15q11q13 copy number variation (Homo sapiens)

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26, 2728, 292222, 2322202, 331241516302413, 142517516-1221194, 52418DNA interstrand crosslink repairunknownfunctionchr15:29161368breakpoint 3unknownfunctionchr15:32462776breakpoint 5celldarkNicotinic acteylcholine receptoropens ion channels upon bindingchr15:30375967breakpoint 4transcriptionMg2+Zn2+ClaudinsCGNRIC3GJA1glutamateNSMCE2CHRNA7GJD3RELAGOLGA8QFANCINSMCE3MIR211EID3ANKRD2SLF1SMC6APPMITFMYZAPCANXSTX1BKLF13Na+STX1ASMC5-SMC6 SUMOligase complexLYPD6SPEF1GOLGA8TTJP3CCL5OCLNAcetylcholineFANCD2TJP1HDAC1Ca2+DNMBPTRPM1Ba2+Mn2+SMC5Ni2+TJP2DeubiquitinationSLF2GOLGA8HSTXBP1FAN1UBN1TRPM3CALMOTUD7ASIN3AF-actinGOLGA8RMTMR10NSMCE1CREBBPGOLGA8JNECAB3SERPINH1CDC42BPBCXADRKAT2BGJC2NSMCE3APBA2ENTREP2111116-126-126-126-126-126-126-12unknownfunction13, 14unknownfunctionunknownfunctionunknownfunctionunknownfunctionTRPM1Zn2+Ni2+Mg2+Ba2+Ca2+Mn2+Na+2525


Description

15q11q13

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Ontology Terms

 

Bibliography

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  13. Williams ME, Burton B, Urrutia A, Shcherbatko A, Chavez-Noriega LE, Cohen CJ, Aiyar J; ''Ric-3 promotes functional expression of the nicotinic acetylcholine receptor alpha7 subunit in mammalian cells.''; J Biol Chem, 2005 PubMed Europe PMC Scholia
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History

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CompareRevisionActionTimeUserComment
134534view17:09, 22 July 2024EgonwAdded a missing datasource
134422view23:14, 21 July 2024EweitzStandardize case
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

View all...
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)
SPEF1GeneProductSperm flagellar 1 (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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