RFX6 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- RFX6 (HGNC:21478) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- regulatory factor X6
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- RFXDC1
- Alias symbols
- MGC33442, dJ955L16.1
- %HI
- 28.8(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.69(Read more about gnomAD LOEUF score)
- Cytoband
- 6q22.1
- Genomic Coordinates
-
GRCh37/hg19: chr6:117198405-117253324 NCBI Ensembl UCSC GRCh38/hg38: chr6:116877242-116932161 NCBI Ensembl UCSC - MANE Select Transcript
- NM_173560.4 ENST00000332958.3 (Read more about MANE Select)
- Function
- Transcription factor required to direct islet cell differentiation during endocrine pancreas development. Specifically required for the differentiation of 4 of the 5 islet cell types and for the production of insulin (PubMed:20148032, PubMed:25497100). Not required for pancreatic PP (polypeptide-producing) cells differentiation. Acts downstream of NEUROG3 and regulates the transcription factors involved in beta-cell maturation and function, thereby restricting the expression of the beta-cell dif... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-36751
ClinGen Curation ID:
CCID:007764
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
09/18/2015
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome Monarch
HI Evidence Comments:
Variants in RFX6 have been reported in individuals with Mitchell-Riley syndrome, an autosomal recessive condition.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000006.11)
(NC_000006.12)