15q25 copy number variation (Homo sapiens)

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8141011219115362012136, 7202, 5cellregulates keratinocytes differentiating in squamous epithelia and hair folliclescleaves N-terminal signal sequence when transporting proteins from cytoplasm to ER lumenTranscriptional regulatorCNS developmentadds polyadenyl tailsto mRNA 3'-UTRmicrotubule mediatedER to Golgi transportprotein kinase involvedin cardiac developmentunknown functionchr15:83219735chr15:85722039fibronectinexact function unknown1491315-18ATPSYNJ1DNM3ThymidineNeuronal AP-3Adaptor complexWDR73O-phospho-L-serine residueNMBRCytidineAP3B2RYR2AP3D1BNC1AP3B2RYR1SHANK1BTBD1TOP1L-threonine residue ADAMTSL3SLC28A1GOLGA6L4SHANK3AP3M2G alpha (q) signaling eventsALPK3C15orf40SLC2A1AP3M2UBE2Q2LHTTCPEB1SH3GL3TM6SF1GRM1WHAMMADPSPCS2O-phospho-L-threonine residueRAF1ITPR1ZNF592AP3B2RAMACFSD2RNMTHOMER2UridineSEC11AAMPMIR4515Actin-related protein 2/3 complexTENT4BL-serine residue Signal peptidase complexAP3D1AGAP2EGFcAMPNMBAP3S1ZSCAN2SPCS3SPCS1AP3S1PDE8AGRM5Adenosine5555555RAMACRNMTunknown functionunknown functionunknown functionunknown functiongolginunknown functionunknown functionSEC11AAdenosineThymidineCytidineUridine


Description

15q25.2 chr15:83219735-85722039 Kirov et al. 2014 10.1016/j.biopsych.2013.07.022

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Ontology Terms

 

Bibliography

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History

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CompareRevisionActionTimeUserComment
134535view17:17, 22 July 2024EgonwAdded missing datasources
134421view23:11, 21 July 2024EweitzStandardize case
129009view12:41, 4 March 2024PklemmerRemoved line breaks from actin-related protein 2/3 complex and neuronal ap-3 adaptor complex labels
127198view00:11, 15 August 2023AlexanderPicoremoved tab from description
127167view19:23, 8 August 2023FehrhartOntology Term : 'chromosome 15q25 deletion syndrome' added !
127166view19:23, 8 August 2023FehrhartOntology Term : 'disease pathway' added !
127165view19:22, 8 August 2023FehrhartModified description
127164view19:19, 8 August 2023FehrhartNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
ADAMTSL3GeneProductENSG00000156218 (Ensembl)
ADPMetaboliteCHEBI:456216 (ChEBI)
AGAP2GeneProductENSG00000135439 (Ensembl)
ALPK3GeneProductENSG00000136383 (Ensembl)
AMPMetabolite456215 (ChEBI)
AP3B2GeneProductENSG00000103723 (Ensembl)
AP3B2GeneProductQ13367 (Uniprot-TrEMBL)
AP3D1GeneProductO14617 (Uniprot-TrEMBL)
AP3M2GeneProductP53677 (Uniprot-TrEMBL)
AP3S1GeneProductQ92572 (Uniprot-TrEMBL)
ATPMetaboliteCHEBI:30616 (ChEBI)
Actin-related protein 2/3 complexComplexCPX-2490Complex portal
AdenosineMetaboliteCHEBI:16335 (ChEBI)
BNC1GeneProductENSG00000169594 (Ensembl)
BTBD1GeneProductENSG00000064726 (Ensembl)
C15orf40GeneProductENSG00000169609 (Ensembl)
CPEB1GeneProductENSG00000214575 (Ensembl)
CytidineMetaboliteCHEBI:17562 (ChEBI)
DNM3GeneProductENSG00000197959 (Ensembl)
EGFGeneProductENSG00000138798 (Ensembl)
FSD2GeneProductENSG00000186628 (Ensembl)
G alpha (q) signaling eventsPathwayWP4424 (WikiPathways)
GOLGA6L4GeneProductENSG00000184206 (Ensembl)
GRM1GeneProductENSG00000152822 (Ensembl)
GRM5GeneProductENSG00000168959 (Ensembl)
HOMER2GeneProductENSG00000103942 (Ensembl)
HTTGeneProductENSG00000197386 (Ensembl)
ITPR1GeneProductENSG00000150995 (Ensembl)
L-serine residue Metabolite29999 (ChEBI)
L-threonine residue Metabolite30013 (ChEBI)
MIR4515GeneProductENSG00000263643 (Ensembl)
NMBGeneProductENSG00000197696 (Ensembl)
NMBRGeneProductENSG00000135577 (Ensembl)
Neuronal AP-3 Adaptor complexComplexCPX-5055Complex portal
O-phospho-L-serine residueMetabolite83421 (ChEBI)
O-phospho-L-threonine residueMetabolite61977 (ChEBI)
PDE8AGeneProductENSG00000073417 (Ensembl)
RAF1GeneProductENSG00000132155 (Ensembl)
RAMACGeneProductENSG00000169612 (Ensembl) FAM103A1
RNMTGeneProductENSG00000101654 (Ensembl)
RYR1GeneProductENSG00000196218 (Ensembl)
RYR2GeneProductENSG00000198626 (Ensembl)
SEC11AGeneProductENSG00000140612 (Ensembl)
SH3GL3GeneProductENSG00000140600 (Ensembl)
SHANK1GeneProductENSG00000161681 (Ensembl)
SHANK3GeneProductENSG00000251322 (Ensembl)
SLC28A1GeneProductENSG00000156222 (Ensembl)
SLC2A1GeneProductENSG00000117394 (Ensembl) GLUT1
SPCS1GeneProductENSG00000114902 (Ensembl)
SPCS2GeneProductENSG00000118363 (Ensembl)
SPCS3GeneProductENSG00000129128 (Ensembl)
SYNJ1GeneProductENSG00000159082 (Ensembl)
Signal peptidase complexComplexCPX-2847
TENT4BGeneProductENSG00000121274 (Ensembl) GLD4
TM6SF1GeneProductENSG00000136404 (Ensembl)
TOP1GeneProductENSG00000198900 (Ensembl)
ThymidineMetaboliteCHEBI:17748 (ChEBI)
UBE2Q2LGeneProductENSG00000259511 (Ensembl)
UridineMetaboliteCHEBI:16704 (ChEBI)
WDR73GeneProductENSG00000177082 (Ensembl)
WHAMMGeneProductENSG00000156232 (Ensembl)
ZNF592GeneProductENSG00000166716 (Ensembl)
ZSCAN2GeneProductENSG00000176371 (Ensembl)
cAMPMetabolite58165 (ChEBI)

Annotated Interactions

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SourceTargetTypeDatabase referenceComment
ATPADPmim-conversion17989 (Rhea)
AdenosineAdenosineArrow69927 (Rhea)
CytidineCytidineArrow69895 (Rhea)
L-serine residue O-phospho-L-serine residuemim-conversion17989 (Rhea)
L-threonine residue O-phospho-L-threonine residuemim-conversion46608 (Rhea)
ThymidineThymidineArrow69891 (Rhea)
UridineUridineArrow69887 (Rhea)
cAMPAMPmim-conversion25277 (Rhea)
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