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

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8131923, 73, 710512141011unspecific cation channelRNA geneSchizophrenia risk geneRegulation of photosensitiviyof retinaChromosome 15:30,500,00 dendritic growthneuronal developmentASD risk genetumor growthincreased Ca2+ fluxupon stimulationunclear functionrecruitment and stimulation ofleukocytes and NKslightneocortex developmentubiquitinated proteinexact function unclearpossibly involved in golgiapparatus organizationstacking of cristaeChromosome 15:32,500,000Function unclearInactive phosphatidyl-inositol 3-phosphatase 10Source: https://www.uniprot.org/uniprot/Q9NXD2HERC2P10CCL5FYNDNM1P50TRPM1GOLGA8HDNACHRNA7RN7SL196PKLF13RNU6-17PFAN1hsa-mir-211RN7SL82PADP/ATP translocasesGOLGA8RMTMR10AcetylcholineAlpha-BungarotoxinGOLGA8UPRN7SL796PRNU6-466PRNU6-18PCREBBPULK4P2LINC02352RN7SL628PCHRFAM7AARHGAP11BOTUD7AGOLGA8QUBE2CP4Fanconi Anemia PathwayglutamateFANCD2GRM6GPR75pseudo geneexact function unclearpossibly involved in golgiapparatus organizationstacking of cristaeUFANCD2U4CCL56SERPINH1KAT2B1414


Description

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.

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Ontology Terms

 

Bibliography

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  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
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  9. Song A, Chen YF, Thamatrakoln K, Storm TA, Krensky AM; ''RFLAT-1: a new zinc finger transcription factor that activates RANTES gene expression in T lymphocytes.''; Immunity, 1999 PubMed Europe PMC Scholia
  10. 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
  11. Uddin M, Unda BK, Kwan V, Holzapfel NT, White SH, Chalil L, Woodbury-Smith M, Ho KS, Harward E, Murtaza N, Dave B, Pellecchia G, D'Abate L, Nalpathamkalam T, Lamoureux S, Wei J, Speevak M, Stavropoulos J, Hope KJ, Doble BW, Nielsen J, Wassman ER, Scherer SW, Singh KK; ''OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome.''; Am J Hum Genet, 2018 PubMed Europe PMC Scholia
  12. Ignatov A, Robert J, Gregory-Evans C, Schaller HC; ''RANTES stimulates Ca2+ mobilization and inositol trisphosphate (IP3) formation in cells transfected with G protein-coupled receptor 75.''; Br J Pharmacol, 2006 PubMed Europe PMC Scholia
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  14. Song CZ, Keller K, Murata K, Asano H, Stamatoyannopoulos G; ''Functional interaction between coactivators CBP/p300, PCAF, and transcription factor FKLF2.''; J Biol Chem, 2002 PubMed Europe PMC Scholia

History

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CompareRevisionActionTimeUserComment
115789view08:37, 12 March 2021Fehrhartupdate in progress
115777view14:01, 11 March 2021FehrhartModified description
115776view14:00, 11 March 2021Fehrhartupdate to GHRC37
111500view13:14, 20 August 2020FehrhartModified description
111499view13:05, 20 August 2020FehrhartOntology Term : 'disease pathway' added !
111498view13:04, 20 August 2020FehrhartOntology Term : 'chromosome 15q13.3 microdeletion syndrome' added !
111497view13:03, 20 August 2020FehrhartOntology Term : 'genetic disease' added !
111496view13:00, 20 August 2020Fehrhartwork in progress
111488view09:06, 20 August 2020Fehrhartwork in progress
111483view12:19, 19 August 2020Fehrhartwork in progress
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

DataNodes

View all...
NameTypeDatabase referenceComment
ADP/ATP translocasesGeneProductPF00153 (Pfam)
ARHGAP11BGeneProductENSG00000285077 (Ensembl)
AcetylcholineMetaboliteCHEBI:15355 (ChEBI)
Alpha-BungarotoxinMetaboliteQ1159221 (Wikidata)
CCL5GeneProductENSG00000271503 (Ensembl)
CHRFAM7AGeneProductENSG00000166664 (Ensembl)
CHRNA7GeneProductENSG00000175344 (Ensembl)
CREBBPGeneProductENSG00000005339 (Ensembl)
DNAMetaboliteCHEBI:16991 (ChEBI)
DNM1P50GeneProductENSG00000259890 (Ensembl)
FAN1GeneProductENSG00000198690 (Ensembl)
FANCD2GeneProductENSG00000144554 (Ensembl)
FYNGeneProductENSG00000010810 (Ensembl)
Fanconi Anemia PathwayPathwayWP3569 (WikiPathways)
GOLGA8HGeneProductENSG00000261794 (Ensembl)
GOLGA8QGeneProductENSG00000178115 (Ensembl)
GOLGA8RGeneProductENSG00000186399 (Ensembl)
GOLGA8UPGeneProductENSG00000103832 (Ensembl)
GPR75GeneProductENSG00000119737 (Ensembl)
GRM6GeneProductENSG00000113262 (Ensembl)
HERC2P10GeneProductENSG00000259845 (Ensembl)
KAT2BGeneProductENSG00000114166 (Ensembl)
KLF13GeneProductENSG00000169926 (Ensembl)
LINC02352GeneProductENSG00000259448 (Ensembl)
MTMR10GeneProductENSG00000166912 (Ensembl)
OTUD7AGeneProductENSG00000169918 (Ensembl)
RN7SL196PGeneProductENSG00000274424 (Ensembl)
RN7SL628PGeneProductENSG00000277467 (Ensembl)
RN7SL796PGeneProductENSG00000277031 (Ensembl)
RN7SL82PGeneProductENSG00000278696 (Ensembl)
RNU6-17PGeneProductENSG00000206972 (Ensembl)
RNU6-18PGeneProductENSG00000207257 (Ensembl)
RNU6-466PGeneProductENSG00000212526 (Ensembl)
SERPINH1GeneProductENSG00000149257 (Ensembl)
TRPM1GeneProductENSG00000134160 (Ensembl)
UBE2CP4GeneProductENSG00000259179 (Ensembl)
ULK4P2GeneProductENSG00000260128 (Ensembl)
glutamateMetaboliteCHEBI:14321 (ChEBI)
hsa-mir-211RnaMI0000287 (miRBase Sequence)

Annotated Interactions

No annotated interactions

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