Identity
HGNC
LOCATION
9p22.2
LOCUSID
ALIAS
ADAMTSL-1,ADAMTSR1,C9orf94,PUNCTIN
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 92949
MIM: 609198
HGNC: 14632
Ensembl: ENSG00000178031
Variants:
dbSNP: 92949
ClinVar: 92949
TCGA: ENSG00000178031
COSMIC: ADAMTSL1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 30714143 | 2019 | ADAMTSL1 and mandibular prognathism. | 6 |
| 30714143 | 2019 | ADAMTSL1 and mandibular prognathism. | 6 |
| 28722276 | 2017 | Identification and functional analysis of an ADAMTSL1 variant associated with a complex phenotype including congenital glaucoma, craniofacial, and other systemic features in a three-generation human pedigree. | 12 |
| 29158497 | 2017 | Germline variation in ADAMTSL1 is associated with prognosis following breast cancer treatment in young women. | 15 |
| 28722276 | 2017 | Identification and functional analysis of an ADAMTSL1 variant associated with a complex phenotype including congenital glaucoma, craniofacial, and other systemic features in a three-generation human pedigree. | 12 |
| 29158497 | 2017 | Germline variation in ADAMTSL1 is associated with prognosis following breast cancer treatment in young women. | 15 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
| 20628086 | 2010 | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. | 15 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
| 20628086 | 2010 | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. | 15 |
| 19671700 | 2009 | Post-translational modification of thrombospondin type-1 repeats in ADAMTS-like 1/punctin-1 by C-mannosylation of tryptophan. | 31 |
| 19824886 | 2009 | Association and interaction analyses of eight genes under asthma linkage peaks. | 4 |
| 19913121 | 2009 | Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. | 105 |
| 19671700 | 2009 | Post-translational modification of thrombospondin type-1 repeats in ADAMTS-like 1/punctin-1 by C-mannosylation of tryptophan. | 31 |
| 19824886 | 2009 | Association and interaction analyses of eight genes under asthma linkage peaks. | 4 |
Citation
Dessen P
ADAMTSL1 (ADAMTS like 1)
Atlas Genet Cytogenet Oncol Haematol. 2007-04-01
Online version: http://atlasgeneticsoncology.org/gene/46643/adamtsl1
