3q29 copy number variation syndrome (WP4906)

Homo sapiens

3q29 copy number variation (duplication or deletion) is a rare genetic condition that results in a variety of psychiatric problems. The genes on the red DNA strand represents the deleted, or duplicated, region. The downstream effects and interaction partners of the different genes are shown according to available knowledge. The breakpoints (chr3:195,788,299 – 197,033,296, GRCh37/hg19) are defined as given in Cox and Butler PMID: 25714563.
last edited


Friederike Ehrhart , Egon Willighagen , and Marvin Martens

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Homo sapiens


Rare Diseases


Disease Ontology: disease of mental health chromosome 3q29 microduplication syndrome chromosomal disease chromosome 3q29 microdeletion syndrome

Pathway Ontology: disease pathway


Label Type Compact Identifier Comment
Choline phosphate(1−) Metabolite chebi:295975
Prostaglandin E2 Metabolite pubchem.compound:5280360
Digoxin Metabolite pubchem.compound:2724385
CTP4− Metabolite chebi:37563
O-phospho-L-serine(2−) residue Metabolite chebi:83421
Fe2+ Metabolite chebi:29033
Diphosphate(3−) Metabolite chebi:33019
Fe2+ Metabolite chebi:29033
L-serine residue Metabolite chebi:29999
S-palmitoyl-L-cysteine residueof a protein Metabolite chebi:74151
FRAX1036 Metabolite pubchem.compound:71557891
Taurocholic acid Metabolite pubchem.compound:6675
L-cysteine residueof a protein Metabolite chebi:29950
palmitoyl-CoA(4−) Metabolite chebi:57379
CoA Metabolite chebi:57287
Estrone sulfate Metabolite pubchem.compound:3001028
CDP-choline(1−) Metabolite chebi:58779
SDHAP1 GeneProduct ensembl:ENSG00000185485 pseudo gene
RNU6-910P GeneProduct ensembl:ENSG00000212146 pseudo gene
RNU6-1279P GeneProduct ensembl:ENSG00000206644 pseudo gene
RN7SL434P GeneProduct ensembl:ENSG00000241868 pseudo
RN7SL738P GeneProduct ensembl:ENSG00000243339 pseudo
RPS29P3 GeneProduct ensembl:ENSG00000225770 pseudo gene
RNU6-42P GeneProduct ensembl:ENSG00000206892 pseudo gene
RPSAP69 GeneProduct ensembl:ENSG00000233487 pseudo gene
DLG1 GeneProduct ensembl:ENSG00000075711
STAT5A GeneProduct ensembl:ENSG00000126561
ZNF76 GeneProduct ensembl:ENSG00000065029
RNF8 GeneProduct ensembl:ENSG00000112130
MYC GeneProduct ensembl:ENSG00000136997
CEP350 GeneProduct ensembl:ENSG00000135837
FGFR1OP GeneProduct ensembl:ENSG00000213066
BRINP1 GeneProduct ensembl:ENSG00000078725 DBC1
MYCBP2 GeneProduct ensembl:ENSG00000005810
PAK2 GeneProduct ensembl:ENSG00000180370
MELTF GeneProduct ensembl:ENSG00000163975
FBXO45 GeneProduct ensembl:ENSG00000174013
TM4SF19 GeneProduct ensembl:ENSG00000145107
TGFB1 GeneProduct ensembl:ENSG00000105329
WDR60 GeneProduct ensembl:ENSG00000126870
PIK3R3 GeneProduct ensembl:ENSG00000117461
UBE2N GeneProduct ensembl:ENSG00000177889
CEP19 GeneProduct ensembl:ENSG00000174007
RNU2-11P GeneProduct ensembl:ENSG00000239122 pseudo gene
SMCO1 GeneProduct ensembl:ENSG00000214097
HAMP GeneProduct ensembl:ENSG00000105697
SLC51A GeneProduct ensembl:ENSG00000163959 OSTA, OSTalpha
STAT5B GeneProduct ensembl:ENSG00000173757
PXN GeneProduct ensembl:ENSG00000089159
TFRC GeneProduct ensembl:ENSG00000072274
RNU7-18P GeneProduct ensembl:ENSG00000252174 pseudo gene
GRIA1 GeneProduct ensembl:ENSG00000155511 GluR1
SLC51B GeneProduct ensembl:ENSG00000186198 OSTB, OSTbeta
WDR53 GeneProduct ensembl:ENSG00000185798
NCBP2 GeneProduct ensembl:ENSG00000114503
PIGX GeneProduct ensembl:ENSG00000163964
NRROS GeneProduct ensembl:ENSG00000174004 LRRC33
TCTEX1D2 GeneProduct ensembl:ENSG00000213123
SIRT1 GeneProduct ensembl:ENSG00000096717
DYNC2LI1 GeneProduct ensembl:ENSG00000138036
SLC40A1 GeneProduct ensembl:ENSG00000138449 Ferroportin
FNDC8 GeneProduct ensembl:ENSG00000073598
MCRS1 GeneProduct ensembl:ENSG00000187778
ADAM10 GeneProduct ensembl:ENSG00000137845
JUN GeneProduct ensembl:ENSG00000177606
PIGZ GeneProduct ensembl:ENSG00000119227
RNF168 GeneProduct ensembl:ENSG00000163961
NF2 GeneProduct ensembl:ENSG00000186575 merlin
HFE GeneProduct ensembl:ENSG00000010704
TF GeneProduct ensembl:ENSG00000091513 Transferrin
FBXW7 GeneProduct ensembl:ENSG00000109670
RNU6-646P GeneProduct ensembl:ENSG00000201441 pseudo gene
SENP5 GeneProduct ensembl:ENSG00000119231
MAD2L1BP GeneProduct ensembl:ENSG00000124688
ZDHHC19 GeneProduct ensembl:ENSG00000163958 Palmitoyltransferase
RNU4-89P GeneProduct ensembl:ENSG00000272359 pseudo gene
CASP7 GeneProduct ensembl:ENSG00000165806
PIGM GeneProduct ensembl:ENSG00000143315
UBXN7 GeneProduct ensembl:ENSG00000163960
PCYT1A GeneProduct ensembl:ENSG00000161217
NCBP1 GeneProduct ensembl:ENSG00000136937
DYNC2H1 GeneProduct ensembl:ENSG00000187240
HIF1A GeneProduct ensembl:ENSG00000100644
RABL2B GeneProduct ensembl:ENSG00000079974
SLC51A GeneProduct ensembl:ENSG00000163959 OSTA, OSTalpha
WDR34 GeneProduct ensembl:ENSG00000119333
TCTEX1D2 GeneProduct ensembl:ENSG00000213123
DYNLT1 GeneProduct ensembl:ENSG00000146425
TCTEX1D2 GeneProduct ensembl:ENSG00000213123
DYNLT3 GeneProduct ensembl:ENSG00000165169
DYNLRB1 GeneProduct ensembl:ENSG00000125971
DYNLRB2 GeneProduct ensembl:ENSG00000168589
DYNLL1 GeneProduct ensembl:ENSG00000088986
DYNLL2 GeneProduct ensembl:ENSG00000264364
DYNC2LI1 GeneProduct ensembl:ENSG00000138036
DYNC2H1 GeneProduct ensembl:ENSG00000187240
AKT1 GeneProduct ensembl:ENSG00000142208
HIF1A GeneProduct ensembl:ENSG00000100644
RNF168 GeneProduct ensembl:ENSG00000163961
FBXO45 GeneProduct ensembl:ENSG00000174013
PIGX GeneProduct ensembl:ENSG00000163964
STAT5A GeneProduct ensembl:ENSG00000126561
MYC GeneProduct ensembl:ENSG00000136997
STAT5B GeneProduct ensembl:ENSG00000173757
PXN GeneProduct ensembl:ENSG00000089159
JUN GeneProduct ensembl:ENSG00000177606
NF2 GeneProduct ensembl:ENSG00000186575 merlin
CASP7 GeneProduct ensembl:ENSG00000165806
BRINP1 GeneProduct ensembl:ENSG00000078725 DBC1
BRINP1 GeneProduct ensembl:ENSG00000078725 DBC1
NCBP2 GeneProduct ensembl:ENSG00000114503


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