1p36 copy number variation syndrome Gene Set

Dataset WikiPathways Pathways 2024
Category structural or functional annotations
Type pathway
External Link https://www.wikipathways.org/pathways/WP5345.html
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Genes

102 proteins participating in the 1p36 copy number variation syndrome pathway from the WikiPathways Pathways 2024 dataset.

Symbol Name
ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3
AGRN agrin
ANKRD65 ankyrin repeat domain 65
ARF6 ADP-ribosylation factor 6
ATAD3A ATPase family, AAA domain containing 3A
ATAD3B ATPase family, AAA domain containing 3B
ATAD3C ATPase family, AAA domain containing 3C
AURKAIP1 aurora kinase A interacting protein 1
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
BTLA B and T lymphocyte associated
C1ORF159 chromosome 1 open reading frame 159
C1QTNF12 C1q and TNF related 12
CALML6 calmodulin-like 6
CCNL2 cyclin L2
CD160 CD160 molecule
CDK11A cyclin-dependent kinase 11A
CDK11B cyclin-dependent kinase 11B
CFAP74 cilia and flagella associated protein 74
COMMD1 copper metabolism (Murr1) domain containing 1
CPTP ceramide-1-phosphate transfer protein
CUL3 cullin 3
DKK3 dickkopf WNT signaling pathway inhibitor 3
DLL1 delta-like 1 (Drosophila)
DLST dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)
DVL1 dishevelled segment polarity protein 1
ELAVL1 ELAV like RNA binding protein 1
ESR1 estrogen receptor 1
FAAP20 FA core complex associated protein 20
FNDC10 fibronectin type III domain containing 10
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GDE1 glycerophosphodiester phosphodiesterase 1
GNB1 guanine nucleotide binding protein (G protein), beta polypeptide 1
GRIK2 glutamate receptor, ionotropic, kainate 2
HES4 hes family bHLH transcription factor 4
HES5 hes family bHLH transcription factor 5
HSPA8 heat shock 70kDa protein 8
IFIH1 interferon induced with helicase C domain 1
IFIT1 interferon-induced protein with tetratricopeptide repeats 1
INTS10 integrator complex subunit 10
INTS11 integrator complex subunit 11
INTS13 integrator complex subunit 13
INTS14 integrator complex subunit 14
INTS4 integrator complex subunit 4
INTS9 integrator complex subunit 9
ISG15 ISG15 ubiquitin-like modifier
KLHL17 kelch-like family member 17
KRT17 keratin 17, type I
LRP4 low density lipoprotein receptor-related protein 4
MCM2 minichromosome maintenance complex component 2
MEPCE methylphosphate capping enzyme
METTL14 methyltransferase like 14
MIB2 mindbomb E3 ubiquitin protein ligase 2
MMP23B matrix metallopeptidase 23B
MORN1 MORN repeat containing 1
MRPL20 mitochondrial ribosomal protein L20
MUSK muscle, skeletal, receptor tyrosine kinase
MXRA8 matrix-remodelling associated 8
NADK NAD kinase
NOC2L nucleolar complex associated 2 homolog (S. cerevisiae)
OR4F16 olfactory receptor, family 4, subfamily F, member 16
OR4F29 olfactory receptor, family 4, subfamily F, member 29
OR4F5 olfactory receptor, family 4, subfamily F, member 5
PANK4 pantothenate kinase 4
PARD6B par-6 family cell polarity regulator beta
PERM1 PPARGC1 and ESRR induced regulator, muscle 1
PEX10 peroxisomal biogenesis factor 10
PEX12 peroxisomal biogenesis factor 12
PEX2 peroxisomal biogenesis factor 2
PEX5 peroxisomal biogenesis factor 5
PHKG2 phosphorylase kinase, gamma 2 (testis)
PLCH2 phospholipase C, eta 2
PLEKHN1 pleckstrin homology domain containing, family N member 1
PRKCZ protein kinase C, zeta
PUSL1 pseudouridylate synthase-like 1
RBX1 ring-box 1, E3 ubiquitin protein ligase
RER1 retention in endoplasmic reticulum sorting receptor 1
RNF223 ring finger protein 223
SAMD11 sterile alpha motif domain containing 11
SCNN1D sodium channel, non voltage gated 1 delta subunit
SDF4 stromal cell derived factor 4
SKI SKI proto-oncogene
SLC35E2B solute carrier family 35, member E2B
SMAD2 SMAD family member 2
SMAD3 SMAD family member 3
SMAD4 SMAD family member 4
SSU72 SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae)
TAS1R3 taste receptor, type 1, member 3
TGFB1 transforming growth factor, beta 1
TMEM52 transmembrane protein 52
TMEM88B transmembrane protein 88B
TNFRSF14 tumor necrosis factor receptor superfamily, member 14
TNFRSF18 tumor necrosis factor receptor superfamily, member 18
TNFRSF4 tumor necrosis factor receptor superfamily, member 4
TNFSF18 tumor necrosis factor (ligand) superfamily, member 18
TNFSF4 tumor necrosis factor (ligand) superfamily, member 4
TRAF2 TNF receptor-associated factor 2
TRAF5 TNF receptor-associated factor 5
TRIM25 tripartite motif containing 25
UBE2J2 ubiquitin-conjugating enzyme E2, J2
VEGFA vascular endothelial growth factor A
VTN vitronectin
VWA1 von Willebrand factor A domain containing 1