PHF3 |
- 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
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.3(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
ClinGen Curation ID:
CCID:007656
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:
- autism spectrum disorder Monarch
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)