15q11q13 copy number variation (Homo sapiens)

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2922, 2325, 26311, 24191119813, 1820154, 7910, 271251419242, 6, 16, 17, 21...434chr15:30375967breakpoint 4chr15:29161368breakpoint 3unknownfunctiontranscriptiondarkNicotinic acteylcholine receptoropens ion channels upon bindingchr15:32462776breakpoint 5unknownfunctioncellDNA interstrand crosslink repairSTX1BSIN3AEID3NECAB3NSMCE2UBN1CHRNA7SMC6NSMCE3SLF1AcetylcholineDeubiquitinationMYZAPMTMR10FAN1SMC5SLF2CGNTJP3NSMCE3CCL5TRPM1STXBP1LYPD6CDC42BPBFANCISERPINH1DNMBPMITFNa+RELACa2+GOLGA8TANKRD2RIC3SMC5-SMC6 SUMO ligase complexSPEF1Mg2+Zn2+TJP1HDAC1CALMGJD3APBA2CANXCXADRClaudinsF-actinNi2+GOLGA8HOCLNGJC2Ba2+glutamateGOLGA8JKLF13STX1AGJA1GOLGA8RTJP2CREBBPENTREP2TRPM3NSMCE1FANCD2KAT2BMIR211Mn2+OTUD7AGOLGA8QAPP888882, 6, 16, 17, 21...2, 6, 16, 17, 21...2, 6, 16, 17, 21...2, 6, 16, 17, 21...2, 6, 16, 17, 21...2, 6, 16, 17, 21...2, 6, 16, 17, 21...unknownfunction25, 26unknownfunctionunknownfunctionunknownfunctionunknownfunctionTRPM1Zn2+Ni2+Mg2+Ba2+Ca2+Mn2+Na+1414


Description

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.

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Bibliography

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History

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CompareRevisionActionTimeUserComment
129010view12:43, 4 March 2024PklemmerRemoved linebreak in SMC5-SMC6 SUMO ligase complex label
127173view07:38, 9 August 2023EgonwFixed a Ensembl identifier
127163view08:31, 8 August 2023FehrhartOntology Term : 'chromosomal duplication syndrome' added !
127162view08:31, 8 August 2023FehrhartOntology Term : 'chromosomal deletion syndrome' added !
127161view08:30, 8 August 2023FehrhartOntology Term : 'disease pathway' added !
127160view08:28, 8 August 2023FehrhartModified description
127159view08:21, 8 August 2023FehrhartNew pathway

External references

DataNodes

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NameTypeDatabase referenceComment
ANKRD2GeneProductENSG00000165887 (Ensembl)
APBA2GeneProductENSG00000034053 (Ensembl)
APPGeneProductENSG00000142192 (Ensembl)
AcetylcholineMetaboliteHMDB00895 (HMDB)
Ba2+MetaboliteCHEBI:37136 (ChEBI)
CALMGeneProductENSG00000198668 (Ensembl)
CANXGeneProductENSG00000127022 (Ensembl) NACHO?
CCL5GeneProductENSG00000271503 (Ensembl) RANTES
CDC42BPBGeneProductENSG00000198752 (Ensembl)
CGNGeneProductENSG00000143375 (Ensembl)
CHRNA7GeneProductENSG00000175344 (Ensembl)
CREBBPGeneProductENSG00000005339 (Ensembl)
CXADRGeneProductENSG00000154639 (Ensembl)
Ca2+MetaboliteCHEBI:29108 (ChEBI)
ClaudinsGeneProductIPR004031 (InterPro)
DNMBPGeneProductENSG00000107554 (Ensembl)
DeubiquitinationPathwayWP4102 (WikiPathways)
EID3GeneProductQ8N140 (Uniprot-TrEMBL)
ENTREP2GeneProductENSG00000104059 (Ensembl) FAM189A1, KIAA0574
F-actinGeneProductIPR004000 (InterPro)
FAN1GeneProductENSG00000198690 (Ensembl)
FANCD2GeneProductENSG00000144554 (Ensembl)
FANCIGeneProductENSG00000140525 (Ensembl)
GJA1GeneProductENSG00000152661 (Ensembl)
GJC2GeneProductENSG00000198835 (Ensembl) GJA12
GJD3GeneProductENSG00000183153 (Ensembl)
GOLGA8HGeneProductENSG00000261794 (Ensembl)
GOLGA8JGeneProductENSG00000179938 (Ensembl)
GOLGA8QGeneProductENSG00000178115 (Ensembl)
GOLGA8RGeneProductENSG00000186399 (Ensembl)
GOLGA8TGeneProductENSG00000261247 (Ensembl)
HDAC1GeneProductENSG00000116478 (Ensembl)
KAT2BGeneProductENSG00000114166 (Ensembl) PCAF, P300/CBP-associated factor
KLF13GeneProductENSG00000169926 (Ensembl)
LYPD6GeneProductENSG00000187123 (Ensembl)
MIR211GeneProductENSG00000207702 (Ensembl)
MITFGeneProductENSG00000187098 (Ensembl)
MTMR10GeneProductENSG00000166912 (Ensembl)
MYZAPGeneProductENSG00000263155 (Ensembl)
Mg2+MetaboliteCHEBI:18420 (ChEBI)
Mn2+MetaboliteCHEBI:29035 (ChEBI)
NECAB3GeneProductENSG00000125967 (Ensembl)
NSMCE1GeneProductQ8WV22 (Uniprot-TrEMBL)
NSMCE2GeneProductQ96MF7 (Uniprot-TrEMBL)
NSMCE3GeneProductENSG00000185115 (Ensembl) NDNL2, MAGEG1
NSMCE3GeneProductQ96MG7 (Uniprot-TrEMBL)
Na+MetaboliteCHEBI:29101 (ChEBI)
Ni2+MetaboliteCHEBI:49786 (ChEBI)
OCLNGeneProductENSG00000197822 (Ensembl)
OTUD7AGeneProductENSG00000169918 (Ensembl)
RELAGeneProductENSG00000173039 (Ensembl)
RIC3GeneProductENSG00000166405 (Ensembl)
SERPINH1GeneProductENSG00000149257 (Ensembl)
SIN3AGeneProductENSG00000169375 (Ensembl)
SLF1GeneProductQ9BQI6 (Uniprot-TrEMBL)
SLF2GeneProductQ8IX21 (Uniprot-TrEMBL)
SMC5-SMC6 SUMO ligase complexComplexCPX-5992Complex portal
SMC5GeneProductQ8IY18 (Uniprot-TrEMBL)
SMC6GeneProductQ96SB8 (Uniprot-TrEMBL)
SPEF1GeneProductENSG00000101222 (Ensembl)
STX1AGeneProductENSG00000106089 (Ensembl)
STX1BGeneProductENSG00000099365 (Ensembl)
STXBP1GeneProductENSG00000136854 (Ensembl)
TJP1GeneProductENSG00000104067 (Ensembl)
TJP2GeneProductENSG00000119139 (Ensembl)
TJP3GeneProductENSG00000105289 (Ensembl)
TRPM1GeneProductENSG00000134160 (Ensembl)
TRPM3GeneProductENSG00000083067 (Ensembl)
UBN1GeneProductENSG00000118900 (Ensembl)
Zn2+MetaboliteCHEBI:27363 (ChEBI)
glutamateMetaboliteCHEBI:14321 (ChEBI)

Annotated Interactions

No annotated interactions

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