CHM |
- 3
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- CHM (HGNC:1940) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- CHM Rab escort protein
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- TCD, DXS540
- Alias symbols
- REP-1
- %HI
- 25.28(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.19(Read more about gnomAD LOEUF score)
- Cytoband
- Xq21.2
- Genomic Coordinates
-
GRCh37/hg19: chrX:85116185-85302562 NCBI Ensembl UCSC GRCh38/hg38: chrX:85861180-86047558 NCBI Ensembl UCSC - MANE Select Transcript
- NM_000390.4 ENST00000357749.7 (Read more about MANE Select)
- Function
- Substrate-binding subunit of the Rab geranylgeranyltransferase (GGTase) complex. Binds unprenylated Rab proteins and presents the substrate peptide to the catalytic component B composed of RABGGTA and RABGGTB, and remains bound to it after the geranylgeranyl transfer reaction. The component A is thought to be regenerated by transferring its prenylated Rab back to the donor membrane. Besides, a pre-formed complex consisting of CHM and the Rab GGTase dimer (RGGT or component B) can bind to and pre... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Haploinsufficiency (HI) Score Details
- choroideremia Monarch
-
PUBMED:
33538369
Zeitz et al. (2021) describe a French cohort of 45 families, 25 of which carry novel variants, in the context of 822 previously reported choroideremia (CHM) families. Most of the variants represent loss‐of‐function variants with eleven families having large (i.e. ≥6 kb) genomic deletions; 18 small insertions, deletions or insertion deletions; 6 nonsense variants; 8 splice site variants; and 2 missense variants likely to affect splicing. Similarly, 822 previously published families carry mostly loss‐of‐function variants. These variants and other recurrent variants span all exons of CHM.
-
PUBMED:
27070432
Sanchez-Alcudia et al. (2016) characterized 36 families with CHM and identified 28 different variants. Most of the families (31%, 22/36) carried hemizygous nucleotide substitutions that corresponded mostly to nonsense mutations (36%, 13/36), although splicing mutations (11%, 4/36), frameshift (11%, 4/36) and missense (3%, 1/36) variants were also identified. The remainder of the families (13/36) carried genomic deletions involving complete or partial deletion of the gene. Of note, a 455.6 kb deletion at chromosome region Xq21.2 (arr[GRCh37] Xq21.2(84847610–85303270)x0) exclusively encompassing the entire CHM gene was detected. A de novo previously described translocation was also found.
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.