16p11.2 proximal deletion syndrome (WP4949)
Homo sapiens
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.
Authors
Friederike Ehrhart , Kristina Hanspers , Egon Willighagen , Eric Weitz , and Aishwarya IyerActivity
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Organisms
Homo sapiensCommunities
Diseases Rare DiseasesAnnotations
Disease Ontology
genetic disease chromosome 16p11.2 deletion syndrome chromosomal deletion syndromePathway Ontology
disease pathwayLabel | Type | Compact URI | Comment |
---|---|---|---|
cytidine 5'-monophosphate(2−) | Metabolite | chebi:60377 | |
H+ | Metabolite | chebi:15378 | |
nicotinate β-D-ribonucleotide | Metabolite | chebi:57502 | |
phthalic acid | Metabolite | chebi:29069 | |
stearoyl-CoA(4−) | Metabolite | chebi:57394 | |
D-glyceraldehyde 3-phosphate(2−) | Metabolite | chebi:59776 | |
Ca2+ | Metabolite | chebi:29108 | |
sphingosine(1+) | Metabolite | chebi:57756 | |
CDP-diacylglycerol(2−) | Metabolite | chebi:58332 | |
Diacylglycerol | Metabolite | chebi:18035 | |
Sodium molybdate | Metabolite | chebi:75215 | |
glycerone phosphate(2−) | Metabolite | chebi:57642 | |
1-phosphatidyl-1D-myo-inositol(1−) | Metabolite | chebi:57880 | |
coenzyme A(4−) | Metabolite | chebi:57287 | |
diphosphate(3−) | Metabolite | chebi:33019 | |
N-octadecanoylsphingosine | Metabolite | chebi:72961 | |
quinolinate | Metabolite | chebi:29959 | |
myo-inositol | Metabolite | chebi:17268 | |
β-D-fructofuranose 1,6-bisphosphate(4−) | Metabolite | chebi:32966 | |
CO2 | Metabolite | chebi:16526 | |
5-phospho-α-D-ribose 1-diphosphate | Metabolite | chebi:58017 | |
N-icosanoylsphingosine | Metabolite | chebi:72962 | |
N-hexadecanoylsphingosine | Metabolite | chebi:72959 | |
icosanoyl-CoA(4−) | Metabolite | chebi:57380 | |
palmitoyl-CoA(4−) | Metabolite | chebi:57379 | |
hexadecanoate | Metabolite | chebi:7896 | |
N-arachidonoyl-1-oleoyl-sn-glycero-3-phosphoethanolamine(1−) | Metabolite | chebi:85223 | |
H2O | Metabolite | chebi:15377 | |
palmitoyl ethanolamide | Metabolite | chebi:71464 | |
1-(1Z-octadecenyl)-sn-glycero-3-phospho-(N-hexadecanoyl)ethanolamine(1−) | Metabolite | chebi:137009 | |
choline alfoscerate | Metabolite | chebi:16870 | |
1-oleoyl-sn-glycero-3-phosphate(2−) | Metabolite | chebi:74544 | |
choline | Metabolite | chebi:15354 | |
1-hexadecanoyl-sn-glycero-3-phosphocholine | Metabolite | chebi:72998 | |
1-palmitoyl-sn-glycerol 3-phosphate(2−) | Metabolite | chebi:57518 | |
N,1-dioleoyl-sn-glycero-3-phosphoethanolamine(1−) | Metabolite | chebi:85222 | |
1-(1Z-octadecenyl)-sn-glycero-3-phosphate(2−) | Metabolite | chebi:137017 | |
1-hexadecyl-sn-glycero-3-phosphate(2−) | Metabolite | chebi:77580 | |
N-palmitoyl-1-oleoyl-sn-glycero-3-phosphoethanolamine(1−) | Metabolite | chebi:85217 | |
lysophosphatidylcholine O-16:0/0:0 | Metabolite | chebi:64496 | |
oleoyl ethanolamide | Metabolite | chebi:71466 | |
anandamide | Metabolite | chebi:2700 | |
hsa-mir-3680-2 | GeneProduct | mirbase:MI0019113 | |
PARP4 | GeneProduct | ensembl:ENSG00000102699 | |
SEZ6L2 | GeneProduct | ensembl:ENSG00000174938 | |
KMT2C | GeneProduct | ensembl:ENSG00000055609 | |
TAOK2 | GeneProduct | ensembl:ENSG00000149930 | |
CASP8 | GeneProduct | ensembl:ENSG00000064012 | |
MSN | GeneProduct | ensembl:ENSG00000147065 | |
PPARG | GeneProduct | ensembl:ENSG00000132170 | |
FIMP | GeneProduct | ensembl:ENSG00000167194 | C16orf92 |
CCT5 | GeneProduct | ensembl:ENSG00000150753 | |
UNC13B | GeneProduct | ensembl:ENSG00000198722 | MUNC13 |
TLCD3B | GeneProduct | ensembl:ENSG00000149926 | |
MAP2K6 | GeneProduct | ensembl:ENSG00000108984 | |
TCP1 | GeneProduct | ensembl:ENSG00000120438 | |
PAXIP1 | GeneProduct | ensembl:ENSG00000157212 | |
HIRIP3 | GeneProduct | ensembl:ENSG00000149929 | |
PPP2CB | GeneProduct | ensembl:ENSG00000104695 | |
CCT2 | GeneProduct | ensembl:ENSG00000166226 | |
Histone | GeneProduct | pfam:PF00125 | |
CCT6B | GeneProduct | ensembl:ENSG00000132141 | |
PPP4R3B | GeneProduct | ensembl:ENSG00000275052 | SMEK2 |
TMEM219 | GeneProduct | ensembl:ENSG00000149932 | IGFBP-3R |
EZR | GeneProduct | ensembl:ENSG00000092820 | |
SIAH1 | GeneProduct | ensembl:ENSG00000196470 | |
PRRT2 | GeneProduct | ensembl:ENSG00000167371 | |
PPP4R3A | GeneProduct | ensembl:ENSG00000100796 | SMEK1 |
NFKB1 | GeneProduct | ensembl:ENSG00000109320 | |
PAGR1 | GeneProduct | ensembl:ENSG00000280789 | |
ALDOA | GeneProduct | ensembl:ENSG00000149925 | |
PPP2CA | GeneProduct | ensembl:ENSG00000113575 | |
REL | GeneProduct | ensembl:ENSG00000162924 | |
CCT8 | GeneProduct | ensembl:ENSG00000156261 | |
HDAC3 | GeneProduct | ensembl:ENSG00000171720 | |
PPP4C | GeneProduct | ensembl:ENSG00000149923 | |
CDIPT | GeneProduct | ensembl:ENSG00000103502 | |
CCT7 | GeneProduct | ensembl:ENSG00000135624 | |
DOC2A | GeneProduct | ensembl:ENSG00000149927 | |
ZG16 | GeneProduct | ensembl:ENSG00000174992 | |
MAP2K3 | GeneProduct | ensembl:ENSG00000034152 | |
PTEN | GeneProduct | ensembl:ENSG00000171862 | |
PPP2R1A | GeneProduct | ensembl:ENSG00000105568 | |
CCT6A | GeneProduct | ensembl:ENSG00000146731 | |
BPTF | GeneProduct | ensembl:ENSG00000171634 | FAC1 |
ASPHD1 | GeneProduct | ensembl:ENSG00000174939 | |
HIRA | GeneProduct | ensembl:ENSG00000100084 | |
PCNA | GeneProduct | ensembl:ENSG00000132646 | |
SPN | GeneProduct | ensembl:ENSG00000197471 | Leukosialin also known as sialophorin or CD43 |
PPP4R4 | GeneProduct | ensembl:ENSG00000119698 | |
PPP2R5D | GeneProduct | ensembl:ENSG00000112640 | |
KMT2D | GeneProduct | ensembl:ENSG00000167548 | |
INO80E | GeneProduct | ensembl:ENSG00000169592 | |
QPRT | GeneProduct | ensembl:ENSG00000103485 | |
TRAF6 | GeneProduct | ensembl:ENSG00000175104 | |
MAZ | GeneProduct | ensembl:ENSG00000103495 | |
Actin | GeneProduct | pfam:PF00022 | |
CCDC6 | GeneProduct | ensembl:ENSG00000108091 | |
NR3C1 | GeneProduct | ensembl:ENSG00000113580 | |
PPP4R2 | GeneProduct | ensembl:ENSG00000163605 | |
CCT4 | GeneProduct | ensembl:ENSG00000115484 | |
PPP4R1 | GeneProduct | ensembl:ENSG00000154845 | |
MAB21L4 | GeneProduct | ensembl:ENSG00000185905 | C2orf54 |
KIF22 | GeneProduct | ensembl:ENSG00000079616 | |
MVP | GeneProduct | ensembl:ENSG00000013364 | |
IGFBP3 | GeneProduct | ensembl:ENSG00000146674 | |
ESR1 | GeneProduct | ensembl:ENSG00000091831 | |
IGBP1 | GeneProduct | ensembl:ENSG00000089289 | |
KCTD13 | GeneProduct | ensembl:ENSG00000174943 | |
UNC13A | GeneProduct | ensembl:ENSG00000130477 | MUNC13 |
PPP4R3C | GeneProduct | ensembl:ENSG00000224960 | |
CCT3 | GeneProduct | ensembl:ENSG00000163468 | |
TRAF2 | GeneProduct | ensembl:ENSG00000127191 | |
CORO1A | GeneProduct | ensembl:ENSG00000102879 | |
TBX6 | GeneProduct | ensembl:ENSG00000149922 | |
TP53 | GeneProduct | ensembl:ENSG00000141510 | |
YPEL3 | GeneProduct | ensembl:ENSG00000090238 | |
GDPD3 | GeneProduct | ensembl:ENSG00000102886 | |
MAPK3 | GeneProduct | ensembl:ENSG00000102882 |
References
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- Characterization and functional expression of the cDNA encoding human brain quinolinate phosphoribosyltransferase. Fukuoka SI, Nyaruhucha CM, Shibata K. Biochim Biophys Acta. 1998 Jan 21;1395(2):192–201. PubMed Europe PMC Scholia
- CD43 interacts with moesin and ezrin and regulates its redistribution to the uropods of T lymphocytes at the cell-cell contacts. Serrador JM, Nieto M, Alonso-Lebrero JL, del Pozo MA, Calvo J, Furthmayr H, et al. Blood. 1998 Jun 15;91(12):4632–44. PubMed Europe PMC Scholia
- Interaction of vault particles with estrogen receptor in the MCF-7 breast cancer cell. Abbondanza C, Rossi V, Roscigno A, Gallo L, Belsito A, Piluso G, et al. J Cell Biol. 1998 Jun 15;141(6):1301–10. PubMed Europe PMC Scholia
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