16p13.11 copy number variation syndrome (Homo sapiens)

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<?xml version="1.0" encoding="UTF-8"?> <Pathway xmlns="http://pathvisio.org/GPML/2013a" Name="16p13.11 copy number variation syndrome " Version="20241108" Organism="Homo sapiens"> <Comment Source="WikiPathways-description">Copy number variations in the region 16p13.11 (exact position: chr16:15511655-16293689 (GRCh37), are rare, pathological mutations in the human genome. It is a risk variation for neuropsychiatric diseases like schizophrenia (Kirov et al. 2014, 10.1016/j.biopsych.2013.07.022)</Comment> <Comment Source="WikiPathways-description">Correct nodes annotations</Comment> <Attribute Key="org.pathvisio.sbgn.language" Value="process description" /> <Graphics BoardWidth="1588.1902696850113" BoardHeight="955.142971881417" /> <DataNode TextLabel="PLAGL1" GraphId="c8e1f" Type="GeneProduct"> <Graphics CenterX="1456.4640883977909" CenterY="670.2446724546149" Width="90.0" Height="25.0" ZOrder="32768" FontSize="12" Valign="Middle" /> <Xref Database="Ensembl" ID="ENSG00000118495" /> </DataNode> <DataNode TextLabel="GATA3" GraphId="fad85" Type="GeneProduct"> <Graphics CenterX="1329.3033313637948" CenterY="701.5420708355326" Width="90.0" Height="25.0" ZOrder="32768" FontSize="12" Valign="Middle" /> <Xref Database="Ensembl" ID="ENSG00000107485" /> </DataNode> <DataNode TextLabel="RNU6-213P" Type="Rna"> <Graphics CenterX="523.0958194589903" 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Width="59.51905626134296" Height="25.0" ZOrder="32914" FontSize="12" Valign="Middle" /> <Xref Database="Ensembl" ID="ENSG00000204843" /> </DataNode> <DataNode TextLabel="PCM1" GraphId="faa2b" Type="GeneProduct"> <Comment>Pericentriolar Material 1 Protein</Comment> <Graphics CenterX="395.49748179495833" CenterY="831.2768510078278" Width="63.199193405502214" Height="25.000000000000107" ZOrder="32915" FontSize="12" Valign="Middle" /> <Xref Database="Ensembl" ID="ENSG00000078674" /> </DataNode> <DataNode TextLabel="KIAA0753" GraphId="cb915" Type="GeneProduct"> <Comment>OFD1- And FOPNL-Interacting Protein</Comment> <Graphics CenterX="330.00394072006833" CenterY="667.6492729321163" Width="79.30737188054123" Height="22.15330912630374" ZOrder="32916" FontSize="12" Valign="Middle" /> <Xref Database="Ensembl" ID="ENSG00000198920" /> </DataNode> <DataNode TextLabel="PLK1" GraphId="bdbe7" Type="GeneProduct"> <Comment>Ppolo-like kinase 1 - ser/thr kinase</Comment> <Graphics 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Valign="Middle" Color="cc00cc" /> <Xref Database="Ensembl" ID="ENSG00000257769" /> </DataNode> <DataNode TextLabel="ENSG00000263335" GraphId="ac9c4" Type="Rna"> <Graphics CenterX="1421.445516098347" CenterY="115.10947074739263" Width="129.39521800281295" Height="19.99999999999996" ZOrder="32926" FontSize="12" Valign="Middle" Color="cc00cc" /> <Xref Database="Ensembl" ID="ENSG00000263335" /> </DataNode> <DataNode TextLabel="DISC1" GraphId="ec1e0" Type="GeneProduct"> <Comment>Disrupted In Schizophrenia 1 Protein</Comment> <Graphics CenterX="861.783332598992" CenterY="177.03455464036574" Width="89.99999999999993" Height="20.000000000000075" ZOrder="32927" FontSize="12" Valign="Middle" /> <Xref Database="Ensembl" ID="ENSG00000162946" /> </DataNode> <DataNode TextLabel="RPL17P40" Type="GeneProduct"> <Graphics CenterX="1140.2907802953732" CenterY="591.9550813906448" Width="129.39521800281295" Height="20.00000000000004" ZOrder="32928" FontSize="12" Valign="Middle" Color="666666" /> <Xref 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negative regulation of cell motility involved in cerebral cortex radial glia guided migration and negative regulation of microtubule depolymerization. Predicted to be located in microtubule cytoskeleton. [provided by Alliance of Genome Resources, Apr 2022]</Comment> <Graphics CenterX="293.7527729959223" CenterY="115.10947074739263" Width="86.74167471195257" Height="20.00000000000004" ZOrder="32935" FontSize="12" Valign="Middle" /> <Xref Database="Ensembl" ID="ENSG00000166780" /> </DataNode> <DataNode TextLabel="ABCC6" GraphId="e21df" Type="GeneProduct"> <Comment>Multidrug resistance-associated protein 6</Comment> <Graphics CenterX="1327.3676109187945" CenterY="591.9550813906442" Width="129.39521800281295" Height="19.99999999999996" ZOrder="32936" FontSize="12" Valign="Middle" /> <Xref Database="Ensembl" ID="ENSG00000091262" /> </DataNode> <DataNode TextLabel="RPL15P20&#xA;" Type="GeneProduct"> <Graphics CenterX="808.6757945302639" CenterY="591.9550813906443" Width="129.39521800281295" Height="19.99999999999996" ZOrder="32937" FontSize="12" Valign="Middle" Color="666666" /> <Xref Database="Ensembl" ID="ENSG00000215003" /> </DataNode> <DataNode TextLabel="NDE1" GraphId="d76ac" 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ID="ENSG00000091428" /> </DataNode> <DataNode TextLabel="RAPGEF4" GraphId="a9f4b" Type="GeneProduct" GroupRef="aaa1c"> <Comment>Rap guanine nucleotide exchange factor 4</Comment> <Comment>synaptic plasticity, learning, and memory</Comment> <Graphics CenterX="216.9661471065886" CenterY="285.58415044565993" Width="90.0" Height="20.670420367533684" ZOrder="32944" FontSize="12" Valign="Middle" /> <Xref Database="Ensembl" ID="ENSG00000091428" /> </DataNode> <DataNode TextLabel="cAMP" GraphId="f7c84" Type="Metabolite" GroupRef="aaa1c"> <Graphics CenterX="217.8221339108677" CenterY="311.2653127107156" Width="54.89282769991845" Height="25.0" ZOrder="32945" FontSize="12" Valign="Middle" ShapeType="Oval" Color="0000ff" /> <Xref Database="ChEBI" ID="CHEBI:17489" /> </DataNode> <DataNode TextLabel="RAPGEF4:cAMP" GraphId="da2cd" Type="Complex" GroupRef="aaa1c"> <Attribute Key="org.pathvisio.sbgn.class" Value="macromolecule" /> <Graphics CenterX="216.96614710658838" CenterY="261.60275981000865" 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GroupRef="a5f25"> <Comment>OFD1- And FOPNL-Interacting Protein</Comment> <Graphics CenterX="177.63460314062252" CenterY="778.8583052370919" Width="90.62539184952982" Height="26.362068965517153" ZOrder="32959" FontSize="12" Valign="Middle" /> <Xref Database="Ensembl" ID="ENSG00000198920" /> </DataNode> <DataNode TextLabel="OFD1" GraphId="c0066" Type="GeneProduct" GroupRef="a5f25"> <Graphics CenterX="177.63460314062365" CenterY="805.2223859603924" Width="90.62539184952976" Height="19.28547272222891" ZOrder="32960" FontSize="12" Valign="Middle" /> <Xref Database="Ensembl" ID="ENSG00000046651" /> </DataNode> <DataNode TextLabel="CEP170" GraphId="c5962" Type="GeneProduct"> <Comment>Centrosomal Protein 170</Comment> <Graphics CenterX="381.23453827669584" CenterY="756.1589554773353" Width="63.877404083713145" Height="20.90844771077286" ZOrder="32961" FontSize="12" Valign="Middle" /> <Xref Database="Ensembl" ID="ENSG00000143702" /> </DataNode> <DataNode TextLabel="DCTN4" GraphId="e092c" Type="GeneProduct" GroupRef="e37c8"> <Graphics CenterX="438.6751729002459" CenterY="387.41523233937824" Width="59.51905626134293" Height="25.000000000000007" ZOrder="32963" FontSize="12" Valign="Middle" /> <Xref Database="Ensembl" ID="ENSG00000132912" /> </DataNode> <DataNode TextLabel="DCTN6" GraphId="de00b" Type="GeneProduct" GroupRef="e37c8"> <Graphics CenterX="438.6751729002459" CenterY="416.4714936823915" Width="59.51905626134293" Height="25.000000000000007" ZOrder="32964" FontSize="12" Valign="Middle" /> <Xref Database="Ensembl" ID="ENSG00000104671" /> </DataNode> <DataNode TextLabel="ACTR1A" GraphId="e2b36" Type="GeneProduct" GroupRef="e37c8"> <Graphics CenterX="504.4737209946167" CenterY="358.3589709963661" Width="59.51905626134293" Height="25.000000000000007" ZOrder="32965" FontSize="12" Valign="Middle" /> <Xref Database="Ensembl" ID="ENSG00000138107" /> </DataNode> <DataNode TextLabel="ACTR10" GraphId="ceafa" Type="GeneProduct" GroupRef="e37c8"> <Graphics 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