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

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651613, 1718101189410216157151, 311127714dendrite phenotypedevelopmentmethylation of rRNAinvolved in protein synthesisfunction not knownChromosome 7:72,744,454important for embryonic development, especialyof cranio-facial featuresincreased Ca2+ fluxclearance of ubiquitinated proteins in the aggreasomeTRIM50S-adenosyl-L-methionine zwitterionSTX1ANUP62SPDYE7PRN7SL265PL-tyrosine residueELN-AS1MLXIPLABHD11SMARCA5CLDN3SPDYE9MYO1CRN7SL625PELN4-demethylwyosine 5'-monophosphate(1−) residueRNU6-1198PNuclear pore complexBUD23DNAJC30N1-methylguanosine 5'-monophosphate(1−) residueCO2SPDYE11MYBBP1AABHD11-AS1PMS2P6S-adenosyl-L-methionine zwitterionUBE2E1PMS2P7SQSTM1TRIM74rRNASF3B1GTF2IP4METTL27ULK1H2OCLTCLIMK1POM121SPDYE8ZC3H12AUBE2L6SBDSP1TMEM270ERCC6BAZ1BTYW1BSPDYE10PPCNABAZ1BWNT2STAG3L3RN7SL377PBCL7BRNU6-1080PCHRNA7BECN1FK506FKBP6GTF2IRD2P1CLDN4POM121Bcytidine 5'-monophosphate(1−) residueATPFZD9S-adenosyl-L-homocysteine zwitterionNSUN5HSPA2DDX21 NCF1BHMGA1CTNNB15'-deoxyadenosineGAPDH5-methylcytidine 5'-monophosphate(1−) residuePHBP5TBL2L-methionine zwitterionpyruvateHDAC6Wnt SignalingMIR4284DEKrapamycinNSUN5P2H2AXUBE2E3TCF4VPS37Dsynaptonemal complexB-WICH chromatin remodelling complexChromosome 7:74,142,513RNA genephosphorylated statepseudo geneubiquitinated stateBECN1UBECN1U16TRIM5014TRIM508811Schizophrenia risk gene1, 31, 31, 3FKBP6ADP L-tyrosine-O-phosphate(2−) residue15H2AX1518Apopotosis1818


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)
ADPMetabolite456216 (ChEBI)
ATPMetabolite30616 (ChEBI)
ApopotosisPathwayWP254 (WikiPathways)
B-WICH chromatin remodelling complexComplexCPX-1099 (Other)
BAZ1BGeneProductENSG00000009954 (Ensembl)
BAZ1BGeneProductQ9UIG0 (Uniprot-TrEMBL)
BCL7BGeneProductENSG00000106635 (Ensembl)
BECN1GeneProductENSG00000126581 (Ensembl)
BUD23GeneProductENSG00000071462 (Ensembl)
CHRNA7GeneProductENSG00000175344 (Ensembl)
  • alpha-7 nicotinic receptor
  • α7nAChR
CLDN3GeneProductENSG00000165215 (Ensembl)
CLDN4GeneProductENSG00000189143 (Ensembl)
CLTCGeneProductENSG00000141367 (Ensembl)
CO2MetaboliteCHEBI:16526 (ChEBI)
CTNNB1GeneProductENSG00000168036 (Ensembl)
DDX21 GeneProductQ9NR30 (Uniprot-TrEMBL)
DEKGeneProductP35659 (Uniprot-TrEMBL)
DNAJC30GeneProductENSG00000176410 (Ensembl)
ELN-AS1GeneProductENSG00000232415 (Ensembl)
ELNGeneProductENSG00000049540 (Ensembl)
ERCC6GeneProductQ03468 (Uniprot-TrEMBL)
FK506MetaboliteCHEBI:61049 (ChEBI)
FKBP6GeneProductENSG00000077800 (Ensembl)
FZD9GeneProductENSG00000188763 (Ensembl)
GAPDHGeneProductENSG00000111640 (Ensembl)
GTF2IP4GeneProductENSG00000233369 (Ensembl)
GTF2IRD2P1GeneProductENSG00000214544 (Ensembl)
H2AXProteinP16104 (Uniprot-TrEMBL)
H2OMetaboliteCHEBI:15377 (ChEBI)
HDAC6GeneProductENSG00000094631 (Ensembl)
HMGA1GeneProductENSG00000137309 (Ensembl)
HSPA2GeneProductENSG00000126803 (Ensembl)
L-methionine zwitterionMetabolite57844 (ChEBI)
L-tyrosine residueMetabolite46858 (ChEBI)
LIMK1GeneProductENSG00000106683 (Ensembl)
METTL27GeneProductENSG00000165171 (Ensembl)
MIR4284GeneProductENSG00000265724 (Ensembl)
MLXIPLGeneProductENSG00000009950 (Ensembl)
MYBBP1AGeneProductQ9BQG0 (Uniprot-TrEMBL)
MYO1CGeneProductO00159 (Uniprot-TrEMBL)
N1-methylguanosine

5'-monophosphate(1−)

residue		Metabolite73542 (ChEBI)
NCF1BGeneProductENSG00000182487 (Ensembl)
NSUN5GeneProductENSG00000130305 (Ensembl)
NSUN5P2GeneProductENSG00000106133 (Ensembl)
NUP62GeneProductENSG00000213024 (Ensembl)
Nuclear pore complexComplexCPX-873 (EMBL) Complex Portal
PCNAGeneProductENSG00000132646 (Ensembl)
PHBP5GeneProductENSG00000233523 (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-methionine zwitterionMetabolite59789 (ChEBI)
S-adenosyl-L-methionine zwitterionMetabolite59789 (ChEBI)
SBDSP1GeneProductENSG00000225648 (Ensembl)
SF3B1GeneProductO75533 (Uniprot-TrEMBL)
SMARCA5GeneProductO60264 (Uniprot-TrEMBL)
SPDYE10PGeneProductENSG00000274570 (Ensembl)
SPDYE11GeneProductENSG00000286228 (Ensembl)
SPDYE7PGeneProductENSG00000179994 (Ensembl)
SPDYE8GeneProductENSG00000273520 (Ensembl)
SPDYE9GeneProductENSG00000262461 (Ensembl)
SQSTM1GeneProductENSG00000161011 (Ensembl)
STAG3L3GeneProductENSG00000174353 (Ensembl)
STX1AGeneProductENSG00000106089 (Ensembl)
TBL2GeneProductENSG00000106638 (Ensembl)
TCF4GeneProductENSG00000196628 (Ensembl)
TMEM270GeneProductENSG00000175877 (Ensembl)
TRIM50GeneProductENSG00000146755 (Ensembl)
TRIM74GeneProductENSG00000155428 (Ensembl)
TYW1BGeneProductENSG00000277149 (Ensembl)
UBE2E1GeneProductENSG00000170142 (Ensembl)
UBE2E3GeneProductENSG00000170035 (Ensembl)
UBE2L6GeneProductENSG00000156587 (Ensembl)
ULK1GeneProductENSG00000177169 (Ensembl)
VPS37DGeneProductENSG00000176428 (Ensembl)
WNT2GeneProductENSG00000105989 (Ensembl)
Wnt SignalingPathwayWP428 (WikiPathways)
ZC3H12AGeneProductENSG00000163874 (Ensembl)
cytidine 5'-monophosphate(1−) residueMetabolite82748 (ChEBI)
pyruvateMetabolite15361 (ChEBI)
rRNAMetaboliteCHEBI:18111 (ChEBI)
rapamycinMetaboliteCHEBI:9168 (ChEBI)
synaptonemal complexComplex

Annotated Interactions

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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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