RABL2A |
- 40
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- RABL2A (HGNC:9799) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- RAB, member of RAS oncogene family like 2A
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- No aliases found
- %HI
- 74.97(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.62(Read more about gnomAD LOEUF score)
- Cytoband
- 2q14.1
- Genomic Coordinates
-
GRCh37/hg19: chr2:114384843-114400969 NCBI Ensembl UCSC GRCh38/hg38: chr2:113627266-113643392 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001306158.2 ENST00000683472.1 (Read more about MANE Select)
- Function
- Plays an essential role in male fertility, sperm intra- flagellar transport, and tail assembly. Binds, in a GTP-regulated manner, to a specific set of effector proteins including key proteins involved in cilia development and function and delivers them into the growing sperm tail. {ECO:0000250|UniProtKB:E9Q9D5}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-15543
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Dosage Sensitivity Unlikely
(40)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
02/02/2021
Haploinsufficiency (HI) Score Details
HI Score:
40
HI Evidence Strength:
Dosage Sensitivity Unlikely
(Disclaimer)
HI Evidence:
-
PUBMED:
32487729
Rausell et al. (2020) suggested that this gene is dosage sensitivity unlikely because it had at least one homozygous LoF variant present in >1% of the gnomAD population. An example of a homozygous LoF variant in this gene in gnomAD include p.Ala78GlnfsTer35 (300 homozygous individuals).
-
PUBMED:
25807282
Sulem et al. (2015) identified 23 individuals in an Icelandic population with a homozygous LoF variant in this gene. This population was participating in a variety of disease projects and the researchers pulled this population to investigate how often homozygous LoF variants were found in this population.
-
PUBMED:
32461654
Karczewski et al. (2020) identifies 443,769 high confidence loss of function variants in the Genome Aggregation Database (gnomAD) population including this variant (p.Ala78GlnTer35). Several methods were used to identify these genes including manual curation and utilizing LOEUF scores.
HI Evidence Comments:
This gene was classified as dosage sensitivity unlikely on 2/2/2021 based on review of population data as described in the PMIDs above. These genes all have at least one curated homozygous loss of function variant in 1% or greater of the gnomAD population dataset and some have also been observed in additional population datasets. As of January 2021, there are no disease associations found in OMIM, and no reports suggesting a Mendelian disease association in the literature.
The gnomAD pLI score is 0 and the LOEUF score is 1.62 predicting that this gene is tolerant of LoF variation.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000002.11)
(NC_000002.12)