Home > Gene Browser > GTF2I

GTF2I

Synonyms
BAP135, BTKAP1, DIWS, GTFII-I, IB291, SPIN, TFII-I, WBS, WBSCR6
External resources
Summary
This gene encodes a phosphoprotein containing six characteristic repeat motifs. The encoded protein binds to the initiator element (Inr) and E-box element in promoters and functions as a regulator of transcription. This locus, along with several other neighboring genes, is deleted in Williams-Beuren syndrome. There are many closely related genes and pseudogenes for this gene on chromosome 7. This gene also has pseudogenes on chromosomes 9, 13, and 21. Alternatively spliced transcript variants encoding multiple isoforms have been observed.

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
11
Likely pathogenic
5
VUS
8,719
Likely benign
3,179
Benign
0

Patient Phenotypes

Proportions of phenotypes among 14 patients carrying pathogenic or likely pathogenic variants on GTF2I gene are displayed below. The following symptoms were found in patients with a variant in GTF2I. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
42.9%
Abnormality of the musculoskeletal system
42.9%
Abnormality of the nervous system
35.7%
Abnormality of limbs
28.6%
Abnormality of the cardiovascular system
21.4%
Abnormality of metabolism homeostasis
14.3%
Abnormality of the eye
14.3%
Abnormality of the integument
14.3%
Growth abnormality
14.3%
Abnormal cellular phenotype
7.1%
Abnormality of prenatal development or birth
7.1%
Abnormality of the breast
7.1%
Abnormality of the genitourinary system
7.1%
Abnormality of the immune system
7.1%
Abnormality of the voice
7.1%
Neoplasm
7.1%
Abnormality of blood and blood forming tissues
0%
Abnormality of the digestive system
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%

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