7q11.23 copy number variation syndrome (WP4932)

Homo sapiens

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.


Friederike Ehrhart and Egon Willighagen


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Homo sapiens


Rare Diseases


Disease Ontology

genetic disease Williams-Beuren syndrome

Pathway Ontology

disease pathway


Label Type Compact URI Comment
rRNA Metabolite chebi:18111
S-adenosyl-L-homocysteine Metabolite chebi:16680
ATP Metabolite chebi:30616
Norepinephrine Metabolite chebi:18357
GABA Metabolite chebi:16865
L-tyrosine residue Metabolite chebi:46858
Serotonin Metabolite chebi:28790
FK506 Metabolite chebi:61049
S-adenosyl-L-methionine Metabolite chebi:15414
N7-methylguanosine 5'-phosphate residue Metabolite chebi:74480
guanosine 5'-monophosphate residue Metabolite chebi:50324
rapamycin Metabolite chebi:9168
Dopamine Metabolite chebi:18243
Cl- Metabolite chebi:17996
Glutamate Metabolite chebi:14321
Acetylcholine Metabolite chebi:15355
glucose Metabolite chebi:17234
ADP Metabolite chebi:456216
L-tyrosine-O-phosphate(2−) residue Metabolite chebi:82620
Norepinephrine Metabolite chebi:18357
GABA Metabolite chebi:16865
Serotonin Metabolite chebi:28790
Dopamine Metabolite chebi:18243
Glutamate Metabolite chebi:14321
Acetylcholine Metabolite chebi:15355
Cl- Metabolite chebi:17996
RNU6-1198P GeneProduct ensembl:ENSG00000252713
hsa-mir-4284 GeneProduct mirbase:MI0015893
RN7SL265P GeneProduct ensembl:ENSG00000241709
ABHD11-AS1 GeneProduct ensembl:ENSG00000225969
ELN-AS1 GeneProduct ensembl:ENSG00000232415
MYO1C GeneProduct uniprot:O00159
ERCC6 GeneProduct uniprot:Q03468
DEK GeneProduct uniprot:P35659
SMARCA5 GeneProduct uniprot:O60264
DDX21 GeneProduct uniprot:Q9NR30
MYBBP1A GeneProduct uniprot:Q9BQG0
SF3B1 GeneProduct uniprot:O75533
BAZ1B GeneProduct uniprot:Q9UIG0
ATP5A1 GeneProduct ensembl:ENSG00000152234
ATPAF2 GeneProduct ensembl:ENSG00000171953
ATP5B GeneProduct ensembl:ENSG00000110955
ATPAF1 GeneProduct ensembl:ENSG00000123472
VPS9D1 GeneProduct ensembl:ENSG00000075399 C16orf7
ATP5D GeneProduct ensembl:ENSG00000099624
ATP5E GeneProduct ensembl:ENSG00000124172
ATP5O GeneProduct ensembl:ENSG00000241837
ATP6 GeneProduct ensembl:ENSG00000198899 MT-ATP6
ATP8 GeneProduct ensembl:ENSG00000228253 MT-ATP8
ATP5PB GeneProduct ensembl:ENSG00000116459 ATP5F1
ATP5MC1 GeneProduct ensembl:ENSG00000159199 ATP5G1
ATP5MC2 GeneProduct ensembl:ENSG00000135390 ATP5G2
ATP5MC3 GeneProduct ensembl:ENSG00000154518 ATP5G3
MIR590 GeneProduct ensembl:ENSG00000207741
RNU6-1070P GeneProduct ensembl:ENSG00000252538
RNA5SP233 GeneProduct ensembl:ENSG00000238391
FBLN5 GeneProduct ensembl:ENSG00000140092
GTF2I GeneProduct ensembl:ENSG00000263001
MAPK3 GeneProduct ensembl:ENSG00000102882
HDAC2 GeneProduct ensembl:ENSG00000196591
ATF4 GeneProduct ensembl:ENSG00000128272
CLDN4 GeneProduct ensembl:ENSG00000189143
TBL2 GeneProduct ensembl:ENSG00000106638
RNU6-1080P GeneProduct ensembl:ENSG00000206709
UBE2E1 GeneProduct ensembl:ENSG00000170142
LIMK1 GeneProduct ensembl:ENSG00000106683
CLTC GeneProduct ensembl:ENSG00000141367
USF1 GeneProduct ensembl:ENSG00000158773
BAZ1B GeneProduct ensembl:ENSG00000009954
NRG1 GeneProduct ensembl:ENSG00000157168
TRIM50 GeneProduct ensembl:ENSG00000146755
TMEM270 GeneProduct ensembl:ENSG00000175877
ABHD11 GeneProduct ensembl:ENSG00000106077
STAG3L2 GeneProduct ensembl:ENSG00000277072
SQSTM1 GeneProduct ensembl:ENSG00000161011
EIF4H GeneProduct ensembl:ENSG00000106682
WNT2 GeneProduct ensembl:ENSG00000105989
FZD9 GeneProduct ensembl:ENSG00000188763
RFC2 GeneProduct ensembl:ENSG00000049541
CLIP2 GeneProduct ensembl:ENSG00000106665
RB1 GeneProduct ensembl:ENSG00000139687
CTNNB1 GeneProduct ensembl:ENSG00000168036
NUP62 GeneProduct ensembl:ENSG00000213024
TSG101 GeneProduct ensembl:ENSG00000074319 VPS23
HSPA2 GeneProduct ensembl:ENSG00000126803
SNAP25 GeneProduct ensembl:ENSG00000132639
HOXC8 GeneProduct ensembl:ENSG00000037965
METTL27 GeneProduct ensembl:ENSG00000165171
BCL7B GeneProduct ensembl:ENSG00000106635
DLD GeneProduct ensembl:ENSG00000091140
CLASP1 GeneProduct ensembl:ENSG00000074054
FBLN2 GeneProduct ensembl:ENSG00000163520
UBE2L6 GeneProduct ensembl:ENSG00000156587
MLXIPL GeneProduct ensembl:ENSG00000009950 ChREBP
CLDN3 GeneProduct ensembl:ENSG00000165215
GAPDH GeneProduct ensembl:ENSG00000111640
PCNA GeneProduct ensembl:ENSG00000132646
MVB12A GeneProduct ensembl:ENSG00000141971
PRKG1 GeneProduct ensembl:ENSG00000185532
GRIP1 GeneProduct ensembl:ENSG00000155974
CLDN5 GeneProduct ensembl:ENSG00000184113
UBIAD1 GeneProduct ensembl:ENSG00000120942 TERE1
VPS37D GeneProduct ensembl:ENSG00000176428
DLST GeneProduct ensembl:ENSG00000119689
STX1A GeneProduct ensembl:ENSG00000106089
ULK1 GeneProduct ensembl:ENSG00000177169
OGDH GeneProduct ensembl:ENSG00000105953
HDAC6 GeneProduct ensembl:ENSG00000094631
VAMP2 GeneProduct ensembl:ENSG00000220205
DNAJC30 GeneProduct ensembl:ENSG00000176410
RFC5 GeneProduct ensembl:ENSG00000111445
CDKN1C GeneProduct ensembl:ENSG00000129757
CLASP2 GeneProduct ensembl:ENSG00000163539
BUD23 GeneProduct ensembl:ENSG00000071462
GTF2IRD1 GeneProduct ensembl:ENSG00000006704
FBN1 GeneProduct ensembl:ENSG00000166147
BTK GeneProduct ensembl:ENSG00000010671
MYC GeneProduct ensembl:ENSG00000136997
BRD4 GeneProduct ensembl:ENSG00000141867
EIF2A GeneProduct ensembl:ENSG00000144895
HMGA1 GeneProduct ensembl:ENSG00000137309
FKBP6 GeneProduct ensembl:ENSG00000077800
STX1A GeneProduct ensembl:ENSG00000106089
BECN1 GeneProduct ensembl:ENSG00000126581
CFL1 GeneProduct ensembl:ENSG00000172757
CHTF18 GeneProduct ensembl:ENSG00000127586
EIF2AK3 GeneProduct ensembl:ENSG00000172071 PERK
LAT2 GeneProduct ensembl:ENSG00000086730
HDAC3 GeneProduct ensembl:ENSG00000171720
CLDN1 GeneProduct ensembl:ENSG00000163347
GRB2 GeneProduct ensembl:ENSG00000177885
ELN GeneProduct ensembl:ENSG00000049540
PCNA GeneProduct ensembl:ENSG00000132646
UBE2E3 GeneProduct ensembl:ENSG00000170035
BECN1 GeneProduct ensembl:ENSG00000126581
BECN1 GeneProduct ensembl:ENSG00000126581
TRIM50 GeneProduct ensembl:ENSG00000146755
TRIM50 GeneProduct ensembl:ENSG00000146755
FKBP6 GeneProduct ensembl:ENSG00000077800
EIF2A GeneProduct ensembl:ENSG00000144895
FAS GeneProduct ensembl:ENSG00000026103
ACACA GeneProduct ensembl:ENSG00000278540
ACACB GeneProduct ensembl:ENSG00000076555
PKLR GeneProduct ensembl:ENSG00000143627
VPS28 GeneProduct ensembl:ENSG00000160948 VPS23
VPS37A GeneProduct ensembl:ENSG00000155975 VPS23
VPS37B GeneProduct ensembl:ENSG00000139722 VPS23
VPS37C GeneProduct ensembl:ENSG00000167987 VPS23
VPS37D GeneProduct ensembl:ENSG00000176428
LAT2 GeneProduct ensembl:ENSG00000086730
FAS Protein ensembl:ENSG00000026103
ACACA Protein ensembl:ENSG00000278540
Botulinum neurotoxin type C Protein uniprot:P18640
Clostridium enterotoxin Protein pfam:PF03505
H2AX Protein uniprot:P16104
ACACB Protein ensembl:ENSG00000076555
PKLR Protein ensembl:ENSG00000143627
H2AX Protein uniprot:P16104
ATF4 Protein ensembl:ENSG00000128272


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