SIX1
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
SIX1 (HGNC:10887) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
SIX homeobox 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
DFNA23
Alias symbols
No aliases found
%HI
1.35(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.25(Read more about gnomAD pLI score)
LOEUF
0.69(Read more about gnomAD LOEUF score)
Cytoband
14q23.1
Genomic Coordinates
GRCh37/hg19: chr14:61110139-61116195 NCBI Ensembl UCSC
GRCh38/hg38: chr14:60643421-60649477 NCBI Ensembl UCSC
MANE Select Transcript
NM_005982.4 ENST00000645694.3 (Read more about MANE Select)
Function
Transcription factor that is involved in the regulation of cell proliferation, apoptosis and embryonic development (By similarity). Plays an important role in the development of several organs, including kidney, muscle and inner ear (By similarity). Depending on context, functions as a transcriptional repressor or activator (By similarity). Lacks an activation domain, and requires interaction with EYA family members for transcription activation (PubMed:15141091). Mediates nuclear translocation o... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-20559
ClinGen Curation ID:
CCID:007852
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
03/22/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
There are multiple reports of missense mutations in individuals with branchio-oto-renal syndrome (BOR) and branchio-oto syndrome (BOS), PMIDs: 21280147, 18330911, 21700001, 17637804, 16652090, and 16652090. Functional studies suggest that these mutations interfere with protein-protein interactions with EYA1 or DNA binding, depending on the domain involved, PMID: 16652090 and 19497856. Nolen et al (2006), PMID: 16835935, report one patient with anophalmia, pituitary hypoplasia, and ear anomalies who had a de novo t(3;14)(q28;q23.2) with a deletion at the 14q breakpoint that includes SIX1 and many other genes.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
Ou et al (2008), PMID: 18666230, report a family with clinical features of BOR and oculoauriculvertebral spectrum in which affected members had a 11.79 Mb duplication at 14q22.3q23.3 that contained 51 genes, including SIX1 and also a 4.38 Mb deletion at 13q21.31q21.32.

Genomic View

Select assembly: (NC_000014.8) (NC_000014.9)