16p11.2 proximal deletion syndrome (Homo sapiens)

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3493623241636271443, 12, 335232, 710, 3521, 243011382725231529244363782, 72733249132334322019stress induced cellcycle arrest andapoptosisinvolved insperm and eggfusionmitosislocated in zymogen granule membraneinvolved in protein secretionChromosome 16: 30,190,593excitotoxic to neuronsRNA geneStressVault formationLymphocyte traffickingLympthocyte polarizationKCTD13 deficient mice- synaptic formation- mature spine density in hippocampuspromotor bindingtranscriptionalregulatorChromosome 16: 29,592,751exact function unknown but involvedin movement disorders in genetic epilepsies Function unclearEnzymatic activitydioxygenase activityunknown functionFunction unclearinvolved in neuronal ERtrafficking16118MAB21L4MAP2K3Nucleotide Excision RepairPAGR1CCT4SMG1P2nicotinate β-D-ribonucleotidePPP4R4KMT2Dquinolinate1-phosphatidyl-1D-myo-inositol(1−)INO80EPhosphoproteinPhosphatase 4 complexSynaptic vesicle releaseglycerone phosphate(2−)PPP2CBSodium molybdateKCTD13PPP2R1AMAZhsa-mir-3680-2coenzyme A(4−)PCNAstearoyl-CoA(4−)myo-inositolN-octadecanoylsphingosineKMT2CEZRsphingosine(1+)PAXIP1Glucocorticoid receptor pathwayDOC2APTENHDAC3RELTRAF6INO80 complexHistone modificationsD-glyceraldehyde 3-phosphate(2−)phthalic acidESR1TLCD3BHistoneCCT5CASP8CCT6ACA5AP1β-D-fructofuranose 1,6-bisphosphate(4−)Clathrin-mediated endocytosisCCDC6PPP4R1PRRT2CO2PPP4R3BDiacylglycerolCCT6BQPRTPPP4R3ABPTFNFKB1SIAH1CDIPTKIF22Chaperonin-containing T-complexMAP2K6MAPK cascadeIGFBP35-phospho-α-D-ribose 1-diphosphatePPP4R2PPP4CMVPPPP2R5DDNA replicationPARP4Apoptosis NAD+ biosynthesisCCT7HIRIP3TMEM219Glycolysis and GluconeogenesisFIMPZG16CDP-diacylglycerol(2−)TAOK2TCP1PPARGRN7SKP127ASPHD1SEZ6L2diphosphate(3−)H+cytidine 5'-monophosphate(2−)MSNCCT8ActinSLC7A5P1PPP2CANR3C1Ca2+CDIPTOSPUNC13BIGBP1NFKB1SPNCCT2Neurotransmitter release cycleHIRA22q11.2 DS pathwayALDOADNA Mismatch Repairpseudo gene153, 12, 33PAGR1292938204DNA replication32UNC13A23232323H+coenzyme A(4−)N-icosanoylsphingosineH+coenzyme A(4−)N-hexadecanoylsphingosineH+icosanoyl-CoA(4−)sphingosine(1+)palmitoyl-CoA(4−)sphingosine(1+)72, 7, 31HDAC3PPP4R3CPPP4C13131313CCT313131313131313REL13TRAF6TRAF2TRAF22626Transcription factor regulatingmesoderm specificationmesoderm segmentation(in zebrafish)6, 22CORO1AhexadecanoateCa2+TBX6N-arachidonoyl-1-oleoyl-sn-glycero-3-phosphoethanolamine(1−)H2Opalmitoyl ethanolamide1-(1Z-octadecenyl)-sn-glycero-3-phospho-(N-hexadecanoyl)ethanolamine(1−)TP53YPEL3palmitoyl ethanolamidecholine alfoscerate1-oleoyl-sn-glycero-3-phosphate(2−)choline1-hexadecanoyl-sn-glycero-3-phosphocholine1-palmitoyl-sn-glycerol 3-phosphate(2−)N,1-dioleoyl-sn-glycero-3-phosphoethanolamine(1−)1-(1Z-octadecenyl)-sn-glycero-3-phosphate(2−)GDPD31-oleoyl-sn-glycero-3-phosphate(2−)1-hexadecyl-sn-glycero-3-phosphate(2−)N-palmitoyl-1-oleoyl-sn-glycero-3-phosphoethanolamine(1−)Oncogene Induced Senescencelysophosphatidylcholine O-16:0/0:0oleoyl ethanolamideanandamideMAPK3H+H2OH+1-hexadecanoyl-sn-glycero-3-phosphocholineH2OH+H2O26H+H2O26H+1-oleoyl-sn-glycero-3-phosphate(2−)26H2OH+26H2OcholineH+2617, 28


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.

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Ontology Terms

 

Bibliography

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History

View all...
CompareRevisionActionTimeUserComment
113592view08:18, 4 November 2020Fehrhartconnected unconnected lines
113017view05:57, 30 October 2020EgonwReplaced a secondary ChEBI identifier
112993view10:30, 29 October 2020Fehrhartfirst complete draft done
112992view10:19, 29 October 2020Fehrhartwork in progress
112991view09:34, 29 October 2020Fehrhartwork in progress
112982view13:14, 28 October 2020Fehrhartwork in progress
112961view07:25, 23 October 2020EgonwReplaced secondary ChEBI identifiers
112957view15:22, 22 October 2020Fehrhartwork in progress
112956view15:03, 22 October 2020Fehrhartwork in progress
112946view09:01, 22 October 2020Fehrhartwork in progress
112920view10:24, 20 October 2020Fehrhartwork in progress
112918view10:07, 20 October 2020Fehrhartwork in progress
112917view09:36, 20 October 2020Fehrhartwork in progress
112846view05:47, 12 October 2020EgonwReplaced secondary ChEBI IDs with primary IDs
112286view13:02, 9 October 2020Fehrhartwork in progress
112285view12:14, 9 October 2020Fehrhartwork in progress
112284view11:34, 9 October 2020Fehrhartwork in progress
112283view11:05, 9 October 2020Fehrhartwork in progress
112282view10:16, 9 October 2020Fehrhartwork in progress
112269view15:03, 8 October 2020Fehrhartwork in progress
112128view20:40, 25 September 2020Khanspersdecreased board size
111261view15:35, 27 July 2020FehrhartModified description
111257view15:34, 27 July 2020FehrhartOntology Term : 'chromosome 16p11.2 deletion syndrome, 220kb' added !
111256view15:34, 27 July 2020FehrhartOntology Term : 'disease pathway' added !
111255view15:34, 27 July 2020FehrhartOntology Term : 'genetic disease' added !
111253view15:32, 27 July 2020FehrhartModified description
111251view15:20, 27 July 2020FehrhartNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
1-(1Z-octadecenyl)-sn-glycero-3-phosphate(2−)Metabolite137017 (ChEBI)
1-(1Z-octadecenyl)-sn-glycero-3-phospho- (N-hexadecanoyl)ethanolamine(1−)Metabolite137009 (ChEBI)
1-hexadecanoyl-sn-glycero-3-phosphocholineMetabolite72998 (ChEBI)
1-hexadecyl-sn-glycero-3-phosphate(2−)Metabolite77580 (ChEBI)
1-oleoyl-sn-glycero-3-phosphate(2−)Metabolite74544 (ChEBI)
1-palmitoyl-sn-glycerol 3-phosphate(2−)Metabolite57518 (ChEBI)
1-phosphatidyl-1D-myo-inositol(1−)Metabolite57880 (ChEBI)
22q11.2 DS pathwayPathwayWP4657 (WikiPathways)
5-phospho-α-D-ribose 1-diphosphateMetabolite58017 (ChEBI)
ALDOAGeneProductENSG00000149925 (Ensembl)
ASPHD1GeneProductENSG00000174939 (Ensembl)
ActinGeneProductPF00022 (Pfam)
Apoptosis PathwayWP254 (WikiPathways)
BPTFGeneProductENSG00000171634 (Ensembl) FAC1
CA5AP1GeneProductENSG00000260133 (Ensembl)
CASP8GeneProductENSG00000064012 (Ensembl)
CCDC6GeneProductENSG00000108091 (Ensembl)
CCT2GeneProductENSG00000166226 (Ensembl)
CCT3GeneProductENSG00000163468 (Ensembl)
CCT4GeneProductENSG00000115484 (Ensembl)
CCT5GeneProductENSG00000150753 (Ensembl)
CCT6AGeneProductENSG00000146731 (Ensembl)
CCT6BGeneProductENSG00000132141 (Ensembl)
CCT7GeneProductENSG00000135624 (Ensembl)
CCT8GeneProductENSG00000156261 (Ensembl)
CDIPTGeneProductENSG00000103502 (Ensembl)
CDIPTOSPGeneProductENSG00000214725 (Ensembl)
CDP-diacylglycerol(2−)Metabolite58332 (ChEBI)
CO2MetaboliteCHEBI:16526 (ChEBI)
CORO1AGeneProductENSG00000102879 (Ensembl)
Ca2+MetaboliteCHEBI:29108 (ChEBI)
Chaperonin-containing T-complexComplexCPX-6030 (EMBL) Complex Portal
Clathrin-mediated endocytosisPathwayWP4065 (WikiPathways)
D-glyceraldehyde 3-phosphate(2−)Metabolite59776 (ChEBI)
DNA Mismatch RepairPathwayWP531 (WikiPathways)
DNA replicationPathwayWP466 (WikiPathways)
DOC2AGeneProductENSG00000149927 (Ensembl)
DiacylglycerolMetaboliteCHEBI:18035 (ChEBI)
ESR1GeneProductENSG00000091831 (Ensembl)
EZRGeneProductENSG00000092820 (Ensembl)
FIMPGeneProductENSG00000167194 (Ensembl) C16orf92
GDPD3GeneProductENSG00000102886 (Ensembl)
Glucocorticoid receptor pathwayPathwayWP2880 (WikiPathways)
Glycolysis and GluconeogenesisPathwayWP534 (WikiPathways)
H+Metabolite15378 (ChEBI)
H2OMetabolite15377 (ChEBI)
HDAC3GeneProductENSG00000171720 (Ensembl)
HIRAGeneProductENSG00000100084 (Ensembl)
HIRIP3GeneProductENSG00000149929 (Ensembl)
Histone modificationsPathwayWP2369 (WikiPathways)
HistoneGeneProductPF00125 (Pfam)
IGBP1GeneProductENSG00000089289 (Ensembl)
IGFBP3GeneProductENSG00000146674 (Ensembl)
INO80 complex Complex
INO80EGeneProductENSG00000169592 (Ensembl)
KCTD13GeneProductENSG00000174943 (Ensembl)
KIF22GeneProductENSG00000079616 (Ensembl)
KMT2CGeneProductENSG00000055609 (Ensembl)
KMT2DGeneProductENSG00000167548 (Ensembl)
MAB21L4GeneProductENSG00000185905 (Ensembl) C2orf54
MAP2K3GeneProductENSG00000034152 (Ensembl)
MAP2K6GeneProductENSG00000108984 (Ensembl)
MAPK cascadePathwayWP422 (WikiPathways)
MAPK3GeneProductENSG00000102882 (Ensembl)
MAZGeneProductENSG00000103495 (Ensembl)
MSNGeneProductENSG00000147065 (Ensembl)
MVPGeneProductENSG00000013364 (Ensembl)
N,1-dioleoyl-sn-glycero- 3-phosphoethanolamine(1−)Metabolite85222 (ChEBI)
N-arachidonoyl-1-oleoyl-sn- glycero-3-phosphoethanolamine(1−)Metabolite85223 (ChEBI)
N-hexadecanoylsphingosineMetabolite72959 (ChEBI)
N-icosanoylsphingosineMetabolite72962 (ChEBI)
N-octadecanoylsphingosineMetabolite72961 (ChEBI)
N-palmitoyl-1-oleoyl-sn-glycero- 3-phosphoethanolamine(1−)Metabolite85217 (ChEBI)
NAD+ biosynthesisPathwayWP3645 (WikiPathways)
NFKB1GeneProductENSG00000109320 (Ensembl)
NR3C1GeneProductENSG00000113580 (Ensembl)
Neurotransmitter release cyclePathwayWP1871 (WikiPathways)
Nucleotide Excision RepairPathway1980 (WikiPathways)
Oncogene Induced SenescencePathwayWP3308 (WikiPathways)
PAGR1GeneProductENSG00000280789 (Ensembl)
PARP4GeneProductENSG00000102699 (Ensembl)
PAXIP1GeneProductENSG00000157212 (Ensembl)
PCNAGeneProductENSG00000132646 (Ensembl)
PPARGGeneProductENSG00000132170 (Ensembl)
PPP2CAGeneProductENSG00000113575 (Ensembl)
PPP2CBGeneProductENSG00000104695 (Ensembl)
PPP2R1AGeneProductENSG00000105568 (Ensembl)
PPP2R5DGeneProductENSG00000112640 (Ensembl)
PPP4CGeneProductENSG00000149923 (Ensembl)
PPP4R1GeneProductENSG00000154845 (Ensembl)
PPP4R2GeneProductENSG00000163605 (Ensembl)
PPP4R3AGeneProductENSG00000100796 (Ensembl) SMEK1
PPP4R3BGeneProductENSG00000275052 (Ensembl) SMEK2
PPP4R3CGeneProductENSG00000224960 (Ensembl)
PPP4R4GeneProductENSG00000119698 (Ensembl)
PRRT2GeneProductENSG00000167371 (Ensembl)
PTENGeneProductENSG00000171862 (Ensembl)
Phosphoprotein Phosphatase 4 complexComplex
QPRTGeneProductENSG00000103485 (Ensembl)
RELGeneProductENSG00000162924 (Ensembl)
RN7SKP127GeneProductENSG00000222375 (Ensembl)
SEZ6L2GeneProductENSG00000174938 (Ensembl)
SIAH1GeneProductENSG00000196470 (Ensembl)
SLC7A5P1GeneProductENSG00000260727 (Ensembl)
SMG1P2GeneProductENSG00000205534 (Ensembl)
SPNGeneProductENSG00000197471 (Ensembl) Leukosialin also known as sialophorin or CD43
Sodium molybdateMetaboliteCHEBI:75215 (ChEBI)
Synaptic vesicle releasePathwayWP2267 (WikiPathways)
TAOK2GeneProductENSG00000149930 (Ensembl)
TBX6GeneProductENSG00000149922 (Ensembl)
TCP1GeneProductENSG00000120438 (Ensembl)
TLCD3BGeneProductENSG00000149926 (Ensembl)
TMEM219GeneProductENSG00000149932 (Ensembl) IGFBP-3R
TP53GeneProductENSG00000141510 (Ensembl)
TRAF2GeneProductENSG00000127191 (Ensembl)
TRAF6GeneProductENSG00000175104 (Ensembl)
UNC13AGeneProductENSG00000130477 (Ensembl) MUNC13
UNC13BGeneProductENSG00000198722 (Ensembl) MUNC13
YPEL3GeneProductENSG00000090238 (Ensembl)
ZG16GeneProductENSG00000174992 (Ensembl)
anandamideMetabolite2700 (ChEBI)
choline alfoscerateMetabolite16870 (ChEBI)
cholineMetabolite15354 (ChEBI)
coenzyme A(4−)Metabolite57287 (ChEBI)
cytidine 5'-monophosphate(2−)Metabolite60377 (ChEBI)
diphosphate(3−) Metabolite33019 (ChEBI)
glycerone phosphate(2−)Metabolite57642 (ChEBI)
hexadecanoateMetabolite7896 (ChEBI)
hsa-mir-3680-2GeneProductMI0019113 (miRBase Sequence)
icosanoyl-CoA(4−)Metabolite57380 (ChEBI)
lysophosphatidylcholine O-16:0/0:0Metabolite64496 (ChEBI)
myo-inositolMetabolite17268 (ChEBI)
nicotinate β-D-ribonucleotideMetabolite57502 (ChEBI)
oleoyl ethanolamideMetabolite71466 (ChEBI)
palmitoyl ethanolamideMetabolite71464 (ChEBI)
palmitoyl-CoA(4−)Metabolite57379 (ChEBI)
phthalic acidMetaboliteCHEBI:29069 (ChEBI)
quinolinateMetaboliteCHEBI:29959 (ChEBI)
sphingosine(1+)Metabolite57756 (ChEBI)
stearoyl-CoA(4−)Metabolite57394 (ChEBI)
β-D-fructofuranose 1,6-bisphosphate(4−)Metabolite32966 (ChEBI)

Annotated Interactions

View all...
SourceTargetTypeDatabase referenceComment
CDIPTmim-catalysis11580 (Rhea)
mim-conversion11580 (Rhea)
mim-conversion36687 (Rhea)
mim-conversion36691 (Rhea)
mim-conversion38975 (Rhea)
mim-conversion40435 (Rhea)
mim-conversion41143 (Rhea)
mim-conversion45284 (Rhea)
mim-conversion45544 (Rhea)
mim-conversion53168 (Rhea)
mim-conversion53184 (Rhea)
mim-conversion56460 (Rhea)
β-D-fructofuranose 1,6-bisphosphate(4−)mim-conversion14729 (Rhea)
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