16p11.2 proximal deletion syndrome (Homo sapiens)

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17161518241110671111911116168209225, 26143245, 10, 136641225, 2619, 22RNA geneLymphocyte traffickingLympthocyte polarizationChromosome 16: 29,592,751Function unclearinvolved in neuronal ERtraffickingunknown functionpromotor bindingtranscriptionalregulatorStressVault formationKCTD13 deficient mice- synaptic formation- mature spine density in hippocampusmitosisstress induced cellcycle arrest andapoptosisexcitotoxic to neuronsexact function unknown but involvedin movement disorders in genetic epilepsies Chromosome 16: 30,190,593Function unclearEnzymatic activitydioxygenase activitylocated in zymogen granule membraneinvolved in protein secretioninvolved insperm and eggfusion32123PRRT2quinolinatePPP4Chsa-mir-3680-2KCTD13Glucocorticoid receptor pathwayDNA Mismatch RepairCDIPTOSPKMT2DHistonePTENcytidine 5'-monophosphate(2−)NR3C1UNC13Bmyo-inositolCA5AP1ZG16PCNATBX6PAXIP1HIRIP3MAP2K3IGFBP3MAPK3MAB21L4N-octadecanoylsphingosineEZRMVPphthalic acidCO2INO80ECASP8CDP-diacylglycerol(2−)Glycolysis and GluconeogenesisTMEM219RN7SKP127DOC2AGDPD3CDIPTstearoyl-CoA(4−)1-phosphatidyl-1D-myo-inositol(1−)INO80 complexDiacylglycerolPARP4sphingosine(1+)BPTF22q11.2 DS pathwayNucleotide Excision RepairApoptosis ESR1YPEL3MAP2K6H+TLCD3B5-phospho-α-D-ribose 1-diphosphateKIF22ASPHD1SPNSLC7A5P1Synaptic vesicle releaseHistone modificationsCa2+SMG1P2CORO1ATAOK2QPRTβ-D-fructofuranose 1,6-bisphosphate(4−)Sodium molybdatenicotinate β-D-ribonucleotideMAZD-glyceraldehyde 3-phosphate(2−)DNA replicationcoenzyme A(4−)MSNdiphosphate(3−)ALDOAPAGR1SIAH1PPARGHIRAKMT2CNAD+ biosynthesisNeurotransmitter release cycleglycerone phosphate(2−)FIMPSEZ6L2pseudo gene4PAGR15, 10, 1322820241DNA replicationUNC13A11111111H+coenzyme A(4−)N-icosanoylsphingosineH+coenzyme A(4−)N-hexadecanoylsphingosineH+icosanoyl-CoA(4−)sphingosine(1+)palmitoyl-CoA(4−)sphingosine(1+)2625-27


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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Bibliography

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History

View all...
CompareRevisionActionTimeUserComment
134719view16:18, 26 July 2024Ash iyerannotation for INO80 complex added.
134607view10:08, 23 July 2024EweitzOntology Term : 'chromosomal deletion syndrome' added !
125693view13:00, 7 March 2023Fehrhartremoved pseudogenes
115778view15:17, 11 March 2021FehrhartModified description
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-phosphatidyl-1D-myo-inositol(1−)Metabolite57880 (ChEBI)
22q11.2 DS pathwayPathwayWP4657 (WikiPathways)
5-phospho-α-D-ribose 1-diphosphateMetabolite58017 (ChEBI)
ALDOAGeneProductENSG00000149925 (Ensembl)
ASPHD1GeneProductENSG00000174939 (Ensembl)
Apoptosis PathwayWP254 (WikiPathways)
BPTFGeneProductENSG00000171634 (Ensembl) FAC1
CA5AP1GeneProductENSG00000260133 (Ensembl)
CASP8GeneProductENSG00000064012 (Ensembl)
CDIPTGeneProductENSG00000103502 (Ensembl)
CDIPTOSPGeneProductENSG00000214725 (Ensembl)
CDP-diacylglycerol(2−)Metabolite58332 (ChEBI)
CO2MetaboliteCHEBI:16526 (ChEBI)
CORO1AGeneProductENSG00000102879 (Ensembl)
Ca2+MetaboliteCHEBI:3308 (ChEBI)
D-glyceraldehyde 3-phosphate(2−)Metabolite59776 (ChEBI)
DNA Mismatch RepairPathwayWP531 (WikiPathways)
DNA replicationPathwayWP466 (WikiPathways)
DOC2AGeneProductENSG00000149927 (Ensembl)
DiacylglycerolMetaboliteCHEBI:4481 (ChEBI)
ESR1GeneProductENSG00000091831 (Ensembl)
EZRGeneProductENSG00000092820 (Ensembl)
FIMPGeneProductENSG00000167194 (Ensembl) C16orf92
GDPD3GeneProductENSG00000102886 (Ensembl)
Glucocorticoid receptor pathwayPathwayWP2880 (WikiPathways)
Glycolysis and GluconeogenesisPathwayWP534 (WikiPathways)
H+Metabolite15378 (ChEBI)
HIRAGeneProductENSG00000100084 (Ensembl)
HIRIP3GeneProductENSG00000149929 (Ensembl)
Histone modificationsPathwayWP2369 (WikiPathways)
HistoneGeneProductPF00125 (Pfam)
IGFBP3GeneProductENSG00000146674 (Ensembl)
INO80 complex Complex
INO80EGeneProductENSG00000169592 (Ensembl)
KCTD13GeneProductENSG00000174943 (Ensembl)
KIF22GeneProductENSG00000079616 (Ensembl)
KMT2CGeneProductENSG00000055609 (Ensembl)
KMT2DGeneProductENSG00000167548 (Ensembl)
MAB21L4GeneProductENSG00000185905 (Ensembl) C2orf54
MAP2K3GeneProductENSG00000034152 (Ensembl)
MAP2K6GeneProductENSG00000108984 (Ensembl)
MAPK3GeneProductENSG00000102882 (Ensembl)
MAZGeneProductENSG00000103495 (Ensembl)
MSNGeneProductENSG00000147065 (Ensembl)
MVPGeneProductENSG00000013364 (Ensembl)
N-hexadecanoylsphingosineMetabolite72959 (ChEBI)
N-icosanoylsphingosineMetabolite72962 (ChEBI)
N-octadecanoylsphingosineMetabolite72961 (ChEBI)
NAD+ biosynthesisPathwayWP3645 (WikiPathways)
NR3C1GeneProductENSG00000113580 (Ensembl)
Neurotransmitter release cyclePathwayWP1871 (WikiPathways)
Nucleotide Excision RepairPathway1980 (WikiPathways)
PAGR1GeneProductENSG00000280789 (Ensembl)
PARP4GeneProductENSG00000102699 (Ensembl)
PAXIP1GeneProductENSG00000157212 (Ensembl)
PCNAGeneProductENSG00000132646 (Ensembl)
PPARGGeneProductENSG00000132170 (Ensembl)
PPP4CGeneProductENSG00000149923 (Ensembl)
PRRT2GeneProductENSG00000167371 (Ensembl)
PTENGeneProductENSG00000171862 (Ensembl)
QPRTGeneProductENSG00000103485 (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)
TLCD3BGeneProductENSG00000149926 (Ensembl)
TMEM219GeneProductENSG00000149932 (Ensembl) IGFBP-3R
UNC13AGeneProductENSG00000130477 (Ensembl) MUNC13
UNC13BGeneProductENSG00000198722 (Ensembl) MUNC13
YPEL3GeneProductENSG00000090238 (Ensembl)
ZG16GeneProductENSG00000174992 (Ensembl)
coenzyme A(4−)Metabolite57287 (ChEBI)
cytidine 5'-monophosphate(2−)Metabolite60377 (ChEBI)
diphosphate(3−) Metabolite33019 (ChEBI)
glycerone phosphate(2−)Metabolite57642 (ChEBI)
hsa-mir-3680-2GeneProductMI0019113 (miRBase Sequence)
icosanoyl-CoA(4−)Metabolite57380 (ChEBI)
myo-inositolMetabolite17268 (ChEBI)
nicotinate β-D-ribonucleotideMetabolite57502 (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-conversion45284 (Rhea)
β-D-fructofuranose 1,6-bisphosphate(4−)mim-conversion14729 (Rhea)
Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP4949"
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