0.000463	0.000425
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0928

Intolerance Scores

• loftool: 0.278
• rvis_EVS: 0.1
• rvis_percentile_EVS: 61.28

Haploinsufficiency Scores

• pHI: 0.0971
• hipred: N
• hipred_score: 0.146
• ghis: 0.409

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.487

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rfesd

Gene ontology

• Biological process: oxidation-reduction process
• Molecular function: protein binding;oxidoreductase activity;metal ion binding;2 iron, 2 sulfur cluster binding