| Name | LBX1 antisense RNA 1 (head to head) |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n LBX1‐AS1 is a long non‐coding RNA residing at the 10q24.32 locus that has emerged as one of the key genetic elements linked to adolescent idiopathic scoliosis (AIS). Several genome‐wide association studies have demonstrated that polymorphisms in this region are significantly associated with AIS susceptibility. In particular, one study hypothesized that a risk allele (the T allele of rs1322331) may predispose individuals to AIS by reducing LBX1‐AS1 transcription, which in turn leads to the upregulation of LBX1 function; altered LBX1 activity has been implicated in defects in embryonic body axis formation and convergent extension, likely through disruption of non‐canonical Wnt/planar cell polarity signaling pathways (see"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "and."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": " Furthermore, additional genetic studies in diverse populations have replicated the strong association of the LBX1/ LBX1‐AS1 region with disease onset, supporting a model in which dysregulation of LBX1 by its antisense transcript contributes to AIS pathogenesis."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "3", "end_ref": "5"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In summary, LBX1‐AS1 appears to function as a regulatory non‐coding RNA—its normal transcriptional levels may act to modulate LBX1 expression during critical periods of spinal development. Alterations in LBX1‐AS1 transcription likely disturb the finely tuned balance of LBX1 activity, thereby contributing to the structural defects observed in AIS.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Sen Liu, Nan Wu, Yuzhi Zuo, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genetic Polymorphism of LBX1 Is Associated With Adolescent Idiopathic Scoliosis in Northern Chinese Han Population."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Spine (Phila Pa 1976) (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1097/BRS.0000000000002111"}], "href": "https://doi.org/10.1097/BRS.0000000000002111"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28187071"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28187071"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Long Guo, Hiroshi Yamashita, Ikuyo Kou, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Functional Investigation of a Non-coding Variant Associated with Adolescent Idiopathic Scoliosis in Zebrafish: Elevated Expression of the Ladybird Homeobox Gene Causes Body Axis Deformation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS Genet (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pgen.1005802"}], "href": "https://doi.org/10.1371/journal.pgen.1005802"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26820155"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26820155"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Y Qiu "}, {"type": "b", "children": [{"type": "t", "text": "[The current review and prospects of the genetic study and clinical treatment of adolescent idiopathic scoliosis]."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Zhonghua Wai Ke Za Zhi (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3760/cma.j.issn.0529-5815.2018.08.005"}], "href": "https://doi.org/10.3760/cma.j.issn.0529-5815.2018.08.005"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30107698"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30107698"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Gene Chi-Wai Man, Nelson Leung-Sang Tang, Ting Fung Chan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Replication Study for the Association of GWAS-associated Loci With Adolescent Idiopathic Scoliosis Susceptibility and Curve Progression in a Chinese Population."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Spine (Phila Pa 1976) (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1097/BRS.0000000000002866"}], "href": "https://doi.org/10.1097/BRS.0000000000002866"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30234802"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30234802"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Zezhang Zhu, Nelson Leung-Sang Tang, Leilei Xu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genome-wide association study identifies new susceptibility loci for adolescent idiopathic scoliosis in Chinese girls."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Commun (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ncomms9355"}], "href": "https://doi.org/10.1038/ncomms9355"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26394188"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26394188"}]}]}]}
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| Synonyms | MUSE |
| NCBI Gene ID | 399806 |
| API | |
| Download Associations | |
| Predicted Functions |
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| Co-expressed Genes |
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| Expression in Tissues and Cell Lines |
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LBX1-AS1 has 237 functional associations with biological entities spanning 3 categories (disease, phenotype or trait, cell line, cell type or tissue, gene, protein or microRNA) extracted from 6 datasets.
Click the + buttons to view associations for LBX1-AS1 from the datasets below.
If available, associations are ranked by standardized value
| Dataset | Summary | |
|---|---|---|
| Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of LBX1-AS1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset. | |
| CCLE Cell Line Gene CNV Profiles | cell lines with high or low copy number of LBX1-AS1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset. | |
| dbGAP Gene-Trait Associations | traits associated with LBX1-AS1 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. | |
| GEO Signatures of Differentially Expressed Genes for Gene Perturbations | gene perturbations changing expression of LBX1-AS1 gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
| GTEx Tissue Gene Expression Profiles | tissues with high or low expression of LBX1-AS1 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset. | |
| Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles | cell lines with high or low copy number of LBX1-AS1 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset. | |