15q13.3 copy number variation syndrome (WP4942)
Homo sapiens
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.
Authors
Friederike Ehrhart , Egon Willighagen , and Eric WeitzActivity
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Organisms
Homo sapiensCommunities
Rare DiseasesAnnotations
Disease Ontology
chromosomal deletion syndrome chromosome 15q13.3 microdeletion syndrome genetic diseasePathway Ontology
disease pathway| Label | Type | Compact URI | Comment |
|---|---|---|---|
| DNA | Metabolite | chebi:16991 | |
| Acetylcholine | Metabolite | chebi:15355 | |
| glutamate | Metabolite | chebi:14321 | |
| Alpha-Bungarotoxin | Metabolite | wikidata:Q1159221 | |
| RN7SL796P | GeneProduct | ensembl:ENSG00000277031 | |
| DNM1P50 | GeneProduct | ensembl:ENSG00000259890 | |
| ULK4P2 | GeneProduct | ensembl:ENSG00000260128 | |
| RN7SL628P | GeneProduct | ensembl:ENSG00000277467 | |
| GOLGA8UP | GeneProduct | ensembl:ENSG00000103832 | |
| RN7SL82P | GeneProduct | ensembl:ENSG00000278696 | |
| HERC2P10 | GeneProduct | ensembl:ENSG00000259845 | |
| RNU6-466P | GeneProduct | ensembl:ENSG00000212526 | |
| LINC02352 | GeneProduct | ensembl:ENSG00000259448 | |
| UBE2CP4 | GeneProduct | ensembl:ENSG00000259179 | |
| RNU6-18P | GeneProduct | ensembl:ENSG00000207257 | |
| RNU6-17P | GeneProduct | ensembl:ENSG00000206972 | |
| RN7SL196P | GeneProduct | ensembl:ENSG00000274424 | |
| KLF13 | GeneProduct | ensembl:ENSG00000169926 | |
| CHRNA7 | GeneProduct | ensembl:ENSG00000175344 | |
| MTMR10 | GeneProduct | ensembl:ENSG00000166912 | |
| GPR75 | GeneProduct | ensembl:ENSG00000119737 | |
| GOLGA8R | GeneProduct | ensembl:ENSG00000186399 | |
| CREBBP | GeneProduct | ensembl:ENSG00000005339 | |
| TRPM1 | GeneProduct | ensembl:ENSG00000134160 | |
| FANCD2 | GeneProduct | ensembl:ENSG00000144554 | |
| OTUD7A | GeneProduct | ensembl:ENSG00000169918 | |
| GOLGA8Q | GeneProduct | ensembl:ENSG00000178115 | |
| CHRFAM7A | GeneProduct | ensembl:ENSG00000166664 | |
| ARHGAP11B | GeneProduct | ensembl:ENSG00000285077 | |
| CCL5 | GeneProduct | ensembl:ENSG00000271503 | |
| FAN1 | GeneProduct | ensembl:ENSG00000198690 | |
| ADP/ATP translocases | GeneProduct | pfam:PF00153 | |
| GOLGA8H | GeneProduct | ensembl:ENSG00000261794 | |
| FYN | GeneProduct | ensembl:ENSG00000010810 | |
| GRM6 | GeneProduct | ensembl:ENSG00000113262 | |
| SERPINH1 | GeneProduct | ensembl:ENSG00000149257 | |
| KAT2B | GeneProduct | ensembl:ENSG00000114166 |
References
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- Properties and functions of TRPM1 channels in the dendritic tips of retinal ON-bipolar cells. Schneider FM, Mohr F, Behrendt M, Oberwinkler J. Eur J Cell Biol. 2015;94(7–9):420–7. PubMed Europe PMC Scholia
- Ubiquitinated Fancd2 recruits Fan1 to stalled replication forks to prevent genome instability. Lachaud C, Moreno A, Marchesi F, Toth R, Blow JJ, Rouse J. Science. 2016 Feb 19;351(6275):846–9. PubMed Europe PMC Scholia
- The Transduction Cascade in Retinal ON-Bipolar Cells: Signal Processing and Disease. Martemyanov KA, Sampath AP. Annu Rev Vis Sci. 2017 Sep 15;3:25–51. PubMed Europe PMC Scholia
- OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome. Uddin M, Unda BK, Kwan V, Holzapfel NT, White SH, Chalil L, et al. Am J Hum Genet. 2018 Feb 1;102(2):278–95. PubMed Europe PMC Scholia
- Human-Specific ARHGAP11B Acts in Mitochondria to Expand Neocortical Progenitors by Glutaminolysis. Namba T, Dóczi J, Pinson A, Xing L, Kalebic N, Wilsch-Bräuninger M, et al. Neuron. 2020 Mar 4;105(5):867-881.e9. PubMed Europe PMC Scholia