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

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5, 53, 70, 71, 991471425223121024310239939826327290368452522660241488881641797388763112747342076712233477345941013050947339101524232519462175853947223983101553944850396498578633731022792511313288386105941025577hydroxylation of carbon-hydrogen bondsformation of correct projections from nociceptive sensory neurons to the dorsal hornactivated KRAS-mediated transcriptional activation of USP28 in colorectal cancer (CRC) cellsantiviral RIG-I signaling pathwayLabelsynthesis of ATP in the nucleusciliogenesisNo-Go Decay (NGD) pathwayunknown functionactivation-induced cell death of T cellsserotonin transportprogrammed necrosis executionapical junction complex assemblyproliferation and invasion activities of PC-3 prostate cancercartilage and bone formationchondrogenic tissue differentiationneuromuscular synapseformationformation of endocytic vesiclesmitochondrial and peroxisomal divisionneuronalplasticitynormal brain developmentTNF secretion by monocytesATPSMAD5PARP1ABL1OFD1baseexcisionrepairSMAD1D-ribose 5-phosphateHomologous recombination(during the S/G2 phases)neuronal cell cycleprogressionSLC18A3SMAD8SLC16A11BMPR1AMCM3Acyl-CoACCDC167EGFR endocytosisapoptosisH2ODLX5MAGED1NOGstore neurotransmitters inside the vesiclesXRCC6BMP signallingCO2C10orf53CHATMCM2microtubule organization and/or maintenanceNKX3-1DNM1LAPEX2XRCC5PhosphateDNA damageresponseLRRK2BMP2DLSTDRGXNUDT5CoAPCNAALPLMSX2H+ADPDNA Replication InitiationCYP2E1autophagynucleotide excision repairJUNCell cycle progressionMFFAcetyl CoA3-Oxoacyl-CoAHBS1LOGDHLPARGSEC14L1RAB8AcholineERCC6FBF1TIMM23BGDI1BGLAP(osteocalcin)Non-homologous end joiningOsteoblast differentiationCNTRLneurite outgrowthACAA2RGMBpyruvatecell proliferationGTPERCC5PARD3CEP164MUSKBMPR1BGDF5acetylcholineNEO15634957910048334747neuronal adhesion73Non-homologous end joining6nucleotide excision repair15Homologous 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+10410654261613162103154018, 49, 59, 6974826210166289356674, 104627496, 10766745410362262587497453, 71675467262583554917415297831741078416235651080Gene 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 acid58585858585858SGMS1583115358080686868


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)
Actin polymerizationPathwayWP51 (WikiPathways)
Acyl-CoAMetaboliteCHEBI:17984 (ChEBI)
BGLAP (osteocalcin)GeneProductENSG00000242252 (Ensembl)
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)
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)
EGFR endocytosis
ERCC5GeneProductENSG00000134899 (Ensembl)
ERCC6GeneProductENSG00000225830 (Ensembl)
FAM124AGeneProductFAM124A (HGNC) Unclear interaction
FBF1GeneProductENSG00000188878 (Ensembl)
FKBP15GeneProductFKBP15 (HGNC)
FUSGeneProductFUS (HGNC)
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)
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)
acetylcholineMetaboliteCHEBI:15355 (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)
cholineMetaboliteCHEBI:15354 (ChEBI)
diacylglycerol (DAG)MetaboliteCHEBI:17815 (ChEBI)
diphosphateMetaboliteCHEBI:33019 (ChEBI)
fatty acidMetaboliteCHEBI:28868 (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)
phosphateMetaboliteCHEBI:43474 (ChEBI)
phosphatidylcholine (PC)MetaboliteCHEBI:57643 (ChEBI)
pyruvateMetaboliteCHEBI:15361 (ChEBI)
sphing-4-enineMetaboliteCHEBI:57756 (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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