| Name | CRHR1 intronic transcript 1 |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n CRHR1‐IT1 is an intronic noncoding transcript produced from the CRHR1 genomic locus, which is located in the complex 17q21.31 region. Although none of the provided abstracts investigate CRHR1‐IT1 directly, several studies of this region shed light on its likely regulatory role. The 17q21.31 interval is notable for an inversion polymorphism and recurrent microdeletions that affect multiple genes (for example, MAPT, CRHR1, and KANSL1) known to influence neurological development and neurodegeneration. In these studies, genomic structural variation and transcriptional regulatory analyses in subjects with neurodegenerative disorders and related traits highlight that noncoding elements within this region, including CRHR1‐IT1, may serve as modulators of gene expression and chromatin organization, thereby influencing disease susceptibility."}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Specifically, the disruption or altered expression of regulatory transcripts in the 17q21.31 region has been implicated in disorders such as Parkinson’s disease, Alzheimer’s disease, and neurodevelopmental syndromes. Given its genomic context, CRHR1‐IT1 is postulated to contribute to the fine‐tuning of stress response and neuronal function through cis‐regulatory mechanisms, in concert with protein‐coding genes that are functionally linked to neuronal integrity and synaptic plasticity. These insights come from integrative studies that document the clinical impact of structural variants and gene expression changes in this locus (see."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n In summary, although direct functional studies of CRHR1‐IT1 remain to be performed, current genomic and transcriptomic data support a role for this noncoding RNA in modulating local gene expression and chromatin architecture within an evolutionarily dynamic region associated with several neuropsychiatric and neurodegenerative conditions. Future investigations that specifically target CRHR1‐IT1 will be necessary to fully clarify its biological functions and its potential contribution to disease pathogenesis.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "D A Koolen, A J Sharp, J A Hurst, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Clinical and molecular delineation of the 17q21.31 microdeletion syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Med Genet (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1136/jmg.2008.058701"}], "href": "https://doi.org/10.1136/jmg.2008.058701"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18628315"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18628315"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Jennifer Permuth-Wey, Kate Lawrenson, Howard C Shen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Commun (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ncomms2613"}], "href": "https://doi.org/10.1038/ncomms2613"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23535648"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23535648"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "G Jun, C A Ibrahim-Verbaas, M Vronskaya, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A novel Alzheimer disease locus located near the gene encoding tau protein."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Psychiatry (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/mp.2015.23"}], "href": "https://doi.org/10.1038/mp.2015.23"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25778476"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25778476"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Frederik Sündermann, Maria-Pilar Fernandez, Reginald O Morgan "}, {"type": "b", "children": [{"type": "t", "text": "An evolutionary roadmap to the microtubule-associated protein MAP Tau."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Genomics (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s12864-016-2590-9"}], "href": "https://doi.org/10.1186/s12864-016-2590-9"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27030133"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27030133"}]}]}]}
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| Synonyms | LINC02210, C17ORF69 |
| Proteins | CRIT1_HUMAN |
| NCBI Gene ID | 147081 |
| 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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CRHR1-IT1 has 1,646 functional associations with biological entities spanning 7 categories (molecular profile, organism, functional term, phrase or reference, disease, phenotype or trait, chemical, cell line, cell type or tissue, gene, protein or microRNA) extracted from 30 datasets.
Click the + buttons to view associations for CRHR1-IT1 from the datasets below.
If available, associations are ranked by standardized value
| Dataset | Summary | |
|---|---|---|
| Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of CRHR1-IT1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset. | |
| Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of CRHR1-IT1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset. | |
| BioGPS Human Cell Type and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of CRHR1-IT1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset. | |
| CCLE Cell Line Gene CNV Profiles | cell lines with high or low copy number of CRHR1-IT1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset. | |
| CCLE Cell Line Gene Expression Profiles | cell lines with high or low expression of CRHR1-IT1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset. | |
| ChEA Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of CRHR1-IT1 gene from the CHEA Transcription Factor Binding Site Profiles dataset. | |
| ChEA Transcription Factor Targets | transcription factors binding the promoter of CRHR1-IT1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores | cellular components containing CRHR1-IT1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. | |
| dbGAP Gene-Trait Associations | traits associated with CRHR1-IT1 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. | |
| DISEASES Experimental Gene-Disease Association Evidence Scores | diseases associated with CRHR1-IT1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. | |
| ENCODE Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at CRHR1-IT1 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 CRHR1-IT1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset. | |
| ENCODE Transcription Factor Targets | transcription factors binding the promoter of CRHR1-IT1 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset. | |
| GAD Gene-Disease Associations | diseases associated with CRHR1-IT1 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. | |
| GeneSigDB Published Gene Signatures | PubMedIDs of publications reporting gene signatures containing CRHR1-IT1 from the GeneSigDB Published Gene Signatures dataset. | |
| GEO Signatures of Differentially Expressed Genes for Diseases | disease perturbations changing expression of CRHR1-IT1 gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. | |
| GEO Signatures of Differentially Expressed Genes for Kinase Perturbations | kinase perturbations changing expression of CRHR1-IT1 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 CRHR1-IT1 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 CRHR1-IT1 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 CRHR1-IT1 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset. | |
| GTEx Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of CRHR1-IT1 gene relative to other tissue samples from the GTEx Tissue Sample Gene Expression Profiles dataset. | |
| JASPAR Predicted Transcription Factor Targets | transcription factors regulating expression of CRHR1-IT1 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 CRHR1-IT1 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset. | |
| Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles | cell lines with high or low expression of CRHR1-IT1 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles dataset. | |
| LOCATE Predicted Protein Localization Annotations | cellular components predicted to contain CRHR1-IT1 protein from the LOCATE Predicted Protein Localization Annotations dataset. | |
| MotifMap Predicted Transcription Factor Targets | transcription factors regulating expression of CRHR1-IT1 gene predicted using known transcription factor binding site motifs from the MotifMap Predicted Transcription Factor Targets dataset. | |
| Roadmap Epigenomics Cell and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of CRHR1-IT1 gene relative to other cell types and tissues from the Roadmap Epigenomics Cell and Tissue Gene Expression Profiles dataset. | |
| Roadmap Epigenomics Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at CRHR1-IT1 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 CRHR1-IT1 gene relative to other tissue samples from the TCGA Signatures of Differentially Expressed Genes for Tumors dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores | tissues with high expression of CRHR1-IT1 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset. | |