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TAF4B

Synonyms
SPGF13, TAF2C2, TAFII105
External resources
Summary
TATA binding protein (TBP) and TBP-associated factors (TAFs) participate in the formation of the TFIID protein complex, which is involved in initiation of transcription of genes by RNA polymerase II. This gene encodes a cell type-specific TAF that may be responsible for mediating transcription by a subset of activators in B cells. Three transcript variants encoding two different isoforms have been found for this gene.

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
21
Likely pathogenic
0
VUS
10,384
Likely benign
3,387
Benign
478

Patient phenotypes

Proportions of phenotypes among 14 patients carrying pathogenic or likely pathogenic variants on TAF4B gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
50%
Abnormality of head or neck
35.7%
Abnormality of the cardiovascular system
28.6%
Abnormality of the musculoskeletal system
21.4%
Abnormality of the ear
14.3%
Constitutional symptom
14.3%
Growth abnormality
14.3%
Abnormality of blood and blood-forming tissues
7.1%
Abnormality of limbs
7.1%
Abnormality of the genitourinary system
7.1%
Abnormality of the integument
7.1%
Neoplasm
7.1%
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 eye
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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