16p11.2 proximal deletion syndrome (Homo sapiens)
From WikiPathways
Description
16p11.2 proximal deletion syndrome is a rare genetic disorder (copy number variation) caused by a deletion in the region of chromosome 16 from 29,592,751 to 30,190,593 bp (GRCh37). The breakpoints are from: Dell'Edera 2018 PMID: 29609622.
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Ontology Terms
Bibliography
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History
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External references
DataNodes
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Name | Type | Database reference | Comment |
---|---|---|---|
1-(1Z-octadecenyl)-sn-glycero-3-phosphate(2−) | Metabolite | 137017 (ChEBI) ![]() | |
1-(1Z-octadecenyl)-sn-glycero-3-phospho- (N-hexadecanoyl)ethanolamine(1−) | Metabolite | 137009 (ChEBI) ![]() | |
1-hexadecanoyl-sn-glycero-3-phosphocholine | Metabolite | 72998 (ChEBI) ![]() | |
1-hexadecyl-sn-glycero-3-phosphate(2−) | Metabolite | 77580 (ChEBI) ![]() | |
1-oleoyl-sn-glycero-3-phosphate(2−) | Metabolite | 74544 (ChEBI) ![]() | |
1-palmitoyl-sn-glycerol 3-phosphate(2−) | Metabolite | 57518 (ChEBI) ![]() | |
1-phosphatidyl-1D-myo-inositol(1−) | Metabolite | 57880 (ChEBI) ![]() | |
22q11.2 DS pathway | Pathway | WP4657 (WikiPathways) ![]() | |
5-phospho-α-D-ribose 1-diphosphate | Metabolite | 58017 (ChEBI) ![]() | |
ALDOA | GeneProduct | ENSG00000149925 (Ensembl) ![]() | |
ASPHD1 | GeneProduct | ENSG00000174939 (Ensembl) ![]() | |
Actin | GeneProduct | PF00022 (Pfam) ![]() | |
Apoptosis | Pathway | WP254 (WikiPathways) ![]() | |
BPTF | GeneProduct | ENSG00000171634 (Ensembl) ![]() | FAC1 |
CASP8 | GeneProduct | ENSG00000064012 (Ensembl) ![]() | |
CCDC6 | GeneProduct | ENSG00000108091 (Ensembl) ![]() | |
CCT2 | GeneProduct | ENSG00000166226 (Ensembl) ![]() | |
CCT3 | GeneProduct | ENSG00000163468 (Ensembl) ![]() | |
CCT4 | GeneProduct | ENSG00000115484 (Ensembl) ![]() | |
CCT5 | GeneProduct | ENSG00000150753 (Ensembl) ![]() | |
CCT6A | GeneProduct | ENSG00000146731 (Ensembl) ![]() | |
CCT6B | GeneProduct | ENSG00000132141 (Ensembl) ![]() | |
CCT7 | GeneProduct | ENSG00000135624 (Ensembl) ![]() | |
CCT8 | GeneProduct | ENSG00000156261 (Ensembl) ![]() | |
CDIPT | GeneProduct | ENSG00000103502 (Ensembl) ![]() | |
CDP-diacylglycerol(2−) | Metabolite | 58332 (ChEBI) ![]() | |
CO2 | Metabolite | CHEBI:16526 (ChEBI) ![]() | |
CORO1A | GeneProduct | ENSG00000102879 (Ensembl) ![]() | |
Ca2+ | Metabolite | CHEBI:29108 (ChEBI) ![]() | |
Chaperonin-containing T-complex | Complex | CPX-6030 (EMBL) ![]() | Complex Portal |
Clathrin-mediated endocytosis | Pathway | WP4065 (WikiPathways) ![]() | |
D-glyceraldehyde 3-phosphate(2−) | Metabolite | 59776 (ChEBI) ![]() | |
DNA Mismatch Repair | Pathway | WP531 (WikiPathways) ![]() | |
DNA replication | Pathway | WP466 (WikiPathways) ![]() | |
DOC2A | GeneProduct | ENSG00000149927 (Ensembl) ![]() | |
Diacylglycerol | Metabolite | CHEBI:18035 (ChEBI) ![]() | |
ESR1 | GeneProduct | ENSG00000091831 (Ensembl) ![]() | |
EZR | GeneProduct | ENSG00000092820 (Ensembl) ![]() | |
FIMP | GeneProduct | ENSG00000167194 (Ensembl) ![]() | C16orf92 |
GDPD3 | GeneProduct | ENSG00000102886 (Ensembl) ![]() | |
Glucocorticoid receptor pathway | Pathway | WP2880 (WikiPathways) ![]() | |
Glycolysis and Gluconeogenesis | Pathway | WP534 (WikiPathways) ![]() | |
H+ | Metabolite | 15378 (ChEBI) ![]() | |
H2O | Metabolite | 15377 (ChEBI) ![]() | |
HDAC3 | GeneProduct | ENSG00000171720 (Ensembl) ![]() | |
HIRA | GeneProduct | ENSG00000100084 (Ensembl) ![]() | |
HIRIP3 | GeneProduct | ENSG00000149929 (Ensembl) ![]() | |
Histone modifications | Pathway | WP2369 (WikiPathways) ![]() | |
Histone | GeneProduct | PF00125 (Pfam) ![]() | |
IGBP1 | GeneProduct | ENSG00000089289 (Ensembl) ![]() | |
IGFBP3 | GeneProduct | ENSG00000146674 (Ensembl) ![]() | |
INO80 complex | Complex | CPX-846 (EMBL) ![]() | |
INO80E | GeneProduct | ENSG00000169592 (Ensembl) ![]() | |
KCTD13 | GeneProduct | ENSG00000174943 (Ensembl) ![]() | |
KIF22 | GeneProduct | ENSG00000079616 (Ensembl) ![]() | |
KMT2C | GeneProduct | ENSG00000055609 (Ensembl) ![]() | |
KMT2D | GeneProduct | ENSG00000167548 (Ensembl) ![]() | |
MAB21L4 | GeneProduct | ENSG00000185905 (Ensembl) ![]() | C2orf54 |
MAP2K3 | GeneProduct | ENSG00000034152 (Ensembl) ![]() | |
MAP2K6 | GeneProduct | ENSG00000108984 (Ensembl) ![]() | |
MAPK cascade | Pathway | WP422 (WikiPathways) ![]() | |
MAPK3 | GeneProduct | ENSG00000102882 (Ensembl) ![]() | |
MAZ | GeneProduct | ENSG00000103495 (Ensembl) ![]() | |
MSN | GeneProduct | ENSG00000147065 (Ensembl) ![]() | |
MVP | GeneProduct | ENSG00000013364 (Ensembl) ![]() | |
N,1-dioleoyl-sn-glycero- 3-phosphoethanolamine(1−) | Metabolite | 85222 (ChEBI) ![]() | |
N-arachidonoyl-1-oleoyl-sn- glycero-3-phosphoethanolamine(1−) | Metabolite | 85223 (ChEBI) ![]() | |
N-hexadecanoylsphingosine | Metabolite | 72959 (ChEBI) ![]() | |
N-icosanoylsphingosine | Metabolite | 72962 (ChEBI) ![]() | |
N-octadecanoylsphingosine | Metabolite | 72961 (ChEBI) ![]() | |
N-palmitoyl-1-oleoyl-sn-glycero- 3-phosphoethanolamine(1−) | Metabolite | 85217 (ChEBI) ![]() | |
NAD+ biosynthesis | Pathway | WP3645 (WikiPathways) ![]() | |
NFKB1 | GeneProduct | ENSG00000109320 (Ensembl) ![]() | |
NR3C1 | GeneProduct | ENSG00000113580 (Ensembl) ![]() | |
Neurotransmitter release cycle | Pathway | WP1871 (WikiPathways) ![]() | |
Nucleotide Excision Repair | Pathway | 1980 (WikiPathways) ![]() | |
Oncogene Induced Senescence | Pathway | WP3308 (WikiPathways) ![]() | |
PAGR1 | GeneProduct | ENSG00000280789 (Ensembl) ![]() | |
PARP4 | GeneProduct | ENSG00000102699 (Ensembl) ![]() | |
PAXIP1 | GeneProduct | ENSG00000157212 (Ensembl) ![]() | |
PCNA | GeneProduct | ENSG00000132646 (Ensembl) ![]() | |
PPARG | GeneProduct | ENSG00000132170 (Ensembl) ![]() | |
PPP2CA | GeneProduct | ENSG00000113575 (Ensembl) ![]() | |
PPP2CB | GeneProduct | ENSG00000104695 (Ensembl) ![]() | |
PPP2R1A | GeneProduct | ENSG00000105568 (Ensembl) ![]() | |
PPP2R5D | GeneProduct | ENSG00000112640 (Ensembl) ![]() | |
PPP4C | GeneProduct | ENSG00000149923 (Ensembl) ![]() | |
PPP4R1 | GeneProduct | ENSG00000154845 (Ensembl) ![]() | |
PPP4R2 | GeneProduct | ENSG00000163605 (Ensembl) ![]() | |
PPP4R3A | GeneProduct | ENSG00000100796 (Ensembl) ![]() | SMEK1 |
PPP4R3B | GeneProduct | ENSG00000275052 (Ensembl) ![]() | SMEK2 |
PPP4R3C | GeneProduct | ENSG00000224960 (Ensembl) ![]() | |
PPP4R4 | GeneProduct | ENSG00000119698 (Ensembl) ![]() | |
PRRT2 | GeneProduct | ENSG00000167371 (Ensembl) ![]() | |
PTEN | GeneProduct | ENSG00000171862 (Ensembl) ![]() | |
Phosphoprotein Phosphatase 4 complex | Complex | ||
QPRT | GeneProduct | ENSG00000103485 (Ensembl) ![]() | |
REL | GeneProduct | ENSG00000162924 (Ensembl) ![]() | |
SEZ6L2 | GeneProduct | ENSG00000174938 (Ensembl) ![]() | |
SIAH1 | GeneProduct | ENSG00000196470 (Ensembl) ![]() | |
SPN | GeneProduct | ENSG00000197471 (Ensembl) ![]() | Leukosialin also known as sialophorin or CD43 |
Sodium molybdate | Metabolite | CHEBI:75215 (ChEBI) ![]() | |
Synaptic vesicle release | Pathway | WP2267 (WikiPathways) ![]() | |
TAOK2 | GeneProduct | ENSG00000149930 (Ensembl) ![]() | |
TBX6 | GeneProduct | ENSG00000149922 (Ensembl) ![]() | |
TCP1 | GeneProduct | ENSG00000120438 (Ensembl) ![]() | |
TLCD3B | GeneProduct | ENSG00000149926 (Ensembl) ![]() | |
TMEM219 | GeneProduct | ENSG00000149932 (Ensembl) ![]() | IGFBP-3R |
TP53 | GeneProduct | ENSG00000141510 (Ensembl) ![]() | |
TRAF2 | GeneProduct | ENSG00000127191 (Ensembl) ![]() | |
TRAF6 | GeneProduct | ENSG00000175104 (Ensembl) ![]() | |
UNC13A | GeneProduct | ENSG00000130477 (Ensembl) ![]() | MUNC13 |
UNC13B | GeneProduct | ENSG00000198722 (Ensembl) ![]() | MUNC13 |
YPEL3 | GeneProduct | ENSG00000090238 (Ensembl) ![]() | |
ZG16 | GeneProduct | ENSG00000174992 (Ensembl) ![]() | |
anandamide | Metabolite | 2700 (ChEBI) ![]() | |
choline alfoscerate | Metabolite | 16870 (ChEBI) ![]() | |
choline | Metabolite | 15354 (ChEBI) ![]() | |
coenzyme A(4−) | Metabolite | 57287 (ChEBI) ![]() | |
cytidine 5'-monophosphate(2−) | Metabolite | 60377 (ChEBI) ![]() | |
diphosphate(3−) | Metabolite | 33019 (ChEBI) ![]() | |
glycerone phosphate(2−) | Metabolite | 57642 (ChEBI) ![]() | |
hexadecanoate | Metabolite | 7896 (ChEBI) ![]() | |
hsa-mir-3680-2 | GeneProduct | MI0019113 (miRBase Sequence) ![]() | |
icosanoyl-CoA(4−) | Metabolite | 57380 (ChEBI) ![]() | |
lysophosphatidylcholine O-16:0/0:0 | Metabolite | 64496 (ChEBI) ![]() | |
myo-inositol | Metabolite | 17268 (ChEBI) ![]() | |
nicotinate β-D-ribonucleotide | Metabolite | 57502 (ChEBI) ![]() | |
oleoyl ethanolamide | Metabolite | 71466 (ChEBI) ![]() | |
palmitoyl ethanolamide | Metabolite | 71464 (ChEBI) ![]() | |
palmitoyl-CoA(4−) | Metabolite | 57379 (ChEBI) ![]() | |
phthalic acid | Metabolite | CHEBI:29069 (ChEBI) ![]() | |
quinolinate | Metabolite | CHEBI:29959 (ChEBI) ![]() | |
sphingosine(1+) | Metabolite | 57756 (ChEBI) ![]() | |
stearoyl-CoA(4−) | Metabolite | 57394 (ChEBI) ![]() | |
β-D-fructofuranose 1,6-bisphosphate(4−) | Metabolite | 32966 (ChEBI) ![]() |
Annotated Interactions
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Source | Target | Type | Database reference | Comment |
---|---|---|---|---|
CDIPT | mim-catalysis | 11580 (Rhea) ![]() | ||
mim-conversion | 11580 (Rhea) ![]() | |||
mim-conversion | 36687 (Rhea) ![]() | |||
mim-conversion | 36691 (Rhea) ![]() | |||
mim-conversion | 38975 (Rhea) ![]() | |||
mim-conversion | 40435 (Rhea) ![]() | |||
mim-conversion | 41143 (Rhea) ![]() | |||
mim-conversion | 45284 (Rhea) ![]() | |||
mim-conversion | 45544 (Rhea) ![]() | |||
mim-conversion | 53168 (Rhea) ![]() | |||
mim-conversion | 53184 (Rhea) ![]() | |||
mim-conversion | 56460 (Rhea) ![]() | |||
β-D-fructofuranose 1,6-bisphosphate(4−) | mim-conversion | 14729 (Rhea) ![]() |