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

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1628432219, 2018, 2139583464, 49163325415, 11, 54611050488475917, 27, 3815, 49, 571323263748394823601343301256445236619142350511058453543342440, 42551032744Neurotransmitter release mechanism in synapsismethyl-transferaseactivityno specific functionsknownsynaptic plasticityheart developmentInvolved in histone methylationDNA replicationlinks microtubules to dendritic lamellar bodycytosol organizationdendrite phenotypedevelopmentimportant for embryonic development, especialyof cranio-facial featuresChromosome 7:72,744,454unknown functiontranslocationclearance of ubiquitinated proteins in the aggreasomechaperone functionBrain development29PCNAHDAC2DNAJC30ATP5MC2FBLN2CLDN5ABHD11-AS1CLDN1MIR590EIF4HEIF2AATP6ERCC6FKBP6STX1AVAMP2RNU6-1080PPKLRGRIP1FBN1DDX21 ELN-AS1rapamycinHSPA2N7-methylguanosine 5'-phosphate residueATPAF1ATP5MC1SMARCA5RNU6-1198PTCA cycleCHTF18ATP5A1UBE2E1ATP5OCDKN1CBAZ1BBTKSNARE complexLipogenesisCl-ATP5ErRNANRG1DLDCLDN3NUP62Elastic fibre formationhsa-mir-4284GAPDHguanosine 5'-monophosphate residueFBLN5RFC5STX1AVPS37DMYO1CglucoseATP5DRNU6-1070PTBL2RN7SL265PMYCATP5PBRFC2CLASP1Botulinum neurotoxin type CS-adenosyl-L-homocysteineCLIP2SNAP25VPS9D1WNT2STAG3L2CLASP2LIMK1CFL1MLXIPLEIF2AK3ELNSerotoninEndosomal buddingMETTL27S-adenosyl-L-methionineHOXC8AcetylcholineB-WICH chromatin remodelling complexMYBBP1AFASDEKBUD23GlutamateClostridium enterotoxinOGDHUBE2E3RB1NorepinephrineBECN1CLDN4HDAC3ULK1ER stressHMGA1MAPK3CTNNB1USF1PRKG1Eukaryotic Translation InitiationHDAC6TSG101RNA5SP233ATP5BBCL7BMVB12AWnt Signalingsynaptonemal complexPCNAABHD11ACACAGABATight junctions CLTCGTF2IRD1BAZ1BDopamineSF3B1ATF4TMEM270TRIM50GTF2ISQSTM1ATP8DLSTESCRT-I complexOxoglutarate dehydrogenase complexFK506LAT2UBE2L6ATPFZD9H2AXBRD4L-tyrosine residueGRB2ATP synthase F0 and F1 complexATPAF2ATP5MC3UBIAD1ACACBB Cell Receptor Signaling PathwayChromosome 7:74,142,513RNA genephosphorylated statepseudo geneubiquitinated stateBECN1UBECN1U3945TRIM50TRIM502626Schizophrenia risk geneFKBP6ADP L-tyrosine-O-phosphate(2−) residue44H2AX442828Apoptosis28EIF2A23ATF4FASACACAACACBPKLR5, 11, 545, 11, 545, 11, 54VPS28VPS37AVPS37BVPS37CVPS37DVirus budding5050NorepinephrineGABASerotoninDopamineGlutamateAcetylcholine60Cl-LAT234


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 (GRCh37/hg19). The breakpoint is defined from Carolyn B Mervis 7q11.23 Duplication Syndrome in Gene Reviews PMID: 20301295.

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Bibliography

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History

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CompareRevisionActionTimeUserComment
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)
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 Cell Receptor Signaling PathwayPathwayWP23 (WikiPathways)
B-WICH chromatin remodelling complexComplexCPX-1099 (Other)
BAZ1BGeneProductENSG00000009954 (Ensembl)
BAZ1BGeneProductQ9UIG0 (Uniprot-TrEMBL)
BCL7BGeneProductENSG00000106635 (Ensembl)
BECN1GeneProductENSG00000126581 (Ensembl)
BRD4GeneProductENSG00000141867 (Ensembl)
BTKGeneProductENSG00000010671 (Ensembl)
BUD23GeneProductENSG00000071462 (Ensembl)
Botulinum neurotoxin type CProteinP18640 (Uniprot-TrEMBL)
CDKN1CGeneProductENSG00000129757 (Ensembl)
CFL1GeneProductENSG00000172757 (Ensembl)
CHTF18GeneProductENSG00000127586 (Ensembl)
CLASP1GeneProductENSG00000074054 (Ensembl)
CLASP2GeneProductENSG00000163539 (Ensembl)
CLDN1GeneProductENSG00000163347 (Ensembl)
CLDN3GeneProductENSG00000165215 (Ensembl)
CLDN4GeneProductENSG00000189143 (Ensembl)
CLDN5GeneProductENSG00000184113 (Ensembl)
CLIP2GeneProductENSG00000106665 (Ensembl)
CLTCGeneProductENSG00000141367 (Ensembl)
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
EIF4HGeneProductENSG00000106682 (Ensembl)
ELN-AS1GeneProductENSG00000232415 (Ensembl)
ELNGeneProductENSG00000049540 (Ensembl)
ER stressPathwayWP4861 (WikiPathways)
ERCC6GeneProductQ03468 (Uniprot-TrEMBL)
ESCRT-I complexComplexESCRT-I (Ensembl)
Elastic fibre formationPathwayWP2666 (WikiPathways)
Endosomal buddingPathway
Eukaryotic Translation InitiationPathwayWP1812 (WikiPathways)
FASGeneProductENSG00000026103 (Ensembl)
FBLN2GeneProductENSG00000163520 (Ensembl)
FBLN5GeneProductENSG00000140092 (Ensembl)
FBN1GeneProductENSG00000166147 (Ensembl)
FK506MetaboliteCHEBI:61049 (ChEBI)
FKBP6GeneProductENSG00000077800 (Ensembl)
FZD9GeneProductENSG00000188763 (Ensembl)
GABAMetabolite16865 (ChEBI)
GAPDHGeneProductENSG00000111640 (Ensembl)
GRB2GeneProductENSG00000177885 (Ensembl)
GRIP1GeneProductENSG00000155974 (Ensembl)
GTF2IGeneProductENSG00000263001 (Ensembl)
GTF2IRD1GeneProductENSG00000006704 (Ensembl)
GlutamateMetaboliteCHEBI:14321 (ChEBI)
H2AXProteinP16104 (Uniprot-TrEMBL)
HDAC2GeneProductENSG00000196591 (Ensembl)
HDAC3GeneProductENSG00000171720 (Ensembl)
HDAC6GeneProductENSG00000094631 (Ensembl)
HMGA1GeneProductENSG00000137309 (Ensembl)
HOXC8GeneProductENSG00000037965 (Ensembl)
HSPA2GeneProductENSG00000126803 (Ensembl)
L-tyrosine residueMetabolite46858 (ChEBI)
LAT2GeneProductENSG00000086730 (Ensembl)
LIMK1GeneProductENSG00000106683 (Ensembl)
LipogenesisPathwayWP3965 (WikiPathways)
MAPK3GeneProductENSG00000102882 (Ensembl)
METTL27GeneProductENSG00000165171 (Ensembl)
MIR590GeneProductENSG00000207741 (Ensembl)
MLXIPLGeneProductENSG00000009950 (Ensembl) ChREBP
MVB12AGeneProductENSG00000141971 (Ensembl)
MYBBP1AGeneProductQ9BQG0 (Uniprot-TrEMBL)
MYCGeneProductENSG00000136997 (Ensembl)
MYO1CGeneProductO00159 (Uniprot-TrEMBL)
N7-methylguanosine 5'-phosphate residueMetabolite74480 (ChEBI)
NRG1GeneProductENSG00000157168 (Ensembl)
NUP62GeneProductENSG00000213024 (Ensembl)
NorepinephrineMetaboliteCHEBI:18357 (ChEBI)
OGDHGeneProductENSG00000105953 (Ensembl)
Oxoglutarate dehydrogenase complexComplex
PCNAGeneProductENSG00000132646 (Ensembl)
PKLRGeneProductENSG00000143627 (Ensembl)
PRKG1GeneProductENSG00000185532 (Ensembl)
RB1GeneProductENSG00000139687 (Ensembl)
RFC2GeneProductENSG00000049541 (Ensembl)
RFC5GeneProductENSG00000111445 (Ensembl)
RN7SL265PGeneProductENSG00000241709 (Ensembl)
RNA5SP233GeneProductENSG00000238391 (Ensembl)
RNU6-1070PGeneProductENSG00000252538 (Ensembl)
RNU6-1080PGeneProductENSG00000206709 (Ensembl)
RNU6-1198PGeneProductENSG00000252713 (Ensembl)
S-adenosyl-L-homocysteineMetabolite16680 (ChEBI)
S-adenosyl-L-methionineMetabolite15414 (ChEBI)
SF3B1GeneProductO75533 (Uniprot-TrEMBL)
SMARCA5GeneProductO60264 (Uniprot-TrEMBL)
SNAP25GeneProductENSG00000132639 (Ensembl)
SNARE complexComplex
SQSTM1GeneProductENSG00000161011 (Ensembl)
STAG3L2GeneProductENSG00000277072 (Ensembl)
STX1AGeneProductENSG00000106089 (Ensembl)
SerotoninMetaboliteCHEBI:28790 (ChEBI)
TBL2GeneProductENSG00000106638 (Ensembl)
TCA cyclePathwayWP78 (WikiPathways)
TMEM270GeneProductENSG00000175877 (Ensembl)
TRIM50GeneProductENSG00000146755 (Ensembl)
TSG101GeneProductENSG00000074319 (Ensembl) VPS23
Tight junctions PathwayWP1793 (WikiPathways)
UBE2E1GeneProductENSG00000170142 (Ensembl)
UBE2E3GeneProductENSG00000170035 (Ensembl)
UBE2L6GeneProductENSG00000156587 (Ensembl)
UBIAD1GeneProductENSG00000120942 (Ensembl) TERE1
ULK1GeneProductENSG00000177169 (Ensembl)
USF1GeneProductENSG00000158773 (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)
glucoseMetaboliteCHEBI:17234 (ChEBI)
guanosine 5'-monophosphate residueMetabolite50324 (ChEBI)
hsa-mir-4284GeneProductMI0015893 (miRBase Sequence)
rRNAMetaboliteCHEBI:18111 (ChEBI)
rapamycinMetaboliteCHEBI:9168 (ChEBI)
synaptonemal complexComplex

Annotated Interactions

SourceTargetTypeDatabase referenceComment
ATPADPmim-conversion10596 (Rhea)
L-tyrosine residue L-tyrosine-O-phosphate(2−) residuemim-conversion10596 (Rhea)
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