3q29 copy number variation syndrome (Homo sapiens)

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404512403984431, 3711, 1727, 2938, 4436, 39352013463921, 34437191016471, 2567151432311, 17125, 23184125, 6, 23393548229423073326, 288specific and selectivestimulation of TGFb1 inmicrogliaRegulation of Iron uptakephosphorylated stateunknown functiontranscriptionalsilencingcentriole organizationphosphorylationtargetslittle information available:upregulated in regulatory macrophages during Leishmania infectionProposed model of IFT dynein compositionBile acid transportand uptakaPalmitoylationIron uptakeControls phosphatidylcholine synthesiscatalysesphoshporylationon tyrosineRNA geneChromosome 3:195,788,299Glycosylphosphatidylinositol-mannosyltransferase 124RPSAP69SENP5Post-translational modification: synthesis of GPI-anchored proteinsTCTEX1D2BRINP1FBXO45PCYT1APXNhsa-mir-4797Diphosphate(3−)RNU6-42PNF2CASP7Genes related to primarycilium developmentpalmitoyl-CoA(4−)ATM signaling networkSLC51AProstaglandin E2RNU4-89PNCBP2MIR6829RABL2BLINC01983Taurocholic acidAKT1HAMPPIGMMELTF-AS1RNU2-11PZDHHC19UBE2NCDP-choline(1−)MCRS1RN7SL434PKIF3AP1WDR60Nuclear cap-binding complexDigoxinNCBP1FYNCEP350HIF1AFBXW7UBXN7-AS1Choline phosphate(1−)DLG1TFSTAT5BGRIA1SLC51BMYCBP2DYNC2H1TNK2-AS1MUC4JUNADAM10RN7SL738PLINC01063SMCO1Estrone sulfateSIRT1 O-phospho-L-serine(2−) residueL-cysteine residueof a proteinPIK3R3TFRCApoptosis CTP4−RNU6-646PTM4SF19-AS1CoAS-palmitoyl-L-cysteine residueof a proteinFGFR1OPMYCPIGZRNU7-18PFe2+DYNC2LI1ERBB2TM4SF19-TCTEX1D2DLG1-AS1NCBP2AS2RPS29P3ARPAK2RNU6-1279PTGFB1DNA Double Strand Break ResponseSLC40A1RNF168NCBP2-AS1TNK2CEP19STAT5AWWOXZNF76MAD2L1BPMELTFGRB2Fe2+L-serine residueFRAX1036RNF8PIGXNRROSHFESDHAP1ATMWDR53RNU6-910PTM4SF19LINC00885UBXN7uH2BFNDC8Chromosome 3:197,033,296AKT1ARWWOXFYNGRB2pseudo gene3932SLC51A141414414141WDR34TCTEX1D2DYNLT1TCTEX1D2DYNLT3DYNLRB1DYNLRB2DYNLL1DYNLL2DYNC2LI1DYNC2H1AKT1HIF1AUUubiquitinated stateRNF168FBXO45PIGXSTAT5AMYCSTAT5BPXNJUNNF2CASP7BRINP1SBRINP1SSUMOylated stateNCBP2


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.

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110951view16:49, 23 June 2020EgonwReplaced a secondary ChEBI identifier
110939view09:29, 23 June 2020Fehrhartwork in progress
110938view08:44, 23 June 2020Fehrhartwork in progress SENP5
110937view08:13, 23 June 2020Fehrhartwork in progress - PAK2
110927view13:42, 22 June 2020Fehrhartwork in progress - PIGX, CEP19
110907view13:40, 19 June 2020Fehrhartwork in progress NRROS
110899view12:04, 18 June 2020Fehrhartwork in progress - FBXO45
110898view11:50, 18 June 2020Fehrhartwork in progress RNF168 and SMCO1
110896view11:04, 18 June 2020Fehrhartwork in progress
110586view11:15, 19 May 2020Fehrhartwork in progress
110580view10:46, 19 May 2020Fehrhartwork in progress
110578view10:18, 19 May 2020Fehrhartwork in progress
110317view22:18, 3 May 2020Marvin M2Ontology Term : 'chromosomal disease' added !
110316view22:17, 3 May 2020Marvin M2Ontology Term : 'chromosome 3q29 microduplication syndrome' added !
110315view22:17, 3 May 2020Marvin M2Ontology Term : 'chromosome 3q29 microdeletion syndrome' added !
110304view06:42, 3 May 2020EgonwReplaced a secondary ChEBI identifiers with a primary identifier.
110269view12:44, 1 May 2020Fehrhartadded reference
110268view12:26, 1 May 2020Fehrhartwork in progress
110251view10:40, 30 April 2020Fehrhartwork in progress
110250view10:28, 30 April 2020Fehrhartwork in progress (TFRC)
110176view09:19, 23 April 2020Fehrhartwork in progress
110161view08:54, 22 April 2020FehrhartOntology Term : 'disease of mental health' added !
110160view08:54, 22 April 2020FehrhartOntology Term : 'disease pathway' added !
110159view08:53, 22 April 2020FehrhartModified description
110158view08:49, 22 April 2020FehrhartWork in progress
110147view06:47, 21 April 2020FehrhartNew pathway

External references


View all...
NameTypeDatabase referenceComment
O-phospho-L-serine(2−) residueMetabolite83421 (ChEBI)
ADAM10GeneProductENSG00000137845 (Ensembl)
AKT1GeneProductENSG00000142208 (Ensembl)
ARGeneProductENSG00000169083 (Ensembl) NR3C4
ATM signaling networkPathwayWP3878 (WikiPathways)
ATMGeneProductENSG00000149311 (Ensembl)
Apoptosis PathwayWP254 (WikiPathways)
BRINP1GeneProductENSG00000078725 (Ensembl) DBC1
CASP7GeneProductENSG00000165806 (Ensembl)
CDP-choline(1−)Metabolite58779 (ChEBI)
CEP19GeneProductENSG00000174007 (Ensembl)
CEP350GeneProductENSG00000135837 (Ensembl)
CTP4−Metabolite37563 (ChEBI)
Choline phosphate(1−)Metabolite295975 (ChEBI)
CoAMetabolite57287 (ChEBI)
DLG1-AS1RnaENSG00000227375 (Ensembl) ncRNA
DLG1GeneProductENSG00000075711 (Ensembl)
DNA Double Strand Break ResponsePathwayWP3543 (WikiPathways)
DYNC2H1GeneProductENSG00000187240 (Ensembl)
DYNC2LI1GeneProductENSG00000138036 (Ensembl)
DYNLL1GeneProductENSG00000088986 (Ensembl)
DYNLL2GeneProductENSG00000264364 (Ensembl)
DYNLRB1GeneProductENSG00000125971 (Ensembl)
DYNLRB2GeneProductENSG00000168589 (Ensembl)
DYNLT1GeneProductENSG00000146425 (Ensembl)
DYNLT3GeneProductENSG00000165169 (Ensembl)
DigoxinMetabolite2724385 (PubChem-compound)
Diphosphate(3−)Metabolite33019 (ChEBI)
ERBB2GeneProductENSG00000141736 (Ensembl)
Estrone sulfateMetabolite3001028 (PubChem-compound)
FBXO45GeneProductENSG00000174013 (Ensembl)
FBXW7GeneProductENSG00000109670 (Ensembl)
FGFR1OPGeneProductENSG00000213066 (Ensembl)
FNDC8GeneProductENSG00000073598 (Ensembl)
FRAX1036Metabolite71557891 (PubChem-compound)
FYNGeneProductENSG00000010810 (Ensembl)
Fe2+MetaboliteCHEBI:29033 (ChEBI)
GRB2GeneProductENSG00000177885 (Ensembl)
GRIA1GeneProductENSG00000155511 (Ensembl) GluR1
Genes related to primary cilium developmentPathwayWP4536 (WikiPathways)
HAMPGeneProductENSG00000105697 (Ensembl)
HFEGeneProductENSG00000010704 (Ensembl)
HIF1AGeneProductENSG00000100644 (Ensembl)
JUNGeneProductENSG00000177606 (Ensembl)
KIF3AP1GeneProductENSG00000235836 (Ensembl) pseudo gene
L-cysteine residue of a proteinMetabolite29950 (ChEBI)
L-serine residueMetaboliteCHEBI:29999 (ChEBI)
LINC00885RnaENSG00000224652 (Ensembl) ncRNA
LINC01063RnaENSG00000232065 (Ensembl) ncRNA
LINC01983RnaENSG00000223783 (Ensembl) ncRNA
MAD2L1BPGeneProductENSG00000124688 (Ensembl)
MCRS1GeneProductENSG00000187778 (Ensembl)
MELTF-AS1RnaENSG00000228109 (Ensembl) ncRNA
MELTFGeneProductENSG00000163975 (Ensembl)
MIR6829RnaENSG00000276489 (Ensembl)
MUC4GeneProductENSG00000145113 (Ensembl)
MYCBP2GeneProductENSG00000005810 (Ensembl)
MYCGeneProductENSG00000136997 (Ensembl)
NCBP1GeneProductENSG00000136937 (Ensembl)
NCBP2-AS1RnaENSG00000225578 (Ensembl) ncRNA
NCBP2AS2RnaENSG00000270170 (Ensembl) ncRNA
NCBP2GeneProductENSG00000114503 (Ensembl)
NF2GeneProductENSG00000186575 (Ensembl) merlin
NRROSGeneProductENSG00000174004 (Ensembl) LRRC33
Nuclear cap- binding complexComplexCPX-1427 (EMBL) Complex Database (EMBL)
PAK2GeneProductENSG00000180370 (Ensembl)
PCYT1AGeneProductENSG00000161217 (Ensembl)
PIGMGeneProductENSG00000143315 (Ensembl)
PIGXGeneProductENSG00000163964 (Ensembl)
PIGZGeneProductENSG00000119227 (Ensembl)
PIK3R3GeneProductENSG00000117461 (Ensembl)
PXNGeneProductENSG00000089159 (Ensembl)
Post-translational modification: synthesis of GPI-anchored proteinsPathwayWP1887 (WikiPathways)
Prostaglandin E2Metabolite5280360 (PubChem-compound)
RABL2BGeneProductENSG00000079974 (Ensembl)
RN7SL434PGeneProductENSG00000241868 (Ensembl) pseudo
RN7SL738PGeneProductENSG00000243339 (Ensembl) pseudo
RNF168GeneProductENSG00000163961 (Ensembl)
RNF8GeneProductENSG00000112130 (Ensembl)
RNU2-11PGeneProductENSG00000239122 (Ensembl) pseudo gene
RNU4-89PGeneProductENSG00000272359 (Ensembl) pseudo gene
RNU6-1279PGeneProductENSG00000206644 (Ensembl) pseudo gene
RNU6-42PGeneProductENSG00000206892 (Ensembl) pseudo gene
RNU6-646PGeneProductENSG00000201441 (Ensembl) pseudo gene
RNU6-910PGeneProductENSG00000212146 (Ensembl) pseudo gene
RNU7-18PGeneProductENSG00000252174 (Ensembl) pseudo gene
RPS29P3GeneProductENSG00000225770 (Ensembl) pseudo gene
RPSAP69GeneProductENSG00000233487 (Ensembl) pseudo gene
S-palmitoyl-L-cysteine residue of a proteinMetabolite74151 (ChEBI)
SDHAP1GeneProductENSG00000185485 (Ensembl) pseudo gene
SENP5GeneProductENSG00000119231 (Ensembl)
SIRT1GeneProductENSG00000096717 (Ensembl)
SLC40A1GeneProductENSG00000138449 (Ensembl) Ferroportin
SLC51AGeneProductENSG00000163959 (Ensembl) OSTA, OSTalpha
SLC51BGeneProductENSG00000186198 (Ensembl) OSTB, OSTbeta
SMCO1GeneProductENSG00000214097 (Ensembl)
STAT5AGeneProductENSG00000126561 (Ensembl)
STAT5BGeneProductENSG00000173757 (Ensembl)
TCTEX1D2GeneProductENSG00000213123 (Ensembl)
TFGeneProductENSG00000091513 (Ensembl) Transferrin
TFRCGeneProductENSG00000072274 (Ensembl)
TGFB1GeneProductENSG00000105329 (Ensembl)
TM4SF19-AS1RnaENSG00000235897 (Ensembl) ncRNA
TM4SF19-TCTEX1D2RnaENSG00000273331 (Ensembl) ncRNA
TM4SF19GeneProductENSG00000145107 (Ensembl)
TNK2-AS1RnaENSG00000224614 (Ensembl) ncRNA
TNK2GeneProductENSG00000061938 (Ensembl) ACK1
Taurocholic acidMetabolite6675 (PubChem-compound)
UBE2NGeneProductENSG00000177889 (Ensembl)
UBXN7-AS1RnaENSG00000225822 (Ensembl) ncRNA
UBXN7GeneProductENSG00000163960 (Ensembl)
WDR34GeneProductENSG00000119333 (Ensembl)
WDR53GeneProductENSG00000185798 (Ensembl)
WDR60GeneProductENSG00000126870 (Ensembl)
WWOXGeneProductENSG00000186153 (Ensembl)
ZDHHC19GeneProductENSG00000163958 (Ensembl) Palmitoyltransferase
ZNF76GeneProductENSG00000065029 (Ensembl)
hsa-mir-4797RnaENSG00000265850 (Ensembl)
palmitoyl-CoA(4−)Metabolite57379 (ChEBI)
uH2BGeneProductubiquitinated histone H2B - histone H2B is a gene family of about 23 genes

Annotated Interactions

View all...
SourceTargetTypeDatabase referenceComment
CTP4−CDP-choline(1−)mim-conversion18997 (Rhea)
CTP4−Diphosphate(3−)mim-conversion18997 (Rhea)
Choline phosphate(1−)CDP-choline(1−)mim-conversion18997 (Rhea)
Choline phosphate(1−)Diphosphate(3−)mim-conversion18997 (Rhea)
FNDC8MAD2L1BPmim-bindingEBI-25261866 (IntAct)
FNDC8MCRS1mim-bindingEBI-23791541 (IntAct)
FNDC8PIK3R3mim-bindingEBI-24039109 (IntAct)
FNDC8ZNF76mim-bindingEBI-23501218 (IntAct)
L-serine residue O-phospho-L-serine(2−) residuemim-conversion17989 (Rhea)
SMCO1FNDC8mim-bindingEBI-23405860 (IntAct)
ZDHHC19mim-catalysis36683 (Rhea)
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