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KDM6A |
- 3
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- KDM6A (HGNC:12637) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- lysine demethylase 6A
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- UTX
- Alias symbols
- No aliases found
- %HI
- 4.72(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.16(Read more about gnomAD LOEUF score)
- Cytoband
- Xp11.3
- Genomic Coordinates
-
GRCh37/hg19: chrX:44732434-44972024 NCBI Ensembl UCSC GRCh38/hg38: chrX:44873188-45112779 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001291415.2 ENST00000611820.5 (Read more about MANE Select)
- Function
- Histone demethylase that specifically demethylates 'Lys-27' of histone H3, thereby playing a central role in histone code (PubMed:17851529, PubMed:17713478, PubMed:17761849). Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-27' (PubMed:17851529, PubMed:17713478, PubMed:17761849). Plays a central role in regulation of posterior development, by regulating HOX gene expression (PubMed:17851529). Demethylation of 'Lys-27' of histone H3 is concomitant with methylation of 'Lys... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Haploinsufficiency (HI) Score Details
- Kabuki syndrome 2 Monarch
-
PUBMED:
22197486
Lederer et al. (2012) report de novo microdeletions in two females with Kabuki syndrome which include all or a portion of KDM6A. They also report a de novo deletion of exons 5-9 in a male patient with Kabuki syndrome. Authors discuss implications of KDM6A partially escaping X-inactivation and a possible partial compensation from the paralog on the Y chromosome. Both females had skewed X-inactivation with the deleted copy preferentially inactivated.
-
PUBMED:
23076834
Miyake et al (2013) report mutations in three patients with Kabuki syndrome. Two male patients had nonsense mutations which would be predicted to cause nonsense-mediated decay based on location. Parental specimens were not available for testing but parents are reportedly healthy. One female patient had a de novo 3-bp deletion of a conserved amino residue in the Jumonji C domain.
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.
Triplosensitivity (TS) Score Details
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.
