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.


Friederike Ehrhart , Kristina Hanspers , and Egon Willighagen


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Homo sapiens


Diseases Rare Diseases


Disease Ontology

genetic disease chromosome 16p11.2 deletion syndrome

Pathway Ontology

disease pathway


Label 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
H+ Metabolite chebi:15378
coenzyme A(4−) Metabolite chebi:57287
N-icosanoylsphingosine Metabolite chebi:72962
H+ Metabolite chebi:15378
coenzyme A(4−) Metabolite chebi:57287
N-hexadecanoylsphingosine Metabolite chebi:72959
H+ Metabolite chebi:15378
icosanoyl-CoA(4−) Metabolite chebi:57380
sphingosine(1+) Metabolite chebi:57756
palmitoyl-CoA(4−) Metabolite chebi:57379
sphingosine(1+) Metabolite chebi:57756
hexadecanoate Metabolite chebi:7896
Ca2+ Metabolite chebi:29108
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
palmitoyl ethanolamide Metabolite chebi:71464
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-oleoyl-sn-glycero-3-phosphate(2−) Metabolite chebi:74544
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
H+ Metabolite chebi:15378
H2O Metabolite chebi:15377
H+ Metabolite chebi:15378
1-hexadecanoyl-sn-glycero-3-phosphocholine Metabolite chebi:72998
H2O Metabolite chebi:15377
H+ Metabolite chebi:15378
H2O Metabolite chebi:15377
H+ Metabolite chebi:15378
H2O Metabolite chebi:15377
H+ Metabolite chebi:15378
1-oleoyl-sn-glycero-3-phosphate(2−) Metabolite chebi:74544
H2O Metabolite chebi:15377
H+ Metabolite chebi:15378
H2O Metabolite chebi:15377
choline Metabolite chebi:15354
H+ Metabolite chebi:15378
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
NFKB1 GeneProduct ensembl:ENSG00000109320
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
PAGR1 GeneProduct ensembl:ENSG00000280789
UNC13A GeneProduct ensembl:ENSG00000130477 MUNC13
HDAC3 GeneProduct ensembl:ENSG00000171720
PPP4R3C GeneProduct ensembl:ENSG00000224960
PPP4C GeneProduct ensembl:ENSG00000149923
CCT3 GeneProduct ensembl:ENSG00000163468
REL GeneProduct ensembl:ENSG00000162924
TRAF6 GeneProduct ensembl:ENSG00000175104
TRAF2 GeneProduct ensembl:ENSG00000127191
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


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