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

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33181171132325, 4644113627, 75, 107814078, 93259918221188016289612245897110682441169890105711221221171181435659640chr10:49,390,199Unknown functionoxidativestressChondrogenic tissue differentiationVesicleInvolved inimmune systemUnknown functionchr10:51,058,79661, 84ERCC6ELK1BMPR1ASerotoninNon-homologous end joiningNeurite outgrowthCUL5Homologous recombination(during the S/G2 phases)ATF2Phosphatidylinositol 3,4-bisphosphate CHATBAZ1BRGMBSIRT6ERCC8BCL2Nucleotide excision repairVSTM4HSF1ELOACell proliferationBMPR1BC10orf53UVSSAITCHOGDHLSMAD9MIR4294CholineMYO1CB-WICH chromatin remodeling complexSMAD1BMP signalingSMARCA5SMARCB1FRMPD2CLOCKWDFY4DRGXMEN1CDH1SF3B1JUNDSIRT1CoADEKAcetyl CoASLC18A3NEO1C10orf128ApoptosisDLSTDDX21PCNARIF1AcetylcholineMYBBP1AARHGAP22ERCC5DNA damageresponseEIF4ENIF1NOGPARGSMAD5C10orf71MAPK8NLRP3CO2GDF5ARNTLHSF4LRRC18FAM170BBMP2KDM4DSMARCC24542103117DLDH+(R)-N6-(S8-succinyldihydrolipoyl)-L-lysine residue2-oxoglutarate(R)-N6-lipoyl-L-lysine residueH2OADP-D-ribose poly[(1''→2')-ADP-α-D-ribose]poly[(1''→2')-ADP-α-D-ribose]AcetylcholineUnknown functionUnknown functionUnknown functionUnknown functionUnknown functionERCC6Serotonin81Acetylcholine78, 93OGDHL


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. The exact genetic location chr10:49,390,199-51,058,796 (GRCh37) was taken from Kirov et al. 2014 and literature cited there.

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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
poly[(1''→2')-ADP-α-D-ribose]Metabolite142512 (ChEBI)
(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)
ARHGAP22GeneProductENSG00000128805 (Ensembl)
ARNTLGeneProductENSG00000133794 (Ensembl)
ATF2GeneProductENSG00000115966 (Ensembl)
Acetyl CoAMetaboliteHMDB0247926 (HMDB)
AcetylcholineMetaboliteCHEBI:15355 (ChEBI)
ApoptosisPathwayWP254 (WikiPathways)
B-WICH chromatin remodeling complexComplexCPX-1099 (Complex Portal)
BAZ1BGeneProductENSG00000009954 (Ensembl)
BCL2GeneProductENSG00000171791 (Ensembl)
BMP signalingPathwayWP2760 (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)
Cell proliferationPathwayWP179 (WikiPathways)
CholineMetaboliteCHEBI:15354 (ChEBI)
CoAMetaboliteCHEBI:57287 (ChEBI)
DDX21GeneProductENSG00000165732 (Ensembl)
DEKGeneProductENSG00000124795 (Ensembl)
DLDGeneProductENSG00000091140 (Ensembl)
DLSTGeneProductENSG00000119689 (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)
HSF1GeneProductENSG00000185122 (Ensembl)
HSF4GeneProductENSG00000102878 (Ensembl)
Homologous recombination (during the S/G2 phases)PathwayWP5096 (WikiPathways)
ITCHGeneProductENSG00000078747 (Ensembl)
JUNDGeneProductENSG00000130522 (Ensembl)
KDM4DGeneProductENSG00000186280 (Ensembl)
LRRC18GeneProductENSG00000165383 (Ensembl)
MAPK8GeneProductENSG00000107643 (Ensembl) JNK1
MEN1GeneProductENSG00000133895 (Ensembl)
MIR4294GeneProductENSG00000264800 (Ensembl)
MYBBP1AGeneProductENSG00000132382 (Ensembl)
MYO1CGeneProductENSG00000197879 (Ensembl)
NEO1GeneProductENSG00000067141 (Ensembl)
NLRP3GeneProductENSG00000162711 (Ensembl)
NOGGeneProductENSG00000183691 (Ensembl)
Neurite outgrowthPathwayWP1866 (WikiPathways)
Non-homologous end joiningPathwayWP438 (WikiPathways)
Nucleotide excision repairPathwayWP4753 (WikiPathways)
OGDHLGeneProductENSG00000197444 (Ensembl)
PARGGeneProductENSG00000227345 (Ensembl)
PCNAGeneProductENSG00000132646 (Ensembl)
Phosphatidylinositol 3,4-bisphosphate Metabolite643960 (PubChem-compound)
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)
poly[(1''→2')-ADP-α-D-ribose]MetaboliteCHEBI:16923 (ChEBI)

Annotated Interactions

SourceTargetTypeDatabase referenceComment
CHATmim-catalysis18821 (Rhea)
PARGmim-catalysis52216 (Rhea)
mim-conversion18821 (Rhea)
mim-conversion52216 (Rhea)
Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP5352"
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