EFNB1 |
Gene Facts External Data Attribution
- HGNC Symbol
- EFNB1 (HGNC:3226) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- ephrin B1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- EPLG2, CFNS
- Alias symbols
- LERK2, Elk-L
- %HI
- 5.79(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.93(Read more about gnomAD pLI score)
- LOEUF
- 0.35(Read more about gnomAD LOEUF score)
- Cytoband
- Xq13.1
- Genomic Coordinates
-
GRCh37/hg19: chrX:68048864-68062003 NCBI Ensembl UCSC GRCh38/hg38: chrX:68829021-68842160 NCBI Ensembl UCSC - MANE Select Transcript
- NM_004429.5 ENST00000204961.5 (Read more about MANE Select)
- Function
- Cell surface transmembrane ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development (PubMed:8070404, PubMed:7973638). Binding to Eph receptors residing on adjacent cells leads to contact-dependent bidirectional signaling into neighboring cells (PubMed:8070404, PubMed:7973638). Shows high affinity for the receptor tyrosine kinase EPHB1/ELK (PubMed:8070404, PubMed:7973638). Can also ... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-12464
ClinGen Curation ID:
CCID:007054
Curation Status:
Reopened
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Reopened
Triplosensitivity:
Reopened
Last Evaluated:
Reopened
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000023.10)
(NC_000023.11)