GTF2IRD1

  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
GTF2IRD1 (HGNC:4661) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
GTF2I repeat domain containing 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
WBSCR11
Alias symbols
MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1
%HI
47.51(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.9(Read more about gnomAD pLI score)
LOEUF
0.33(Read more about gnomAD LOEUF score)
Cytoband
7q11.23
Genomic Coordinates
GRCh37/hg19: chr7:73868236-74016931 NCBI Ensembl UCSC
GRCh38/hg38: chr7:74453906-74602605 NCBI Ensembl UCSC
MANE Select Transcript
NM_005685.4 ENST00000424337.7 (Read more about MANE Select)
Function
May be a transcription regulator involved in cell-cycle progression and skeletal muscle differentiation. May repress GTF2I transcriptional functions, by preventing its nuclear residency, or by inhibiting its transcriptional activation. May contribute to slow- twitch fiber type specificity during myogenesis and in regenerating muscles. Binds troponin I slow-muscle fiber enhancer (USE B1). Binds specifically and with high affinity to the EFG sequences derived from the early enhancer of HOXC8 (By s... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-16438
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
10/10/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
While haploinsufficiency for GTF2IRD1 alone has not been demonstrated, deletions involving the larger 7q11.23 region cause the contiguous gene deletion disorder, Williams-Beuren syndrome (WBS) (MIM #194050). Genotype-phenotype correlation studies of patients with atypical 7q11.23 deletions and studies of mouse models have implicated GTF2IRD1 in neurocognitive, motor function, and craniofacial aspects of WBS [see PMIDs 19897463 and 22198572].

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
GTF2IRD1 is typically included in the duplication of patients with the chromosome 7q11.23 microduplication syndrome (MIM #609757), however it is not known whether increased gene dosage contributes to any of the associated phenotypes; focal GTF2IRD1 duplication has not been reported.

Genomic View

Select assembly: (NC_000007.13) (NC_000007.14)