15q25 copy number variation (Homo sapiens)

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181416927, 131716111731212, 1871019Microtubule mediatedER to Golgi transportchr15:83219735FibronectinExact function unknownRegulates keratinocytes differentiating in squamous epithelia and hair folliclesAdds polyadenyl tailsto mRNA 3'-UTRchr15:85722039Unknown functioncellCleaves N-terminal signal sequence when transporting proteins from cytoplasm to ER lumenTranscriptional regulatorCNS developmentProtein kinase involvedin cardiac development1145, 6, 8, 1520UBE2Q2LO-phospho-L-threonine residueSEC11ATM6SF1AP3D1RYR1TENT4BThymidineC15orf40WDR73SLC2A1AdenosineO-phospho-L-serine residueAP3B2SPCS3ADAMTSL3ZSCAN2HOMER2EGFL-serine residue BNC1AP3S1AP3M2TOP1AP3B2SLC28A1AP3B2Neuronal AP-3 adaptor complexRYR2SHANK1NMBRALPK3L-threonine residue ZNF592AP3D1cAMPSYNJ1CytidineRNMTSPCS2GRM1CPEB1Actin-related protein 2/3 complexAP3S1SH3GL3ADPRAMACBTBD1GOLGA6L4GRM5ITPR1Signal peptidase complexAMPG alpha (q) signaling eventsSHANK3WHAMMPDE8AMIR4515ATPAGAP2DNM3RAF1HTTFSD2UridineAP3M2SPCS1NMB7777777RAMACRNMTUnknown 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-2490 (Complex Portal) Complex 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-5055 (Complex Portal) Complex 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 (Complex Portal)
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)
Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP5408"
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