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

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7291113310125, 14815, 143Regulation of photosensitiviyof retinaSchizophrenia risk genedendritic growthneuronal developmentASD risk geneChromosome 15:32,500,000RNA geneFunction unclearInactive phosphatidyl-inositol 3-phosphatase 10Source: https://www.uniprot.org/uniprot/Q9NXD2neocortex developmentrecruitment and stimulation ofleukocytes and NKsincreased Ca2+ fluxupon stimulationlightChromosome 15:30,500,00 ubiquitinated proteintumor growthexact function unclearpossibly involved in golgiapparatus organizationstacking of cristaeunspecific cation channelGOLGA8RLINC02352ARHGAP11BOTUD7ACREBBPGOLGA8UPGPR75DNAMTMR10GOLGA8HHERC2P10CHRFAM7AglutamateTRPM1GOLGA8QRNU6-17PRN7SL82PRN7SL196PCHRNA7hsa-mir-211UBE2CP4RNU6-466PRN7SL628PULK4P2KLF13RNU6-18PDNM1P50RN7SL796PFYNGRM6FAN1Alpha-BungarotoxinFanconi Anemia PathwayAcetylcholineADP/ATP translocasesCCL5FANCD2pseudo geneexact function unclearpossibly involved in golgiapparatus organizationstacking of cristaeUFANCD2U64CCL5SERPINH1KAT2B99


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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Bibliography

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  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
134608view10:10, 23 July 2024EweitzOntology Term : 'chromosomal deletion syndrome' added !
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

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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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