IRF6 |
- 3
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- IRF6 (HGNC:6121) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- interferon regulatory factor 6
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- VWS, LPS
- Alias symbols
- OFC6, VWS1
- %HI
- 2.03(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.21(Read more about gnomAD LOEUF score)
- Cytoband
- 1q32.2
- Genomic Coordinates
-
GRCh37/hg19: chr1:209958962-209979487 NCBI Ensembl UCSC GRCh38/hg38: chr1:209785617-209806142 NCBI Ensembl UCSC - MANE Select Transcript
- NM_006147.4 ENST00000367021.8 (Read more about MANE Select)
- Function
- Probable DNA-binding transcriptional activator. Key determinant of the keratinocyte proliferation-differentiation switch involved in appropriate epidermal development (By similarity). Plays a role in regulating mammary epithelial cell proliferation (By similarity). May regulate WDR65 transcription (By similarity). {ECO:0000250}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-19654
ClinGen Curation ID:
CCID:007332
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency
(3)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
07/06/2012
Haploinsufficiency (HI) Score Details
HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency
(Disclaimer)
HI Disease:
- van der Woude syndrome 1 Monarch
HI Evidence Comments:
Loss of function mutations and deletions are associated with Van der Woude syndrome.
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)