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
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.31(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
ClinGen Curation ID:
CCID:007262
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)