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

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9, 13129, 1310114586111273unspecific cation channelexact function unclearpossibly involved in golgiapparatus organizationstacking of cristaelightRegulation of photosensitiviyof retinatumor growthubiquitinated proteinneocortex developmentincreased Ca2+ fluxupon stimulationSchizophrenia risk generecruitment and stimulation ofleukocytes and NKsChromosome 15:32,500,000dendritic growthneuronal developmentASD risk geneFunction unclearInactive phosphatidyl-inositol 3-phosphatase 10Source: https://www.uniprot.org/uniprot/Q9NXD2Chromosome 15:30,500,00 RNA geneRN7SL796PUBE2CP4CCL5FYNGOLGA8UPGOLGA8KGOLGA8HGOLGA8OCHRNA7RN7SL539PKLF13DNM1P32FAN1GOLGA8QULK4P2LINC02352ADP/ATP translocasesDNAMTMR10AcetylcholineAlpha-BungarotoxinRNU6-466PDNM1P50RNU6-18PULK4P1CREBBPRN7SL82PRN7SL628PDNM1P31HERC2P10hsa-mir-211ARHGAP11BFANCD2glutamateRN7SL185PFanconi Anemia PathwayOTUD7ATRPM1GRM6GPR75pseudo geneexact function unclearpossibly involved in golgiapparatus organizationstacking of cristaeexact function unclearpossibly involved in golgiapparatus organizationstacking of cristaeexact function unclearpossibly involved in golgiapparatus organizationstacking of cristaeUFANCD2U2CCL54SERPINH1KAT2B11


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.

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Bibliography

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  7. 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
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  12. 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
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History

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CompareRevisionActionTimeUserComment
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)
CHRNA7GeneProductENSG00000175344 (Ensembl)
CREBBPGeneProductENSG00000005339 (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)
GPR75GeneProductENSG00000119737 (Ensembl)
GRM6GeneProductENSG00000113262 (Ensembl)
HERC2P10GeneProductENSG00000259845 (Ensembl)
KAT2BGeneProductENSG00000114166 (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)
SERPINH1GeneProductENSG00000149257 (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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