Home > Gene Browser > HSPE1-MOB4

HSPE1-MOB4

Synonyms
HSPE1-PHOCN
External resources
Summary
This locus represents naturally occurring read-through transcription between the neighboring HSPE1 (heat shock 10kDa protein 1 (chaperonin 10)) and MOB4 (MOB family member 4, phocein) genes on chromosome 2. The read-through transcript produces a fusion protein that shares sequence identity with each individual gene product.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
22
Likely pathogenic
0
VUS
4,261
Likely benign
244
Benign
0

Patient phenotypes

Proportions of phenotypes among 22 patients carrying pathogenic or likely pathogenic variants on HSPE1-MOB4 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
50%
Abnormality of the eye
27.3%
Abnormality of the musculoskeletal system
27.3%
Abnormality of head or neck
22.7%
Growth abnormality
18.2%
Abnormality of the cardiovascular system
13.6%
Abnormality of the ear
13.6%
Abnormality of the immune system
13.6%
Abnormality of limbs
9.1%
Abnormality of blood and blood-forming tissues
4.5%
Abnormality of the integument
4.5%
Abnormality of the respiratory system
4.5%
Abnormality of the voice
4.5%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
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 genitourinary system
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%
Neoplasm
0%

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