Williams-Beuren region duplication syndrome (Homo sapiens)

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1, 2Chromosome 7:72,744,454POM121BRNU6-1198PMIR4284TRIM74N1-methylguanosine 5'-monophosphate(1−) residueBUD23NSUN5STAG3L3BCL7BH2OSPDYE8FZD9TMEM270SPDYE10PABHD11-AS1CO2STX1ApyruvateGTF2IRD2P1PHBP5BAZ1BTBL2ELN-AS1POM121PMS2P6NSUN5P2RNU6-1080PSBDSP1Nuclear pore complexMLXIPLELNSPDYE9S-adenosyl-L-methionine zwitterionFKBP6SPDYE11NCF1B5'-deoxyadenosineRN7SL377PLIMK1DNAJC30METTL27CLDN4L-methionine zwitterionTYW1BCLDN3TRIM50SPDYE7PABHD11VPS37D4-demethylwyosine 5'-monophosphate(1−) residueGTF2IP4PMS2P7RN7SL625PRN7SL265PChromosome 7:74,142,513RNA genephosphorylated statepseudo geneAKT1HIF1AUubiquitinated state


Description

Williams-Beuren region duplication syndrome (MIM 609757, also called 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

  1. 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
  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

History

View all...
CompareRevisionActionTimeUserComment
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
4-demethylwyosine 5'- monophosphate(1−) residueMetabolite64315 (ChEBI)
5'-deoxyadenosineMetaboliteCHEBI:17319 (ChEBI)
ABHD11-AS1GeneProductENSG00000225969 (Ensembl)
ABHD11GeneProductENSG00000106077 (Ensembl)
AKT1GeneProductENSG00000142208 (Ensembl)
BAZ1BGeneProductENSG00000009954 (Ensembl)
BCL7BGeneProductENSG00000106635 (Ensembl)
BUD23GeneProductENSG00000071462 (Ensembl)
CLDN3GeneProductENSG00000165215 (Ensembl)
CLDN4GeneProductENSG00000189143 (Ensembl)
CO2MetaboliteCHEBI:16526 (ChEBI)
DNAJC30GeneProductENSG00000176410 (Ensembl)
ELN-AS1GeneProductENSG00000232415 (Ensembl)
ELNGeneProductENSG00000049540 (Ensembl)
FKBP6GeneProductENSG00000077800 (Ensembl)
FZD9GeneProductENSG00000188763 (Ensembl)
GTF2IP4GeneProductENSG00000233369 (Ensembl)
GTF2IRD2P1GeneProductENSG00000214544 (Ensembl)
H2OMetaboliteCHEBI:15377 (ChEBI)
HIF1AGeneProductENSG00000100644 (Ensembl)
L-methionine zwitterionMetabolite57844 (ChEBI)
LIMK1GeneProductENSG00000106683 (Ensembl)
METTL27GeneProductENSG00000165171 (Ensembl)
MIR4284GeneProductENSG00000265724 (Ensembl)
MLXIPLGeneProductENSG00000009950 (Ensembl)
N1-methylguanosine

5'-monophosphate(1−)

residue
Metabolite73542 (ChEBI)
NCF1BGeneProductENSG00000182487 (Ensembl)
NSUN5GeneProductENSG00000130305 (Ensembl)
NSUN5P2GeneProductENSG00000106133 (Ensembl)
Nuclear pore complexComplexCPX-873 (EMBL) Complex Portal
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-methionine zwitterionMetabolite59789 (ChEBI)
SBDSP1GeneProductENSG00000225648 (Ensembl)
SPDYE10PGeneProductENSG00000274570 (Ensembl)
SPDYE11GeneProductENSG00000286228 (Ensembl)
SPDYE7PGeneProductENSG00000179994 (Ensembl)
SPDYE8GeneProductENSG00000273520 (Ensembl)
SPDYE9GeneProductENSG00000262461 (Ensembl)
STAG3L3GeneProductENSG00000174353 (Ensembl)
STX1AGeneProductENSG00000106089 (Ensembl)
TBL2GeneProductENSG00000106638 (Ensembl)
TMEM270GeneProductENSG00000175877 (Ensembl)
TRIM50GeneProductENSG00000146755 (Ensembl)
TRIM74GeneProductENSG00000155428 (Ensembl)
TYW1BGeneProductENSG00000277149 (Ensembl)
VPS37DGeneProductENSG00000176428 (Ensembl)
pyruvateMetabolite15361 (ChEBI)

Annotated Interactions

SourceTargetTypeDatabase referenceComment
mim-conversion36347 (Rhea)
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