SHOX |
Gene Facts External Data Attribution
- HGNC Symbol
- SHOX (HGNC:10853) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- SHOX homeobox
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- PHOG, GCFX, SS, SHOXY, SHOX1
- %HI
- 76.05(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.67(Read more about gnomAD pLI score)
- LOEUF
- 0.52(Read more about gnomAD LOEUF score)
- Cytoband
- Xp22.33 and Yp11.32
- Genomic Coordinates
-
GRCh37/hg19: chrY:535079-570146 NCBI Ensembl UCSC GRCh38/hg38: chrY:624344-659411 NCBI Ensembl UCSC - MANE Select Transcript
- NM_000451.4 ENST00000686671.1 (Read more about MANE Select)
- Function
- Controls fundamental aspects of growth and development. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-25281
Curation Status:
Under Group Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Under Group Review
Triplosensitivity:
Under Group Review
Assoc. with Reduced Penetrance:
Under Group Review
The penetrance of SHOX deficiency is high, but its clinical expression is very variable becoming more pronounced with age and being more severe in females (PMID: 21325865)
Last Evaluated:
Under Group Review
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)