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TAF1B

Synonyms
MGC:9349, RAF1B, RAFI63, SL1, TAFI63
External resources
Summary
Initiation of transcription by RNA polymerase I requires the formation of a complex composed of the TATA-binding protein (TBP) and three TBP-associated factors (TAFs) specific for RNA polymerase I. This complex, known as SL1, binds to the core promoter of ribosomal RNA genes to position the polymerase properly and acts as a channel for regulatory signals. This gene encodes one of the SL1-specific TAFs. Multiple transcript variants encoding different isoforms have been found 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
21
Likely pathogenic
1,374
VUS
2,234
Likely benign
49
Benign
0

Patient Phenotypes

Proportions of phenotypes among 1392 patients carrying pathogenic or likely pathogenic variants on TAF1B gene are displayed below. The following symptoms were found in patients with a variant in TAF1B. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
42.5%
Abnormality of the musculoskeletal system
30.7%
Abnormality of the eye
29.5%
Abnormality of head or neck
25.2%
Abnormality of the cardiovascular system
21.3%
Abnormality of the ear
15.4%
Abnormality of the integument
14.5%
Growth abnormality
13.6%
Abnormality of limbs
11.6%
Abnormality of the genitourinary system
11%
Abnormality of metabolism homeostasis
10.2%
Abnormality of the digestive system
8.5%
Abnormality of the immune system
7.8%
Abnormality of blood and blood forming tissues
5.1%
Abnormality of the endocrine system
5.1%
Abnormality of the respiratory system
4%
Neoplasm
3.4%
Abnormality of prenatal development or birth
3.1%
Constitutional symptom
1.3%
Abnormality of the breast
0.6%
Abnormal cellular phenotype
0.6%
Abnormality of the voice
0.6%
Abnormality of the thoracic cavity
0.1%

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