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ARX |
- 3
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- ARX (HGNC:18060) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- aristaless related homeobox
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- MRXS1, PRTS, MRX76, MRX54, MRX43, MRX36, MRX29, MRX32, MRX33, MRX38, MRX87
- Alias symbols
- ISSX, CT121, EIEE1
- %HI
- 20.25(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.91(Read more about gnomAD pLI score)
- LOEUF
- 0.39(Read more about gnomAD LOEUF score)
- Cytoband
- Xp21.3
- Genomic Coordinates
-
GRCh37/hg19: chrX:25021811-25034082 NCBI Ensembl UCSC GRCh38/hg38: chrX:25003694-25015965 NCBI Ensembl UCSC - MANE Select Transcript
- NM_139058.3 ENST00000379044.5 (Read more about MANE Select)
- Function
- Transcription factor (PubMed:22194193, PubMed:31691806). Binds to specific sequence motif 5'-TAATTA-3' in regulatory elements of target genes, such as histone demethylase KDM5C (PubMed:22194193, PubMed:31691806). Positively modulates transcription of KDM5C (PubMed:31691806). Activates expression of KDM5C synergistically with histone lysine demethylase PHF8 and perhaps in competition with transcription regulator ZNF711; synergy may be related to enrichment of histone H3K4me3 in regulatory element... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Haploinsufficiency (HI) Score Details
- X-linked lissencephaly with abnormal genitalia Monarch
-
PUBMED:
12379852
Kitamura et al (2002) described nonsense, frameshift and deletion mutations of ARX in a study of X-linked lissencephaly with abnormal genitalia. Method: Sanger sequencing of known clinical cases. 6 cases had LOF mutations of ARX: 1 - 32 bp deletion within exon 2 resulting in a truncated protein 2 - 1bp deletion within exon 2 resulting in a truncated protein 3 - stop mutation in exon 3 (carrier mother) 4 - 1bp insertion in exon 4 resulting in a truncated protein 5 - deletion of exons 1 & 2 6 - 1bp deletion within exon 4 resulting in a truncated protein
-
PUBMED:
14722918
In a followup paper to Kitamura et al (2002), Kato et al (2004) describe a series of patients with an expanded clinical presentation highlighting pleiotropy of ARX. Method: Sanger sequencing of known clinical cases + RNA studies for splice variants 10 additional LOF cases: 1 - EX2-5del 2 - c.196+2T>C (splice) 3 - c.232G>T (stop) 4 - c.335_368del 5 - c.392_452del 6 - c.617delG 7 - c.619_647del 8 - c.1119+1G>C (splice) 9 - c.1105G>T (stop) 10 - c.1372del G
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.
