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PIM1

Synonyms
PIM
External resources
Summary
The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and PIM subfamily. This gene is expressed primarily in B-lymphoid and myeloid cell lines, and is overexpressed in hematopoietic malignancies and in prostate cancer. It plays a role in signal transduction in blood cells, contributing to both cell proliferation and survival, and thus provides a selective advantage in tumorigenesis. Both the human and orthologous mouse genes have been reported to encode two isoforms (with preferential cellular localization) resulting from the use of alternative in-frame translation initiation codons, the upstream non-AUG (CUG) and downstream AUG codons (PMIDs:16186805, 1825810).

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
1
Likely pathogenic
87
VUS
3,201
Likely benign
210
Benign
0

Patient Phenotypes

Proportions of phenotypes among 88 patients carrying pathogenic or likely pathogenic variants on PIM1 gene are displayed below. The following symptoms were found in patients with a variant in PIM1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
45.5%
Abnormality of the musculoskeletal system
29.5%
Abnormality of the eye
28.4%
Abnormality of head or neck
27.3%
Abnormality of the integument
19.3%
Abnormality of limbs
17%
Abnormality of the genitourinary system
11.4%
Growth abnormality
9.1%
Abnormality of the digestive system
8%
Abnormality of the immune system
6.8%
Abnormality of metabolism homeostasis
5.7%
Abnormality of the cardiovascular system
5.7%
Abnormality of the ear
5.7%
Abnormality of the endocrine system
5.7%
Abnormality of blood and blood forming tissues
4.5%
Abnormality of the respiratory system
4.5%
Abnormal cellular phenotype
1.1%
Abnormality of prenatal development or birth
1.1%
Neoplasm
1.1%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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