7q11 23 copy number variation syndrome Gene Set

Dataset WikiPathways Pathways 2024
Category structural or functional annotations
Type pathway
External Link https://www.wikipathways.org/pathways/WP4932.html
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Genes

104 proteins participating in the 7q11 23 copy number variation syndrome pathway from the WikiPathways Pathways 2024 dataset.

Symbol Name
ABHD11 abhydrolase domain containing 11
ACACA acetyl-CoA carboxylase alpha
ACACB acetyl-CoA carboxylase beta
ATF4 activating transcription factor 4
ATP5F1A ATP synthase F1 subunit alpha
ATP5F1B ATP synthase F1 subunit beta
ATP5F1D ATP synthase F1 subunit delta
ATP5F1E ATP synthase F1 subunit epsilon
ATP5MC1 ATP synthase membrane subunit c locus 1
ATP5MC2 ATP synthase membrane subunit c locus 2
ATP5MC3 ATP synthase membrane subunit c locus 3
ATP5PB ATP synthase peripheral stalk-membrane subunit b
ATP5PO ATP synthase peripheral stalk subunit OSCP
ATP6 ATP synthase F0 subunit 6
ATP8 ATP synthase F0 subunit 8
ATPAF1 ATP synthase mitochondrial F1 complex assembly factor 1
ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCL7B B-cell CLL/lymphoma 7B
BECN1 beclin 1, autophagy related
BRD4 bromodomain containing 4
BTK Bruton agammaglobulinemia tyrosine kinase
BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CFL1 cofilin 1 (non-muscle)
CHTF18 CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)
CLASP1 cytoplasmic linker associated protein 1
CLASP2 cytoplasmic linker associated protein 2
CLDN1 claudin 1
CLDN3 claudin 3
CLDN4 claudin 4
CLDN5 claudin 5
CLIP2 CAP-GLY domain containing linker protein 2
CLTC clathrin, heavy chain (Hc)
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
DDX21 DEAD (Asp-Glu-Ala-Asp) box helicase 21
DEK DEK proto-oncogene
DLD dihydrolipoamide dehydrogenase
DLST dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)
DNAJC30 DnaJ (Hsp40) homolog, subfamily C, member 30
EIF2A eukaryotic translation initiation factor 2A, 65kDa
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
EIF4H eukaryotic translation initiation factor 4H
ELN elastin
ERCC6 excision repair cross-complementation group 6
FAS Fas cell surface death receptor
FBLN2 fibulin 2
FBLN5 fibulin 5
FBN1 fibrillin 1
FKBP6 FK506 binding protein 6, 36kDa
FZD9 frizzled class receptor 9
GAPDH glyceraldehyde-3-phosphate dehydrogenase
GRB2 growth factor receptor-bound protein 2
GRIP1 glutamate receptor interacting protein 1
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
H2AX H2A.X variant histone
HDAC2 histone deacetylase 2
HDAC3 histone deacetylase 3
HDAC6 histone deacetylase 6
HMGA1 high mobility group AT-hook 1
HOXC8 homeobox C8
HSPA2 heat shock 70kDa protein 2
LAT2 linker for activation of T cells family, member 2
LIMK1 LIM domain kinase 1
MAPK3 mitogen-activated protein kinase 3
METTL27 methyltransferase like 27
MLXIPL MLX interacting protein-like
MVB12A multivesicular body subunit 12A
MYBBP1A MYB binding protein (P160) 1a
MYC v-myc avian myelocytomatosis viral oncogene homolog
MYO1C myosin IC
NRG1 neuregulin 1
NUP62 nucleoporin 62kDa
OGDH oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)
PCNA proliferating cell nuclear antigen
PKLR pyruvate kinase, liver and RBC
PRKG1 protein kinase, cGMP-dependent, type I
RB1 retinoblastoma 1
RFC2 replication factor C (activator 1) 2, 40kDa
RFC5 replication factor C (activator 1) 5, 36.5kDa
SF3B1 splicing factor 3b, subunit 1, 155kDa
SMARCA5 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5
SNAP25 synaptosomal-associated protein, 25kDa
SQSTM1 sequestosome 1
STX1A syntaxin 1A (brain)
TBL2 transducin (beta)-like 2
TMEM270 transmembrane protein 270
TRIM50 tripartite motif containing 50
TSG101 tumor susceptibility 101
UBE2E1 ubiquitin-conjugating enzyme E2E 1
UBE2E3 ubiquitin-conjugating enzyme E2E 3
UBE2L6 ubiquitin-conjugating enzyme E2L 6
UBIAD1 UbiA prenyltransferase domain containing 1
ULK1 unc-51 like autophagy activating kinase 1
USF1 upstream transcription factor 1
VAMP2 vesicle-associated membrane protein 2 (synaptobrevin 2)
VPS28 vacuolar protein sorting 28 homolog (S. cerevisiae)
VPS37A vacuolar protein sorting 37 homolog A (S. cerevisiae)
VPS37B vacuolar protein sorting 37 homolog B (S. cerevisiae)
VPS37C vacuolar protein sorting 37 homolog C (S. cerevisiae)
VPS37D vacuolar protein sorting 37 homolog D (S. cerevisiae)
VPS9D1 VPS9 domain containing 1
WNT2 wingless-type MMTV integration site family member 2