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

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33173114511819, 272212253223122192920882428342118291210, 132456, 265162919428327, 15, 302318translocationmethylation of rRNAinvolved in protein synthesisdendrite phenotypedevelopmentNeurotransmitter release mechanism in synapsisclearance of ubiquitinated proteins in the aggreasomeincreased Ca2+ fluxBrain developmentfunction not knownchaperone functionimportant for embryonic development, especialyof cranio-facial featuresChromosome 7:72,744,454Involved in histone methylationATP8SerotoninSNAP25CO2cytidine 5'-monophosphate(1−) residueABHD11-AS1N1-methylguanosine 5'-monophosphate(1−) residueCLTCsynaptonemal complexPOM121SPDYE7PABHD11H2AXVPS9D1CLDN4TCF4Wnt SignalingTRIM50CHRNA7PHBP5FKBP6NCF1BCTNNB1SNARE complexTight junctions 5'-deoxyadenosineATP5MC2SBDSP1S-adenosyl-L-homocysteineNorepinephrineUBIAD1Nuclear pore complexBotulinum neurotoxin type CATP5MC1PKLROxoglutarate dehydrogenase complexSMARCA5HSPA2TYW1BSTX1AglucoseEIF2AK3EIF2AGAPDHMYBBP1ANSUN5SPDYE11S-adenosyl-L-methionine zwitterionZC3H12AATP5OSPDYE10PATP5ETSG101RN7SL625PBCL7BGRIP1PMS2P7SPDYE8BAZ1BS-adenosyl-L-methionine zwitterionBUD23pyruvateACACATCA cycleMVB12ASF3B1DopamineDDX21 GlutamateNUP62ATPACACBHDAC6FK506ESCRT-I complexATF4ELNUBE2E3ATP5MC3BECN1LipogenesisWNT2NSUN5P2UBE2L6SQSTM1ATP6STAG3L3CLDN1H2Ohsa-mir-42844-demethylwyosine 5'-monophosphate(1−) residueATPAF2RN7SL377PCl-LIMK1B-WICH chromatin remodelling complexFASClostridium enterotoxinDEKATP synthase F0 and F1 complexTMEM270S-adenosyl-L-methioninePOM121BHMGA1RN7SL265PMYO1CTRIM74DLDS-adenosyl-L-homocysteine zwitterionAcetylcholineVAMP2ER stressOGDHCLDN5ATP5BATP5A1ELN-AS1rRNAL-methionine zwitterionrapamycinATP5PB5-methylcytidine 5'-monophosphate(1−) residueDLSTATPAF1FZD9PCNAGTF2IP4BAZ1BULK1RNU6-1080PN7-methylguanosine 5'-phosphate residueRNU6-1198PATP5DCLDN3guanosine 5'-monophosphate residueL-tyrosine residueSPDYE9TBL2PMS2P6Endosomal buddingVPS37DDNAJC30STX1AGABAMETTL27UBE2E1GTF2IRD2P1ERCC6MLXIPLChromosome 7:74,142,513RNA genephosphorylated statepseudo geneubiquitinated stateBECN1UBECN1U1920TRIM50TRIM50171718Schizophrenia risk gene9, 279, 279, 27FKBP6ADP L-tyrosine-O-phosphate(2−) residue2323H2AX33Apopotosis3EIF2A8ATF4FASACACAACACBPKLR7, 15, 307, 15, 307, 15, 30VPS28VPS37AVPS37BVPS37CVPS37DVirus budding2222NorepinephrineGABASerotoninDopamineGlutamateAcetylcholine32Cl-


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:2416 (ChEBI)
ApopotosisPathwayWP254 (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)
CHRNA7GeneProductENSG00000175344 (Ensembl)
  • alpha-7 nicotinic receptor
  • α7nAChR
CLDN1GeneProductENSG00000163347 (Ensembl)
CLDN3GeneProductENSG00000165215 (Ensembl)
CLDN4GeneProductENSG00000189143 (Ensembl)
CLDN5GeneProductENSG00000184113 (Ensembl)
CLTCGeneProductENSG00000141367 (Ensembl)
CO2MetaboliteCHEBI:16526 (ChEBI)
CTNNB1GeneProductENSG00000168036 (Ensembl)
Cl-MetaboliteCHEBI:3731 (ChEBI)
Clostridium enterotoxinProteinPF03505 (Pfam)
DDX21 GeneProductQ9NR30 (Uniprot-TrEMBL)
DEKGeneProductP35659 (Uniprot-TrEMBL)
DLDGeneProductENSG00000091140 (Ensembl)
DLSTGeneProductENSG00000119689 (Ensembl)
DNAJC30GeneProductENSG00000176410 (Ensembl)
DopamineMetaboliteCHEBI:1764 (ChEBI)
EIF2AGeneProductENSG00000144895 (Ensembl)
EIF2AK3GeneProductENSG00000172071 (Ensembl) PERK
ELN-AS1GeneProductENSG00000232415 (Ensembl)
ELNGeneProductENSG00000049540 (Ensembl)
ER stressPathwayWP4861 (WikiPathways)
ERCC6GeneProductQ03468 (Uniprot-TrEMBL)
ESCRT-I complexComplexESCRT-I (Ensembl)
Endosomal buddingPathway
FASGeneProductENSG00000026103 (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)
NSUN5GeneProductENSG00000130305 (Ensembl)
NSUN5P2GeneProductENSG00000106133 (Ensembl)
NUP62GeneProductENSG00000213024 (Ensembl)
NorepinephrineMetaboliteCHEBI:1 (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:1420 (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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