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)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
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)