16p13.11 copy number variation syndrome (WP5502)

Homo sapiens

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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)

Authors

Alval and Egon Willighagen

Activity

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Organisms

Homo sapiens

Communities

Rare Diseases

Annotations

Participants
Query Drugst.One

Label Type Compact URI Comment
cAMP Metabolite chebi:17489
PLAGL1 GeneProduct ensembl:ENSG00000118495
GATA3 GeneProduct ensembl:ENSG00000107485
OFD1 GeneProduct ensembl:ENSG00000046651
CEP170 GeneProduct ensembl:ENSG00000143702 Phosphorylated Centrosomal Protein 170
DCTN1 GeneProduct ensembl:ENSG00000204843
PCM1 GeneProduct ensembl:ENSG00000078674 Pericentriolar Material 1 Protein
KIAA0753 GeneProduct ensembl:ENSG00000198920 OFD1- And FOPNL-Interacting Protein
PLK1 GeneProduct ensembl:ENSG00000166851 Ppolo-like kinase 1 - ser/thr kinase
ENSG00000261130 GeneProduct ensembl:ENSG00000261130
MYH11 GeneProduct ensembl:ENSG00000133392 smooth muscle myosin heavy chain (SMMHC)
DISC1 GeneProduct ensembl:ENSG00000162946 Disrupted In Schizophrenia 1 Protein
RPL17P40 GeneProduct ensembl:ENSG00000241067
ABCC1 GeneProduct ensembl:ENSG00000103222 Multidrug resistance-associated protein 1
MARF1 GeneProduct ensembl:ENSG00000166783
CEP20 GeneProduct ensembl:ENSG00000133393 Centrosomal Protein 20
Other common annotations: FOR20; FOPNL
BMERB1 GeneProduct ensembl:ENSG00000166780 bMERB domain-containing protein 1
[GeneCards]: Predicted to act upstream of or within 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]
ABCC6 GeneProduct ensembl:ENSG00000091262 Multidrug resistance-associated protein 6
RPL15P20 GeneProduct ensembl:ENSG00000215003
NDE1 GeneProduct ensembl:ENSG00000072864 NudE Neurodevelopment Protein 1
PAFAH1B1 GeneProduct ensembl:ENSG00000007168
RAPGEF4 GeneProduct ensembl:ENSG00000091428 Rap guanine nucleotide exchange factor 4
synaptic plasticity, learning, and memory
RAP1A GeneProduct ensembl:ENSG00000116473
CEP170 GeneProduct ensembl:ENSG00000143702 Centrosomal Protein 170
DCTN4 GeneProduct ensembl:ENSG00000132912
DCTN6 GeneProduct ensembl:ENSG00000104671
ACTR1A GeneProduct ensembl:ENSG00000138107
ACTR10 GeneProduct ensembl:ENSG00000131966
ACTR1B GeneProduct ensembl:ENSG00000115073
DCP1A GeneProduct ensembl:ENSG00000272886
DCP2 GeneProduct ensembl:ENSG00000172795
PLAG1 GeneProduct ensembl:ENSG00000181690

References

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  2. A family of cAMP-binding proteins that directly activate Rap1. Kawasaki H, Springett GM, Mochizuki N, Toki S, Nakaya M, Matsuda M, et al. Science. 1998 Dec 18;282(5397):2275–9. PubMed Europe PMC Scholia
  3. The novel genetic disorder microhydranencephaly maps to chromosome 16p13.3-12.1. Kavaslar GN, Onengüt S, Derman O, Kaya A, Tolun A. Am J Hum Genet. 2000 May;66(5):1705–9. PubMed Europe PMC Scholia
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  14. Families with the risk allele of DISC1 reveal a link between schizophrenia and another component of the same molecular pathway, NDE1. Hennah W, Tomppo L, Hiekkalinna T, Palo OM, Kilpinen H, Ekelund J, et al. Hum Mol Genet. 2007 Mar 1;16(5):453–62. PubMed Europe PMC Scholia
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  20. Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections. Kuang SQ, Guo DC, Prakash SK, McDonald MLN, Johnson RJ, Wang M, et al. PLoS Genet. 2011 Jun;7(6):e1002118. PubMed Europe PMC Scholia
  21. Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly. Guven A, Gunduz A, Bozoglu TM, Yalcinkaya C, Tolun A. Neurogenetics. 2012 Aug;13(3):189–94. PubMed Europe PMC Scholia
  22. Centrosomal protein FOR20 is essential for S-phase progression by recruiting Plk1 to centrosomes. Shen M, Cai Y, Yang Y, Yan X, Liu X, Zhou T. Cell Res. 2013 Nov;23(11):1284–95. PubMed Europe PMC Scholia
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  28. Endogenous Cell Type-Specific Disrupted in Schizophrenia 1 Interactomes Reveal Protein Networks Associated With Neurodevelopmental Disorders. Wilkinson B, Evgrafov OV, Zheng D, Hartel N, Knowles JA, Graham NA, et al. Biol Psychiatry. 2019 Feb 15;85(4):305–16. PubMed Europe PMC Scholia
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  31. Extrusion pump ABCC1 was first linked with nonsyndromic hearing loss in humans by stepwise genetic analysis. Li M, Mei L, He C, Chen H, Cai X, Liu Y, et al. Genet Med. 2019 Dec;21(12):2744–54. PubMed Europe PMC Scholia
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