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

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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)

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Bibliography

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History

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CompareRevisionActionTimeUserComment
136092view20:37, 17 December 2024EgonwRemoved stock comments
136091view16:30, 15 December 2024EgonwMade the Complex Portal identifiers machine readable
136090view16:25, 15 December 2024EgonwBetter data source
136059view11:44, 11 December 2024AlvalCorrect and add more interactions
136054view15:25, 10 December 2024AlvalCorrect and add interactions; Add proteins to the complexes
136026view08:02, 9 December 2024AlvalNew pathway

External references

DataNodes

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NameTypeDatabase referenceComment
ABCC1GeneProductENSG00000103222 (Ensembl) Multidrug resistance-associated protein 1
ABCC6GeneProductENSG00000091262 (Ensembl) Multidrug resistance-associated protein 6
ACTR10GeneProductENSG00000131966 (Ensembl)
ACTR1AGeneProductENSG00000138107 (Ensembl)
ACTR1BGeneProductENSG00000115073 (Ensembl)
BMERB1GeneProductENSG00000166780 (Ensembl)
  • 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]
CEP170GeneProductENSG00000143702 (Ensembl) Centrosomal Protein 170
CEP20GeneProductENSG00000133393 (Ensembl)
  • Centrosomal Protein 20
  • Other common annotations: FOR20; FOPNL
Ciliogenesis Pathway
DCP1-DCP2 decapping complex
DCP1AGeneProductENSG00000272886 (Ensembl)
DCP2GeneProductENSG00000172795 (Ensembl)
DCTN1GeneProductENSG00000204843 (Ensembl)
DCTN4GeneProductENSG00000132912 (Ensembl)
DCTN6GeneProductENSG00000104671 (Ensembl)
DISC1GeneProductENSG00000162946 (Ensembl) Disrupted In Schizophrenia 1 Protein
Dynactin protein complex
Dynein protein complexComplex Portal: CPX-5025
ENSG00000257769RnaENSG00000257769 (Ensembl)
ENSG00000261130GeneProductENSG00000261130 (Ensembl)
ENSG00000262171RnaENSG00000262171 (Ensembl)
ENSG00000262380RnaENSG00000262380 (Ensembl)
ENSG00000263065RnaENSG00000263065 (Ensembl)
ENSG00000263335RnaENSG00000263335 (Ensembl)
KIAA0753-CEP20-OFD1
KIAA0753GeneProductENSG00000198920 (Ensembl) OFD1- And FOPNL-Interacting Protein
MARF1GeneProductENSG00000166783 (Ensembl)
MIR484RnaENSG00000272213 (Ensembl)
MYH11GeneProductENSG00000133392 (Ensembl)
  • Myosin Heavy Chain 11
  • Type your comment here
NDE1GeneProductENSG00000072864 (Ensembl)
  • NudE Neurodevelopment Protein 1
  • Type your comment here
Neuronal migrationPathway
OFD1GeneProductENSG00000046651 (Ensembl)
PAFAH1B1GeneProductENSG00000007168 (Ensembl)
PCM1GeneProductENSG00000078674 (Ensembl) Pericentriolar Material 1 Protein
PLK1GeneProductENSG00000166851 (Ensembl) Ppolo-like kinase 1 - ser/thr kinase
RAP1AGeneProductENSG00000116473 (Ensembl)
RAPGEF4:cAMP
RAPGEF4GeneProductENSG00000091428 (Ensembl Human)
  • Rap guanine nucleotide exchange factor 4
  • synaptic plasticity, learning, and memory
RNU6-213PRnaENSG00000206778 (Ensembl)
RPL15P20 GeneProductENSG00000215003 (Ensembl)
RPL17P40GeneProductENSG00000241067 (Ensembl)
cAMPMetaboliteCHEBI:17489 (ChEBI)
mRNA DegradationPathway

Annotated Interactions

No annotated interactions

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