ROBO1 |
- 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
- 0.86(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
ClinGen Curation ID:
CCID:007774
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)