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

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1819625374115142221712264139307423181425043292548403346224249433104345213023464045233130362617442114125515121antibacterial activityTelomere shorteningchr8:11,872,558M1 macrophage polarisationUnknown functionTelomeresTight junctionCardiac specific gene expressionCardiac-super-enhancersCardiac developmentVesicle trafickingInvolved in histone regulationInsulin secretionPrometaphasechr8:8,098,990Spindle pole assemblyAutophagyProbably nvolved inglycogen breakdowndifferentiation of photo-receptor cellsSugar and nucleotidetransporterFAM167AL-methionyl-(S)-S-oxide-[protein]TNKSSLC35G5CSTASLC2A4RP1L1HEPACAM2HSPD1MTMR6O-phospho-L-tyrosyl-[protein]MSRAC8orf742 (2E,6E)-farnesyl diphosphate3'-end 2'-deoxyribonucleotide-(2,3-dehydro-2,3-deoxyribose 5'-phosphate)-DNAMAPK1NADP+NADPHPPP1R3BH+NAD+SLBPC8orf49Mg2+BLKADPXAV939TLR2L-tyrosyl-[protein]SGPL1H2OSOX7LipopolysaccharideBMPREFDFT1DiphosphateCTSBTalazoparibCLDN235'-end 5'-monophospho-2'-deoxyribonucleoside-DNARNAMFHAS1GATA4NEIL2[thioredoxin]-disulfideBase excision repairProteasome degradationBeta-catenin independent WNT signalingDEFB136nicotinamideFCGR2AERI1MTMR8MTMR9PDX1NKX6-1BMPFCGR2C4-O-(ADP-D-ribosyl)-L-aspartyl residueS100A10TLR4TERF1FCGR2BH+L-methionyl-[protein]p38 MAPK signaling pathwayC8orf12ANFL-aspartylPRSS55PINX1ATPMCRS1AXIN1MEPESqualeneSphingolipid metabolismXKR6TERTRAF1[thioredoxin]-dithiolH+MAPK3TERF1CGASMTMR7TBX5NUMA1PRSS51WNT signaling2'-deoxyribonucleotide-(2'-deoxyribose 5'-phosphate)-2'-deoxyribonucleotide-DNACTNNB1AP-1CTSDDEFB135DEFB134Unknown functionUnknown functionUnknown functionUnknown functionUnknown functionFCGR2AFCGR2BFCGR2C45454545PPPCGASPUnknown 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)
ANFGeneProduct
AP-1GeneProduct
ATPMetaboliteCHEBI:30616 (ChEBI)
AXIN1GeneProductENSG00000103126 (Ensembl)
BLKGeneProductENSG00000136573 (Ensembl)
BMPProtein
BMPREGeneProduct
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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