7q11.23 copy number variation syndrome (Homo sapiens)

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2, 183812, 19303826534293, 171392597, 24, 282133292313104301522261120363527324132926366823379341632319methyl-transferaseactivityno specific functionsknownchaperone functionBrain developmentmethylation of rRNAinvolved in protein synthesisimportant for embryonic development, especialyof cranio-facial featuresdendrite phenotypedevelopmentincreased Ca2+ fluxclearance of ubiquitinated proteins in the aggreasomesynaptic plasticityheart developmentunknown functionfunction not knownInvolved in histone methylationChromosome 7:72,744,454Neurotransmitter release mechanism in synapsistranslocation14RN7SL265PFZD9pyruvateBAZ1BOGDHL-methionine zwitterionATP8NRG1ATP5DMLXIPLLIMK1ATP5MC2AcetylcholineS-adenosyl-L-homocysteine zwitterionGTF2IRD2P1rRNADopamineDDX21 CHRNA7ATP5PBSMARCA5BECN1SPDYE9FKBP6S-adenosyl-L-homocysteineNSUN5FASSF3B1MYO1CESCRT-I complexATP5A15'-deoxyadenosineNUP62Oxoglutarate dehydrogenase complexEndosomal buddingH2OELN-AS15-methylcytidine 5'-monophosphate(1−) residueVPS9D1SPDYE7PELNUBE2E1Elastic fibre formationSNARE complexN7-methylguanosine 5'-phosphate residuerapamycinH2AXWnt SignalingSTAG3L3ATP5OVAMP2LipogenesisSQSTM1CO2HMGA1FBN1ATP5MC1RNU6-1198PRN7SL377PRNU6-1080PACACATRIM50GABAATP6ATPClostridium enterotoxinULK1ATP5BGAPDHNorepinephrinePMS2P7SerotoninNSUN5P2VPS37DTBL2ATP5ES-adenosyl-L-methionine zwitterionBCL7BEIF2AK3HSPA2guanosine 5'-monophosphate residueBAZ1BACACBERCC6DLSTEIF2AS-adenosyl-L-methionineCDKN1CFBLN5TMEM270ATP5MC3hsa-mir-4284SPDYE11synaptonemal complexMYBBP1APKLRMVB12AGTF2IP4PCNATYW1BSTX1ADEKWNT2RN7SL625PGRIP1L-tyrosine residueBUD23UBIAD1GlutamateCLDN5ZC3H12ACLDN4STX1ATCA cycleUBE2L6glucoseDNAJC30N1-methylguanosine 5'-monophosphate(1−) residueCTNNB1PHBP5SPDYE10PPMS2P6B-WICH chromatin remodelling complexFBLN2ABHD11-AS1Nuclear pore complexUBE2E3S-adenosyl-L-methionine zwitterionNCF1BCLDN1TCF4Botulinum neurotoxin type CSPDYE8METTL27SNAP25POM121BTight junctions DLDCLTCTRIM74TSG101ATP synthase F0 and F1 complexATPAF2HDAC6POM121CLDN3Cl-FK506ER stressATF4cytidine 5'-monophosphate(1−) residueATPAF14-demethylwyosine 5'-monophosphate(1−) residueSBDSP1CFL1ABHD11Chromosome 7:74,142,513RNA genephosphorylated statepseudo geneubiquitinated stateBECN1UBECN1U13TRIM508TRIM50151530Schizophrenia risk gene12, 1912, 1912, 19FKBP6ADP L-tyrosine-O-phosphate(2−) residue2323H2AX21Apoptosis2121EIF2AATF49FASACACAACACBPKLR7, 24, 287, 24, 28VPS287, 24, 28VPS37AVPS37BVPS37CVPS37DVirus budding3636NorepinephrineGABASerotoninDopamineGlutamateAcetylcholine11Cl-


Description

7q11.23 copy number variation syndrome (MIM 609757, also called Williams-Beuren region duplication syndrome, WBS duplication syndrome, Chromosome 7q11.23 duplication syndrome, or Somerville-van-der-Aa syndrome) is a copy number variation syndrome with a duplication in the region chr7:72,744,454-74,142,513.

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Bibliography

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History

View all...
CompareRevisionActionTimeUserComment
134613view10:18, 23 July 2024EweitzOntology Term : 'chromosomal duplication syndrome' added !
126861view04:34, 28 June 2023EgonwSet the data source for the Complex Portal identifier
118797view06:37, 2 June 2021Fehrhartconnected unconnected line
115788view08:32, 12 March 2021Fehrhartfixed unconnected line
115787view08:29, 12 March 2021Fehrhartupdate in progress
115786view08:09, 12 March 2021Fehrhartupdate in progress
115771view13:13, 11 March 2021FehrhartModified description
115770view13:11, 11 March 2021Fehrhartupdate in progress
115769view13:04, 11 March 2021Fehrhartupdate according to GRCh37/hg19
113696view14:49, 16 November 2020FehrhartCorrected typo
112919view10:08, 20 October 2020Fehrhartconverted legend to graphical line
112279view08:19, 9 October 2020EgonwReplaced secondary ChEBI identifiers with primary identifiers.
112266view14:07, 8 October 2020Fehrhartfirst draft finished
112265view13:38, 8 October 2020Fehrhartwork in progress
112264view12:52, 8 October 2020Fehrhartwork in progress
112263view12:35, 8 October 2020Fehrhartwork in progress
112222view16:22, 1 October 2020Fehrhartwork in progress
112221view15:24, 1 October 2020Fehrhartwork in progress
112193view12:42, 1 October 2020Fehrhartwork in progress
112189view11:54, 1 October 2020Fehrhartwork in progress
112049view14:37, 17 September 2020FehrhartModified description
112048view14:36, 17 September 2020FehrhartModified title
111503view07:11, 21 August 2020Fehrhartwork in progress
111502view07:03, 21 August 2020Fehrhartwork in progress
111501view13:58, 20 August 2020Fehrhartwork in progress
111356view16:23, 31 July 2020EgonwReplaced a secondary ChEBI identifier with a primary one.
111314view08:21, 28 July 2020Fehrhartwork in progress
111313view08:10, 28 July 2020Fehrhartwork in progress
111312view06:28, 28 July 2020Fehrhartwork in progress
111130view13:09, 16 July 2020FehrhartSPDYE11
111129view12:40, 16 July 2020Fehrhartupdate on TRIM50
111018view14:19, 30 June 2020Fehrhart
110999view11:33, 26 June 2020EgonwReplaced a secondary ChEBI identifier with a primary one
110973view13:33, 25 June 2020FehrhartPOM121
110972view07:29, 25 June 2020Fehrhartwork in progress
110968view14:09, 24 June 2020FehrhartOntology Term : 'genetic disease' added !
110967view14:09, 24 June 2020FehrhartOntology Term : 'Williams-Beuren syndrome' added !
110966view14:09, 24 June 2020FehrhartOntology Term : 'disease pathway' added !
110965view13:52, 24 June 2020FehrhartModified description
110964view13:51, 24 June 2020FehrhartModified title
110906view13:22, 19 June 2020Fehrhartwork in progress
110901view18:08, 18 June 2020FehrhartModified description
110900view18:05, 18 June 2020FehrhartNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
L-tyrosine-O-phosphate(2−) residueMetabolite82620 (ChEBI)
4-demethylwyosine 5'- monophosphate(1−) residueMetabolite64315 (ChEBI)
5'-deoxyadenosineMetaboliteCHEBI:17319 (ChEBI)
5-methylcytidine 5'-monophosphate(1−) residueMetabolite74483 (ChEBI)
ABHD11-AS1GeneProductENSG00000225969 (Ensembl)
ABHD11GeneProductENSG00000106077 (Ensembl)
ACACAGeneProductENSG00000278540 (Ensembl)
ACACBGeneProductENSG00000076555 (Ensembl)
ADPMetabolite456216 (ChEBI)
ATF4ProteinENSG00000128272 (Ensembl)
ATP synthase F0 and F1 complexComplex
ATPMetabolite30616 (ChEBI)
ATP5A1GeneProductENSG00000152234 (Ensembl)
ATP5BGeneProductENSG00000110955 (Ensembl)
ATP5DGeneProductENSG00000099624 (Ensembl)
ATP5EGeneProductENSG00000124172 (Ensembl)
ATP5MC1GeneProductENSG00000159199 (Ensembl) ATP5G1
ATP5MC2GeneProductENSG00000135390 (Ensembl) ATP5G2
ATP5MC3GeneProductENSG00000154518 (Ensembl) ATP5G3
ATP5OGeneProductENSG00000241837 (Ensembl)
ATP5PBGeneProductENSG00000116459 (Ensembl) ATP5F1
ATP6GeneProductENSG00000198899 (Ensembl) MT-ATP6
ATP8GeneProductENSG00000228253 (Ensembl) MT-ATP8
ATPAF1GeneProductENSG00000123472 (Ensembl)
ATPAF2GeneProductENSG00000171953 (Ensembl)
AcetylcholineMetaboliteCHEBI:15355 (ChEBI)
ApoptosisPathwayWP254 (WikiPathways)
B-WICH chromatin remodelling complexComplexCPX-1099 (Other)
BAZ1BGeneProductENSG00000009954 (Ensembl)
BAZ1BGeneProductQ9UIG0 (Uniprot-TrEMBL)
BCL7BGeneProductENSG00000106635 (Ensembl)
BECN1GeneProductENSG00000126581 (Ensembl)
BUD23GeneProductENSG00000071462 (Ensembl)
Botulinum neurotoxin type CProteinP18640 (Uniprot-TrEMBL)
CDKN1CGeneProductENSG00000129757 (Ensembl)
CFL1GeneProductENSG00000172757 (Ensembl)
CHRNA7GeneProductENSG00000175344 (Ensembl)
  • alpha-7 nicotinic receptor
  • α7nAChR
CLDN1GeneProductENSG00000163347 (Ensembl)
CLDN3GeneProductENSG00000165215 (Ensembl)
CLDN4GeneProductENSG00000189143 (Ensembl)
CLDN5GeneProductENSG00000184113 (Ensembl)
CLTCGeneProductENSG00000141367 (Ensembl)
CO2MetaboliteCHEBI:16526 (ChEBI)
CTNNB1GeneProductENSG00000168036 (Ensembl)
Cl-MetaboliteCHEBI:17996 (ChEBI)
Clostridium enterotoxinProteinPF03505 (Pfam)
DDX21 GeneProductQ9NR30 (Uniprot-TrEMBL)
DEKGeneProductP35659 (Uniprot-TrEMBL)
DLDGeneProductENSG00000091140 (Ensembl)
DLSTGeneProductENSG00000119689 (Ensembl)
DNAJC30GeneProductENSG00000176410 (Ensembl)
DopamineMetaboliteCHEBI:18243 (ChEBI)
EIF2AGeneProductENSG00000144895 (Ensembl)
EIF2AK3GeneProductENSG00000172071 (Ensembl) PERK
ELN-AS1GeneProductENSG00000232415 (Ensembl)
ELNGeneProductENSG00000049540 (Ensembl)
ER stressPathwayWP4861 (WikiPathways)
ERCC6GeneProductQ03468 (Uniprot-TrEMBL)
ESCRT-I complexComplexESCRT-I (Ensembl)
Elastic fibre formationPathwayWP2666 (WikiPathways)
Endosomal buddingPathway
FASGeneProductENSG00000026103 (Ensembl)
FBLN2GeneProductENSG00000163520 (Ensembl)
FBLN5GeneProductENSG00000140092 (Ensembl)
FBN1GeneProductENSG00000166147 (Ensembl)
FK506MetaboliteCHEBI:61049 (ChEBI)
FKBP6GeneProductENSG00000077800 (Ensembl)
FZD9GeneProductENSG00000188763 (Ensembl)
GABAMetabolite16865 (ChEBI)
GAPDHGeneProductENSG00000111640 (Ensembl)
GRIP1GeneProductENSG00000155974 (Ensembl)
GTF2IP4GeneProductENSG00000233369 (Ensembl)
GTF2IRD2P1GeneProductENSG00000214544 (Ensembl)
GlutamateMetaboliteCHEBI:14321 (ChEBI)
H2AXProteinP16104 (Uniprot-TrEMBL)
H2OMetaboliteCHEBI:15377 (ChEBI)
HDAC6GeneProductENSG00000094631 (Ensembl)
HMGA1GeneProductENSG00000137309 (Ensembl)
HSPA2GeneProductENSG00000126803 (Ensembl)
L-methionine zwitterionMetabolite57844 (ChEBI)
L-tyrosine residueMetabolite46858 (ChEBI)
LIMK1GeneProductENSG00000106683 (Ensembl)
LipogenesisPathwayWP3965 (WikiPathways)
METTL27GeneProductENSG00000165171 (Ensembl)
MLXIPLGeneProductENSG00000009950 (Ensembl) ChREBP
MVB12AGeneProductENSG00000141971 (Ensembl)
MYBBP1AGeneProductQ9BQG0 (Uniprot-TrEMBL)
MYO1CGeneProductO00159 (Uniprot-TrEMBL)
N1-methylguanosine

5'-monophosphate(1−)

residue		Metabolite73542 (ChEBI)
N7-methylguanosine 5'-phosphate residueMetabolite74480 (ChEBI)
NCF1BGeneProductENSG00000182487 (Ensembl)
NRG1GeneProductENSG00000157168 (Ensembl)
NSUN5GeneProductENSG00000130305 (Ensembl)
NSUN5P2GeneProductENSG00000106133 (Ensembl)
NUP62GeneProductENSG00000213024 (Ensembl)
NorepinephrineMetaboliteCHEBI:18357 (ChEBI)
Nuclear pore complexComplexCPX-873 (EMBL) Complex Portal
OGDHGeneProductENSG00000105953 (Ensembl)
Oxoglutarate dehydrogenase complexComplex
PCNAGeneProductENSG00000132646 (Ensembl)
PHBP5GeneProductENSG00000233523 (Ensembl)
PKLRGeneProductENSG00000143627 (Ensembl)
PMS2P6GeneProductENSG00000174384 (Ensembl)
PMS2P7GeneProductENSG00000229018 (Ensembl)
POM121BGeneProductENSG00000205578 (Ensembl)
POM121GeneProductENSG00000196313 (Ensembl)
RN7SL265PGeneProductENSG00000241709 (Ensembl)
RN7SL377PGeneProductENSG00000266569 (Ensembl)
RN7SL625PGeneProductENSG00000274656 (Ensembl)
RNU6-1080PGeneProductENSG00000206709 (Ensembl)
RNU6-1198PGeneProductENSG00000252713 (Ensembl)
S-adenosyl-L-homocysteine zwitterionMetabolite57856 (ChEBI)
S-adenosyl-L-homocysteineMetabolite16680 (ChEBI)
S-adenosyl-L-methionine zwitterionMetabolite59789 (ChEBI)
S-adenosyl-L-methionine zwitterionMetabolite59789 (ChEBI)
S-adenosyl-L-methionineMetabolite15414 (ChEBI)
SBDSP1GeneProductENSG00000225648 (Ensembl)
SF3B1GeneProductO75533 (Uniprot-TrEMBL)
SMARCA5GeneProductO60264 (Uniprot-TrEMBL)
SNAP25GeneProductENSG00000132639 (Ensembl)
SNARE complexComplex
SPDYE10PGeneProductENSG00000274570 (Ensembl)
SPDYE11GeneProductENSG00000286228 (Ensembl)
SPDYE7PGeneProductENSG00000179994 (Ensembl)
SPDYE8GeneProductENSG00000273520 (Ensembl)
SPDYE9GeneProductENSG00000262461 (Ensembl)
SQSTM1GeneProductENSG00000161011 (Ensembl)
STAG3L3GeneProductENSG00000174353 (Ensembl)
STX1AGeneProductENSG00000106089 (Ensembl)
SerotoninMetaboliteCHEBI:28790 (ChEBI)
TBL2GeneProductENSG00000106638 (Ensembl)
TCA cyclePathwayWP78 (WikiPathways)
TCF4GeneProductENSG00000196628 (Ensembl)
TMEM270GeneProductENSG00000175877 (Ensembl)
TRIM50GeneProductENSG00000146755 (Ensembl)
TRIM74GeneProductENSG00000155428 (Ensembl)
TSG101GeneProductENSG00000074319 (Ensembl) VPS23
TYW1BGeneProductENSG00000277149 (Ensembl)
Tight junctions PathwayWP1793 (WikiPathways)
UBE2E1GeneProductENSG00000170142 (Ensembl)
UBE2E3GeneProductENSG00000170035 (Ensembl)
UBE2L6GeneProductENSG00000156587 (Ensembl)
UBIAD1GeneProductENSG00000120942 (Ensembl) TERE1
ULK1GeneProductENSG00000177169 (Ensembl)
VAMP2GeneProductENSG00000220205 (Ensembl)
VPS28GeneProductENSG00000160948 (Ensembl) VPS23
VPS37AGeneProductENSG00000155975 (Ensembl) VPS23
VPS37BGeneProductENSG00000139722 (Ensembl) VPS23
VPS37CGeneProductENSG00000167987 (Ensembl) VPS23
VPS37DGeneProductENSG00000176428 (Ensembl)
VPS9D1GeneProductENSG00000075399 (Ensembl) C16orf7
Virus buddingPathway
WNT2GeneProductENSG00000105989 (Ensembl)
Wnt SignalingPathwayWP428 (WikiPathways)
ZC3H12AGeneProductENSG00000163874 (Ensembl)
cytidine 5'-monophosphate(1−) residueMetabolite82748 (ChEBI)
glucoseMetaboliteCHEBI:17234 (ChEBI)
guanosine 5'-monophosphate residueMetabolite50324 (ChEBI)
hsa-mir-4284GeneProductMI0015893 (miRBase Sequence)
pyruvateMetabolite15361 (ChEBI)
rRNAMetaboliteCHEBI:18111 (ChEBI)
rapamycinMetaboliteCHEBI:9168 (ChEBI)
synaptonemal complexComplex

Annotated Interactions

View all...
SourceTargetTypeDatabase referenceComment
ATPADPmim-conversion10596 (Rhea)
L-tyrosine residue L-tyrosine-O-phosphate(2−) residuemim-conversion10596 (Rhea)
NSUN5mim-catalysis47784 (Rhea)
S-adenosyl-L-methionine zwitterionS-adenosyl-L-homocysteine zwitterionmim-conversion47784 (Rhea)
cytidine 5'-monophosphate(1−) residue5-methylcytidine 5'-monophosphate(1−) residuemim-conversion47784 (Rhea)
mim-conversion36347 (Rhea)
Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP4932"
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