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

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711217052, 79, 10631234411291911202045781176611124436161115641538105706119110433243373414701181229191126, 1278491786811210444919984117703412510911026476733119chr10:49,390,199chondrogenic tissue differentiationunknown functionVesicleinvolved inimmune systemoxidativestressunknown functionchr10:51,058,796Labelsynthesis of ATP in the nucleus41, 72ERCC5BGLAPBMP signallingDDX21SMAD1CDH1SF3B1LRRC18B-WICH chromatin remodelling complexNOGITCHBAZ1BOsteoblast differentiationAcetylcholineSMAD9NEO1ARHGAP22MAPK8PARP1HSF1RIF1DEKPCNAMAGED1ELK1BCL2XRCC6NUDT5JUNDSerotoninDNA damageresponseCoANLRP3SMARCA5BMPR1AC10orf53ARNTLAcetyl CoAapoptosisFRMPD2nucleotide excision repairHSF4D-ribose 5-phosphateMIR4294MSX2ATF2MYBBP1ANon-homologous end joiningCUL5CHATALPLcell proliferationUVSSAneuronal cell cycleprogressionOGDHLMYO1CSIRT1HBS1LBMP2neurite outgrowthFAM170BC10orf128NKX3-1ELOACYP2E1DRGXWDFY4GDF5SIRT6DLSTCholineBMPR1BSLC18A3ERCC6ERCC8RGMBC10orf71APEX2XRCC5PARGHomologous recombination(during the S/G2 phases)EIF4ENIF1DLX5MEN1SMAD5VSTM4SMARCB1CO2SMARCC2phosphatidylinositol 3,4-bisphosphate CLOCK7183421162147070110Non-homologous end joiningDLDH+(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)Acetylcholineunknown functionunknown functionunknown functionunknown functionunknown functionERCC6Serotonin123Acetylcholine126, 127OGDHL


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)
ADP-D-riboseMetaboliteCHEBI:57967 (ChEBI)
ALPLGeneProductENSG00000162551 (Ensembl)
APEX2GeneProductENSG00000169188 (Ensembl)
ARHGAP22GeneProductENSG00000128805 (Ensembl)
ARNTLGeneProductENSG00000133794 (Ensembl)
ATF2GeneProductENSG00000115966 (Ensembl)
ATPMetaboliteCHEBI:30616 (ChEBI)
Acetyl CoAMetaboliteHMDB0247926 (HMDB)
AcetylcholineMetaboliteCHEBI:15355 (ChEBI)
B-WICH chromatin remodelling complexComplexCPX-1099
BAZ1BGeneProductENSG00000009954 (Ensembl)
BCL2GeneProductENSG00000171791 (Ensembl)
BGLAPGeneProductENSG00000242252 (Ensembl) osteocalcin
BMP signallingPathwayWP2760 (WikiPathways)
BMP2GeneProductENSG00000125845 (Ensembl)
BMPR1AGeneProductENSG00000107779 (Ensembl)
BMPR1BGeneProductENSG00000138696 (Ensembl)
C10orf128GeneProductENSG00000204161 (Ensembl) TMEM273
C10orf53GeneProductENSG00000178645 (Ensembl)
C10orf71GeneProductENSG00000177354 (Ensembl) CEFIP
CDH1GeneProductENSG00000039068 (Ensembl)
CHATGeneProductENSG00000070748 (Ensembl)
CLOCKGeneProductENSG00000134852 (Ensembl)
CO2MetaboliteCHEBI:16526 (ChEBI)
CUL5GeneProductENSG00000166266 (Ensembl)
CYP2E1GeneProductENSG00000130649 (Ensembl)
CholineMetaboliteCHEBI:15354 (ChEBI)
CoAMetaboliteCHEBI:57287 (ChEBI)
D-ribose 5-phosphateMetaboliteCHEBI:78346 (ChEBI)
DDX21GeneProductENSG00000165732 (Ensembl)
DEKGeneProductENSG00000124795 (Ensembl)
DLDGeneProductENSG00000091140 (Ensembl)
DLSTGeneProductENSG00000119689 (Ensembl)
DLX5GeneProductENSG00000105880 (Ensembl)
DNA damage responsePathwayWP707 (WikiPathways)
DRGXGeneProductENSG00000165606 (Ensembl)
EIF4ENIF1GeneProductENSG00000184708 (Ensembl)
ELK1GeneProductENSG00000126767 (Ensembl)
ELOAGeneProductENSG00000011007 (Ensembl)
ERCC5GeneProductENSG00000134899 (Ensembl)
ERCC6GeneProductENSG00000225830 (Ensembl)
ERCC8GeneProductENSG00000049167 (Ensembl)
FAM170BGeneProductENSG00000172538 (Ensembl)
FRMPD2GeneProductENSG00000170324 (Ensembl)
GDF5GeneProductENSG00000125965 (Ensembl)
H+MetaboliteCHEBI:15378 (ChEBI)
H2OMetaboliteCHEBI:15377 (ChEBI)
HBS1LGeneProductENSG00000112339 (Ensembl)
HSF1GeneProductENSG00000185122 (Ensembl)
HSF4GeneProductENSG00000102878 (Ensembl)
Homologous recombination (during the S/G2 phases)PathwayWP5096 (WikiPathways)
ITCHGeneProductENSG00000078747 (Ensembl)
JUNDGeneProductENSG00000130522 (Ensembl)
LRRC18GeneProductENSG00000165383 (Ensembl)
MAGED1GeneProductENSG00000179222 (Ensembl)
MAPK8GeneProductENSG00000107643 (Ensembl) JNK1
MEN1GeneProductENSG00000133895 (Ensembl)
MIR4294GeneProductENSG00000264800 (Ensembl)
MSX2GeneProductENSG00000120149 (Ensembl)
MYBBP1AGeneProductENSG00000132382 (Ensembl)
MYO1CGeneProductENSG00000197879 (Ensembl)
NEO1GeneProductENSG00000067141 (Ensembl)
NKX3-1GeneProductENSG00000167034 (Ensembl)
NLRP3GeneProductENSG00000162711 (Ensembl)
NOGGeneProductENSG00000183691 (Ensembl)
NUDT5GeneProductENSG00000165609 (Ensembl)
Non-homologous end joiningPathwayWP438 (WikiPathways)
OGDHLGeneProductENSG00000197444 (Ensembl)
Osteoblast differentiationPathwayWP4787 (WikiPathways)
PARGGeneProductENSG00000227345 (Ensembl)
PARP1GeneProductENSG00000143799 (Ensembl)
PARP2GeneProductENSG00000129484 (Ensembl)
PARP3GeneProductENSG00000041880 (Ensembl)
PARP4GeneProductENSG00000041880 (Ensembl)
PCNAGeneProductENSG00000132646 (Ensembl)
RGMBGeneProductENSG00000174136 (Ensembl)
RIF1GeneProductENSG00000080345 (Ensembl)
SF3B1GeneProductENSG00000115524 (Ensembl)
SIRT1GeneProductENSG00000096717 (Ensembl)
SIRT6GeneProductENSG00000077463 (Ensembl)
SLC18A3GeneProductENSG00000187714 (Ensembl)
SMAD1GeneProductENSG00000170365 (Ensembl)
SMAD5GeneProductENSG00000113658 (Ensembl)
SMAD9GeneProductENSG00000120693 (Ensembl)
SMARCA5GeneProductENSG00000153147 (Ensembl)
SMARCB1GeneProductENSG00000099956 (Ensembl)
SMARCC2GeneProductENSG00000139613 (Ensembl)
SerotoninMetaboliteCHEBI:350546 (ChEBI)
UVSSAGeneProductENSG00000163945 (Ensembl) KIAA1530
VSTM4GeneProductENSG00000165633 (Ensembl)
WDFY4GeneProductENSG00000128815 (Ensembl)
XRCC5GeneProductENSG00000079246 (Ensembl)
XRCC6GeneProductENSG00000196419 (Ensembl)
[(1''→2')-ADP-α-D-ribose](n)MetaboliteCHEBI:16922 (ChEBI)
[(1''→2')-ADP-α-D-ribose](n−1)MetaboliteCHEBI:16923 (ChEBI)
apoptosisPathwayWP254 (WikiPathways)
cell proliferationPathwayWP179 (WikiPathways)
diphosphateMetaboliteCHEBI:33019 (ChEBI)
neurite outgrowthPathwayWP1866 (WikiPathways)
neuronal cell cycle progressionPathwayWP179 (WikiPathways)
nucleotide excision repairPathwayWP4753 (WikiPathways)
phosphatidylinositol 3,4-bisphosphate Metabolite643960 (PubChem-compound)

Annotated Interactions

SourceTargetTypeDatabase referenceComment
CHATmim-catalysis18821 (Rhea)
mim-conversion18821 (Rhea)
Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP5352"
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