DSCR9 Gene

Name Down syndrome critical region 9 (non-protein coding)
Summary
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n DSCR9 is a primate‐specific gene located within the Down syndrome critical region (DSCR) on chromosome 21. Initial cloning and computational analyses identified DSCR9 as being preferentially expressed in testis, and subsequent studies in non‐human primates confirmed its expression in additional tissues such as placenta and kidney."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " Although its precise molecular function remains unclear, integrative co‐expression network analyses have implicated DSCR9 in the regulation of neuronal signaling and calcium pathways, suggesting a potential role in modulating neuroactive ligand–receptor interactions and other processes relevant to the neurological manifestations observed in Down syndrome and other neurodevelopmental disorders."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " In addition, genetic association studies have identified DSCR9 as a promising candidate gene for complex human traits; for instance, variants in DSCR9 have been linked to quantitative differences in iris pigmentation."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " Moreover, altered expression of DSCR9 has been observed as part of panels of long noncoding RNAs (lncRNAs) that serve as potential biomarkers in diseases such as rheumatoid arthritis"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": "and in prognostic risk score systems for cancers including pancreatic"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": "and breast cancer."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": " Collectively, these findings suggest that DSCR9 may play diverse regulatory roles—ranging from participation in neurodevelopmental pathways to serving as a potential biomarker in complex traits and disease prognostics—in primate biology.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Kunihiko Takamatsu, Kohei Maekawa, Takushi Togashi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of two novel primate-specific genes in DSCR."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "DNA Res (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/dnares/9.3.89"}], "href": "https://doi.org/10.1093/dnares/9.3.89"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12168953"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12168953"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Irám Pablo Rodriguez-Sanchez, María Lourdes Garza-Rodríguez, María Elizabeth Tejero, et al. "}, {"type": "b", "children": [{"type": "t", "text": "DSCR9 gene simultaneous expression in placental, testicular and renal tissues from baboon (Papio hamadryas)."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Res Notes (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/1756-0500-5-298"}], "href": "https://doi.org/10.1186/1756-0500-5-298"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22704171"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22704171"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Min Chen, Jiayan Wang, Yingjun Luo, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "lncRNA expression profiles related to apoptosis and autophagy in peripheral blood mononuclear cells of patients with rheumatoid arthritis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "FEBS Open Bio (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/2211-5463.12913"}], "href": "https://doi.org/10.1002/2211-5463.12913"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32569434"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32569434"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Hongkai Zhuang, Shanzhou Huang, Zixuan Zhou, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A four prognosis-associated lncRNAs (PALnc) based risk score system reflects immune cell infiltration and predicts patient survival in pancreatic cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cancer Cell Int (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s12935-020-01588-y"}], "href": "https://doi.org/10.1186/s12935-020-01588-y"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33061845"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33061845"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Zijian Liu, Mi Mi, Xiaoqian Li, et al. 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Synonyms NCRNA00038
Proteins DSCR9_HUMAN
NCBI Gene ID 257203
API
Download Associations
Predicted Functions View DSCR9's ARCHS4 Predicted Functions.
Co-expressed Genes View DSCR9's ARCHS4 Predicted Functions.
Expression in Tissues and Cell Lines View DSCR9's ARCHS4 Predicted Functions.

Functional Associations

DSCR9 has 1,120 functional associations with biological entities spanning 6 categories (molecular profile, organism, chemical, functional term, phrase or reference, cell line, cell type or tissue, gene, protein or microRNA) extracted from 23 datasets.

Click the + buttons to view associations for DSCR9 from the datasets below.

If available, associations are ranked by standardized value

Dataset Summary
Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray tissue samples with high or low expression of DSCR9 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq tissue samples with high or low expression of DSCR9 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
CCLE Cell Line Gene CNV Profiles cell lines with high or low copy number of DSCR9 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
ChEA Transcription Factor Binding Site Profiles transcription factor binding site profiles with transcription factor binding evidence at the promoter of DSCR9 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
ChEA Transcription Factor Targets transcription factors binding the promoter of DSCR9 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
COSMIC Cell Line Gene CNV Profiles cell lines with high or low copy number of DSCR9 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
ENCODE Histone Modification Site Profiles histone modification site profiles with high histone modification abundance at DSCR9 gene from the ENCODE Histone Modification Site Profiles dataset.
ENCODE Transcription Factor Binding Site Profiles transcription factor binding site profiles with transcription factor binding evidence at the promoter of DSCR9 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
ENCODE Transcription Factor Targets transcription factors binding the promoter of DSCR9 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
GEO Signatures of Differentially Expressed Genes for Gene Perturbations gene perturbations changing expression of DSCR9 gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset.
GEO Signatures of Differentially Expressed Genes for Kinase Perturbations kinase perturbations changing expression of DSCR9 gene from the GEO Signatures of Differentially Expressed Genes for Kinase Perturbations dataset.
GEO Signatures of Differentially Expressed Genes for Small Molecules small molecule perturbations changing expression of DSCR9 gene from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset.
GEO Signatures of Differentially Expressed Genes for Viral Infections virus perturbations changing expression of DSCR9 gene from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.
GTEx Tissue Gene Expression Profiles tissues with high or low expression of DSCR9 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset.
Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles cell lines with high or low expression of DSCR9 gene relative to other cell lines from the Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles dataset.
JASPAR Predicted Transcription Factor Targets transcription factors regulating expression of DSCR9 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset.
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles cell lines with high or low copy number of DSCR9 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset.
KnockTF Gene Expression Profiles with Transcription Factor Perturbations transcription factor perturbations changing expression of DSCR9 gene from the KnockTF Gene Expression Profiles with Transcription Factor Perturbations dataset.
LOCATE Predicted Protein Localization Annotations cellular components predicted to contain DSCR9 protein from the LOCATE Predicted Protein Localization Annotations dataset.
MotifMap Predicted Transcription Factor Targets transcription factors regulating expression of DSCR9 gene predicted using known transcription factor binding site motifs from the MotifMap Predicted Transcription Factor Targets dataset.
Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles cell types and tissues with high or low DNA methylation of DSCR9 gene relative to other cell types and tissues from the Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles dataset.
Roadmap Epigenomics Histone Modification Site Profiles histone modification site profiles with high histone modification abundance at DSCR9 gene from the Roadmap Epigenomics Histone Modification Site Profiles dataset.
TCGA Signatures of Differentially Expressed Genes for Tumors tissue samples with high or low expression of DSCR9 gene relative to other tissue samples from the TCGA Signatures of Differentially Expressed Genes for Tumors dataset.