15q25 copy number variation (Homo sapiens)

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7101731421812912, 1816177, 13191116FibronectinExact function unknownUnknown functionRegulates keratinocytes differentiating in squamous epithelia and hair folliclesCleaves N-terminal signal sequence when transporting proteins from cytoplasm to ER lumenProtein kinase involvedin cardiac developmentMicrotubule mediatedER to Golgi transportchr15:85722039Adds polyadenyl tailsto mRNA 3'-UTRchr15:83219735Transcriptional regulatorCNS developmentcell20115, 6, 8, 154Actin-related protein 2/3 complexWDR73TENT4BAP3D1BTBD1UridineSEC11ASYNJ1CPEB1SPCS3WHAMMAP3B2AP3D1CytidineAP3B2EGFL-serine residue AP3S1RYR1ADPSHANK1PDE8ARNMTRYR2SPCS2AGAP2SPCS1GOLGA6L4L-threonine residue AP3M2ITPR1MIR4515GRM5SLC2A1DNM3Signal peptidase complexAP3S1O-phospho-L-serine residueBNC1SLC28A1SHANK3RAMACNMBRATPGRM1NMBTOP1RAF1ThymidineC15orf40HTTUBE2Q2LTM6SF1ZSCAN2cAMPO-phospho-L-threonine residueAP3B2ADAMTSL3ZNF592G alpha (q) signaling eventsSH3GL3HOMER2AMPAdenosineNeuronal AP-3 adaptor complexAP3M2ALPK3FSD2777777RAMAC7RNMTUnknown functionUnknown functionUnknown functionUnknown functiongolginUnknown functionunknown functionSEC11AAdenosineThymidineCytidineUridine


Description

15q25.2 or generally 15q25 copy number variations are rare genetic disorders that cause neuropsychiatric disorders, developmental delay and cardiac abnormalities. The exact chromosomal position for this pathway (chr15:83219735-85722039, GRCh37) was 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
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

View all...
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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