10q11.21q11.23 copy number variation syndrome (WP5352)

Homo sapiens

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.


Julivana , Friederike Ehrhart , Egon Willighagen , Alex Pico , and Eric Weitz


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Homo sapiens


Diseases Rare Diseases


Pathway Ontology

disease pathway


Label Type Compact URI Comment
Acetylcholine Metabolite chebi:15355
Phosphatidylinositol 3,4-bisphosphate Metabolite pubchem.compound:643960
CoA Metabolite chebi:57287
Acetyl CoA Metabolite hmdb:HMDB0247926
CO2 Metabolite chebi:16526
Choline Metabolite chebi:15354
Serotonin Metabolite chebi:350546
H+ Metabolite chebi:15378
(R)-N6-(S8-succinyldihydrolipoyl)-L-lysine residue Metabolite chebi:83120
2-oxoglutarate Metabolite chebi:16810
(R)-N6-lipoyl-L-lysine residue Metabolite chebi:83099
H2O Metabolite chebi:15377
ADP-D-ribose Metabolite chebi:57967
poly[(1''→2')-ADP-α-D-ribose] Metabolite chebi:142512
poly[(1''→2')-ADP-α-D-ribose] Metabolite chebi:16923
Acetylcholine Metabolite chebi:15355
Serotonin Metabolite chebi:350546
Acetylcholine Metabolite chebi:15355
MIR4294 GeneProduct ensembl:ENSG00000264800
UVSSA GeneProduct ensembl:ENSG00000163945 KIAA1530
FAM170B GeneProduct ensembl:ENSG00000172538
ITCH GeneProduct ensembl:ENSG00000078747
SIRT1 GeneProduct ensembl:ENSG00000096717
NOG GeneProduct ensembl:ENSG00000183691
HSF1 GeneProduct ensembl:ENSG00000185122
MEN1 GeneProduct ensembl:ENSG00000133895
BCL2 GeneProduct ensembl:ENSG00000171791
SMAD1 GeneProduct ensembl:ENSG00000170365
SMARCA5 GeneProduct ensembl:ENSG00000153147
LRRC18 GeneProduct ensembl:ENSG00000165383
MYO1C GeneProduct ensembl:ENSG00000197879
MAPK8 GeneProduct ensembl:ENSG00000107643 JNK1
BAZ1B GeneProduct ensembl:ENSG00000009954
RGMB GeneProduct ensembl:ENSG00000174136
KDM4D GeneProduct ensembl:ENSG00000186280
RIF1 GeneProduct ensembl:ENSG00000080345
GDF5 GeneProduct ensembl:ENSG00000125965
NEO1 GeneProduct ensembl:ENSG00000067141
MYBBP1A GeneProduct ensembl:ENSG00000132382
BMPR1A GeneProduct ensembl:ENSG00000107779
PCNA GeneProduct ensembl:ENSG00000132646
SF3B1 GeneProduct ensembl:ENSG00000115524
EIF4ENIF1 GeneProduct ensembl:ENSG00000184708
ARHGAP22 GeneProduct ensembl:ENSG00000128805
SMARCC2 GeneProduct ensembl:ENSG00000139613
DDX21 GeneProduct ensembl:ENSG00000165732
C10orf53 GeneProduct ensembl:ENSG00000178645
WDFY4 GeneProduct ensembl:ENSG00000128815
OGDHL GeneProduct ensembl:ENSG00000197444
CLOCK GeneProduct ensembl:ENSG00000134852
NLRP3 GeneProduct ensembl:ENSG00000162711
PARG GeneProduct ensembl:ENSG00000227345
C10orf128 GeneProduct ensembl:ENSG00000204161 TMEM273
ERCC5 GeneProduct ensembl:ENSG00000134899
C10orf71 GeneProduct ensembl:ENSG00000177354 CEFIP
ARNTL GeneProduct ensembl:ENSG00000133794
DEK GeneProduct ensembl:ENSG00000124795
ERCC6 GeneProduct ensembl:ENSG00000225830
SMAD5 GeneProduct ensembl:ENSG00000113658
ELOA GeneProduct ensembl:ENSG00000011007
ERCC8 GeneProduct ensembl:ENSG00000049167
JUND GeneProduct ensembl:ENSG00000130522
DLST GeneProduct ensembl:ENSG00000119689
CHAT GeneProduct ensembl:ENSG00000070748
SLC18A3 GeneProduct ensembl:ENSG00000187714
SIRT6 GeneProduct ensembl:ENSG00000077463
CDH1 GeneProduct ensembl:ENSG00000039068
CUL5 GeneProduct ensembl:ENSG00000166266
VSTM4 GeneProduct ensembl:ENSG00000165633
HSF4 GeneProduct ensembl:ENSG00000102878
FRMPD2 GeneProduct ensembl:ENSG00000170324
BMP2 GeneProduct ensembl:ENSG00000125845
BMPR1B GeneProduct ensembl:ENSG00000138696
DRGX GeneProduct ensembl:ENSG00000165606
SMAD9 GeneProduct ensembl:ENSG00000120693
SMARCB1 GeneProduct ensembl:ENSG00000099956
ELK1 GeneProduct ensembl:ENSG00000126767
ATF2 GeneProduct ensembl:ENSG00000115966
DLD GeneProduct ensembl:ENSG00000091140
ERCC6 GeneProduct ensembl:ENSG00000225830
OGDHL GeneProduct ensembl:ENSG00000197444


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