RADX

protein-coding

RPA1 related single stranded DNA binding protein, X-linked, the group of MicroRNA protein coding host genes

Gene summary

Enables single-stranded DNA binding activity. Involved in negative regulation of double-strand break repair via homologous recombination. Located in nuclear speck and replication fork. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

CXorf57

MANE transcript

NM_018015.6

Inheritance

—

ClinVar variants

U:108B:8

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.39

Max pathogenic AF

—

Genomic locus

chrX:106,611,930-106,679,439

External References & Databases

Ensembl (ENSG00000147231)

Transcript & Mutation Effects

hg38 • Region Span ~67.5 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to RADX variants in ClinVar

2 Conditions Cataloged

not providedTotal: 8

not specifiedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_018015.6. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			24 clinvar	3 clinvar	1 clinvar	28
missense			72 clinvar	3 clinvar	1 clinvar	76
nonsense			6 clinvar			6
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			6 clinvar			6
Total	0	0	108	6	2	116

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 10 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_018015.6	RefSeq	NP_060485.4	14	MANE Select
ENST00000372548.9	Ensembl	ENSP00000361628.4	14	MANE Select
NM_001184782.2	RefSeq	NP_001171711.1	13	Standard
ENST00000372544.6	Ensembl	ENSP00000361623.2	13	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

negative regulation of double-strand break repair via homologous recombination

Molecular Function

single-stranded DNA binding
RNA binding
protein binding

Cellular Component

replication fork

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000372548
Coding exons: 14
Length: 67513
Individuals with no LoFs: 125724
Homozygous LoFs: 7
Heterozygous LoFs: 14
Defined: 125745
p: 0.0000835

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.95	216	313	0.690	0.0000227	5605
Missense (PolyPhen)		42	84.421	0.49751		1695
Synonymous	-0.209	118	115	1.02	0.00000840	1635
Loss of Function	2.99	11	28.1	0.392	0.00000210	506

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00015	0.00012	rare
Latino/Admixed American	0.000074	0.000058	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00015	0.00011	rare
Finnish	0.00013	0.000092	rare
European (Non-Finnish)	0.00015	0.00011	rare
South Asian	0.000052	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Single-stranded DNA-binding protein recruited to replication forks to maintain genome stability (PubMed:28735897). Prevents fork collapse by antagonizing the accumulation of RAD51 at forks to ensure the proper balance of fork remodeling and protection without interfering with the capacity of cells to complete homologous recombination of double-strand breaks (PubMed:28735897). {ECO:0000269|PubMed:28735897}.;

Intolerance Scores

RVIS EVS: -0.4
RVIS percentile EVS: 26.73

Essentials

Essential (gene trap): N