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

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5, 53, 70, 71, 993950468623134397872621942794643928341021512494471017336233909898447831053985302560529242848139395275201011274757101931173147655726310237834512266452175081382213884744396381021022219325577338752proliferation and invasion activities of PC-3 prostate cancerapical junction complex assemblycartilage and bone formationhydroxylation of carbon-hydrogen bondsmitochondrial and peroxisomal divisionformation of correct projections from nociceptive sensory neurons to the dorsal hornneuronalplasticityciliogenesisunknown functionLabelsynthesis of ATP in the nucleusTNF secretion by monocytesneuromuscular synapseformationformation of endocytic vesiclesantiviral RIG-I signaling pathwayNo-Go Decay (NGD) pathwayactivated KRAS-mediated transcriptional activation of USP28 in colorectal cancer (CRC) cellsserotonin transportnormal brain developmentprogrammed necrosis executionchondrogenic tissue differentiationactivation-induced cell death of T cellsPARP1XRCC5cell proliferationH+Non-homologous end joiningJUNOFD1pyruvateSLC18A3RGMBCCDC167Cell cycle progressionADPXRCC6LRRK2store neurotransmitters inside the vesicles3-Oxoacyl-CoADLX5BGLAP(osteocalcin)cholineALPLNUDT5MFFDNM1LPCNAOsteoblast differentiationGDF5microtubule organization and/or maintenanceHomologous recombination(during the S/G2 phases)Acyl-CoASLC16A11baseexcisionrepairautophagyDLSTCNTRLEGFR endocytosisERCC5neuronal cell cycleprogressionBMPR1BCHATCYP2E1CO2CEP164PARD3MUSKBMP2neurite outgrowthGDI1ERCC6SMAD8GTPSEC14L1OGDHLACAA2nucleotide excision repairRAB8AMSX2NKX3-1DNA damageresponseacetylcholineSMAD1BMP signallingPhosphateSMAD5TIMM23BH2OPARGC10orf53CoAMCM2APEX2D-ribose 5-phosphateDRGXMAGED1FBF1NOGMCM3ABL1apoptosisAcetyl CoADNA Replication InitiationHBS1LNEO1ATPBMPR1A5634957910048334747neuronal adhesion73Non-homologous end joining615nucleotide 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+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


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

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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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