FDXACB1

ferredoxin-fold anticodon binding domain containing 1

Basic information

Region (hg38): 11:111874056-111881243

Links

ENSG00000255561 ∙ NCBI:91893 ∙ ∙ HGNC:25110 ∙ Uniprot:Q9BRP7 ∙ 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 FDXACB1 gene.

• not_specified (82 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FDXACB1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000138378.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			76	6		82
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	76	7	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FDXACB1	protein_coding	protein_coding	ENST00000260257	5	7188

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.40e-10	0.351	124384	0	254	124638	0.00102

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0741	316	320	0.988	0.0000151	4095
Missense in Polyphen		91	102.78	0.88537		1364
Synonymous	-0.927	138	125	1.11	0.00000622	1217
Loss of Function	0.935	17	21.7	0.783	0.00000101	274

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00562	0.00562
Ashkenazi Jewish	0.000298	0.000298
East Asian	0.000454	0.000445
Finnish	0.00	0.00
European (Non-Finnish)	0.000351	0.000327
Middle Eastern	0.000454	0.000445
South Asian	0.00125	0.00121
Other	0.000359	0.000330

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.900
• rvis_EVS: 0.43
• rvis_percentile_EVS: 77.29

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.148
• ghis: 0.397

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.282

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fdxacb1
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); homeostasis/metabolism phenotype; growth/size/body region phenotype

Gene ontology

• Biological process: rRNA base methylation
• Cellular component: cytoplasm
• Molecular function: protein binding;rRNA (uridine-N3-)-methyltransferase activity