Home > Gene Browser > FPGT-TNNI3K

FPGT-TNNI3K

Synonyms
CARK, TNNI3K
External resources
Summary
This locus represents naturally occurring read-through transcription from the neighboring fucose-1-phosphate guanylyltransferase (FPGT) and TNNI3 interacting kinase (TNNI3K) genes. Alternative splicing results in multiple transcript variants that are composed of in-frame exons from each individual gene.

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
66
Likely pathogenic
1
VUS
9,737
Likely benign
1,201
Benign
0

Patient Phenotypes

Proportions of phenotypes among 66 patients carrying pathogenic or likely pathogenic variants on FPGT-TNNI3K gene are displayed below. The following symptoms were found in patients with a variant in FPGT-TNNI3K. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
39.4%
Abnormality of the musculoskeletal system
30.3%
Abnormality of the eye
27.3%
Abnormality of head or neck
24.2%
Abnormality of the ear
18.2%
Abnormality of the cardiovascular system
16.7%
Growth abnormality
15.2%
Abnormality of limbs
10.6%
Abnormality of the integument
9.1%
Abnormality of the endocrine system
7.6%
Abnormality of metabolism homeostasis
6.1%
Abnormality of the genitourinary system
4.5%
Abnormality of prenatal development or birth
3%
Abnormality of the digestive system
3%
Abnormality of the immune system
3%
Abnormality of blood and blood forming tissues
1.5%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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