DCX |
- 3
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- DCX (HGNC:2714) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- doublecortin
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- SCLH, DC, LISX, DBCN, XLIS
- %HI
- 1.65(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.3(Read more about gnomAD pLI score)
- LOEUF
- 0.62(Read more about gnomAD LOEUF score)
- Cytoband
- Xq23
- Genomic Coordinates
-
GRCh37/hg19: chrX:110537007-110655420 NCBI Ensembl UCSC GRCh38/hg38: chrX:111293779-111412192 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001195553.2 ENST00000636035.2 (Read more about MANE Select)
- Function
- Microtubule-associated protein required for initial steps of neuronal dispersion and cortex lamination during cerebral cortex development. May act by competing with the putative neuronal protein kinase DCLK1 in binding to a target protein. May in that way participate in a signaling pathway that is crucial for neuronal interaction before and during migration, possibly as part of a calcium ion-dependent signal transduction pathway. May be part with PAFAH1B1/LIS-1 of overlapping, but distinct, sign... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Haploinsufficiency (HI) Score Details
- lissencephaly type 1 due to doublecortin gene mutation Monarch
-
PUBMED:
PMID: 9489700
Gleeson et al (1998) described 3 unrelated (sporadic) females with subcortical band heterotopia (see loss phenotype description below) with disruption of the DCX gene. Patient 1 has a 2 basepair AG insertion at position 36, resulting in a frameshift and protein termination at amino acid 24. Patient 2 has a 2 basepair CT deletion at position 684, resulting in a frameshift and protein termination at amino acid 240. Patient 3 has a 2 basepair CT deletion at position 691, resulting in a frameshift and protein termination at amino acid 240. Patient 3 was the only one with parental testing, and the mutation is de novo. In the same paper, Gleeson et al also describe 4 families with different missense mutations in the DCX gene. In each of these families, males carrying the mutation have lissencephaly and females with the mutation have subcortical band heterotopia.
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.