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- Data Summary
Gene Report
Approved Symbol | HES1 |
---|---|
Previous Symbol | HRY |
Symbol Alias | FLJ20408, HES-1, Hes1, bHLHb39 |
Approved Name | hairy and enhancer of split 1, (Drosophila) |
Previous Name | hairy homolog (Drosophila) |
Location | 3q28-q29 |
Position | chr3:193853934-193856521, + |
External Links |
HGNC: 5192 Entrez Gene: 3280 Ensembl: ENSG00000114315 UCSC: uc003ftq.1 |
No. of Studies | 1 (significant: 1; non-significant: 0; trend: 0) |
Source | Literature-origin; Mapped by CNV; Mapped by LD-proxy; Mapped by literature SNP |
Reference | Statistical Values/Author Comments | Result of Statistical Analysis |
---|---|---|
Brookes K, 2006 | UNPHASED TDT P-value=0.0163, global P-value=0.081, WHAP TDT P_sum P-value=0.0978; OR=1.23, one or more SNPs with nominal P-value<0.05 located in this gene | Significant |
Literature-origin SNPs (count: 1)
rs_ID | Location | Functional Annotation | No. of Studies (significant/non-significant/trend) |
---|---|---|---|
rs4686673 | Chr3:193861242(Fwd) | downstream_gene_variant; upstream_gene_variant | 1(1/0/0) |
LD-proxies (count: 1)
rs_ID | Location | Functional Annotation |
---|---|---|
rs2368048 | Chr3:193854961(Fwd) | intron_variant; nc_transcript_variant; non_coding_exon_variant |
ID | Location | Size | Band | Type | Inheritance |
---|---|---|---|---|---|
CNV_Williams[2010]_50 | chr3:194759366-195501036 (NCBI Build 36.1 (hg18)) | 741671 | 3q29 | Gain |
GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)
GO terms by database search (count: 77)
ID | Name | No. of Genes in ADHDgene | Brief Description |
---|---|---|---|
hsa04950 | Maturity onset diabetes of the young | 3 | About 2-5% of type II diabetic patients suffer from a monoge...... About 2-5% of type II diabetic patients suffer from a monogenic disease with autosomal dominant inheritance. This monogenic form of type II diabetes is called maturity onset diabetes of the young (MODY). More... |
hsa04330 | Notch signaling pathway | 8 | The Notch signaling pathway is an evolutionarily conserved, ...... The Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in all metazoan organisms in the Animal kingdom. The Notch proteins (Notch1-Notch4 in vertebrates) are single-pass receptors that are activated by the Delta (or Delta-like) and Jagged/Serrate families of membrane-bound ligands. They are transported to the plasma membrane as cleaved, but otherwise intact polypeptides. Interaction with ligand leads to two additional proteolytic cleavages that liberate the Notch intracellular domain (NICD) from the plasma membrane. The NICD translocates to the nucleus, where it forms a complex with the DNA binding protein CSL, displacing a histone deacetylase (HDAc)-co-repressor (CoR) complex from CSL. Components of an activation complex, such as MAML1 and histone acetyltransferases (HATs), are recruited to the NICD-CSL complex, leading to the transcriptional activation of Notch target genes. More... |
Region: chr3:193853934..193856521 View in gBrowse
Copyright: Bioinformatics Lab, Institute of Psychology, Chinese Academy of Sciences Feedback
Last update: Feb 26, 2014