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

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1845225491521302942425612251745304118315139417504610343214843263622214037145122314330442614332134046192214723Involved in histone regulationTight junctionProbably nvolved inglycogen breakdownInsulin secretiondifferentiation of photo-receptor cellsPrometaphaseTelomereschr8:11,872,558AutophagyCardiac specific gene expressionCardiac-super-enhancersCardiac developmentTelomere shorteningchr8:8,098,990Spindle pole assemblyVesicle trafickingM1 macrophage polarisationUnknown functionSugar and nucleotidetransporterantibacterial activityBMPRES100A10O-phospho-L-tyrosyl-[protein]Mg2+ADPDEFB136BMPFAM167ACGASMTMR7XKR6MAPK12'-deoxyribonucleotide-(2'-deoxyribose 5'-phosphate)-2'-deoxyribonucleotide-DNA3'-end 2'-deoxyribonucleotide-(2,3-dehydro-2,3-deoxyribose 5'-phosphate)-DNAAP-1FDFT1MSRAMCRS1CSTANEIL2ATPRNAGATA4WNT signalingBeta-catenin independent WNT signalingMTMR65'-end 5'-monophospho-2'-deoxyribonucleoside-DNAnicotinamideMTMR9NKX6-1TERF1TLR2TERTC8orf74NADPHSLC2A4CTSBNUMA1TLR4CTNNB1H+RAF1XAV939PPP1R3BTERF1NADP+TBX5PINX1TNKSNAD+FCGR2AMTMR8DiphosphateC8orf12Proteasome degradationH2OL-aspartylPRSS51CLDN23ANFSLBPBase excision repairRP1L1HEPACAM2H+SqualeneC8orf49BLKL-methionyl-(S)-S-oxide-[protein]CTSDSphingolipid metabolismPDX1FCGR2CH+MEPEPRSS55[thioredoxin]-dithiolSLC35G5HSPD1Talazoparib2 (2E,6E)-farnesyl diphosphateAXIN1LipopolysaccharideMAPK3ERI1[thioredoxin]-disulfideSGPL1SOX7L-methionyl-[protein]p38 MAPK signaling pathwayL-tyrosyl-[protein]MFHAS1FCGR2B4-O-(ADP-D-ribosyl)-L-aspartyl residueDEFB135DEFB134Unknown functionUnknown functionUnknown functionUnknown functionUnknown functionFCGR2AFCGR2BFCGR2C45454545PPPCGASPUnknown function


Description

Pathway of relevant genes on the chromosome 8p23.1 duplication / deletion syndrome

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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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