15q11q13 copy number variation (WP5407)

Homo sapiens

Deletions or duplications of the region 15q11q13 are rare genetic copy number variations that have an increased risk of neuropsychiatric disorders. The most reported breakpoints are between chr15:29161368-30375967 (BP3-4) or chr15:29161368-32462776 (BP 3-5) (GRCh37). The chromosomal positions are taken from Kirov et al. 2014. 10.1016/j.biopsych.2013.07.022 and literature cited there.

Authors

Friederike Ehrhart , Egon Willighagen , Pierre Klemmer , and Eric Weitz

Activity

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Cited In

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Organisms

Homo sapiens

Communities

Rare Diseases

Annotations

Pathway Ontology

disease pathway

Disease Ontology

chromosomal deletion syndrome chromosomal duplication syndrome

Participants

Label Type Compact URI Comment
glutamate Metabolite chebi:14321
Na+ Metabolite chebi:29101
Ni2+ Metabolite chebi:49786
Mg2+ Metabolite chebi:18420
Ba2+ Metabolite chebi:37136
Ca2+ Metabolite chebi:29108
Zn2+ Metabolite chebi:27363
Mn2+ Metabolite chebi:29035
Acetylcholine Metabolite hmdb:HMDB00895
MIR211 GeneProduct ensembl:ENSG00000207702
SLF2 GeneProduct uniprot:Q8IX21
SMC5 GeneProduct uniprot:Q8IY18
EID3 GeneProduct uniprot:Q8N140
NSMCE1 GeneProduct uniprot:Q8WV22
NSMCE2 GeneProduct uniprot:Q96MF7
NSMCE3 GeneProduct uniprot:Q96MG7
SMC6 GeneProduct uniprot:Q96SB8
SLF1 GeneProduct uniprot:Q9BQI6
Claudins GeneProduct interpro:IPR004031
SERPINH1 GeneProduct ensembl:ENSG00000149257
RIC3 GeneProduct ensembl:ENSG00000166405
MYZAP GeneProduct ensembl:ENSG00000263155
CHRNA7 GeneProduct ensembl:ENSG00000175344
RELA GeneProduct ensembl:ENSG00000173039
FANCD2 GeneProduct ensembl:ENSG00000144554
NSMCE3 GeneProduct ensembl:ENSG00000185115 NDNL2, MAGEG1
TJP3 GeneProduct ensembl:ENSG00000105289
FANCI GeneProduct ensembl:ENSG00000140525
TJP1 GeneProduct ensembl:ENSG00000104067
CDC42BPB GeneProduct ensembl:ENSG00000198752
GJD3 GeneProduct ensembl:ENSG00000183153
OTUD7A GeneProduct ensembl:ENSG00000169918
MITF GeneProduct ensembl:ENSG00000187098
STX1A GeneProduct ensembl:ENSG00000106089
TRPM1 GeneProduct ensembl:ENSG00000134160
GJC2 GeneProduct ensembl:ENSG00000198835 GJA12
SPEF1 GeneProduct ensembl:ENSG00000101222
F-actin GeneProduct interpro:IPR004000
STX1B GeneProduct ensembl:ENSG00000099365
GOLGA8T GeneProduct ensembl:ENSG00000261247
STXBP1 GeneProduct ensembl:ENSG00000136854
TRPM3 GeneProduct ensembl:ENSG00000083067
HDAC1 GeneProduct ensembl:ENSG00000116478
GOLGA8H GeneProduct ensembl:ENSG00000261794
OCLN GeneProduct ensembl:ENSG00000197822
KLF13 GeneProduct ensembl:ENSG00000169926
NECAB3 GeneProduct ensembl:ENSG00000125967
FAN1 GeneProduct ensembl:ENSG00000198690
UBN1 GeneProduct ensembl:ENSG00000118900
SIN3A GeneProduct ensembl:ENSG00000169375
CGN GeneProduct ensembl:ENSG00000143375
CALM GeneProduct ensembl:ENSG00000198668
ANKRD2 GeneProduct ensembl:ENSG00000165887
CCL5 GeneProduct ensembl:ENSG00000271503 RANTES
GJA1 GeneProduct ensembl:ENSG00000152661
APP GeneProduct ensembl:ENSG00000142192
CANX GeneProduct ensembl:ENSG00000127022 NACHO?
GOLGA8R GeneProduct ensembl:ENSG00000186399
DNMBP GeneProduct ensembl:ENSG00000107554
ENTREP2 GeneProduct ensembl:ENSG00000104059 FAM189A1, KIAA0574
KAT2B GeneProduct ensembl:ENSG00000114166 PCAF, P300/CBP-associated factor
GOLGA8Q GeneProduct ensembl:ENSG00000178115
TJP2 GeneProduct ensembl:ENSG00000119139
MTMR10 GeneProduct ensembl:ENSG00000166912
LYPD6 GeneProduct ensembl:ENSG00000187123
GOLGA8J GeneProduct ensembl:ENSG00000179938
CXADR GeneProduct ensembl:ENSG00000154639
APBA2 GeneProduct ensembl:ENSG00000034053
CREBBP GeneProduct ensembl:ENSG00000005339

References

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