10q11.21q11.23 copy number variation syndrome (Homo sapiens)

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21, 43, 63, 75, 10110310334702210390138582105374941251047944891252675835696671111828100737373833299459396815888301111777324618812738174747210360949441381191677330954936825292254623669107324050475871945986311628449formation of endocytic vesiclesneuronalplasticityLabelsynthesis of ATP in the nucleuschondrogenic tissue differentiationactivated KRAS-mediated transcriptional activation of USP28 in colorectal cancer (CRC) cellsproliferation and invasion activities of PC-3 prostate cancerciliogenesisneuromuscular synapseformationformation of correct projections from nociceptive sensory neurons to the dorsal hornnormal brain developmentserotonin transportprogrammed necrosis executionhydroxylation of carbon-hydrogen bondsEGFR endocytosismitochondrial and peroxisomal divisionunknown functionNo-Go Decay (NGD) pathwayactivation-induced cell death of T cellsTNF secretion by monocytescartilage and bone formationantiviral RIG-I signaling pathwayapical junction complex assemblyNOGDLSTMFFD-ribose 5-phosphateCEP164CYP2E1CoATIMM23BMSX2NUDT5BMP2PARGPARD3RGMBautophagyBMPR1BDNA Replication Initiationmicrotubule organization and/or maintenanceDLX5ERCC6GDF5SEC14L1GTPapoptosisAcyl-CoABMPR1AADP3-Oxoacyl-CoAATPDNM1LGDI1DRGXMCM3SLC18A3CHATMUSKH+MAGED1AcetylcholinebaseexcisionrepairCCDC167NEO1RAB8ABGLAPSMAD5NKX3-1pyruvateDNA damageresponseCNTRLLRRK2OFD1SMAD8OGDHLSMAD1Osteoblast differentiationHBS1LACAA2ABL1PARP1Non-homologous end joiningMCM2ALPLAPEX2CholinePhosphateERCC5SLC16A11Acetyl CoAstore neurotransmitters inside the vesiclesHomologous recombination(during the S/G2 phases)FBF1Cell cycle progressionCO2H2Onucleotide excision repairneuronal cell cycleprogressionneurite outgrowthC10orf53BMP signallingXRCC5JUNXRCC6cell proliferationPCNA7985235789569494neuronal adhesion88Non-homologous end joining8415nucleotide excision repairHomologous recombinationMCM5MCM4MCM6MCM7Acetyl CoACoAH2OPhosphateH+GDPDLDH+(R)-N6-(S8-succinyldihydrolipoyl)-L-lysine residue2-oxoglutarate(R)-N6-lipoyl-L-lysine residueATPdiphosphateADP-D-riboseH+PARP2PARP3PARP4H2OADP-D-ribose[(1''→2')-ADP-α-D-ribose](n)[(1''→2')-ADP-α-D-ribose](n−1)H+H+pyruvateAcetylcholineH+AcetylcholineH+7610410262575735172615206, 42, 53, 9733511778641798551933, 7617338, 651933102261762175433933363, 758710287621754551026633151427353378271061755807844Gene expressionProteasome assemblyMyelinationGeneric transcriptionPre-mRNA splicingSignaling pathwayActin polymerizationVPS35bradykinin and IP3-induced calcium releasePDE5ARAP2ARAP1AKIAA1033ASAH2PRKD2MYH4DDX17RAP1BCALRAGAP6RAB4ADDX5APOBEC1WASHC2Aceramide (CER)PSMG2ATPWASH1DDX58 (RIG-I)SSBdiacylglycerol (DAG)CHRNA5VIRMAFAM124ACAPZA2MYH3A1CFN-acylsphing-4-enineVPS26APSMG3L-seryl-[protein]ITPR1sphingosine/sphingosine-1-phosphate productionSphingomyelin synthesisSphing-4-enineSUPT16HCAPZA1ASAH2Receptor-mediated signal transductionRAB3APRKG1MRVI1ceramide phosphocholine (sphingomyelin, SM)MYH1ADPCCDC53CREB1phosphatidylcholine (PC)H2OO-phospho-L-seryl-[protein]FUSZNF646MYH7RAB5AASAH2BRAP2BRAB11AH+mRNA C to U editingKIAA0196SGMS1-AS1FKBP15SYNCRIPRAB8AFatty acid5454545454545454SGMS13515554444292929


Description

10q11.21q11.23 copy number variation (CNV) syndrome is a rare genetic disorder caused by a deletion or duplication of genetic material on chromosome 10.

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History

View all...
CompareRevisionActionTimeUserComment
128797view01:55, 22 February 2024EweitzStandardize case
127115view17:28, 3 August 2023FehrhartModified description
127114view17:26, 3 August 2023Fehrhartcorrections in progress
127113view16:25, 3 August 2023Fehrhartcorrection in progress
127112view14:56, 3 August 2023Fehrhartcorrection in progress
127111view14:40, 3 August 2023Fehrhartcorrection in progress
126540view08:38, 30 May 2023FehrhartGraphical update
126383view20:12, 25 April 2023AlexanderPicotrigger resync for homology mapping
126366view19:53, 24 April 2023AlexanderPicofixed empty bp:ID
126365view19:17, 24 April 2023AlexanderPicoModified description
126185view04:17, 14 April 2023EgonwTwo more pathways clickable
126178view05:43, 13 April 2023EgonwMade pathways clickable
126109view15:18, 6 April 2023FehrhartOntology Term : 'disease pathway' added !
126108view15:17, 6 April 2023FehrhartModified title
126047view17:34, 29 March 2023JulivanaModified title
126046view17:33, 29 March 2023JulivanaModified title
126045view17:27, 29 March 2023JulivanaNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
(R)-N6-(S8-succinyldihydrolipoyl)-L-lysine residueMetaboliteCHEBI:83120 (ChEBI)
(R)-N6-lipoyl-L-lysine residueMetaboliteCHEBI:83099 (ChEBI)
2-oxoglutarateMetaboliteCHEBI:16810 (ChEBI)
3-Oxoacyl-CoAMetaboliteCHEBI:15489 (ChEBI)
A1CFGeneProductENSG00000148584 (Ensembl)
ABL1GeneProductENSG00000097007 (Ensembl)
ACAA2GeneProductENSG00000167315 (Ensembl)
ADP-D-riboseMetaboliteCHEBI:57967 (ChEBI)
ADPMetaboliteCHEBI:456216 (ChEBI)
AGAP6GeneProductENSG00000204149 (Ensembl) Prey
ALPLGeneProductENSG00000162551 (Ensembl)
APEX2GeneProductENSG00000169188 (Ensembl)
APOBEC1GeneProductAPOBEC1 (HGNC)
ASAH2GeneProductASAH2 (HGNC)
ASAH2BGeneProductENSG00000204147 (Ensembl)
ASAH2GeneProductENSG00000188611 (Ensembl)
ATPMetaboliteCHEBI:30616 (ChEBI)
Acetyl CoAMetaboliteHMDB0247926 (HMDB)
AcetylcholineMetaboliteCHEBI:15355 (ChEBI)
Actin polymerizationPathwayWP51 (WikiPathways)
Acyl-CoAMetaboliteCHEBI:17984 (ChEBI)
BGLAPGeneProductENSG00000242252 (Ensembl) osteocalcin
BMP signallingPathwayWP2760 (WikiPathways)
BMP2GeneProductENSG00000125845 (Ensembl)
BMPR1AGeneProductENSG00000107779 (Ensembl)
BMPR1BGeneProductENSG00000138696 (Ensembl)
C10orf53GeneProductENSG00000178645 (Ensembl)
CALRGeneProductCALR (HGNC)
CAPZA1GeneProductCAPZA1 (HGNC)
CAPZA2GeneProductCAPZA2 (HGNC)
CCDC167GeneProductENSG00000198937 (Ensembl)
CCDC53GeneProductWASHC3 (HGNC)
CEP164GeneProductENSG00000110274 (Ensembl)
CHATGeneProductENSG00000070748 (Ensembl)
CHRNA5GeneProductCHRNA5 (HGNC) unclear interaction type
CNTRLGeneProductENSG00000119397 (Ensembl)
CO2MetaboliteCHEBI:16526 (ChEBI)
CREB1GeneProductCREB1 (HGNC)
CYP2E1GeneProductENSG00000130649 (Ensembl)
Cell cycle progressionPathwayWP179 (WikiPathways)
CholineMetaboliteCHEBI:15354 (ChEBI)
CoAMetaboliteCHEBI:57287 (ChEBI)
D-ribose 5-phosphateMetaboliteCHEBI:78346 (ChEBI)
DDX17GeneProductDDX17 (HGNC)
DDX58 (RIG-I)GeneProductDDX58 (HGNC) (unclear interaction type)
DDX5GeneProductDDX5 (HGNC)
DLDGeneProductENSG00000091140 (Ensembl)
DLSTGeneProductENSG00000119689 (Ensembl)
DLX5GeneProductENSG00000105880 (Ensembl)
DNA Replication InitiationPathwayWP4461 (WikiPathways)
DNA damage responsePathwayWP707 (WikiPathways)
DNM1LGeneProductENSG00000087470 (Ensembl)
DRGXGeneProductENSG00000165606 (Ensembl)
ERCC5GeneProductENSG00000134899 (Ensembl)
ERCC6GeneProductENSG00000225830 (Ensembl)
FAM124AGeneProductFAM124A (HGNC) Unclear interaction
FBF1GeneProductENSG00000188878 (Ensembl)
FKBP15GeneProductFKBP15 (HGNC)
FUSGeneProductFUS (HGNC)
Fatty acidMetaboliteCHEBI:28868 (ChEBI)
GDF5GeneProductENSG00000125965 (Ensembl)
GDI1GeneProductENSG00000203879 (Ensembl)
GDPMetaboliteCHEBI:58189 (ChEBI)
GTPMetaboliteCHEBI:37565 (ChEBI)
H+Metabolite15378 (ChEBI)
H+MetaboliteCHEBI:15378 (ChEBI)
H2OMetaboliteCHEBI:15377 (ChEBI)
HBS1LGeneProductENSG00000112339 (Ensembl)
Homologous

recombination

PathwayWP5096 (WikiPathways)
Homologous recombination (during the S/G2 phases)PathwayWP5096 (WikiPathways)
ITPR1GeneProductITPR1 (HGNC)
JUNGeneProductENSG00000177606 (Ensembl)
KIAA0196GeneProductWASHC5 (HGNC)
KIAA1033GeneProductWASHC4 (HGNC)
L-seryl-[protein]MetaboliteCHEBI:29999 (ChEBI)
LRRK2GeneProductENSG00000188906 (Ensembl)
MAGED1GeneProductENSG00000179222 (Ensembl)
MCM2GeneProductENSG00000073111 (Ensembl)
MCM3GeneProductENSG00000112118 (Ensembl)
MCM4GeneProductENSG00000104738 (Ensembl)
MCM5GeneProductENSG00000100297 (Ensembl)
MCM6GeneProductENSG00000076003 (Ensembl)
MCM7GeneProductENSG00000166508 (Ensembl)
MFFGeneProductENSG00000168958 (Ensembl)
MRVI1GeneProductIRAG1-AS1 (HGNC)
MSX2GeneProductENSG00000120149 (Ensembl)
MUSKGeneProductENSG00000030304 (Ensembl)
MYH1GeneProductMYH1 (HGNC)
MYH3GeneProductMYH3 (HGNC)
MYH4GeneProductMYH4 (HGNC)
MYH7GeneProductMYH7 (HGNC)
N-acylsphing-4-enineMetaboliteCHEBI:52639 (ChEBI)
NEO1GeneProductENSG00000067141 (Ensembl)
NKX3-1GeneProductENSG00000167034 (Ensembl)
NOGGeneProductENSG00000183691 (Ensembl)
NUDT5GeneProductENSG00000165609 (Ensembl)
Non-homologous end joiningPathwayWP438 (WikiPathways)
O-phospho-L-seryl-[protein]MetaboliteCHEBI:83421 (ChEBI)
OFD1GeneProductENSG00000046651 (Ensembl)
OGDHLGeneProductENSG00000197444 (Ensembl)
Osteoblast differentiationPathwayWP4787 (WikiPathways)
PARD3GeneProductENSG00000148498 (Ensembl)
PARGGeneProductENSG00000227345 (Ensembl)
PARP1GeneProductENSG00000143799 (Ensembl)
PARP2GeneProductENSG00000129484 (Ensembl)
PARP3GeneProductENSG00000041880 (Ensembl)
PARP4GeneProductENSG00000041880 (Ensembl)
PCNAGeneProductENSG00000132646 (Ensembl)
PDE5AGeneProductPDE5A (HGNC)
PRKD2GeneProductPRKD2 (HGNC) Bait
PRKG1GeneProductENSG00000185532 (Ensembl)
PSMG2GeneProductPSMG2 (HGNC)
PSMG3GeneProductPSMG3 (HGNC)
PhosphateMetaboliteCHEBI:43474 (ChEBI)
RAB11AGeneProductRAB11A (HGNC)
RAB3AGeneProductRAB3A (HGNC)
RAB4AGeneProductRAB4A (HGNC)
RAB5AGeneProductRAB5A (HGNC)
RAB8AGeneProductENSG00000167461 (Ensembl)
RAB8AGeneProductRAB8A (HGNC)
RAP1AGeneProductRAP1A (HGNC)
RAP1BGeneProductRAP1B (HGNC)
RAP2AGeneProductRAP2A (HGNC)
RAP2BGeneProductRAP2B (HGNC)
RGMBGeneProductENSG00000174136 (Ensembl)
Receptor-mediated signal transductionPathwayWP26 (WikiPathways)
SEC14L1GeneProductENSG00000129657 (Ensembl)
SGMS1-AS1GeneProductENSG00000226200 (Ensembl)
SGMS1GeneProductENSG00000198964 (Ensembl)
SLC16A11GeneProductENSG00000174326 (Ensembl)
SLC18A3GeneProductENSG00000187714 (Ensembl)
SMAD1GeneProductENSG00000170365 (Ensembl)
SMAD5GeneProductENSG00000113658 (Ensembl)
SMAD8
SSBGeneProductSSB (HGNC)
SUPT16HGeneProductSUPT16H (HGNC)
SYNCRIPGeneProductSYNCRIP (HGNC)
Sphing-4-enineMetaboliteCHEBI:57756 (ChEBI)
Sphingomyelin synthesisPathwayWP4725 (WikiPathways)
TIMM23BGeneProductENSG00000204152 (Ensembl)
VIRMAGeneProductVIRMA (HGNC)
VPS26AGeneProductVPS26A (HGNC)
VPS35GeneProductVPS35 (HGNC)
WASH1GeneProductWASHC1 (HGNC)
WASHC2AGeneProductENSG00000099290 (Ensembl) FAM21A (synonym)
XRCC5GeneProductENSG00000079246 (Ensembl)
XRCC6GeneProductENSG00000196419 (Ensembl)
ZNF646GeneProductZNF646 (HGNC)
[(1''→2')-ADP-α-D-ribose](n)MetaboliteCHEBI:16922 (ChEBI)
[(1''→2')-ADP-α-D-ribose](n−1)MetaboliteCHEBI:16923 (ChEBI)
apoptosisPathwayWP254 (WikiPathways)
autophagyPathwayWP4923 (WikiPathways)
base

excision

repair		PathwayWP4752 (WikiPathways)
bradykinin and IP3-induced calcium releasePathwayWP536 (WikiPathways)
cell proliferationPathwayWP179 (WikiPathways)
ceramide (CER)MetaboliteCHEBI:52639 (ChEBI)
ceramide phosphocholine (sphingomyelin, SM)MetaboliteCHEBI:17636 (ChEBI)
diacylglycerol (DAG)MetaboliteCHEBI:17815 (ChEBI)
diphosphateMetaboliteCHEBI:33019 (ChEBI)
mRNA C to U editingPathwayWP1862 (WikiPathways)
microtubule organization and/or maintenancePathwayWP2038 (WikiPathways)
neurite outgrowthPathwayWP1866 (WikiPathways)
neuronal cell cycle progressionPathwayWP179 (WikiPathways)
nucleotide

excision

repair		PathwayWP4753 (WikiPathways)
nucleotide excision repairPathwayWP4753 (WikiPathways)
phosphatidylcholine (PC)MetaboliteCHEBI:57643 (ChEBI)
pyruvateMetaboliteCHEBI:15361 (ChEBI)
sphingosine/sphingosine-1-phosphate productionPathwayWP4142 (WikiPathways)
store neurotransmitters inside the vesiclesPathwayWP1871 (WikiPathways)

Annotated Interactions

No annotated interactions

Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP5352"
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