5q35 copy number variation (Homo sapiens)

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4321226242719221, 2, 31, 3989, 40343333812131830382152642202636136614274132354431423292617212534107Desensitization and internalizationLipid droplet degradationRenal brush border membraneInvolved in autophagy-related processesPhosphorylatedNeurite outgrowthConversionCatalysismay bind to miRNA hairpinsFunction unknownLiposomeAccumulationATP-dependent RNA helicaseAggregationUbiquitinatedFunction unknownMay play a role in cell-cell adhesion and contact inhibitionBiosynthesis of the tetrasaccharide linkageregion of proteoglycansInhibitionRequired for actin polymerization at immunological synapses, and for the recruitment of the chemokine receptor CXCR4acts as a H3K27 mimicincreases selectively H3K27me3 when knocked outFacilitates ribosome bindingBindingActin cytoskeleton-organizing protein that plays a role in the formation of cell projectionsStimulationchr5:175,720,924DNA damage repairLEGENDinvolved in ER secretory pathwayMay be involved in the regulation of neuronalsurvival, differentiation and axonal outgrowthMay function as a scaffold on which the coordinatedassembly of proteins can occur1637HIGD2AD-glucoseProtein ubiquitinationGNAI3GRK6MXD3ANKS4BNELFBSNCAPLCG16-HydroxydopamineCOX7BGPRIN1TMED9BRCA1-A complexH2AHIC2MYCGRIN1BABAM2BABAM1ABL1MT-CO2PolyprolinecardiolipinsZNF346FAF2PRR7D-fructose-6-phosphateCOX6A1IGF1RJUNRN7SL684PApoptosisF12NTN1MIR4281COX7A1PTHTMED2UIMC1EIF4E1B7-methylguanosine-containing mRNA cap Histone 3Phosphatidylinositol 4,5-bisphosphateCOX5ARGS14Ca2+GNAI2EEDCYP7A1HIP1RHIP1dsRNAPRELID1BRCA1ABHD5PhosphatePTPN2PIK3R1High-mannose N-glycan grouphsa-miR-654-5pSOS1FAM193BPDLIM7MT-CO3BARD1FGF1FRS2PFN3Phosphatidylinositol 4-phosphateBRCC3ApoptosisMAXMYO7BMAGED1FGF19COX6CARFGAP2phosphatidic acidsSNCBFGFR4SLC34A1MT-CO1Canonical NF-kB pathwayUNC5ACLTBHK3G protein-coupled receptorsFBXW7KDM6BINPP5DSRCABRAXAS1SIMC1USH1CCOX6B1ActinDiacylglycerolGAB1COX8AKIAA1191Netrin signaling pathwayPNPLA2NOP16StaurosporineTRIAP1GRIN2BBMP6 signaling pathwayDOK3Phosphatidylinositol 3-phosphatePTPRN2H2AXARL10NSD1DDX41CDHR5ssRNARAB24DBN1dsDNACoagulation cascadePrimary bile acid biosynthesisCOX5BCOX4I1JNK singaling pahwayB4GALT7Inositol 1,4,5-trisphosphateD-fructoseO-glycansLMAN2RNF44GRB2COX7CN-acetyl-D-galactosamineIGF-1 signalingTSPAN17TMED10D-glucose 6-phosphateGNAI1MIR1271CAPN3DRD223Controls the packing of microvilli at the apical membrane of epithelial cellsCDHR515ADAM10HIGD2ACDHR2CDHR2Function unknownFRS2PLCG1PPMAP kinase signaling pathwayPI3K-AKT1 signaling pathwaySecondary bile acid biosynthesisHistone 3MMPRELID1phosphatidic acidsLiposomephosphatidic acidsGNAI3MAP kinase signaling pathwayNa+PhosphateNa+G protein-coupled receptorsPJUNJUNJUNPUPUMethylatedMchr5:175,720,92475174142UIMC13333PRR7PRR7


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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)
BMP6 signaling pathwayPathway
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)
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)
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)
JNK singaling pahwayPathway
JUNGeneProductENSG00000177606 (Ensembl)
KDM6BGeneProductENSG00000132510 (Ensembl) JMJD3
KIAA1191GeneProductENSG00000122203 (Ensembl)
LMAN2GeneProductENSG00000169223 (Ensembl)
MAGED1GeneProductENSG00000179222 (Ensembl)
MAP kinase signaling pathwayPathwaymap04010 (KEGG Pathway)
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)
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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