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GTF2A1L |
Gene Facts External Data Attribution
- HGNC Symbol
- GTF2A1L (HGNC:30727) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- general transcription factor IIA subunit 1 like
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- ALF
- %HI
- 60(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.22(Read more about gnomAD LOEUF score)
- Cytoband
- 2p16.3
- Genomic Coordinates
-
GRCh37/hg19: chr2:48844995-48906743 NCBI Ensembl UCSC GRCh38/hg38: chr2:48617856-48679604 NCBI Ensembl UCSC - MANE Select Transcript
- NM_006872.5 ENST00000403751.8 (Read more about MANE Select)
- Function
- May function as a testis specific transcription factor. Binds DNA in conjunction with GTF2A2 and TBP (the TATA-binding protein) and together with GTF2A2, allows mRNA transcription. {ECO:0000269|PubMed:10364255}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-1320
Curation Status:
Awaiting Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Awaiting Review
Triplosensitivity:
Awaiting Review
Last Evaluated:
Awaiting Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000002.11)
(NC_000002.12)
