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GIMAP1-GIMAP5

Synonyms
-
External resources
Summary
This locus represents naturally occurring readthrough transcription between the neighboring GIMAP1 (GTPase, IMAP family member 1) and GIMAP5 (GTPase, IMAP family member 5) genes on chromosome 7. Alternative splicing results in multiple readthrough transcript variants, one of which encodes a fusion protein that shares sequence identity with each individual gene product.

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
36
Likely pathogenic
0
VUS
1,125
Likely benign
137
Benign
0

Patient Phenotypes

Proportions of phenotypes among 34 patients carrying pathogenic or likely pathogenic variants on GIMAP1-GIMAP5 gene are displayed below. The following symptoms were found in patients with a variant in GIMAP1-GIMAP5. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
29.4%
Abnormality of the musculoskeletal system
23.5%
Abnormality of the eye
20.6%
Abnormality of the cardiovascular system
17.6%
Abnormality of head or neck
11.8%
Abnormality of the ear
11.8%
Growth abnormality
11.8%
Abnormality of blood and blood forming tissues
8.8%
Abnormality of the integument
8.8%
Abnormality of limbs
2.9%
Abnormality of metabolism homeostasis
2.9%
Abnormality of the genitourinary system
2.9%
Abnormality of the respiratory system
2.9%
Neoplasm
2.9%
Abnormal cellular phenotype
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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