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RBMXL1

Synonyms
RBM1
External resources
Summary
This gene represents a retrogene of RNA binding motif protein, X-linked (RBMX), which is located on chromosome X. While all introns in the coding sequence have been processed out compared to the RBMX locus, the ORF is intact and there is specific evidence for transcription at this location. The preservation of the ORF by purifying selection in all Old World monkeys carrying it suggests that this locus is likely to be functional, possibly during male meiosis when X chromosomal genes are silenced or during haploid stages of spermatogenesis. This gene shares 5' exon structure with the cysteine conjugate-beta lyase 2 locus on chromosome 1, but the coding sequences are non-overlapping. Alternative splicing results in two transcript variants.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
109
Likely pathogenic
1,874
VUS
4,286
Likely benign
75
Benign
0

Patient phenotypes

Proportions of phenotypes among 1983 patients carring pathogenic or likely pathogenic variants on RBMXL1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
41.5%
Abnormality of the eye
28.7%
Abnormality of the musculoskeletal system
28.7%
Abnormality of head or neck
21.5%
Abnormality of the cardiovascular system
18.5%
Abnormality of the ear
15.6%
Growth abnormality
13.1%
Abnormality of the integument
12%
Abnormality of limbs
9.3%
Abnormality of the genitourinary system
9.3%
Abnormality of the digestive system
7.9%
Abnormality of the immune system
6.6%
Abnormality of blood and blood-forming tissues
4%
Abnormality of the endocrine system
3.9%
Abnormality of the respiratory system
3.8%
Neoplasm
2.9%
Abnormality of prenatal development or birth
2.3%
Constitutional symptom
1.4%
Abnormality of the breast
0.9%
Abnormal cellular phenotype
0.6%
Abnormality of the voice
0.4%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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