15q13.3 copy number variation syndrome (Homo sapiens)

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519, 1085439, 102Chromosome 15:30,500,00 exact function unclearpossibly involved in golgiapparatus organizationstacking of cristaeneocortex developmentChromosome 15:32,500,000Schizophrenia risk geneubiquitinated proteinincreased Ca2+ fluxupon stimulationtumor growthunspecific cation channelRNA genelightRegulation of photosensitiviyof retinaHERC2P10UBE2CP4Fanconi Anemia PathwayFYNDNM1P32MTMR10OTUD7AARHGAP11BLINC02352FANCD2DNM1P50GOLGA8ORN7SL539PRN7SL82PRN7SL628PKLF13RNU6-18PGOLGA8QGOLGA8HRN7SL796Phsa-mir-211Alpha-BungarotoxinDNM1P31glutamateGRM6GOLGA8UPFAN1hsa-mir-211ULK4P1TRPM1GOLGA8KADP/ATP translocasesAcetylcholineRNU6-466PDNARN7SL185PULK4P2CHRNA7pseudo geneexact function unclearpossibly involved in golgiapparatus organizationstacking of cristaeexact function unclearpossibly involved in golgiapparatus organizationstacking of cristaeexact function unclearpossibly involved in golgiapparatus organizationstacking of cristaeUFANCD2U67


15q13.3 deletion syndrome, copy number variation syndrome.

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  1. Namba T, Dóczi J, Pinson A, Xing L, Kalebic N, Wilsch-Bräuninger M, Long KR, Vaid S, Lauer J, Bogdanova A, Borgonovo B, Shevchenko A, Keller P, Drechsel D, Kurzchalia T, Wimberger P, Chinopoulos C, Huttner WB; ''Human-Specific ARHGAP11B Acts in Mitochondria to Expand Neocortical Progenitors by Glutaminolysis.''; Neuron, 2020 PubMed Europe PMC Scholia
  2. Kihara T, Shimohama S, Sawada H, Honda K, Nakamizo T, Shibasaki H, Kume T, Akaike A; ''alpha 7 nicotinic receptor transduces signals to phosphatidylinositol 3-kinase toblock A beta-amyloid-induced neurotoxicity.''; J Biol Chem, 2001 PubMed Europe PMC Scholia
  3. Young HS, Herbette LG, Skita V; ''Alpha-bungarotoxin binding to acetylcholine receptor membranes studied by low angle X-ray diffraction.''; Biophys J, 2003 PubMed Europe PMC Scholia
  4. Florio M, Albert M, Taverna E, Namba T, Brandl H, Lewitus E, Haffner C, Sykes A, Wong FK, Peters J, Guhr E, Klemroth S, Prüfer K, Kelso J, Naumann R, Nüsslein I, Dahl A, Lachmann R, Pääbo S, Huttner WB; ''Human-specific gene ARHGAP11B promotes basal progenitor amplification and neocortex expansion.''; Science, 2015 PubMed Europe PMC Scholia
  5. Lachaud C, Moreno A, Marchesi F, Toth R, Blow JJ, Rouse J; ''Ubiquitinated Fancd2 recruits Fan1 to stalled replication forks to prevent genome instability.''; Science, 2016 PubMed Europe PMC Scholia
  6. Ionita-Laza I, Xu B, Makarov V, Buxbaum JD, Roos JL, Gogos JA, Karayiorgou M; ''Scan 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 A, 2014 PubMed Europe PMC Scholia
  7. Adler LE, Hoffer LD, Wiser A, Freedman R; ''Normalization of auditory physiology by cigarette smoking in schizophrenic patients.''; Am J Psychiatry, 1993 PubMed Europe PMC Scholia
  8. Levy C, Khaled M, Iliopoulos D, Janas MM, Schubert S, Pinner S, Chen PH, Li S, Fletcher AL, Yokoyama S, Scott KL, Garraway LA, Song JS, Granter SR, Turley SJ, Fisher DE, Novina CD; ''Intronic miR-211 assumes the tumor suppressive function of its host gene in melanoma.''; Mol Cell, 2010 PubMed Europe PMC Scholia
  9. Martemyanov KA, Sampath AP; ''The Transduction Cascade in Retinal ON-Bipolar Cells: Signal Processing and Disease.''; Annu Rev Vis Sci, 2017 PubMed Europe PMC Scholia
  10. Schneider FM, Mohr F, Behrendt M, Oberwinkler J; ''Properties and functions of TRPM1 channels in the dendritic tips of retinal ON-bipolar cells.''; Eur J Cell Biol, 2015 PubMed Europe PMC Scholia


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111249view11:08, 27 July 2020EgonwReplaced a secondary ChEBI identifier with a primary id
111193view15:54, 23 July 2020Fehrhartwork in progress
111192view15:16, 23 July 2020Fehrhartwork in progress
111189view05:59, 23 July 2020EgonwReplaced a secondary ChEBI identifier with a primary one
111186view11:18, 22 July 2020Fehrhartwork in progress
111185view11:04, 22 July 2020Fehrhartwork in progress
110969view14:11, 24 June 2020FehrhartNew pathway

External references


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NameTypeDatabase referenceComment
ADP/ATP translocasesGeneProductPF00153 (Pfam)
ARHGAP11BGeneProductENSG00000285077 (Ensembl)
AcetylcholineMetaboliteCHEBI:15355 (ChEBI)
Alpha-BungarotoxinMetaboliteQ1159221 (Wikidata)
CHRNA7GeneProductENSG00000175344 (Ensembl)
DNAMetaboliteCHEBI:16991 (ChEBI)
DNM1P31GeneProductENSG00000261491 (Ensembl)
DNM1P32GeneProductENSG00000261708 (Ensembl)
DNM1P50GeneProductENSG00000259890 (Ensembl)
FAN1GeneProductENSG00000198690 (Ensembl)
FANCD2GeneProductENSG00000144554 (Ensembl)
FYNGeneProductENSG00000010810 (Ensembl)
Fanconi Anemia PathwayPathwayWP3569 (WikiPathways)
GOLGA8HGeneProductENSG00000261794 (Ensembl)
GOLGA8KGeneProductENSG00000249931 (Ensembl)
GOLGA8OGeneProductENSG00000206127 (Ensembl)
GOLGA8QGeneProductENSG00000178115 (Ensembl)
GOLGA8UPGeneProductENSG00000103832 (Ensembl)
GRM6GeneProductENSG00000113262 (Ensembl)
HERC2P10GeneProductENSG00000259845 (Ensembl)
KLF13GeneProductENSG00000169926 (Ensembl)
LINC02352GeneProductENSG00000259448 (Ensembl)
MTMR10GeneProductENSG00000166912 (Ensembl)
OTUD7AGeneProductENSG00000169918 (Ensembl)
RN7SL185PGeneProductENSG00000275776 (Ensembl)
RN7SL539PGeneProductENSG00000274076 (Ensembl)
RN7SL628PGeneProductENSG00000277467 (Ensembl)
RN7SL796PGeneProductENSG00000277031 (Ensembl)
RN7SL82PGeneProductENSG00000278696 (Ensembl)
RNU6-18PGeneProductENSG00000207257 (Ensembl)
RNU6-466PGeneProductENSG00000212526 (Ensembl)
TRPM1GeneProductENSG00000134160 (Ensembl)
UBE2CP4GeneProductENSG00000259179 (Ensembl)
ULK4P1GeneProductENSG00000261279 (Ensembl)
ULK4P2GeneProductENSG00000260128 (Ensembl)
glutamateMetaboliteCHEBI:14321 (ChEBI)
hsa-mir-211RnaMI0000287 (miRBase Sequence)

Annotated Interactions

No annotated interactions

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