8p23.1 copy number variation syndrome (Homo sapiens)

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313115412249481843201732421834032193019103011322237374471512401251354612626791821252420324765135403732910chr8:8,098,990TelomeresInsulin secretionDifferentiation of photo-receptor cellsSugar and nucleotidetransporterCardiac specific gene expressionPrometaphaseCardiac-super-enhancersCardiac developmentSpindle pole assemblyVesicle trafickingchr8:11,872,558Tight junctionTelomere shorteningAntibacterial activityAutophagyInvolved in histone regulationUnknown functionProbably involved inglycogen breakdownM1 macrophage polarization[thioredoxin]-dithiolCTSDRP1L1Beta-catenin independent WNT signaling[thioredoxin]-disulfideNUMA1SLC35G5MEPESGPL1BMP1FCGR2ATLR2MAPK3ERI1DiphosphateDEFB136C8orf74MTMR7FDFT1MSRAPRSS55FAM167ANAD+NEIL2TBX5L-aspartylO-phospho-L-tyrosyl-[protein]MTMR8C8orf49TNKSFCGR2BH2OLipopolysaccharideCTSB2 (2E,6E)-farnesyl diphosphate3'-end 2'-deoxyribonucleotide-(2,3-dehydro-2,3-deoxyribose 5'-phosphate)-DNAH+CSTAWNT signalingSphingolipid metabolismPPP1R3BPDX1TERF1MTMR6NADPHCTNNB1SLC2A4PRSS51SLBPTLR4NADP+SOX7XKR6TERTPINX1TalazoparibProteasome degradationGATA4Mg2+XAV939AXIN14-O-(ADP-D-ribosyl)-L-aspartyl residueSqualeneMCRS1L-methionyl-(S)-S-oxide-[protein]p38 MAPK signaling pathwayHEPACAM2H+FCGR2C5'-end 5'-monophospho-2'-deoxyribonucleoside-DNARNAMAPK12'-deoxyribonucleotide-(2'-deoxyribose 5'-phosphate)-2'-deoxyribonucleotide-DNACGASL-tyrosyl-[protein]MFHAS1BLKCLDN23H+HSPD1MTMR9S100A10Base excision repairNKX6-1L-methionyl-[protein]AP-1TERF1ATPnicotinamideADPC8orf12RAF1DEFB135DEFB134Unknown functionUnknown functionUnknown functionUnknown functionUnknown functionFCGR2AFCGR2BFCGR2C515151P51PPCGASPUnknown function


Description

Pathways of relevant genes on the chromosome 8p23.1 duplication / deletion syndrome. Patients with a deletion often suffer from diaphragmatic hernia (CDH) and cardiac defects.

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Ontology Terms

 

Bibliography

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History

View all...
CompareRevisionActionTimeUserComment
134457view00:15, 22 July 2024EweitzFix typo, standardize case
134456view00:14, 22 July 2024EweitzOntology Term : 'congenital diaphragmatic hernia' added !
127110view13:39, 3 August 2023Fehrhartcorrection in progress
127109view13:33, 3 August 2023FehrhartModified description
127108view13:32, 3 August 2023FehrhartOntology Term : 'chromosomal deletion syndrome' added !
127107view13:30, 3 August 2023Fehrhartcorrection in progress
127106view08:59, 3 August 2023Fehrhartcorrection in progress
127105view07:54, 3 August 2023Fehrhartcorrection in progress
127104view16:07, 2 August 2023Fehrhartcorrection in progress
127103view15:03, 2 August 2023Fehrhartcorrections in progress
126453view19:54, 30 April 2023AlexanderPicoOntology Term : 'disease pathway' added !
126452view19:54, 30 April 2023AlexanderPicoOntology Term : 'chromosomal duplication syndrome' added !
126042view12:46, 29 March 2023FehrhartModified title
126000view21:11, 24 March 2023EgonwMade three pathways clickable
125998view21:08, 24 March 2023EgonwUse Ensembl
125937view17:27, 22 March 2023RensEikelboomModified title
125936view17:25, 22 March 2023RensEikelboomNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
2 (2E,6E)-farnesyl diphosphateMetabolite175763 (ChEBI)
2'-deoxyribonucleotide-(2'-

deoxyribose 5'-phosphate)-

2'-deoxyribonucleotide-DNA		Metabolite167181 (ChEBI)
3'-end 2'-deoxyribonucleotide-

(2,3-dehydro-2,3-deoxyribose

5'-phosphate)-DNA		Metabolite157695 (ChEBI)
4-O-(ADP-D-ribosyl)-L-aspartyl residueMetaboliteCHEBI:138102 (ChEBI)
5'-end 5'-monophospho- 2'-deoxyribonucleoside-DNAMetabolite136412 (ChEBI)
ADPMetaboliteCHEBI:456216 (ChEBI)
AP-1GeneProductIPR000837 (InterPro)
ATPMetaboliteCHEBI:30616 (ChEBI)
AXIN1GeneProductENSG00000103126 (Ensembl)
BLKGeneProductENSG00000136573 (Ensembl)
BMP1GeneProductENSG00000168487 (Ensembl)
Base excision repairPathwayWP4752 (WikiPathways)
Beta-catenin independent WNT signalingPathwayWP3558 (WikiPathways)
C8orf12GeneProductENSG00000184608 (Ensembl)
C8orf49GeneProductENSG00000255394 (Ensembl)
C8orf74GeneProductENSG00000171060 (Ensembl)
CGASGeneProductENSG00000164430 (Ensembl)
CLDN23GeneProductENSG00000253958 (Ensembl)
CSTAGeneProductENSG00000121552 (Ensembl)
CTNNB1GeneProductENSG00000168036 (Ensembl)
CTSBGeneProductENSG00000164733 (Ensembl)
CTSDGeneProductENSG00000117984 (Ensembl)
DEFB134GeneProductENSG00000205882 (Ensembl)
DEFB135GeneProductENSG00000205883 (Ensembl)
DEFB136GeneProductENSG00000205884 (Ensembl)
DiphosphateMetabolite33019 (ChEBI)
ERI1GeneProductENSG00000104626 (Ensembl)
FAM167AGeneProductENSG00000154319 (Ensembl)
FCGR2AGeneProductENSG00000143226 (Ensembl)
FCGR2BGeneProductENSG00000072694 (Ensembl)
FCGR2CGeneProductENSG00000244682 (Ensembl)
FDFT1GeneProductENSG00000079459 (Ensembl)
GATA4GeneProductENSG00000136574 (Ensembl)
H+Metabolite15378 (ChEBI)
H+MetaboliteCHEBI:15378 (ChEBI)
H2OMetabolite15377 (ChEBI)
HEPACAM2GeneProductENSG00000188175 (Ensembl)
HSPD1GeneProductENSG00000144381 (Ensembl)
L-aspartylMetaboliteCHEBI:29958 (ChEBI)
L-methionyl-(S)-S-oxide-[protein]Metabolite29950 (ChEBI)
L-methionyl-[protein]Metabolite16044 (ChEBI)
L-tyrosyl-[protein]Metabolite46858 (ChEBI)
LipopolysaccharideMetaboliteHMDB0254119 (HMDB)
MAPK1GeneProductENSG00000100030 (Ensembl)
MAPK3GeneProductENSG00000102882 (Ensembl)
MCRS1GeneProductENSG00000187778 (Ensembl)
MEPEGeneProductENSG00000152595 (Ensembl)
MFHAS1GeneProductENSG00000147324 (Ensembl)
MSRAGeneProductENSG00000175806 (Ensembl)
MTMR6GeneProductENSG00000139505 (Ensembl)
MTMR7GeneProductENSG00000003987 (Ensembl)
MTMR8GeneProductENSG00000102043 (Ensembl)
MTMR9GeneProductENSG00000104643 (Ensembl)
Mg2+MetaboliteCHEBI:18420 (ChEBI)
NAD+MetaboliteCHEBI:15846 (ChEBI)
NADP+Metabolite58349 (ChEBI)
NADPHMetabolite57783 (ChEBI)
NEIL2GeneProductENSG00000154328 (Ensembl)
NKX6-1GeneProductENSG00000163623 (Ensembl)
NUMA1GeneProductENSG00000137497 (Ensembl)
O-phospho-L-tyrosyl-[protein]Metabolite82620 (ChEBI)
PDX1GeneProductENSG00000139515 (Ensembl)
PINX1GeneProductENSG00000258724 (Ensembl)
PPP1R3BGeneProductENSG00000173281 (Ensembl)
PRSS51GeneProductENSG00000253649 (Ensembl)
PRSS55GeneProductENSG00000184647 (Ensembl)
Proteasome degradationPathwayWP183 (WikiPathways)
RAF1GeneProductENSG00000132155 (Ensembl)
RNAMetaboliteCHEBI:33697 (ChEBI)
RP1L1GeneProductENSG00000183638 (Ensembl)
S100A10GeneProductENSG00000197747 (Ensembl)
SGPL1GeneProductENSG00000166224 (Ensembl)
SLBPGeneProductENSG00000163950 (Ensembl)
SLC2A4GeneProductENSG00000181856 (Ensembl)
SLC35G5GeneProductENSG00000177710 (Ensembl)
SOX7GeneProductENSG00000171056 (Ensembl)
Sphingolipid metabolismPathwayWP4725 (WikiPathways)
SqualeneMetabolite15440 (ChEBI)
TBX5GeneProductENSG00000089225 (Ensembl)
TERF1GeneProductENSG00000147601 (Ensembl)
TERTGeneProductENSG00000164362 (Ensembl)
TLR2GeneProductENSG00000137462 (Ensembl)
TLR4GeneProductENSG00000136869 (Ensembl)
TNKSGeneProductENSG00000173273 (Ensembl)
TalazoparibMetabolite3137320 (ChEMBL compound)
WNT signalingPathwayWP428 (WikiPathways)
XAV939MetaboliteQ27132250 (Wikidata)
XKR6GeneProductENSG00000171044 (Ensembl)
[thioredoxin]-disulfideMetabolite50058 (ChEBI)
[thioredoxin]-dithiolMetabolite44120 (ChEBI)
nicotinamideMetaboliteCHEBI:17154 (ChEBI)
p38 MAPK signaling pathwayPathwayWP400 (WikiPathways)

Annotated Interactions

View all...
SourceTargetTypeDatabase referenceComment
2'-deoxyribonucleotide-(2'-

deoxyribose 5'-phosphate)-

2'-deoxyribonucleotide-DNA		mim-conversion66592 (Rhea)
BLKmim-catalysis10596 (Rhea)
FDFT1mim-catalysis32295 (Rhea)
MSRAmim-catalysis14217 (Rhea) https://www.uniprot.org/uniprotkb/Q9UJ68/entry
NEIL2mim-catalysis66592 (Rhea) https://www.uniprot.org/uniprotkb/Q969S2/entry
mim-conversion10596 (Rhea)
mim-conversion14217 (Rhea)
mim-conversion32295 (Rhea)
Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP5346"
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