This pathway shows the genes deleted or duplicated in 15q13.3 copy number variation syndrome. The affected region is between 30,500,000-32,500,000 bp on Chromosome 15. The major genes in this region are OTUD7A and CHRNA7 which are known influencers of neuronal development and function. For several genes in this regio there are no exact functions known yet - e.g. the GOLGA gene group or the MTMR10 which is similar to phosphatidyl-inositol 3 phosphatases but without an active catalytic centre. The breakpoints 30,500,000-32,500,000 are from "15q13.3 Microdeletion", Bregje WM van Bon et al. in Gene reviews PMID: 20301295.fd3ddab18a16ab2b18a16d10df2a9ea10ddae6bd48ac1ab2ab2aafc4fchromosome 15q13.3 microdeletion syndromeDOID:0060394Human Disease Ontologygenetic diseaseDOID:630Human Disease Ontologydisease pathwayPW:0000013Pathway Ontology24344280PubMedScan statistic-based analysis of exome sequencing data identifies FAN1 at 15q13.3 as a susceptibility gene for schizophrenia and autism.Proc Natl Acad Sci U S A2014Ionita-Laza IXu BMakarov VBuxbaum JDRoos JLGogos JAKarayiorgou M8238642PubMedNormalization of auditory physiology by cigarette smoking in schizophrenic patients.Am J Psychiatry1993Adler LEHoffer LDWiser AFreedman R17001303PubMedRANTES stimulates Ca2+ mobilization and inositol trisphosphate (IP3) formation in cells transfected with G protein-coupled receptor 75.Br J Pharmacol2006Ignatov ARobert JGregory-Evans CSchaller HC26797144PubMedUbiquitinated Fancd2 recruits Fan1 to stalled replication forks to prevent genome instability.Science2016Lachaud CMoreno AMarchesi FToth RBlow JJRouse J28715957PubMedThe Transduction Cascade in Retinal ON-Bipolar Cells: Signal Processing and Disease.Annu Rev Vis Sci2017Martemyanov KASampath AP26111660PubMedProperties and functions of TRPM1 channels in the dendritic tips of retinal ON-bipolar cells.Eur J Cell Biol2015Schneider FMMohr FBehrendt MOberwinkler J11748222PubMedFunctional interaction between coactivators CBP/p300, PCAF, and transcription factor FKLF2.J Biol Chem2002Song CZKeller KMurata KAsano HStamatoyannopoulos G12885641PubMedAlpha-bungarotoxin binding to acetylcholine receptor membranes studied by low angle X-ray diffraction.Biophys J2003Young HSHerbette LGSkita V25721503PubMedHuman-specific gene ARHGAP11B promotes basal progenitor amplification and neocortex expansion.Science2015Florio MAlbert MTaverna ENamba TBrandl HLewitus EHaffner CSykes AWong FKPeters JGuhr EKlemroth SPrüfer KKelso JNaumann RNüsslein IDahl ALachmann RPääbo SHuttner WB31883789PubMedHuman-Specific ARHGAP11B Acts in Mitochondria to Expand Neocortical Progenitors by Glutaminolysis.Neuron2020Namba TDóczi JPinson AXing LKalebic NWilsch-Bräuninger MLong KRVaid SLauer JBogdanova ABorgonovo BShevchenko AKeller PDrechsel DKurzchalia TWimberger PChinopoulos CHuttner WB11278378PubMedalpha 7 nicotinic receptor transduces signals to phosphatidylinositol 3-kinase toblock A beta-amyloid-induced neurotoxicity.J Biol Chem2001Kihara TShimohama SSawada HHonda KNakamizo TShibasaki HKume TAkaike A10023774PubMedRFLAT-1: a new zinc finger transcription factor that activates RANTES gene expression in T lymphocytes.Immunity1999Song AChen YFThamatrakoln KStorm TAKrensky AM29395074PubMedOTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome.Am J Hum Genet2018Uddin MUnda BKKwan VHolzapfel NTWhite SHChalil LWoodbury-Smith MHo KSHarward EMurtaza NDave BPellecchia GD'Abate LNalpathamkalam TLamoureux SWei JSpeevak MStavropoulos JHope KJDoble BWNielsen JWassman ERScherer SWSingh KK21109473PubMedIntronic miR-211 assumes the tumor suppressive function of its host gene in melanoma.Mol Cell2010Levy CKhaled MIliopoulos DJanas MMSchubert SPinner SChen PHLi SFletcher ALYokoyama SScott KLGarraway LASong JSGranter SRTurley SJFisher DENovina CD