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

From WikiPathways

Jump to: navigation, search
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.

Quality Tags

Ontology Terms

 

Bibliography

View all...
  1. Heissenberger C, Liendl L, Nagelreiter F, Gonskikh Y, Yang G, Stelzer EM, Krammer TL, Micutkova L, Vogt S, Kreil DP, Sekot G, Siena E, Poser I, Harreither E, Linder A, Ehret V, Helbich TH, Grillari-Voglauer R, Jansen-Dürr P, Koš M, Polacek N, Grillari J, Schosserer M; ''Loss of the ribosomal RNA methyltransferase NSUN5 impairs global protein synthesis and normal growth.''; Nucleic Acids Res, 2019 PubMed Europe PMC Scholia
  2. Crackower MA, Kolas NK, Noguchi J, Sarao R, Kikuchi K, Kaneko H, Kobayashi E, Kawai Y, Kozieradzki I, Landers R, Mo R, Hui CC, Nieves E, Cohen PE, Osborne LR, Wada T, Kunieda T, Moens PB, Penninger JM; ''Essential role of Fkbp6 in male fertility and homologous chromosome pairing in meiosis.''; Science, 2003 PubMed Europe PMC Scholia
  3. Janin M, Ortiz-Barahona V, de Moura MC, Martínez-Cardús A, Llinàs-Arias P, Soler M, Nachmani D, Pelletier J, Schumann U, Calleja-Cervantes ME, Moran S, Guil S, Bueno-Costa A, Piñeyro D, Perez-Salvia M, Rosselló-Tortella M, Piqué L, Bech-Serra JJ, De La Torre C, Vidal A, Martínez-Iniesta M, Martín-Tejera JF, Villanueva A, Arias A, Cuartas I, Aransay AM, La Madrid AM, Carcaboso AM, Santa-Maria V, Mora J, Fernandez AF, Fraga MF, Aldecoa I, Pedrosa L, Graus F, Vidal N, Martínez-Soler F, Tortosa A, Carrato C, Balañá C, Boudreau MW, Hergenrother PJ, Kötter P, Entian KD, Hench J, Frank S, Mansouri S, Zadeh G, Dans PD, Orozco M, Thomas G, Blanco S, Seoane J, Preiss T, Pandolfi PP, Esteller M; ''Epigenetic loss of RNA-methyltransferase NSUN5 in glioma targets ribosomes to drive a stress adaptive translational program.''; Acta Neuropathol, 2019 PubMed Europe PMC Scholia
  4. Jarczowski F, Jahreis G, Erdmann F, Schierhorn A, Fischer G, Edlich F; ''FKBP36 is an inherent multifunctional glyceraldehyde-3-phosphate dehydrogenase inhibitor.''; J Biol Chem, 2009 PubMed Europe PMC Scholia
  5. Cavellán E, Asp P, Percipalle P, Farrants AK; ''The WSTF-SNF2h chromatin remodeling complex interacts with several nuclear proteins in transcription.''; J Biol Chem, 2006 PubMed Europe PMC Scholia
  6. Fusco C, Micale L, Augello B, Mandriani B, Pellico MT, De Nittis P, Calcagnì A, Monti M, Cozzolino F, Pucci P, Merla G; ''HDAC6 mediates the acetylation of TRIM50.''; Cell Signal, 2014 PubMed Europe PMC Scholia
  7. Fusco C, Mandriani B, Di Rienzo M, Micale L, Malerba N, Cocciadiferro D, Sjøttem E, Augello B, Squeo GM, Pellico MT, Jain A, Johansen T, Fimia GM, Merla G; ''TRIM50 regulates Beclin 1 proautophagic activity.''; Biochim Biophys Acta Mol Cell Res, 2018 PubMed Europe PMC Scholia
  8. Micale L, Fusco C, Augello B, Napolitano LM, Dermitzakis ET, Meroni G, Merla G, Reymond A; ''Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase.''; Eur J Hum Genet, 2008 PubMed Europe PMC Scholia
  9. Poot RA, Bozhenok L, van den Berg DL, Steffensen S, Ferreira F, Grimaldi M, Gilbert N, Ferreira J, Varga-Weisz PD; ''The Williams syndrome transcription factor interacts with PCNA to target chromatin remodelling by ISWI to replication foci.''; Nat Cell Biol, 2004 PubMed Europe PMC Scholia
  10. Chailangkarn T, Trujillo CA, Freitas BC, Hrvoj-Mihic B, Herai RH, Yu DX, Brown TT, Marchetto MC, Bardy C, McHenry L, Stefanacci L, Järvinen A, Searcy YM, DeWitt M, Wong W, Lai P, Ard MC, Hanson KL, Romero S, Jacobs B, Dale AM, Dai L, Korenberg JR, Gage FH, Bellugi U, Halgren E, Semendeferi K, Muotri AR; ''A human neurodevelopmental model for Williams syndrome.''; Nature, 2016 PubMed Europe PMC Scholia
  11. Rex EB, Shukla N, Gu S, Bredt D, DiSepio D; ''A Genome-Wide Arrayed cDNA Screen to Identify Functional Modulators of α7 Nicotinic Acetylcholine Receptors.''; SLAS Discov, 2017 PubMed Europe PMC Scholia
  12. Jarczowski F, Fischer G, Edlich F; ''FKBP36 forms complexes with clathrin and Hsp72 in spermatocytes.''; Biochemistry, 2008 PubMed Europe PMC Scholia
  13. Funakoshi T, Maeshima K, Yahata K, Sugano S, Imamoto F, Imamoto N; ''Two distinct human POM121 genes: requirement for the formation of nuclear pore complexes.''; FEBS Lett, 2007 PubMed Europe PMC Scholia
  14. Yan J, Seibenhener ML, Calderilla-Barbosa L, Diaz-Meco MT, Moscat J, Jiang J, Wooten MW, Wooten MC; ''SQSTM1/p62 interacts with HDAC6 and regulates deacetylase activity.''; PLoS One, 2013 PubMed Europe PMC Scholia
  15. Xiao A, Li H, Shechter D, Ahn SH, Fabrizio LA, Erdjument-Bromage H, Ishibe-Murakami S, Wang B, Tempst P, Hofmann K, Patel DJ, Elledge SJ, Allis CD; ''WSTF regulates the H2A.X DNA damage response via a novel tyrosine kinase activity.''; Nature, 2009 PubMed Europe PMC Scholia
  16. Fusco C, Micale L, Egorov M, Monti M, D'Addetta EV, Augello B, Cozzolino F, Calcagnì A, Fontana A, Polishchuk RS, Didelot G, Reymond A, Pucci P, Merla G; ''The E3-ubiquitin ligase TRIM50 interacts with HDAC6 and p62, and promotes the sequestration and clearance of ubiquitinated proteins into the aggresome.''; PLoS One, 2012 PubMed Europe PMC Scholia
  17. Bodoor K, Shaikh S, Enarson P, Chowdhury S, Salina D, Raharjo WH, Burke B; ''Function and assembly of nuclear pore complex proteins.''; Biochem Cell Biol, 1999 PubMed Europe PMC Scholia
  18. Uehara T, Kage-Nakadai E, Yoshina S, Imae R, Mitani S; ''The Tumor Suppressor BCL7B Functions in the Wnt Signaling Pathway.''; PLoS Genet, 2015 PubMed Europe PMC Scholia

History

View all...
CompareRevisionActionTimeUserComment
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

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)
Personal tools