FRRS1

ferric chelate reductase 1

Basic information

Region (hg38): 1:99703969-99766635

Previous symbols: [ "SDFR2" ]

Links

ENSG00000156869 ∙ NCBI:391059 ∙ OMIM:611578 ∙ HGNC:27622 ∙ Uniprot:Q6ZNA5 ∙ 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 FRRS1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FRRS1 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			2			2
missense			28	2		30
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1	1		2
Total	0	0	31	3	0

Variants in FRRS1

This is a list of pathogenic ClinVar variants found in the FRRS1 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-99709001-C-T		not specified	Likely benign (Dec 05, 2022)
1-99709006-A-T		not specified	Uncertain significance (Nov 15, 2021)
1-99709029-C-T		not specified	Uncertain significance (Dec 21, 2023)
1-99709079-A-G		not specified	Uncertain significance (Sep 12, 2023)
1-99709084-C-A		not specified	Likely benign (Sep 17, 2021)
1-99709244-T-C		not specified	Uncertain significance (Dec 01, 2022)
1-99710934-A-G		not specified	Uncertain significance (Jun 22, 2024)
1-99710939-C-T		not specified	Uncertain significance (Feb 27, 2023)
1-99710943-G-A		not specified	Uncertain significance (Aug 10, 2023)
1-99715642-C-T		not specified	Uncertain significance (Oct 26, 2022)
1-99715650-G-C		not specified	Uncertain significance (Oct 26, 2022)
1-99715666-G-A		not specified	Uncertain significance (Nov 23, 2022)
1-99717429-C-A		not specified	Uncertain significance (Jun 28, 2022)
1-99717441-G-C		not specified	Uncertain significance (Aug 10, 2021)
1-99717486-A-G		not specified	Uncertain significance (Jun 10, 2024)
1-99719563-G-T		not specified	Uncertain significance (Mar 31, 2024)
1-99719572-A-G		not specified	Uncertain significance (Apr 25, 2023)
1-99719644-C-T		not specified	Uncertain significance (Dec 19, 2023)
1-99728574-T-C		not specified	Uncertain significance (Jun 03, 2022)
1-99738175-A-G		not specified	Uncertain significance (Mar 25, 2024)
1-99738183-A-T		not specified	Uncertain significance (Dec 18, 2023)
1-99738196-C-G		not specified	Uncertain significance (May 11, 2022)
1-99738222-G-C		not specified	Uncertain significance (Oct 10, 2023)
1-99738239-C-G		not specified	Uncertain significance (Apr 25, 2022)
1-99740807-G-C		not specified	Uncertain significance (Mar 28, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FRRS1	protein_coding	protein_coding	ENST00000287474	15	57929

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.97e-9	0.979	125695	0	53	125748	0.000211

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.570	306	335	0.912	0.0000160	4114
Missense in Polyphen		99	107.73	0.91893		1314
Synonymous	-0.0702	116	115	1.01	0.00000596	1172
Loss of Function	2.24	19	32.9	0.578	0.00000155	385

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000458	0.000458
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.000109	0.000109
Finnish	0.000601	0.000601
European (Non-Finnish)	0.000150	0.000149
Middle Eastern	0.000109	0.000109
South Asian	0.000261	0.000261
Other	0.000327	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Ferric-chelate reductases reduce Fe(3+) to Fe(2+) before its transport from the endosome to the cytoplasm. {ECO:0000250}.

Recessive Scores

• pRec: 0.125

Intolerance Scores

• loftool: 0.244
• rvis_EVS: -0.11
• rvis_percentile_EVS: 45.49

Haploinsufficiency Scores

• pHI: 0.176
• hipred: N
• hipred_score: 0.253
• ghis: 0.518

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0630

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Frrs1
• Phenotype: homeostasis/metabolism phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); skeleton phenotype

Gene ontology

• Biological process: oxidation-reduction process
• Cellular component: integral component of membrane
• Molecular function: ferric-chelate reductase activity;metal ion binding