15q24 copy number variation (Homo sapiens)

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ArcPathVisio Brace Ellipse EndoplasmicReticulum GolgiApparatus HexagonPathVisio MimDegradation Mitochondria Octagon PentagonPathVisio Rectangle RoundedRectangle SarcoplasmicReticulum TriangleEquilateralEast TrianglePathVisio none chr15:78151253formation ofPML-nuclear bodiesSUMOylationchr15:72900171Golgin variationexact function unknownCellcell in the pacemakerarea of the heartexact functionunknowncrosslinks and stabilizes collagensand elastinsaxon extensionneuronal developmentdirects STOM from plasma membrane tolate endosomespart of inhibitorysynapsisHypoxiaSpermatogenesisT cell responseSEMA7AUBL7ARID3BEDC3CYP1A1CYP1A2CSKMIR4513LMAN1LCPLX3ULK3SCAMP2MPIFAM219BCOX5ARPP25SCAMP5PPCDCC15orf39GOLGA6CGOLGA6DCOMMD4NEIL1MIR631MAN2C1SIN3APTPN9SNUPNIMP3SNX33CSPG4ODF3L1MIR4313UBE2Q2FBXO22NRG4C15orf27ETFAISL2SCAPERMIR3713RCN2PSTPIP1TSPAN3PEAK1HMG20ALINGO1RHOBTB3CCDC33SLC25A20CHEK2PMLLMLNPTK2pregnenoloneADPSTAT5AREC114ISLR2STRA6cAMPINSYN1CLK3CNPY3RAB3AADPGKK+CDK2SRSF1ISLRBBS4SRSF3NEO1XKR8STOMD-glucose 6-phosphateSGPL1LOXL1CD276ATP2B1FBLN5TREML2TP53HIGD2BMDM2STOML1GOLGA6BGOLGA6ACYP11A1JAK2cholesterolTBC1D21FBXW7BMP7NPTND-glucoseSTAT5BAMPHCN4RBP5retinolBBIP1BBS9BBS7BBS5BBS1TTC8BBS4BBS2BBSome complexBMP7RGMBBMP6BMP4BMP2RGMAIHO1MEI4ANKRD31retinolRBP1RBP2retinolRBP7retinolfunctionunknownpossibly pseudogeneK+retinolSRSF1SRSF3Name: 15q24 copy number variationOrganism: Homo sapiens


Description

15q24 - under construction

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Quality Tags

Image:NeedsWork.pngNeeds work

Ontology Terms

Pathway Ontology : disease pathway
 

Bibliography

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History

View all...
CompareRevisionActionTimeUserComment
136292view13:43, 22 January 2025Fehrhartongoing work
136288view09:54, 22 January 2025Fehrhartongoing work
136287view09:40, 22 January 2025Fehrhartcontinued construction work
127199view14:23, 15 August 2023Fehrhartwork in progress
127195view09:00, 11 August 2023FehrhartNew pathway

External references

DataNodes

View all...
Name  ↓Type  ↓Database reference  ↓Comment  ↓
ADPMetabolite456216 (ChEBI)
ADPGKGeneProductENSG00000159322 (Ensembl)
AMPMetabolite456215 (ChEBI)
ANKRD31GeneProductENSG00000145700 (Ensembl)
ARID3BGeneProductENSG00000179361 (Ensembl)
ATP2B1GeneProductENSG00000070961 (Ensembl)
BBIP1GeneProductA8MTZ0 (Uniprot-TrEMBL)
BBS1GeneProductQ8NFJ9 (Uniprot-TrEMBL)
BBS2GeneProductQ9BXC9 (Uniprot-TrEMBL)
BBS4GeneProductENSG00000140463 (Ensembl)
BBS4GeneProductQ96RK4 (Uniprot-TrEMBL)
BBS5GeneProductQ8N3I7 (Uniprot-TrEMBL)
BBS7GeneProductQ8IWZ6 (Uniprot-TrEMBL)
BBS9GeneProductQ3SYG4 (Uniprot-TrEMBL)
BBSome complexComplexCPX-1908
BMP2GeneProductENSG00000125845 (Ensembl)
BMP4GeneProductENSG00000125378 (Ensembl)
BMP6GeneProductENSG00000153162 (Ensembl)
BMP7GeneProductENSG00000101144 (Ensembl)
C15orf27GeneProductENSG00000169758 (Ensembl)
C15orf39GeneProductENSG00000167173 (Ensembl)
CCDC33GeneProductENSG00000140481 (Ensembl)
CD276GeneProductENSG00000103855 (Ensembl) B7-H3
CDK2GeneProductENSG00000123374 (Ensembl)
CHEK2GeneProductENSG00000183765 (Ensembl)
CLK3GeneProductENSG00000179335 (Ensembl)
CNPY3GeneProductENSG00000137161 (Ensembl)
COMMD4GeneProductENSG00000140365 (Ensembl)
COX5AGeneProductENSG00000178741 (Ensembl)
CPLX3GeneProductENSG00000213578 (Ensembl)
CSKGeneProductENSG00000103653 (Ensembl)
CSPG4GeneProductENSG00000173546 (Ensembl)
CYP11A1GeneProductENSG00000140459 (Ensembl)
CYP1A1GeneProductENSG00000140465 (Ensembl)
CYP1A2GeneProductENSG00000140505 (Ensembl)
D-glucose 6-phosphateMetabolite61548 (ChEBI)
D-glucoseMetabolite4167 (ChEBI)
EDC3GeneProductENSG00000179151 (Ensembl)
ETFAGeneProductENSG00000140374 (Ensembl)
FAM219BGeneProductENSG00000178761 (Ensembl)
FBLN5GeneProductENSG00000140092 (Ensembl)
FBXO22GeneProductENSG00000167196 (Ensembl)
FBXW7GeneProductENSG00000109670 (Ensembl)
GOLGA6AGeneProductENSG00000159289 (Ensembl)
GOLGA6BGeneProductENSG00000215186 (Ensembl)
GOLGA6CGeneProductENSG00000167195 (Ensembl)
GOLGA6DGeneProductENSG00000140478 (Ensembl)
HCN4GeneProductENSG00000138622 (Ensembl)
HIGD2BGeneProductENSG00000175202 (Ensembl)
HMG20AGeneProductENSG00000140382 (Ensembl)
IHO1GeneProductENSG00000173421 (Ensembl)
IMP3GeneProductENSG00000177971 (Ensembl)
INSYN1GeneProductENSG00000205363 (Ensembl) C15orf59
ISL2GeneProductENSG00000159556 (Ensembl)
ISLR2GeneProductENSG00000167178 (Ensembl)
ISLRGeneProductENSG00000129009 (Ensembl)
JAK2GeneProductENSG00000096968 (Ensembl)
K+MetaboliteCHEBI:29103 (ChEBI)
LINGO1GeneProductENSG00000169783 (Ensembl)
LMAN1LGeneProductENSG00000140506 (Ensembl)
LMLNGeneProductENSG00000185621 (Ensembl)
LOXL1GeneProductENSG00000129038 (Ensembl)
MAN2C1GeneProductENSG00000140400 (Ensembl)
MDM2GeneProductENSG00000135679 (Ensembl)
MEI4GeneProductENSG00000269964 (Ensembl)
MIR3713GeneProductENSG00000266449 (Ensembl)
MIR4313GeneProductENSG00000261043 (Ensembl)
MIR4513GeneProductENSG00000264386 (Ensembl)
MIR631GeneProductENSG00000207636 (Ensembl)
MPIGeneProductENSG00000178802 (Ensembl)
NEIL1GeneProductENSG00000140398 (Ensembl)
NEO1GeneProductENSG00000067141 (Ensembl)
NPTNGeneProductENSG00000156642 (Ensembl)
NRG4GeneProductENSG00000169752 (Ensembl)
ODF3L1GeneProductENSG00000182950 (Ensembl)
PEAK1GeneProductENSG00000173517 (Ensembl)
PMLGeneProductENSG00000140464 (Ensembl)
PPCDCGeneProductENSG00000138621 (Ensembl)
PSTPIP1GeneProductENSG00000140368 (Ensembl)
PTK2GeneProductENSG00000169398 (Ensembl)
PTPN9GeneProductENSG00000169410 (Ensembl)
RAB3AGeneProductENSG00000105649 (Ensembl)
RBP1GeneProductENSG00000114115 (Ensembl)
RBP2GeneProductENSG00000114113 (Ensembl)
RBP5GeneProductENSG00000139194 (Ensembl)
RBP7GeneProductENSG00000162444 (Ensembl)
RCN2GeneProductENSG00000117906 (Ensembl)
REC114GeneProductENSG00000183324 (Ensembl) C15orf60
RGMAGeneProductENSG00000182175 (Ensembl)
RGMBGeneProductENSG00000174136 (Ensembl)
RHOBTB3GeneProductENSG00000164292 (Ensembl)
RPP25GeneProductENSG00000178718 (Ensembl)
SCAMP2GeneProductENSG00000140497 (Ensembl)
SCAMP5GeneProductENSG00000198794 (Ensembl)
SCAPERGeneProductENSG00000140386 (Ensembl)
SEMA7AGeneProductENSG00000138623 (Ensembl)
SGPL1GeneProductENSG00000166224 (Ensembl)
SIN3AGeneProductENSG00000169375 (Ensembl)
SLC25A20GeneProductENSG00000178537 (Ensembl)
SNUPNGeneProductENSG00000169371 (Ensembl)
SNX33GeneProductENSG00000173548 (Ensembl)
SRSF1GeneProductENSG00000136450 (Ensembl)
SRSF3GeneProductENSG00000112081 (Ensembl)
STAT5AGeneProductENSG00000126561 (Ensembl)
STAT5BGeneProductENSG00000173757 (Ensembl)
STOMGeneProductENSG00000148175 (Ensembl)
STOML1GeneProductENSG00000067221 (Ensembl)
STRA6GeneProductENSG00000137868 (Ensembl)
TBC1D21GeneProductENSG00000167139 (Ensembl)
TP53GeneProductENSG00000141510 (Ensembl)
TREML2GeneProductENSG00000112195 (Ensembl)
TSPAN3GeneProductENSG00000140391 (Ensembl)
TTC8GeneProductQ8TAM2 (Uniprot-TrEMBL)
UBE2Q2GeneProductENSG00000140367 (Ensembl)
UBL7GeneProductENSG00000138629 (Ensembl)
ULK3GeneProductENSG00000140474 (Ensembl)
XKR8GeneProductENSG00000158156 (Ensembl)
cAMPMetaboliteCHEBI:17489 (ChEBI)
cholesterolMetaboliteCHEBI:16113 (ChEBI)
pregnenoloneMetaboliteCHEBI:16581 (ChEBI)
retinolMetaboliteCHEBI:17336 (ChEBI)

Annotated Interactions

Source  ↓Target  ↓Type  ↓Database reference  ↓Comment  ↓
ADPAMPmim-conversion11460 (Rhea)
D-glucoseD-glucose 6-phosphatemim-conversion11460 (Rhea)
cholesterolpregnenolonemim-conversion35739 (Rhea)
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