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.
Authors
Friederike Ehrhart , Egon Willighagen , and Eric WeitzActivity
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Organisms
Homo sapiensCommunities
Rare DiseasesAnnotations
Disease Ontology
chromosomal duplication syndrome genetic disease Williams-Beuren syndromePathway Ontology
disease pathwayLabel | 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 | |
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 | |
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 | |
UBE2E3 | GeneProduct | ensembl:ENSG00000170035 | |
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 |
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 | |
ATF4 | Protein | ensembl:ENSG00000128272 |
References
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