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.


Friederike Ehrhart and Egon Willighagen


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Homo sapiens


Rare Diseases


Disease Ontology

chromosome 15q13.3 microdeletion syndrome genetic disease

Pathway 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
FANCD2 GeneProduct ensembl:ENSG00000144554
CCL5 GeneProduct ensembl:ENSG00000271503
SERPINH1 GeneProduct ensembl:ENSG00000149257
KAT2B GeneProduct ensembl:ENSG00000114166


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