RALGAPB
  • 1
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
RALGAPB (HGNC:29221) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
Ral GTPase activating protein non-catalytic subunit beta
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
KIAA1219
Alias symbols
DKFZp781M2411, RalGAPbeta
%HI
12.23(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.2(Read more about gnomAD LOEUF score)
Cytoband
20q11.23
Genomic Coordinates
GRCh37/hg19: chr20:37101486-37207501 NCBI Ensembl UCSC
GRCh38/hg38: chr20:38472843-38578858 NCBI Ensembl UCSC
MANE Select Transcript
NM_020336.4 ENST00000262879.11 (Read more about MANE Select)
Function
Non-catalytic subunit of the heterodimeric RalGAP1 and RalGAP2 complexes which act as GTPase activators for the Ras-like small GTPases RALA and RALB. {ECO:0000250}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-7849
ClinGen Curation ID:
CCID:007751
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Little Evidence for Haploinsufficiency (1)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
02/27/2019

Haploinsufficiency (HI) Score Details

HI Score:
1
HI Evidence Strength:
Little Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
  • Complex Neurodevelopmental Disorder Monarch
HI Evidence:
  • PUBMED: 30564305
    Guo H et al. 2018. This group sequenced 85 genes in 599 probands and 187 autism candidate genes in an additional 784 probands, and identified likely gene-disrupting (LGD) de novo mutations in 13 genes. In figure 1, three de novo LOF variants (p.M289Vfs*3, p.D643Kfs*3, p.S1287*) as well as a missense variant (p.Y325C) were identified in RALGAPB in four ASD patients separately. p.M289Vfs*3 was reported in an ASC (Autism Sequencing Consortium) patient, p.S1287* was reported in a patient with epilepsy in EPI4K study. p.D643Kfs*3 and p.Y325C were reported ASD patients in this study. The authors state that they did not observe other potential pathogenic mutations in other ASD risk genes sequenced in this study in the patients with RALGAPB de novo mutations.
  • PUBMED: 23934111
    Allen AS et. al., 2013 . This group reported a screen for de novo variants in patients with classic epileptic encephalopathies. They sequenced the exomes of 264 trios, and confirmed 329 de novo variants. Among those, a de novo nonsense mutation (g. 37195781C>G) identified in gene RALGAPB in trio # CQ. In trio # CQ, two other de novo missense variants (predicted to be damaging) were also identified, one in NLGN2 and the other one in NLRP5.
  • PUBMED: 25363760
    De Rubeis S et. al., 2014. This group conducted ASD WES study, sequenced 3976 ASD subjects (including 2303 trios), and 6059 unrelated controls. In patient #DEASD_0338_001, a de novo frameshift variant (g. 37137843CAT>C) was identified. Meanwhile, a de novo missense variant in LPHN1 was also found in this patient.
HI Evidence Comments:
gnomAD pLI score is 1, may be considered evidence supporting HI. Even though there is still not enough evidence to support HI based on new guideline, so HI score is assigned as 1.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000020.10) (NC_000020.11)