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 WeitzActivity
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Organisms
Homo sapiensCommunities
Annotations
Pathway Ontology
disease pathwayDisease Ontology
chromosomal deletion syndrome chromosomal duplication syndromeLabel | 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 |
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