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)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
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)