RPH3A |
- 1
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- RPH3A (HGNC:17056) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- rabphilin 3A
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- KIAA0985, rabphilin, exophilin-1
- %HI
- 42.44(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.64(Read more about gnomAD LOEUF score)
- Cytoband
- 12q24.13
- Genomic Coordinates
-
GRCh37/hg19: chr12:113013040-113336686 NCBI Ensembl UCSC GRCh38/hg38: chr12:112575236-112898881 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001143854.2 ENST00000389385.9 (Read more about MANE Select)
- Function
- Plays an essential role in docking and fusion steps of regulated exocytosis (By similarity). At the presynaptic level, RPH3A is recruited by RAB3A to the synaptic vesicle membrane in a GTP- dependent manner where it modulates synaptic vesicle trafficking and calcium-triggered neurotransmitter release (By similarity). In the post-synaptic compartment, forms a ternary complex with GRIN2A and DLG4 and regulates NMDA receptor stability. Also plays a role in the exocytosis of arginine vasopressin hor... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-2209
ClinGen Curation ID:
CCID:007781
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Little Evidence for Haploinsufficiency
(1)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
07/25/2018
Haploinsufficiency (HI) Score Details
HI Score:
1
HI Evidence Strength:
Little Evidence for Haploinsufficiency
(Disclaimer)
HI Evidence:
-
PUBMED:
28263302
Yuen et al. 2017 - WGS study of families with autism identified 1 instance of a de novo nonsense mutation.
-
PUBMED:
22083728
Kirov et al. 2012 - study of copy number variants in patients with schizophrenia which found a patient with a likely loss of function de novo deletion of 3 exons in RPH3A.
HI Evidence Comments:
Two separate reports of loss of function mutations, but in patients with varying phenotypes. Missense mutations have been reported in patients with cognitive and/or behavioral phenotypes as well. Bowling et al. 2017 (PMID 28554332) found a de novo VUS in RPH3A in a patient with intellectual disability, speech delay, hypotonia and seizures. Iossifov et al. 2014 (PMID 25363768) identified a missense mutation in RPH3A in a patient with autism. In addition, potential biallelic loss of function mutations in RPH3A were identified by Maselli et al. 2018 (PMID 29441694) in a patient with learning disabilities, tremors, ataxia, transient hyperglycemia and muscle fatigability. Parents were apparently unaffected.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000012.11)
(NC_000012.12)