ROBO3 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- ROBO3 (HGNC:13433) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- roundabout guidance receptor 3
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- HGPPS
- Alias symbols
- RBIG1, FLJ21044, HGPS
- %HI
- 48.29(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.75(Read more about gnomAD LOEUF score)
- Cytoband
- 11q24.2
- Genomic Coordinates
-
GRCh37/hg19: chr11:124735328-124751367 NCBI Ensembl UCSC GRCh38/hg38: chr11:124865432-124881471 NCBI Ensembl UCSC - MANE Select Transcript
- NM_022370.4 ENST00000397801.6 (Read more about MANE Select)
- Function
- Receptor involved in axon guidance during development (PubMed:15105459). Acts as a multifunctional regulator of pathfinding that simultaneously mediates NELL2 repulsion, inhibits SLIT repulsion, and facilitates Netrin-1/NTN1 attraction. In spinal cord development plays a role in guiding commissural axons probably by preventing premature sensitivity to Slit proteins thus inhibiting Slit signaling through ROBO1/ROBO2. Binding OF NELL2 to the receptor ROBO3 promotes oligomerization of ROBO3, result... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-13733
ClinGen Curation ID:
CCID:007775
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- gaze palsy, familial horizontal, with progressive scoliosis 1 Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000011.9)
(NC_000011.10)