5q35 copy number variation (Homo sapiens)

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1440172722453384414152322371317304011037314, 16, 20, 293612257, 33142834939451143198362434312642181421591541Desensitization and internalizationInhibitionRenal brush border membranePhosphorylatedacts as a H3K27 mimicincreases selectively H3K27me3 when knocked outConversionATP-dependent RNA helicasemay bind to miRNA hairpinsFunction unknownLiposomeAccumulationInvolved in autophagy-related processesUbiquitinatedDNA damage repairinvolved in ER secretory pathwayFunction unknownLEGENDchr5:175,720,924Lipid droplet degradationFacilitates ribosome bindingMay be involved in the regulation of neuronalsurvival, differentiation and axonal outgrowthMay play a role in cell-cell adhesion and contact inhibitionStimulationBiosynthesis of the tetrasaccharide linkageregion of proteoglycansBindingAggregationCatalysisNeurite outgrowth632MT-CO1Histone 3Ca2+PTPN2Netrin signaling pathwayPNPLA2GNAI3MIR4281ARL10COX7A1HIP1INPP5DKDM6BssRNAMAXTRIAP1BABAM2ZNF346ANKS4BSRCMT-CO27-methylguanosine-containing mRNA cap O-glycansTSPAN17B4GALT7SLC34A1UNC5AF12StaurosporineBRCA1-A complexApoptosisPhosphateBRCA1COX7BTPM2NSD1ActinD-glucose 6-phosphateRN7SL684PFGF1RAB24GRB2ARFGAP2GRK6H2AXGNAI2FRS2RNF44CYP7A1FGFR4BABAM1GNAI1N-acetyl-D-galactosamineGRIN1PRELID1COX5BPolyprolineTMED10DBN1COX5APLCG1COX7CFGF19LMAN2PFN3MAPK9Phosphatidylinositol 4,5-bisphosphateSOS1ABL1KIAA1191SNCANOP16Primary bile acid biosynthesisCAPN3IGF1RHigh-mannose N-glycan groupFAF2EIF4E1BPRR7NTN1MAPK8IGF-1 signalingCanonical NF-kB pathwayMYCABHD56-HydroxydopaminedsRNAProtein ubiquitinationApoptosisHIC2COX6CMT-CO3Phosphatidylinositol 3-phosphatePIK3R1D-glucoseHIP1RMAGED1COX4I1FBXW7BRCC3MYO7BMIR1271SIMC1Inositol 1,4,5-trisphosphateHK3NELFBCOX6A1BARD1CXCR4Phosphatidylinositol 4-phosphateCLTBRGS14TMED2FAM193BG protein-coupled receptorsPTPRN2dsDNAF-ActinGRIN2BHIGD2AD-fructoseDDX41DOK3EEDSNCBABRAXAS1PDLIM7CDHR5USH1CTMED9DRD2Coagulation cascadeJUNMXD3GPRIN1H2AD-fructose-6-phosphateUIMC1MAPK10phosphatidic acidsGAB1PTHcardiolipinshsa-miR-654-5pCOX6B1DiacylglycerolCOX8A11Controls the packing of microvilli at the apical membrane of epithelial cellsCDHR521ADAM10HIGD2ACDHR2CDHR2Function unknownFRS2PLCG1PPMAP kinase signaling pathwayPI3K-AKT1 signaling pathwaySecondary bile acid biosynthesisHistone 3MMPRELID1phosphatidic acidsLiposomephosphatidic acidsGNAI3MAP kinase signaling pathwayNa+PhosphateNa+G protein-coupled receptorsPJUNJUNJUNPUPUMethylatedMchr5:175,720,924123421812UIMC14040PRR7PRR743


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Bibliography

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History

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CompareRevisionActionTimeUserComment
134531view16:31, 22 July 2024EgonwAdded a missing datasource
134530view14:34, 22 July 2024EgonwRemoved template comments
134447view23:53, 21 July 2024EweitzOntology Term : 'disease of mental health' added !
127451view18:32, 3 October 2023Khanspersconnected one interaction and updated legend from interactions to graphical lines
127116view22:26, 3 August 2023AlexanderPicofixed characters in bibliography
127093view10:48, 2 August 2023FehrhartOntology Term : 'disease pathway' added !
127092view10:48, 2 August 2023FehrhartOntology Term : 'Sotos syndrome' added !
127091view10:47, 2 August 2023FehrhartModified description
127090view10:42, 2 August 2023Fehrhartcorrection
127089view10:00, 2 August 2023Fehrhartcorrection and update in progress
127084view14:01, 1 August 2023Fehrhartupdate and correction in progress
127083view10:24, 1 August 2023Fehrhartcorrecton and update in progress
127074view13:02, 27 July 2023Fehrhartcorrection in progress
127073view12:20, 27 July 2023Fehrhartcorrection in progress
127072view11:33, 27 July 2023Fehrhartcorrection in progress
127071view11:25, 27 July 2023Fehrhartcorrections
127070view10:18, 27 July 2023Fehrhartcorrections
127069view09:49, 27 July 2023Fehrhartcorrections
126928view06:05, 7 July 2023EgonwTyped a number of datanodes as metabolite
126854view20:43, 27 June 2023Ewoud
126850view09:41, 27 June 2023Ewoud
126848view09:31, 27 June 2023Ewoud
126676view16:03, 11 June 2023Ewoudfiller
126675view16:03, 11 June 2023Ewoudfiller
126674view16:02, 11 June 2023EwoudNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
GeneProduct
6-HydroxydopamineMetaboliteCHEBI:78741 (ChEBI)
7-methylguanosine-containing mRNA cap
ABHD5GeneProductENSG00000011198 (Ensembl)
ABL1GeneProductENSG00000097007 (Ensembl)
ABRAXAS1GeneProductENSG00000163322 (Ensembl)
ADAM10GeneProductENSG00000137845 (Ensembl)
ANKS4BGeneProductENSG00000175311 (Ensembl)
ARFGAP2GeneProductENSG00000149182 (Ensembl)
ARL10GeneProductENSG00000175414 (Ensembl)
ActinGeneProductPF00022 (Rfam)
ApoptosisPathwayWP254 (WikiPathways)
ApoptosisPathwaymap04210 (KEGG Pathway)
B4GALT7GeneProductENSG00000027847 (Ensembl)
BABAM1GeneProductENSG00000105393 (Ensembl)
BABAM2GeneProductENSG00000158019 (Ensembl)
BARD1GeneProductENSG00000138376 (Ensembl)
BRCA1-A complexCPX-4425Complex portal
BRCA1GeneProductENSG00000012048 (Ensembl)
BRCC3GeneProductENSG00000185515 (Ensembl)
CAPN3GeneProductENSG00000092529 (Ensembl)
CDHR2GeneProductENSG00000074276 (Ensembl)
CDHR5GeneProductENSG00000099834 (Ensembl)
CLTBGeneProductENSG00000175416 (Ensembl)
COX4I1GeneProductENSG00000131143 (Ensembl)
COX5AGeneProductENSG00000178741 (Ensembl)
COX5BGeneProductENSG00000135940 (Ensembl)
COX6A1GeneProductENSG00000111775 (Ensembl)
COX6B1GeneProductENSG00000126267 (Ensembl)
COX6CGeneProductENSG00000164919 (Ensembl)
COX7A1GeneProductENSG00000161281 (Ensembl)
COX7BGeneProductENSG00000131174 (Ensembl)
COX7CGeneProductENSG00000127184 (Ensembl)
COX8AGeneProductENSG00000176340 (Ensembl)
CXCR4GeneProductENSG00000121966 (Ensembl)
CYP7A1GeneProductENSG00000167910 (Ensembl)
Ca2+MetaboliteCHEBI:29108 (ChEBI)
Canonical NF-kB pathwayPathwayWP4562 (WikiPathways)
Coagulation cascadePathwaymap04610 (KEGG Pathway)
D-fructose-6-phosphateMetaboliteQ32039197 (Wikidata)
D-fructoseMetaboliteCHEBI:15824 (ChEBI)
D-glucose 6-phosphateMetaboliteCHEBI:4170 (ChEBI)
D-glucoseMetaboliteCHEBI:17634 (ChEBI)
DBN1GeneProductENSG00000113758 (Ensembl)
DDX41GeneProductENSG00000183258 (Ensembl)
DOK3GeneProductENSG00000146094 (Ensembl)
DRD2GeneProductENSG00000149295 (Ensembl)
DiacylglycerolMetaboliteHMDB0242173 (HMDB)
EEDGeneProductENSG00000074266 (Ensembl)
EIF4E1BGeneProductENSG00000175766 (Ensembl)
F-ActinGeneProductPF00022 (Pfam)
F12GeneProductENSG00000131187 (Ensembl)
FAF2GeneProductENSG00000113194 (Ensembl)
FAM193BGeneProductENSG00000146067 (Ensembl)
FBXW7GeneProductENSG00000109670 (Ensembl)
FGF19GeneProductENSG00000162344 (Ensembl)
FGF1GeneProductENSG00000113578 (Ensembl)
FGFR4GeneProductENSG00000160867 (Ensembl)
FRS2GeneProductENSG00000166225 (Ensembl)
G protein-coupled receptors
GAB1GeneProductENSG00000109458 (Ensembl)
GNAI1GeneProductENSG00000127955 (Ensembl)
GNAI2GeneProductENSG00000114353 (Ensembl)
GNAI3GeneProductENSG00000065135 (Ensembl)
GPRIN1GeneProductENSG00000169258 (Ensembl)
GRB2GeneProductENSG00000177885 (Ensembl)
GRIN1GeneProductENSG00000176884 (Ensembl)
GRIN2BGeneProductENSG00000273079 (Ensembl)
GRK6GeneProductENSG00000198055 (Ensembl)
H2AGeneProduct
H2AXGeneProductENSG00000188486 (Ensembl)
HIC2GeneProductENSG00000169635 (Ensembl)
HIGD2AGeneProductENSG00000146066 (Ensembl)
HIP1GeneProductENSG00000127946 (Ensembl)
HIP1RGeneProductENSG00000130787 (Ensembl)
HK3GeneProductENSG00000160883 (Ensembl)
High-mannose N-glycan groupMetaboliteCHEBI:156208 (ChEBI)
Histone 3GeneProductENSG00000163041 (Ensembl)
IGF-1 signalingPathwayWP2892 (WikiPathways)
IGF1RGeneProductENSG00000140443 (Ensembl)
INPP5DGeneProductENSG00000168918 (Ensembl)
Inositol 1,4,5-trisphosphateMetaboliteCHEBI:16595 (ChEBI)
JUNGeneProductENSG00000177606 (Ensembl)
KDM6BGeneProductENSG00000132510 (Ensembl) JMJD3
KIAA1191GeneProductENSG00000122203 (Ensembl)
LMAN2GeneProductENSG00000169223 (Ensembl)
MAGED1GeneProductENSG00000179222 (Ensembl)
MAP kinase signaling pathwayPathwaymap04010 (KEGG Pathway)
MAPK10GeneProductENSG00000109339 (Ensembl)
MAPK8GeneProductENSG00000107643 (Ensembl)
MAPK9GeneProductENSG00000050748 (Ensembl)
MAXGeneProductENSG00000125952 (Ensembl)
MIR1271GeneProductENSG00000221464 (Ensembl)
MIR4281GeneProductENSG00000266329 (Ensembl)
MT-CO1GeneProductENSG00000198804 (Ensembl)
MT-CO2GeneProductENSG00000198712 (Ensembl)
MT-CO3GeneProductENSG00000198938 (Ensembl)
MXD3GeneProductENSG00000213347 (Ensembl)
MYCGeneProductENSG00000136997 (Ensembl)
MYO7BGeneProductENSG00000169994 (Ensembl)
N-acetyl-D-galactosamineMetaboliteCHEBI:28037 (ChEBI)
NELFBGeneProductENSG00000188986 (Ensembl)
NOP16GeneProductENSG00000048162 (Ensembl)
NSD1GeneProductENSG00000165671 (Ensembl)
NTN1GeneProductENSG00000065320 (Ensembl)
Na+MetaboliteCHEBI:29101 (ChEBI)
Netrin signaling pathwayPathwayWP4747 (WikiPathways)
O-glycansMetaboliteCHEBI:59521 (ChEBI)
PDLIM7GeneProductENSG00000196923 (Ensembl)
PFN3GeneProductENSG00000196570 (Ensembl)
PI3K-AKT1 signaling pathwayPathwaymap04151 (KEGG Pathway)
PIK3R1GeneProductENSG00000145675 (Ensembl)
PLCG1GeneProductENSG00000124181 (Ensembl)
PNPLA2GeneProductENSG00000177666 (Ensembl)
PRELID1GeneProductENSG00000169230 (Ensembl)
PRR7GeneProductENSG00000131188 (Ensembl)
PTHGeneProductENSG00000152266 (Ensembl)
PTPN2GeneProductENSG00000175354 (Ensembl)
PTPRN2GeneProductENSG00000155093 (Ensembl)
PhosphateMetaboliteCHEBI:43474 (ChEBI)
Phosphatidylinositol 3-phosphateMetaboliteCHEBI:26034 (ChEBI)
Phosphatidylinositol 4,5-bisphosphateMetaboliteCHEBI:18348 (ChEBI)
Phosphatidylinositol 4-phosphateMetaboliteCHEBI:17526 (ChEBI)
PolyprolineMetaboliteCHEBI:8321 (ChEBI)
Primary bile acid biosynthesisPathwaymap00120 (KEGG Pathway)
Protein ubiquitinationPathwayWP4125 (WikiPathways)
RAB24GeneProductENSG00000169228 (Ensembl)
RGS14GeneProductENSG00000169220 (Ensembl)
RN7SL684PGeneProductENSG00000243959 (Ensembl)
RNF44GeneProductENSG00000146083 (Ensembl)
SIMC1GeneProductENSG00000170085 (Ensembl)
SLC34A1GeneProductENSG00000131183 (Ensembl)
SNCAGeneProductENSG00000145335 (Ensembl)
SNCBGeneProductENSG00000074317 (Ensembl)
SOS1GeneProductENSG00000115904 (Ensembl)
SRCGeneProductENSG00000197122 (Ensembl)
Secondary bile acid biosynthesisPathwaymap00121 (KEGG Pathway)
StaurosporineMetaboliteCHEBI:57491 (ChEBI)
TMED10GeneProductENSG00000170348 (Ensembl)
TMED2GeneProductENSG00000086598 (Ensembl)
TMED9GeneProductENSG00000184840 (Ensembl)
TPM2GeneProductENSG00000198467 (Ensembl)
TRIAP1GeneProductENSG00000170855 (Ensembl)
TSPAN17GeneProductENSG00000048140 (Ensembl)
UIMC1GeneProductENSG00000087206 (Ensembl)
UNC5AGeneProductENSG00000113763 (Ensembl)
USH1CGeneProductENSG00000006611 (Ensembl)
ZNF346GeneProductENSG00000113761 (Ensembl)
cardiolipinsMetaboliteCHEBI:28494 (ChEBI)
dsDNAMetaboliteCHEBI:4705 (ChEBI)
dsRNARna
hsa-miR-654-5pRnaMIMAT0003330 (miRBase mature sequence)
phosphatidic acidsMetaboliteCHEBI:16337 (ChEBI)
ssRNARna

Annotated Interactions

No annotated interactions

Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP5380"
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