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TAF15

Synonyms
Npl3, RBP56, TAF2N, TAFII68
External resources
Summary
This gene encodes a member of the TET family of RNA-binding proteins. The encoded protein plays a role in RNA polymerase II gene transcription as a component of a distinct subset of multi-subunit transcription initiation factor TFIID complexes. Translocations involving this gene play a role in acute leukemia and extraskeletal myxoid chondrosarcoma, and mutations in this gene may play a role in amyotrophic lateral sclerosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this 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
19
Likely pathogenic
0
VUS
2,363
Likely benign
4,797
Benign
3

Patient Phenotypes

Proportions of phenotypes among 17 patients carrying pathogenic or likely pathogenic variants on TAF15 gene are displayed below. The following symptoms were found in patients with a variant in TAF15. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
47.1%
Abnormality of the musculoskeletal system
35.3%
Abnormality of head or neck
23.5%
Abnormality of the ear
23.5%
Abnormality of the eye
23.5%
Abnormality of the integument
17.6%
Abnormality of limbs
11.8%
Abnormality of metabolism homeostasis
11.8%
Abnormality of the cardiovascular system
11.8%
Abnormality of the digestive system
11.8%
Abnormality of the genitourinary system
11.8%
Abnormality of the immune system
11.8%
Growth abnormality
11.8%
Abnormality of blood and blood forming tissues
5.9%
Abnormality of the endocrine system
5.9%
Neoplasm
5.9%
Abnormal cellular phenotype
0%
Abnormality of prenatal development or birth
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%

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