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

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13398951504725163528262013515023345382923122722415164424191911464633413673921730823274515153016472751434644Cardiac-super-enhancersCardiac developmentSpindle pole assemblyVesicle trafickingInvolved in histone regulationUnknown functionM1 macrophage polarisationAutophagyInsulin secretionCardiac specific gene expressionSugar and nucleotidetransporterProbably nvolved inglycogen breakdownchr8:11,872,558TelomeresTelomere shorteningdifferentiation of photo-receptor cellsTight junctionPrometaphaseantibacterial activitychr8:8,098,990C8orf74SLBPCLDN23ATPSGPL1TERTWNT signalingLipopolysaccharidePRSS51H+CTSBMTMR8C8orf12L-methionyl-(S)-S-oxide-[protein]NUMA1DiphosphateL-tyrosyl-[protein]TBX5DEFB136FDFT1L-aspartylMCRS1H+TERF1MSRANKX6-1HSPD1TalazoparibTNKSTERF1XKR6MAPK3nicotinamide2'-deoxyribonucleotide-(2'-deoxyribose 5'-phosphate)-2'-deoxyribonucleotide-DNASOX7AP-1FCGR2BSLC35G5MTMR6BLKCGASADPSphingolipid metabolism[thioredoxin]-disulfideMEPEPPP1R3BFCGR2AC8orf49XAV939BMP1MAPK12 (2E,6E)-farnesyl diphosphateTLR43'-end 2'-deoxyribonucleotide-(2,3-dehydro-2,3-deoxyribose 5'-phosphate)-DNACTSDRP1L1O-phospho-L-tyrosyl-[protein]HEPACAM2p38 MAPK signaling pathwayRAF1PDX1RNAMg2+[thioredoxin]-dithiolBase excision repairBeta-catenin independent WNT signalingNADPHNADP+4-O-(ADP-D-ribosyl)-L-aspartyl residueAXIN15'-end 5'-monophospho-2'-deoxyribonucleoside-DNASLC2A4MTMR9H2OCSTANAD+SqualeneERI1TLR2PINX1FCGR2CL-methionyl-[protein]GATA4MFHAS1CTNNB1H+FAM167ANEIL2Proteasome degradationMTMR7S100A10PRSS55DEFB135DEFB134Unknown functionUnknown functionUnknown functionUnknown functionUnknown functionFCGR2AFCGR2BFCGR2C30303030PPPCGASPUnknown 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
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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