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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Ontology Terms

 

Bibliography

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  1. Katahira J, Sugiyama H, Inoue N, Horiguchi Y, Matsuda M, Sugimoto N; ''Clostridium perfringens enterotoxin utilizes two structurally related membrane proteins as functional receptors in vivo.''; J Biol Chem, 1997 PubMed Europe PMC Scholia
  2. 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
  3. Craig TJ, Anderson D, Evans AJ, Girach F, Henley JM; ''SUMOylation of Syntaxin1A regulates presynaptic endocytosis.''; Sci Rep, 2015 PubMed Europe PMC Scholia
  4. Tebbenkamp ATN, Varela L, Choi J, Paredes MI, Giani AM, Song JE, Sestan-Pesa M, Franjic D, Sousa AMM, Liu ZW, Li M, Bichsel C, Koch M, Szigeti-Buck K, Liu F, Li Z, Kawasawa YI, Paspalas CD, Mineur YS, Prontera P, Merla G, Picciotto MR, Arnsten AFT, Horvath TL, Sestan N; ''The 7q11.23 Protein DNAJC30 Interacts with ATP Synthase and Links Mitochondria to Brain Development.''; Cell, 2018 PubMed Europe PMC Scholia
  5. 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
  6. 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
  7. Kawaguchi T, Takenoshita M, Kabashima T, Uyeda K; ''Glucose and cAMP regulate the L-type pyruvate kinase gene by phosphorylation/dephosphorylation of the carbohydrate response element binding protein.''; Proc Natl Acad Sci U S A, 2001 PubMed Europe PMC Scholia
  8. 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
  9. Tsukumo Y, Tsukahara S, Furuno A, Iemura S, Natsume T, Tomida A; ''TBL2 is a novel PERK-binding protein that modulates stress-signaling and cell survival during endoplasmic reticulum stress.''; PLoS One, 2014 PubMed Europe PMC Scholia
  10. Jarczowski F, Fischer G, Edlich F; ''FKBP36 forms complexes with clathrin and Hsp72 in spermatocytes.''; Biochemistry, 2008 PubMed Europe PMC Scholia
  11. Coyne CB, Gambling TM, Boucher RC, Carson JL, Johnson LG; ''Role of claudin interactions in airway tight junctional permeability.''; Am J Physiol Lung Cell Mol Physiol, 2003 PubMed Europe PMC Scholia
  12. 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
  13. 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
  14. Britsch S; ''The neuregulin-I/ErbB signaling systemin development and disease.''; Adv Anat Embryol Cell Biol, 2007 PubMed Europe PMC Scholia
  15. 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
  16. 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
  17. Rodríguez F, Zanetti MN, Mayorga LS, Tomes CN; ''Munc18-1 controls SNARE protein complex assembly during human sperm acrosomal exocytosis.''; J Biol Chem, 2012 PubMed Europe PMC Scholia
  18. 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
  19. 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
  20. Harris HJ, Davis C, Mullins JG, Hu K, Goodall M, Farquhar MJ, Mee CJ, McCaffrey K, Young S, Drummer H, Balfe P, McKeating JA; ''Claudin association with CD81 defines hepatitis C virus entry.''; J Biol Chem, 2010 PubMed Europe PMC Scholia
  21. 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
  22. El-Hallous E, Sasaki T, Hubmacher D, Getie M, Tiedemann K, Brinckmann J, Bätge B, Davis EC, Reinhardt DP; ''Fibrillin-1 interactions with fibulins depend on the first hybrid domain and provide an adaptor function to tropoelastin.''; J Biol Chem, 2007 PubMed Europe PMC Scholia
  23. 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
  24. Iizuka K, Bruick RK, Liang G, Horton JD, Uyeda K; ''Deficiency of carbohydrate response element-binding protein (ChREBP) reduces lipogenesis as well as glycolysis.''; Proc Natl Acad Sci U S A, 2004 PubMed Europe PMC Scholia
  25. Fredericks WJ, McGarvey T, Wang H, Zheng Y, Fredericks NJ, Yin H, Wang LP, Hsiao W, Lee R, Weiss JS, Nickerson ML, Kruth HS, Rauscher FJ 3rd, Malkowicz SB; ''''; , PubMed Europe PMC Scholia
  26. 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
  27. Foletta VC, Lim MA, Soosairajah J, Kelly AP, Stanley EG, Shannon M, He W, Das S, Massague J, Bernard O; ''Direct signaling by the BMP type II receptor via the cytoskeletal regulator LIMK1.''; J Cell Biol, 2003 PubMed Europe PMC Scholia
  28. Ma L, Robinson LN, Towle HC; ''ChREBP*Mlx is the principal mediator of glucose-induced gene expression in the liver.''; J Biol Chem, 2006 PubMed Europe PMC Scholia
  29. Tsukumo Y, Tsukahara S, Furuno A, Iemura S, Natsume T, Tomida A; ''TBL2 Associates With ATF4 mRNA Via Its WD40 Domain and Regulates Its Translation During ER Stress.''; J Cell Biochem, 2016 PubMed Europe PMC Scholia
  30. 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
  31. Wang JY, Frenzel KE, Wen D, Falls DL; ''Transmembrane neuregulins interact with LIM kinase 1, a cytoplasmic protein kinase implicated in development of visuospatial cognition.''; J Biol Chem, 1998 PubMed Europe PMC Scholia
  32. Xu X, So JS, Park JG, Lee AH; ''Transcriptional control of hepatic lipid metabolism by SREBP and ChREBP.''; Semin Liver Dis, 2013 PubMed Europe PMC Scholia
  33. Yokoo T, Toyoshima H, Miura M, Wang Y, Iida KT, Suzuki H, Sone H, Shimano H, Gotoda T, Nishimori S, Tanaka K, Yamada N; ''p57Kip2 regulates actin dynamics by binding and translocating LIM-kinase 1 to the nucleus.''; J Biol Chem, 2003 PubMed Europe PMC Scholia
  34. 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
  35. 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
  36. Zorbas C, Nicolas E, Wacheul L, Huvelle E, Heurgué-Hamard V, Lafontaine DL; ''The human 18S rRNA base methyltransferases DIMT1L and WBSCR22-TRMT112 but not rRNA modification are required for ribosome biogenesis.''; Mol Biol Cell, 2015 PubMed Europe PMC Scholia
  37. Hurley JH, Hanson PI; ''Membrane budding and scission by the ESCRT machinery: it's all in the neck.''; Nat Rev Mol Cell Biol, 2010 PubMed Europe PMC Scholia
  38. Jangani M, Poolman TM, Matthews L, Yang N, Farrow SN, Berry A, Hanley N, Williamson AJ, Whetton AD, Donn R, Ray DW; ''The methyltransferase WBSCR22/Merm1 enhances glucocorticoid receptor function and is regulated in lung inflammation and cancer.''; J Biol Chem, 2014 PubMed Europe PMC Scholia
  39. 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

History

View all...
CompareRevisionActionTimeUserComment
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)
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