t(7;17)(q21;q21) COL1A1/COL1A2

0000-00-00   Jean-Loup Huret  , Philippe Dessen  

(Note: the fusion was discovered by NGS. Many chromosome rearrangement mechanisms such as translocation, inversion,deletion or complex rearrangement may lead to the same fusion)

Note

Non-annotated chromosomal abnormality. Preliminary data :
if you are an author who wish to write a full paper/card on this translocation,go to u00a0How to contribute

Summary

Note

Non-annotated chromosomal abnormality. Preliminary data :
if you are an author who wish to write a full paper/card on this translocation,go to  How to contribute

Genes Involved and Proteins

Gene name

COL1A1

Location

17q21.33

Gene name

COL1A2

Location

7q21.3

Highly cited references

Pubmed IDYearTitleCitations
191529762009Connective tissue and related disorders and preterm birth: clues to genes contributing to prematurity.137
357394922022Comprehensive bioinformatic analysis reveals a cancer-associated fibroblast gene signature as a poor prognostic factor and potential therapeutic target in gastric cancer.97
339252292021Skeletal Muscle Proteomic Profile Revealed Gender-Related Metabolic Responses in a Diet-Induced Obesity Animal Model.89
380411302023Identification of differentially expressed genes associated with the pathogenesis of gastric cancer by bioinformatics analysis.89
360322792022Metallopeptidades 2 and 9 genes epigenetically modulate equine endometrial fibrosis.86
386725622024Investigating the Role of SNAI1 and ZEB1 Expression in Prostate Cancer Progression and Immune Modulation of the Tumor Microenvironment.83
375375662023Transcriptome profiling analysis of uterus during chicken laying periods.83
302838862018Genetic Risk Factors for Atypical Femoral Fractures (AFFs): A Systematic Review.82
356285872022Whole Aspect of Runx2 Functions in Skeletal Development.79
386109592024Identification of Key Genes Associated with Tumor Microenvironment Infiltration and Survival in Gastric Adenocarcinoma via Bioinformatics Analysis.75
387372622024Prediction of novel biomarkers for gastric intestinal metaplasia and gastric adenocarcinoma using bioinformatics analysis.73
387105232024Benfotiamine improves dystrophic pathology and exercise capacity in mdx mice by reducing inflammation and fibrosis.72
368108722023Cancer-associated fibroblasts are the main contributors to epithelial-to-mesenchymal signatures in the tumor microenvironment.66
352348132022Fibrillar Collagen Variants in Spontaneous Coronary Artery Dissection.64
359567642022MALDI-MSI: A Powerful Approach to Understand Primary Pancreatic Ductal Adenocarcinoma and Metastases.64
390183822024Extracellular Matrix Protein Signatures of the Outer and Inner Zones of the Rat Adrenal Cortex.62
383919732024Pharmacological Stimulation of Soluble Guanylate Cyclase Counteracts the Profibrotic Activation of Human Conjunctival Fibroblasts.61
395080462024Clopidogrel ameliorates high-fat diet-induced hepatic steatosis in mice through activation of the AMPK signaling pathway and beyond.61
371069182023Comparative Analysis of Epididymis Cauda of Yak before and after Sexual Maturity.59
390069432024Novel role of Quercetin in ameliorating metabolic syndrome via VDR mediated activation of adiponectin/AdipoR2 signaling.57
333283852020Prenatal inflammation enhances antenatal corticosteroid-induced fetal lung maturation.57
350594542021Collagen and Microvascularization in Placentas From Young and Older Mares.56
374829082023Protocatechuic acid prevents isoproterenol-induced heart failure in mice by downregulating kynurenine-3-monooxygenase.54
322340572020Mutations in COL1A1/A2 and CREB3L1 are associated with oligodontia in osteogenesis imperfecta.54
382007382023Full-Length Transcriptome and Gene Expression Analysis of Different Ovis aries Adipose Tissues Reveals Transcript Variants Involved in Lipid Biosynthesis.54
392721042024Differentially expressed extracellular matrix genes functionally separate ameloblastoma from odontogenic keratocyst.54
368195252023Prediction and analysis of osteoarthritis hub genes with bioinformatics.53
308046592019Injury induces endothelial to mesenchymal transition in the mouse corneal endothelium in vivo via FGF2.51
359095732022Comparing Clinical and Genetic Characteristics of De Novo and Inherited COL1A1/COL1A2 Variants in a Large Chinese Cohort of Osteogenesis Imperfecta.50
351728112022Influence of type I collagen polymorphisms and risk of anterior cruciate ligament rupture in athletes: a case-control study.50
342902662021MicroRNA-513b-5p targets COL1A1 and COL1A2 associated with the formation and rupture of intracranial aneurysm.46
381247142023Spatial gene expression in the adult rat patellar tendon.44
356002742022NR4A1 inhibits the epithelial-mesenchymal transition of hepatic stellate cells: Involvement of TGF-β-Smad2/3/4-ZEB signaling.44
384758602024Echocardiographic abnormalities and joint hypermobility in Chinese patients with Osteogenesis imperfecta.44
358642072022Prevention of bleomycin-induced pulmonary fibrosis by a RANKL peptide in mice.43
376094852023Early transcriptome changes associated with western diet induced NASH in Ldlr(-/-) mice points to activation of hepatic macrophages and an acute phase response.43
341684872021Bioinformatic Analysis of Hepatocellular Carcinoma Cell Lines to the Efficacy of Nimotuzumab.43
318763922020Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study.43
389215862024Avellanin A Has an Antiproliferative Effect on TP-Induced RWPE-1 Cells via the PI3K-Akt Signalling Pathway.42
365534782022Transcriptomic Study of Spermatogenesis in the Testis of Hu Sheep and Tibetan Sheep.42
380365082023The C-type lectin COLEC10 is predominantly produced by hepatic stellate cells and involved in the pathogenesis of liver fibrosis.41
282666602017High glucose alters tendon homeostasis through downregulation of the AMPK/Egr1 pathway.41
363394002022Cardiovascular abnormalities and its correlation with genotypes of children with osteogenesis imperfecta.40
353608632022Identification of Prognosis Biomarkers for High-Grade Serous Ovarian Cancer Based on Stemness.40
360344462022Comprehensive analysis of endoplasmic reticulum-related and secretome gene expression profiles in the progression of non-alcoholic fatty liver disease.38
375077742023Tongbi Huoluo Decoction alleviates cartilage degeneration in knee osteoarthritis by inhibiting degradation of extracellular matrix.38
307233902019Bladder cancer stage-associated hub genes revealed by WGCNA co-expression network analysis.38
352508762022Clinical Characteristics of Short-Stature Patients With Collagen Gene Mutation and the Therapeutic Response to rhGH.37
373256172023A multifactorial analysis of FAP to regulate gastrointestinal cancers progression.37
356689502022Proteomic Study on the Reproductive Toxicity of Tripterygium Glycosides in Rats.36
314298522019Osteogenesis imperfecta in Brazilian patients.34
312857652019Up-regulation of PCOLCE by TWIST1 promotes metastasis in Osteosarcoma.34
390343102024Refining the optimal CAF cluster marker for predicting TME-dependent survival expectancy and treatment benefits in NSCLC patients.33
356472032022Mutational Screening of Skeletal Genes in 14 Chinese Children with Osteogenesis Imperfecta Using Targeted Sequencing.33
389265412024Clinical spectrum of rare bone fragility disorders and response to bisphosphonate treatment: a retrospective study.32
325660072020Clinical significance of COL1A1 and COL1A2 expression levels in hypopharyngeal squamous cell carcinoma.31
359564632022Investigation of Morinda citrifolia Activities through Pinoresinol and α-EG Related Gene Expression.31
29306681989Genetic evidence that mutations in the COL1A1, COL1A2, COL3A1, or COL5A2 collagen genes are not responsible for mitral valve prolapse.31
373842512023Potential alternative drug treatment for bone giant cell tumor.30
383133562023Extracellular matrix is the main targeted environment in early stage of pancreatic ductal adenocarcinoma.25
350444922022Clinical severity prediction in children with osteogenesis imperfecta caused by COL1A1/2 defects.23
271463422016Osteoblastic differentiation of bone marrow mesenchymal stromal cells in Bruck Syndrome.23
345570342021Differential Expression of COL1A1, COL1A2, COL6A3, and SULF1 as Prognostic Biomarkers in Gastric Cancer.22
275098352016DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum.0
370790612023Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.0
310394332019Mendelian bone fragility disorders.0
314142832020Mutation spectrum of COL1A1/COL1A2 screening by high-resolution melting analysis of Chinese patients with osteogenesis imperfecta.0
356573802022Pubertal growth in osteogenesis imperfecta caused by pathogenic variants in COL1A1/COL1A2.0
391030592024Integrative analysis of single-Cell RNA sequencing and experimental validation in the study of abdominal aortic aneurysm progression.0
389534122024Effectiveness of whole exome sequencing analyses in the molecular diagnosis of osteogenesis imperfecta.0
392124552024Rare diseases: a challenge in paediatric dentistry.0
216673572012The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta.0
383464092024Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta.0
161232402005Expression of Col1a1, Col1a2 and procollagen I in germ cells of immature and adult mouse testis.0
385619342024Prenatal ultrasound findings and prenatal diagnosis of fetal skeletal dysplasia.0
393525502024Bone development by Hedgehog and Wnt signaling, Runx2, and Sp7.0
175529402007Developmental biology and genetics of dental malformations.0
398120672025COL1A1, COL1A2, CHN1, and FN1 Promote Tumorogenesis and Act as Markers of Diagnosis and Survival in Gastric Cancer Patients.0
369312002023Identification of key genes in colorectal cancer diagnosis by co-expression analysis weighted gene co-expression network analysis.0
293883282018Genotype and malocclusion in patients with osteogenesis imperfecta.0
269273102016Scoliosis in osteogenesis imperfecta caused by COL1A1/COL1A2 mutations - genotype-phenotype correlations and effect of bisphosphonate treatment.0
317940582020COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap.0
113173642001Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV.0
196496552010Regulation of bone development and extracellular matrix protein genes by RUNX2.0
272563332016Skeletal phenotypes in adult patients with osteogenesis imperfecta-correlations with COL1A1/COL1A2 genotype and collagen structure.0
331256402021Icaritin Inhibits Skin Fibrosis through Regulating AMPK and Wnt/β-catenin Signaling.0
360011132022TGF-β1/Smad3 upregulates UCA1 to promote liver fibrosis through DKK1 and miR18a.0
2546516120152-Methoxyestradiol inhibits bleomycin-induced systemic sclerosis through suppression of fibroblast activation.0
16845601991Exclusion of COL1A1, COL1A2, and COL3A1 genes as candidate genes for Ehlers-Danlos syndrome type I in one large family.0
178750772007Mutations in type I collagen genes in Japanese osteogenesis imperfecta patients.0
265665912015What every clinical geneticist should know about testing for osteogenesis imperfecta in suspected child abuse cases.0
355501812022Genotype-Phenotype Relationship and Follow-up Analysis of a Chinese Cohort With Osteogenesis Imperfecta.0
158647152005Molecular-pathological prognostic factors of gastric cancer: a review.0
348142492021Contribution of endothelial cell-derived transcriptomes to the colon cancer based on bioinformatics analysis.0
321239382020The molecular landscape of osteogenesis imperfecta in a Brazilian tertiary service cohort.0
375581192023Chronic exposure to environmentally relevant concentration of fluoride impairs osteoblast's collagen synthesis and matrix mineralization: Involvement of epigenetic regulation in skeletal fluorosis.0
350674922022Mining the Biomarkers and Associated-Drugs for Esophageal Squamous Cell Carcinoma by Bioinformatic Methods.0
356543502022Danhe granule ameliorates nonalcoholic steatohepatitis and fibrosis in rats by inhibiting ceramide de novo synthesis related to CerS6 and CerK.0
365758912023Poly-L-Lactic acid increases collagen gene expression and synthesis in cultured dermal fibroblast (Hs68) through the TGF-β/Smad pathway.0
393161352024Early-Onset Osteoporosis: Molecular Analysis in Large Cohort and Focus on the PLS3 Gene.0

Article Bibliography

Pubmed IDLast YearTitleAuthors
245645482013Identification of gene fusions from human lung cancer mass spectrometry data.Sun H et al

Citation

Jean-Loup Huret ; Philippe Dessen

t(7;17)(q21;q21) COL1A1/COL1A2

Atlas Genet Cytogenet Oncol Haematol. 0000-00-00

Online version: http://atlasgeneticsoncology.org/solid-tumor/107463/t(7;17)(q21;q21)-col1a1-col1a2