ZNF407 |
- 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)