ARHGEF6
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
ARHGEF6 (HGNC:685) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
Rac/Cdc42 guanine nucleotide exchange factor 6
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
MRX46
Alias symbols
alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2, αPix
%HI
14.42(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.14(Read more about gnomAD LOEUF score)
Cytoband
Xq26.3
Genomic Coordinates
GRCh37/hg19: chrX:135747709-135863091 NCBI Ensembl UCSC
GRCh38/hg38: chrX:136665550-136780932 NCBI Ensembl UCSC
MANE Select Transcript
NM_004840.3 ENST00000250617.7 (Read more about MANE Select)
Function
Acts as a RAC1 guanine nucleotide exchange factor (GEF). (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-10235
ClinGen Curation ID:
CCID:006685
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
04/25/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
There are no clear loss of function mutations reported for ARHGEF6. One paper (PMID: 11017088) reports a boy with intellectual disability who has an apparently balanced t(X;21) that has a breakpoint within intron 10 of ARHGEF6. The mother is a carrier and phenotypically normal, so it would be expected that her normal X is inactivated. However, normal mRNA was detected in the mother and ARHGEF6 does not escape X-inactivation. This paper also reports a family with X-linked intellectual disability and an intronic substitution (IVS1-11T>C). This appeared to cause skipping of exon 2 yielding an in-frame deletion in a subset of transcripts. It is not clear if this single exon deletion would lead to loss-of-function of this gene.
NOTE:

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

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
Focal duplications of ARHGEF6 have not been reported. Larger duplications including ARHGEF6 and other genes have been reported (PMID: 20861843).
NOTE:

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.

Genomic View

Select assembly: (NC_000023.10) (NC_000023.11)