NFIA |
- 3
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- NFIA (HGNC:7784) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- nuclear factor I A
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- NFI-L, KIAA1439
- %HI
- 0.28(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.18(Read more about gnomAD LOEUF score)
- Cytoband
- 1p31.3
- Genomic Coordinates
-
GRCh37/hg19: chr1:61542899-61928460 NCBI Ensembl UCSC GRCh38/hg38: chr1:61077227-61462788 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001134673.4 ENST00000403491.8 (Read more about MANE Select)
- Function
- Recognizes and binds the palindromic sequence 5'- TTGGCNNNNNGCCAA-3' present in viral and cellular promoters and in the origin of replication of adenovirus type 2. These proteins are individually capable of activating transcription and replication. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-17802
ClinGen Curation ID:
CCID:007549
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency
(3)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
01/12/2017
Haploinsufficiency (HI) Score Details
HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency
(Disclaimer)
HI Disease:
- chromosome 1p32-p31 deletion syndrome Monarch
HI Evidence:
-
PUBMED:
22031302
254 kb deletion of NFIA in a patient with hydrocephalus and hypoplasia of corpus collosum and other features.
-
PUBMED:
24462883
Rao et al. 2014: Describes a de novo, intragenic deletion of NFIA exons 4-9 in an 8-year-old female with features similar to other patients with larger 1p31.1 deletions, including hypoplastic corpus callosum, ventriculomegaly, developmental delay, dysmorphic features, and genitourinary tract anomalies. No functional studies were performed. No exonic deletions were seen in the authors' review of DGV or 1000 Genomes data. This patient also had metopic craniosynostosis, a feature not previously associated with haploinsufficiency of NFIA or deletions of the larger 1p31.1 region.
-
PUBMED:
27081522
Negishi et al. (2015) describe a five-year-old male with a de novo truncating variant (c.1094delC; p.Pro365Hisfs*32) in NFIA identified via whole exome sequencing. The boy was described as having polymicrogyria in the right frontal lobe, interhemispheric cysts, ventricular enlargement and callosal agenesis (identified via MRI of the brain), as well as cystectasia, left hydronephrosis, bilateral grade IV vesicoureteral reflux, and non-progressive enlargement of head circumference.
HI Evidence Comments:
Several other patients with larger deletions involving the 1p31.1 region, including NFIA and other genes, have been reported with similar features, including hypoplastic corpus callosum, ventriculomegaly, genitourinary tract anomalies, macrocephaly, etc. (PMIDs 17530927, 19763616, and others).
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000001.10)
(NC_000001.11)