3q29 copy number variation syndrome (WP4906)

Homo sapiens

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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.

Authors

Friederike Ehrhart , Egon Willighagen , Marvin Martens , Pierre Klemmer , Eric Weitz , and Aishwarya Iyer

Activity

last edited

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Cited In

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Organisms

Homo sapiens

Communities

Rare Diseases

Annotations

Disease Ontology

chromosomal duplication syndrome chromosomal disease chromosome 3q29 microdeletion syndrome chromosome 3q29 microduplication syndrome disease of mental health chromosomal deletion syndrome

Pathway Ontology

disease pathway

Participants
Query Drugst.One

Label Type Compact URI Comment
L-cysteine residueof a protein Metabolite chebi:29950
Choline phosphate(1−) Metabolite chebi:295975
S-palmitoyl-L-cysteine residueof a protein Metabolite chebi:74151
CoA Metabolite chebi:57287
O-phospho-L-serine(2−) residue Metabolite chebi:83421
Fe2+ Metabolite chebi:29033
FRAX1036 Metabolite pubchem.compound:71557891
Diphosphate(3−) Metabolite chebi:33019
Taurocholic acid Metabolite pubchem.compound:6675
CDP-choline(1−) Metabolite chebi:58779
palmitoyl-CoA(4−) Metabolite chebi:57379
L-serine residue Metabolite chebi:29999
Digoxin Metabolite pubchem.compound:2724385
Prostaglandin E2 Metabolite pubchem.compound:5280360
Estrone sulfate Metabolite pubchem.compound:3001028
CTP4− Metabolite chebi:37563
MYC GeneProduct ensembl:ENSG00000136997
UBXN7 GeneProduct ensembl:ENSG00000163960
RABL2B GeneProduct ensembl:ENSG00000079974
RN7SL738P GeneProduct ensembl:ENSG00000243339 pseudo
RNU6-646P GeneProduct ensembl:ENSG00000201441 pseudo gene
UBE2N GeneProduct ensembl:ENSG00000177889
PXN GeneProduct ensembl:ENSG00000089159
TGFB1 GeneProduct ensembl:ENSG00000105329
RNU6-42P GeneProduct ensembl:ENSG00000206892 pseudo gene
SDHAP1 GeneProduct ensembl:ENSG00000185485 pseudo gene
JUN GeneProduct ensembl:ENSG00000177606
FGFR1OP GeneProduct ensembl:ENSG00000213066
SMCO1 GeneProduct ensembl:ENSG00000214097
CEP19 GeneProduct ensembl:ENSG00000174007
DLG1 GeneProduct ensembl:ENSG00000075711
RNU6-910P GeneProduct ensembl:ENSG00000212146 pseudo gene
HFE GeneProduct ensembl:ENSG00000010704
RPS29P3 GeneProduct ensembl:ENSG00000225770 pseudo gene
MYCBP2 GeneProduct ensembl:ENSG00000005810
FBXW7 GeneProduct ensembl:ENSG00000109670
CEP350 GeneProduct ensembl:ENSG00000135837
PIGM GeneProduct ensembl:ENSG00000143315
SLC51A GeneProduct ensembl:ENSG00000163959 OSTA, OSTalpha
DYNC2H1 GeneProduct ensembl:ENSG00000187240
NCBP2 GeneProduct ensembl:ENSG00000114503
RNU4-89P GeneProduct ensembl:ENSG00000272359 pseudo gene
ADAM10 GeneProduct ensembl:ENSG00000137845
CASP7 GeneProduct ensembl:ENSG00000165806
NF2 GeneProduct ensembl:ENSG00000186575 merlin
NCBP1 GeneProduct ensembl:ENSG00000136937
RN7SL434P GeneProduct ensembl:ENSG00000241868 pseudo
SLC51B GeneProduct ensembl:ENSG00000186198 OSTB, OSTbeta
RNU7-18P GeneProduct ensembl:ENSG00000252174 pseudo gene
PIK3R3 GeneProduct ensembl:ENSG00000117461
ZDHHC19 GeneProduct ensembl:ENSG00000163958 Palmitoyltransferase
MAD2L1BP GeneProduct ensembl:ENSG00000124688
MELTF GeneProduct ensembl:ENSG00000163975
PCYT1A GeneProduct ensembl:ENSG00000161217
STAT5B GeneProduct ensembl:ENSG00000173757
WDR60 GeneProduct ensembl:ENSG00000126870
PIGZ GeneProduct ensembl:ENSG00000119227
FNDC8 GeneProduct ensembl:ENSG00000073598
TCTEX1D2 GeneProduct ensembl:ENSG00000213123
MCRS1 GeneProduct ensembl:ENSG00000187778
TM4SF19 GeneProduct ensembl:ENSG00000145107
TF GeneProduct ensembl:ENSG00000091513 Transferrin
DYNC2LI1 GeneProduct ensembl:ENSG00000138036
RPSAP69 GeneProduct ensembl:ENSG00000233487 pseudo gene
RNU2-11P GeneProduct ensembl:ENSG00000239122 pseudo gene
SIRT1 GeneProduct ensembl:ENSG00000096717
RNU6-1279P GeneProduct ensembl:ENSG00000206644 pseudo gene
SLC40A1 GeneProduct ensembl:ENSG00000138449 Ferroportin
BRINP1 GeneProduct ensembl:ENSG00000078725 DBC1
PAK2 GeneProduct ensembl:ENSG00000180370
STAT5A GeneProduct ensembl:ENSG00000126561
HAMP GeneProduct ensembl:ENSG00000105697
GRIA1 GeneProduct ensembl:ENSG00000155511 GluR1
RNF168 GeneProduct ensembl:ENSG00000163961
FBXO45 GeneProduct ensembl:ENSG00000174013
WDR53 GeneProduct ensembl:ENSG00000185798
HIF1A GeneProduct ensembl:ENSG00000100644
ZNF76 GeneProduct ensembl:ENSG00000065029
TFRC GeneProduct ensembl:ENSG00000072274
WDR34 GeneProduct ensembl:ENSG00000119333
SENP5 GeneProduct ensembl:ENSG00000119231
NRROS GeneProduct ensembl:ENSG00000174004 LRRC33
DYNLT1 GeneProduct ensembl:ENSG00000146425
PIGX GeneProduct ensembl:ENSG00000163964
DYNLT3 GeneProduct ensembl:ENSG00000165169
DYNLRB1 GeneProduct ensembl:ENSG00000125971
DYNLRB2 GeneProduct ensembl:ENSG00000168589
DYNLL1 GeneProduct ensembl:ENSG00000088986
DYNLL2 GeneProduct ensembl:ENSG00000264364
H2B GeneProduct ncbigene:8349
RNF8 GeneProduct ensembl:ENSG00000112130

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