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- Data Summary
Gene Report
Approved Symbol | POLE |
---|---|
Symbol Alias | POLE1 |
Approved Name | polymerase (DNA directed), epsilon |
Location | 12q24.3 |
Position | chr12:133200348-133263945, - |
External Links |
HGNC: 9177 Entrez Gene: 5426 Ensembl: ENSG00000177084 UCSC: uc001uks.1 |
No. of Studies | 0 (significant: 0; non-significant: 0; trend: 0) |
Source | Mapped by CNV |
ID | Location | Size | Band | Type | Inheritance |
---|---|---|---|---|---|
CNV_Lionel[2011]_22 | chr12:0-0 (NCBI36 / hg18) | 211 | 12q24.33 | Gain | P |
GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)
GO terms by database search (count: 24)
ID | Name | No. of Genes in ADHDgene | Brief Description |
---|---|---|---|
hsa00230 | Purine metabolism | 22 | |
hsa01100 | Metabolic pathways | 237 | |
hsa03030 | DNA replication | 7 | A complex network of interacting proteins and enzymes is req...... A complex network of interacting proteins and enzymes is required for DNA replication. Generally, DNA replication follows a multistep enzymatic pathway. At the DNA replication fork, a DNA helicase (DnaB or MCM complex) precedes the DNA synthetic machinery and unwinds the duplex parental DNA in cooperation with the SSB or RPA. On the leading strand, replication occurs continuously in a 5 to 3 direction, whereas on the lagging strand, DNA replication occurs discontinuously by synthesis and joining of short Okazaki fragments. In prokaryotes, the leading strand replication apparatus consists of a DNA polymerase (pol III core), a sliding clamp (beta), and a clamp loader (gamma delta complex). The DNA primase (DnaG) is needed to form RNA primers. Normally, during replication of the lagging-strand DNA template, an RNA primer is removed either by an RNase H or by the 5 to 3 exonuclease activity of DNA pol I, and the DNA ligase joins the Okazaki fragments. In eukaryotes, three DNA polymerases (alpha, delta, and epsilon) have been identified. DNA primase forms a permanent complex with DNA polymerase alpha. PCNA and RFC function as a clamp and a clamp loader. FEN 1 and RNase H1 remove the RNA from the Okazaki fragments and DNA ligase I joins the DNA. More... |
hsa03410 | Base excision repair | 5 | Base excision repair (BER) is the predominant DNA damage rep...... Base excision repair (BER) is the predominant DNA damage repair pathway for the processing of small base lesions, derived from oxidation and alkylation damages. BER is normally defined as DNA repair initiated by lesion-specific DNA glycosylases and completed by either of the two sub-pathways: short-patch BER where only one nucleotide is replaced and long-patch BER where 2-13 nucleotides are replaced. Each sub-pathway of BER relies on the formation of protein complexes that assemble at the site of the DNA lesion and facilitate repair in a coordinated fashion. This process of complex formation appears to provide an increase in specificity and efficiency to the BER pathway, thereby facilitating the maintenance of genome integrity by preventing the accumulation of highly toxic repair intermediates. More... |
hsa00240 | Pyrimidine metabolism | 13 | |
hsa03420 | Nucleotide excision repair | 9 | Nucleotide excision repair (NER) is a mechanism to recognize...... Nucleotide excision repair (NER) is a mechanism to recognize and repair bulky DNA damage caused by compounds, environmental carcinogens, and exposure to UV-light. In humans hereditary defects in the NER pathway are linked to at least three diseases: xeroderma pigmentosum (XP), Cockayne syndrome (CS), and trichothiodystrophy (TTD). The repair of damaged DNA involves at least 30 polypeptides within two different sub-pathways of NER known as transcription-coupled repair (TCR-NER) and global genome repair (GGR-NER). TCR refers to the expedited repair of lesions located in the actively transcribed strand of genes by RNA polymerase II (RNAP II). In GGR-NER the first step of damage recognition involves XPC-hHR23B complex together with XPE complex (in prokaryotes, uvrAB complex). The following steps of GGR-NER and TCR-NER are similar. More... |
Region: chr12:133200348..133263945 View in gBrowse
Copyright: Bioinformatics Lab, Institute of Psychology, Chinese Academy of Sciences Feedback
Last update: Feb 26, 2014