• 1
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
PHF3 (HGNC:8921) HGNC Entrez Ensembl OMIM UCSC GeneReviews LOVD LSDB ClinVar
HGNC Name
PHD finger protein 3
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
No aliases found
%HI
36.85(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.99(Read more about gnomAD pLI score)
LOEUF
0.29(Read more about gnomAD LOEUF score)
Cytoband
6q12
Genomic Coordinates
GRCh37/hg19: chr6:64345707-64435904 NCBI Ensembl UCSC
GRCh38/hg38: chr6:63635802-63726011 NCBI Ensembl UCSC
MANE Select Transcript
NM_001370348.2 ENST00000262043.8 (Read more about MANE Select)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-1456
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Little Evidence for Haploinsufficiency (1)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
02/27/2019

Haploinsufficiency (HI) Score Details

HI Score:
1
HI Evidence Strength:
Little Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
HI Evidence:
  • PUBMED: 25363768
    Iossifov et al (2014) used exome sequencing (including parental samples and confirmatory methods for de novo variants) on Simons Simplex Collection samples to identify variants associated with autism spectrum disorder. One de novo frameshift variant was identified in a patient. Of note, this appears to be the same patient described by Dong et al (2014, PMID 25284784).
  • PUBMED: 28263302
    Yuen et al (2017) performed genome sequencing (including parental samples and confirmatory methods for de novo variants) on families with autism spectrum disorder. One de novo frameshift variant was identified in a patient (the DNA sequence change occurred in exon 10 of 15 or 12 of 17, depending on transcript). In this cohort, the following PHF3 putative loss-of-function variants were also identified: a frameshift of unknown inheritance, a frameshift inherited from an unaffected parent (sequence change located upstream of the previously mentioned de novo change), and a nonsense variant in the last exon inherited from an unaffected parent.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
No reports of focal PHF3 duplications.

Genomic View

Select assembly: (NC_000006.11) (NC_000006.12)