5q35 copy number variation (Homo sapiens)

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32361747451, 353430431625483887322051192631471618332283621, 23, 40, 441442261925374227332718395241292613321246431InhibitionATP-dependent RNA helicaseFacilitates ribosome bindingBindingmay bind to miRNA hairpinsacts as a H3K27 mimicincreases selectively H3K27me3 when knocked outNeurite outgrowthConversionMay be involved in the regulation of neuronalsurvival, differentiation and axonal outgrowthUbiquitinatedInvolved in autophagy-related processesLEGENDchr5:175,720,924Function unknownStimulationRenal brush border membraneinvolved in ER secretory pathwayDNA damage repairAggregationLiposomeDesensitization and internalizationMay play a role in cell-cell adhesion and contact inhibitionCatalysisLipid droplet degradationAccumulationPhosphorylatedFunction unknown2224Phosphatidylinositol 4,5-bisphosphateB4GALT7phosphatidic acidsApoptosisF-ActinBARD1UNC5ACOX6A1MAGED1GPRIN1INPP5DMYCBRCA1-A complexDiacylglycerolCa2+CXCR4NELFBBABAM1dsRNAIGF-1 signalingCOX6CssRNAhsa-miR-654-5pFAF2DOK3Canonical NF-kB pathwayGRIN2BGRK6GRIN1RAB24LMAN2COX5BPTPRN2H2AMT-CO1COX5ACOX8AZNF346COX6B1SNCAInositol 1,4,5-trisphosphatedsDNAARL10StaurosporinePRR7GNAI1SLC34A1FRS2ABRAXAS1SOS1UDPTMED2JUNBABAM2H2AXRGS14BRCA1PNPLA2High-mannose N-glycan groupNetrin signaling pathwayMAXEED6-HydroxydopamineTSPAN17TMED10HIC2CYP7A1TPM2BRCC3PIK3R1NSD1MAPK10GNAI3DDX41NOP16HIP1SRCIGF1RDBN1N-acetyl-D-galactosamineDRD2RN7SL684PFBXW7PRELID1SIMC1Phosphatidylinositol 3-phosphatePFN3O3-(4-β-D-galactosyl-β-D-xylosyl)-L-serine residueProtein ubiquitinationGAB1D-glucose 6-phosphatePolyprolineD-fructose-6-phosphateMAPK8COX7BHK3TMED9ApoptosisUSH1CUDP-α-D-galactoseCAPN3cardiolipinsRNF44G protein-coupled receptorsCLTBPLCG1MIR1271CDHR5COX4I1ABL1Coagulation cascadeEIF4E1BPrimary bile acid biosynthesisKIAA1191ANKS4BCOX7CActinPhosphateMYO7B7-methylguanosine-containing mRNA cap MAPK9ABHD5GRB2FAM193BPDLIM7GNAI2O-glycansHistone 3MXD3MIR4281PTPN2O3-(β-D-xylosyl)-L-serine residueD-glucoseCOX7A1KDM6BSNCBUIMC1FGFR4FGF19HIGD2AMT-CO3RNAD-fructoseNTN1MT-CO2Phosphatidylinositol 4-phosphateHIP1RPTHF12ARFGAP2TRIAP1FGF17Controls the packing of microvilli at the apical membrane of epithelial cellsCDHR56ADAM10HIGD2ACDHR2CDHR2Function unknownFRS2PLCG1PPMAP kinase signaling pathwayPI3K-AKT1 signaling pathwaySecondary bile acid biosynthesisHistone 3MMPRELID1phosphatidic acidsLiposomephosphatidic acidsGNAI3MAP kinase signaling pathwayNa+PhosphateNa+G protein-coupled receptorsPJUNJUNJUNPUPUMethylatedMchr5:175,720,9243343429UIMC1482727PRR7PRR720434343


Description

A deletion in the chromosomal region 5q35 can cause the rare genetic disorder Sotos syndrome. Sotos syndrome is characterised by psychiatric disorders (autism, intellectual disability, developmental delay) and excessive growth. Also, duplication of 5q35 have been recorded.

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Bibliography

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History

View all...
CompareRevisionActionTimeUserComment
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)
O3-(4-β-D-galactosyl-β-D-xylosyl)-L-serine residueMetabolite132088 (ChEBI)
O3-(β-D-xylosyl)-L-serine residueMetabolite132085 (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)
RNAMetaboliteCHEBI:33697 (ChEBI)
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)
UDP-α-D-galactoseMetabolite66914 (ChEBI)
UDPMetabolite58223 (ChEBI)
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

SourceTargetTypeDatabase referenceComment
B4GALT7mim-catalysis15297 (Rhea)
O3-(β-D-xylosyl)-L-serine residueO3-(4-β-D-galactosyl-β-D-xylosyl)-L-serine residuemim-conversion15297 (Rhea)
UDP-α-D-galactoseUDPmim-conversion15297 (Rhea)
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