3q29 copy number variation syndrome (Homo sapiens)

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141931215821124, 1621201, 211919139, 105, 1121186172Proposed model of IFT dynein compositionBile acid transportand uptakaChromosome 3:195,788,299phosphorylated statelittle information available:upregulated in regulatory macrophages during Leishmania infectionRegulation of Iron uptakePalmitoylationcatalysesphoshporylationon tyrosineControls phosphatidylcholine synthesisRNA gene7SLC40A1Estrone sulfateRPSAP69L-cysteine residueof a proteinRNU6-910PDLG1LINC01983NCBP2AS2RNU6-42PCholine phosphate(1−)WDR60Prostaglandin E2hsa-mir-4797Fe2+RNU7-18PCTP4−PAK2palmitoyl-CoA(4−)PIGZNCBP2ATMSLC51AMELTF-AS1SMCO1CDP-choline(1−)S-palmitoyl-L-cysteine residueof a proteinRN7SL738PWWOXTM4SF19-AS1AKT1WDR53FYNRNU2-11PMIR6829DNA Double Strand Break ResponseDiphosphate(3−)CoARNF168TM4SF19-TCTEX1D2UBXN7SDHAP1DigoxinMUC4TNK2TFRPS29P3LINC01063TFRCGRB2RN7SL434PTNK2-AS1RNU6-646PSLC51BApoptosis PIGXLINC00885CEP19DYNC2LI1TCTEX1D2HFEZDHHC19DLG1-AS1ERBB2HAMPNRROSTaurocholic acidARPCYT1AFBXO45RNU4-89PKIF3AP1NCBP2-AS1MELTFTM4SF19RNU6-1279PHIF1AUBXN7-AS1SENP5DYNC2H1Chromosome 3:197,033,296AKT1ARWWOXFYNGRB2pseudo gene2120SLC51A888151515WDR34TCTEX1D2DYNLT1TCTEX1D2DYNLT3DYNLRB1DYNLRB2DYNLL1DYNLL2DYNC2LI1DYNC2H1AKT1HIF1AUUubiquitinated state


Description

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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Bibliography

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History

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CompareRevisionActionTimeUserComment
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

DataNodes

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NameTypeDatabase referenceComment
AKT1GeneProductENSG00000142208 (Ensembl)
ARGeneProductENSG00000169083 (Ensembl) NR3C4
ATMGeneProductENSG00000149311 (Ensembl)
Apoptosis PathwayWP254 (WikiPathways)
CDP-choline(1−)Metabolite58779 (ChEBI)
CEP19GeneProductENSG00000174007 (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)
FYNGeneProductENSG00000010810 (Ensembl)
Fe2+MetaboliteCHEBI:29033 (ChEBI)
GRB2GeneProductENSG00000177885 (Ensembl)
HAMPGeneProductENSG00000105697 (Ensembl)
HFEGeneProductENSG00000010704 (Ensembl)
HIF1AGeneProductENSG00000100644 (Ensembl)
KIF3AP1GeneProductENSG00000235836 (Ensembl) pseudo gene
L-cysteine residue of a proteinMetabolite29950 (ChEBI)
LINC00885RnaENSG00000224652 (Ensembl) ncRNA
LINC01063RnaENSG00000232065 (Ensembl) ncRNA
LINC01983RnaENSG00000223783 (Ensembl) ncRNA
MELTF-AS1RnaENSG00000228109 (Ensembl) ncRNA
MELTFGeneProductENSG00000163975 (Ensembl)
MIR6829RnaENSG00000276489 (Ensembl)
MUC4GeneProductENSG00000145113 (Ensembl)
NCBP2-AS1RnaENSG00000225578 (Ensembl) ncRNA
NCBP2AS2RnaENSG00000270170 (Ensembl) ncRNA
NCBP2GeneProductENSG00000114503 (Ensembl)
NRROSGeneProductENSG00000174004 (Ensembl)
PAK2GeneProductENSG00000180370 (Ensembl)
PCYT1AGeneProductENSG00000161217 (Ensembl)
PIGXGeneProductENSG00000163964 (Ensembl)
PIGZGeneProductENSG00000119227 (Ensembl)
Prostaglandin E2Metabolite5280360 (PubChem-compound)
RN7SL434PGeneProductENSG00000241868 (Ensembl) pseudo
RN7SL738PGeneProductENSG00000243339 (Ensembl) pseudo
RNF168GeneProductENSG00000163961 (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)
SLC40A1GeneProductENSG00000138449 (Ensembl) Ferroportin
SLC51AGeneProductENSG00000163959 (Ensembl) OSTA, OSTalpha
SLC51BGeneProductENSG00000186198 (Ensembl) OSTB, OSTbeta
SMCO1GeneProductENSG00000214097 (Ensembl)
TCTEX1D2GeneProductENSG00000213123 (Ensembl)
TFGeneProductENSG00000091513 (Ensembl) Transferrin
TFRCGeneProductENSG00000072274 (Ensembl)
TM4SF19-AS1RnaENSG00000235897 (Ensembl) ncRNA
TM4SF19-TCTEX1D2RnaENSG00000273331 (Ensembl) ncRNA
TM4SF19GeneProductENSG00000145107 (Ensembl)
TNK2-AS1RnaENSG00000224614 (Ensembl) ncRNA
TNK2GeneProductENSG00000061938 (Ensembl) ACK1
Taurocholic acidMetabolite6675 (PubChem-compound)
UBXN7-AS1RnaENSG00000225822 (Ensembl) ncRNA
UBXN7GeneProductENSG00000163960 (Ensembl)
WDR34GeneProductENSG00000119333 (Ensembl)
WDR53GeneProductENSG00000185798 (Ensembl)
WDR60GeneProductENSG00000126870 (Ensembl)
WWOXGeneProductENSG00000186153 (Ensembl)
ZDHHC19GeneProductENSG00000163958 (Ensembl) Palmitoyltransferase
hsa-mir-4797RnaENSG00000265850 (Ensembl)
palmitoyl-CoA(4−)Metabolite57379 (ChEBI)

Annotated Interactions

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)
ZDHHC19mim-catalysis36683 (Rhea)
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