• 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
ROBO1 (HGNC:10249) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
roundabout guidance receptor 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
DUTT1, FLJ21882, SAX3
%HI
3.33(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.6(Read more about gnomAD LOEUF score)
Cytoband
3p12.3
Genomic Coordinates
GRCh37/hg19: chr3:78646389-79817148 NCBI Ensembl UCSC
GRCh38/hg38: chr3:78597239-79767998 NCBI Ensembl UCSC
MANE Select Transcript
NM_002941.4 ENST00000464233.6 (Read more about MANE Select)
Function
Receptor for SLIT1 and SLIT2 that mediates cellular responses to molecular guidance cues in cellular migration, including axonal navigation at the ventral midline of the neural tube and projection of axons to different regions during neuronal development (PubMed:10102268, PubMed:24560577). Interaction with the intracellular domain of FLRT3 mediates axon attraction towards cells expressing NTN1 (PubMed:24560577). In axon growth cones, the silencing of the attractive effect of NTN1 by SLIT2 may re... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-6259
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
09/25/2018

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence:
  • PUBMED: 16254601
    Hannula-Jouppi et al. (2005): The authors propose that two functional copies of ROBO1 are required in brain development to acquire normal reading ability, and partial haploinsufficiency for ROBO1 may predispose humans to specific dyslexia. This was based upon the finding of a disruption by translocation of ROBO1 in dyslexic patient, and the finding of allele-specific, reduced expression in dyslexic individuals of a large pedigree.
HI Evidence Comments:
There is currently no additional published support for haploinsufficiency of ROBO1. It remains a candidate gene for dyslexia, primarily through association studies.

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000003.11) (NC_000003.12)