• 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
ZNF407 (HGNC:19904) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
zinc finger protein 407
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
FLJ20307, FLJ13839, KIAA1703
%HI
53.21(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.09(Read more about gnomAD LOEUF score)
Cytoband
18q23
Genomic Coordinates
GRCh37/hg19: chr18:72265106-72777627 NCBI Ensembl UCSC
GRCh38/hg38: chr18:74597870-75065671 NCBI Ensembl UCSC
MANE Select Transcript
NM_017757.3 ENST00000299687.10 (Read more about MANE Select)
Function
May be involved in transcriptional regulation. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-20074
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
07/11/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
There is insufficient evidence to suggest haploinsuffuiciency or warrant targeted coverage of this gene. Of note, one study describes one 18q deletion syndrome clinical report with an overview of 19 other selected 18q deletion syndrome patients presenting congenital aural atresia from 18 published articles and one presented poster on 18q deletion syndrome. A combination of three 18q deletions defined a minimum region of overlap spanning 2.3 Mb, including the genes ZNF407, ZADH2, SDCCAG33, ZNF516, FLJ44881, ZNF236, MBP-Golli, and GALR1 (PMID: 16639285)

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
No Literature Identified.

Genomic View

Select assembly: (NC_000018.9) (NC_000018.10)