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

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3333171922437228452316720933312224271016392240611373163413183941281138153040121521384133141540333044343628134029912737261025Testicular developmentTumor invasion and metastasisB-lymphocyte development, differentiation and signalingSolubilization of cross-linked TGVesicle trafickingAutophagyInvolved in histone regulationCardiac-super-enhancersCardiomyocyte gene expressionPhosphorylated phosphatidylinositolsM1 macrophage polarisationUnknown functionCardiac myocyte enlargementPhosphorylation of CGASTransmitting signals through surface immunoglobulinsSupports the pro-B to pre-B transitionSignaling for growth arrest and apoptosis downstream of B-cell receptorProbably nvolved inglycogen breakdownDNA damage-induced apoptosisEndocardial / endothelial gene expressionCardiac specific gene expressionTelomere shorteningIntracellular degradation and turnover of proteinsTight junctionMyotubularin-related phosphatasesdifferentiation of photo-receptor cellsPre-BCR-mediated NF-kappa-B activation Cardiac development and functionLate stage macropinocytosisPrometaphaseSpindle pole assemblyTelomeresInvolved in base excision repair of damaged DNAthrough oxidation or binding mutagenic agentsInsulin secretion2'-deoxyribonucleotide-(2'-deoxyribose 5'-phosphate)-2'-deoxyribonucleotide-DNAXAV939H+CD79ANKX6-1FYNp38 MAPK signaling pathwayC8orf74L-methionyl-[protein]SqualeneNUMA1Proteasome degradationL-methionyl-(S)-S-oxide-[protein]Sphingosine-1-phosphateSOX7CTSBMTMR9Sphingosine-1-phosphate lyaseDEFB136FDFT1BTKMCRS1TERF1H+MSRAPRSS51TLR4O-phospho-L-tyrosyl-[protein]HEPACAM2TalazoparibERI1MTMR8L-tyrosyl-[protein]TERTAP-1H+Mg2+[thioredoxin]-disulfideBeta-catenin independent WNT signalingMTMR7LYNMEPEADP2 diphosphateGATA4RAF1CLDN23CTNNB1MAPK12 (2E,6E)-farnesyl diphosphateRP1L13'-end 2'-deoxyribonucleotide-(2,3-dehydro-2,3-deoxyribose 5'-phosphate)-DNASLBPBMPXKR6FAM167ABLKPRSS55HSPD15'-end 5'-monophospho-2'-deoxyribonucleoside-DNAWNT signaling[thioredoxin]-dithiolANFNAD+NADPHNADP+RNAPDX1AXIN1SLC2A4H2OTLR2MTMR6ATPSLC35G5C8orf12nicotinamide4-O-(ADP-D-ribosyl)-L-aspartyl residueCD79BC8orf49TERF1PPP1R3BMFHAS1MAPK3BMPRENEIL2TNKSTBX5PINX1L-aspartylDEFB135DEFB134Unknown functionUnknown functionUnknown 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 diphosphateMetabolite
2 diphosphateMetabolite
2'-deoxyribonucleotide-(2'-

deoxyribose 5'-phosphate)-

2'-deoxyribonucleotide-DNA
Metabolite
3'-end 2'-deoxyribonucleotide-

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

5'-phosphate)-DNA
Metabolite
4-O-(ADP-D-ribosyl)-L-aspartyl residueMetaboliteCHEBI:138102 (ChEBI)
5'-end 5'-monophospho- 2'-deoxyribonucleoside-DNAMetabolite
ADPMetabolite
ANFGeneProduct
AP-1GeneProduct
ATPMetabolite
AXIN1GeneProductENSG00000103126 (Ensembl)
BLKGeneProductENSG00000136573 (Ensembl)
BMPProtein
BMPREGeneProduct
BTKGeneProductENSG00000010671 (Ensembl)
Beta-catenin independent WNT signalingPathwayWP3558 (WikiPathways)
C8orf12GeneProductENSG00000184608 (Ensembl)
C8orf49GeneProductENSG00000255394 (Ensembl)
C8orf74GeneProductENSG00000171060 (Ensembl)
CD79AGeneProduct
CD79BGeneProduct
CLDN23GeneProductENSG00000253958 (Ensembl)
CTNNB1GeneProductENSG00000168036 (Ensembl)
CTSBGeneProductENSG00000164733 (Ensembl)
DEFB134GeneProductENSG00000205882 (Ensembl)
DEFB135GeneProductENSG00000205883 (Ensembl)
DEFB136GeneProductENSG00000205884 (Ensembl)
ERI1GeneProductENSG00000104626 (Ensembl)
FAM167AGeneProductENSG00000154319 (Ensembl)
FDFT1GeneProductENSG00000079459 (Ensembl)
FYNGeneProductENSG00000010810 (Ensembl)
GATA4GeneProductENSG00000136574 (Ensembl)
H+Metabolite
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]Metabolite
LYNGeneProductENSG00000254087 (Ensembl)
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+Metabolite
NADPHMetabolite
NEIL2GeneProductENSG00000154328 (Ensembl)
NKX6-1GeneProductENSG00000163623 (Ensembl)
NUMA1GeneProductENSG00000137497 (Ensembl)
O-phospho-L-tyrosyl-[protein]Metabolite
PDX1GeneProductENSG00000139515 (Ensembl)
PINX1GeneProductENSG00000258724 (Ensembl)
PPP1R3BGeneProductENSG00000173281 (Ensembl)
PRSS51GeneProductENSG00000253649 (Ensembl)
PRSS55GeneProductENSG00000184647 (Ensembl)
Proteasome degradationPathwayWP183 (WikiPathways)
RAF1GeneProductENSG00000132155 (Ensembl)
RNAMetaboliteCHEBI:33697 (ChEBI)
RP1L1GeneProductENSG00000183638 (Ensembl)
SLBPGeneProductENSG00000163950 (Ensembl)
SLC2A4GeneProductENSG00000181856 (Ensembl)
SLC35G5GeneProductENSG00000177710 (Ensembl)
SOX7GeneProductENSG00000171056 (Ensembl)
Sphingosine-1-phosphateProtein
Sphingosine-1-phosphate lyaseProtein
SqualeneMetabolite
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

SourceTargetTypeDatabase referenceComment
MSRAmim-catalysis14217 (Rhea) https://www.uniprot.org/uniprotkb/Q9UJ68/entry
mim-conversion14217 (Rhea)
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