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

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203443322232432011816122137201213361961452727264017342683241311526372829125343126406111391434394223103225431630247203813209104135Solubilization of cross-linked TGCardiomyocyte gene expressionFurther differentiation into blood porecursorsB-lymphocyte development, differentiation and signalingPhosphorylated phosphatidylinositolsUnknown functionTight junctions-specific obliteration of the intercellular spaceCardiac myocyte enlargementCardiac development and functionChromosome segregationTumor invasion and metastasisTumor suppressorCardiac-super-enhancersdifferentiation of photo-receptor cellsTelomerase, cell proliferationM1 macrophage polarisationTesticular developmentTalazoparibNGF-induced neurite outgrowthPrometaphaseIntracellular degradation and turnover of proteinsPre-BCR-mediated NF-kappa-B activation Phosphorylation of CGASInvolved in glycogen breakdownDNA damage-induced apoptosisLate stage macropinocytosisEndocardial / endothelial gene expressionInvolved in histone regulationrepair enzyme for proteins that have been inactivated by oxidationAutophagyTelomere shorteningTelomeresInvolved in base excision repair of damaged DNAthrough oxidation or binding mutagenic agentsTransmitting signals through surface immunoglobulinsSupports the pro-B to pre-B transitionSignaling for growth arrest and apoptosis downstream of B-cell receptorInsulin secretionVesicle trafickingSpindle pole assemblyCardiac specific gene expressionMyotubularin-related phosphatasesMTMR9PRSS55WNT signalingNotch signalingSphingosine-1-phosphate lyaseAP-1NAD+L-tyrosyl-[protein]L-methionyl-[protein]p38 & JNK MAPKFYNO-phospho-L-tyrosyl-[protein]ANF 4-O-(ADP-D-ribosyl)-L-aspartyl2 (2E,6E)-farnesyl diphosphateTERTTLR2LYNNUMA12 diphosphate[thioredoxin]-dithiolTRF1NADP+FDFT1NKX6-1CLDN23TLR4BMPREBMPSphingosine-1-phosphateTNKSH2O3'-end 2'-deoxyribonucleotide-(2,3-dehydro-2,3-deoxyribose 5'-phosphate)-DNAH+ERI1Wnt/Beta-cateninMTMR7CD79ARHOATBX5PKB/AKTADPSOX7TERF1L-aspartylMagnesiumFGF3 PromotorGLUT4GTPH+XAV939AXIN1SqualeneRP1L1NADPHATPPDX1CDH52'-deoxyribonucleotide-(2'-deoxyribose 5'-phosphate)-2'-deoxyribonucleotide-DNARND2H+MEPECDH5SFKBTKCTSBNicotinamideMTMR8MTMR6NEIL2BLKPINX126S-proteasomeSLBP5'-end 5'-monophospho-2'-deoxyribonucleoside-DNAGATA4HEPACAM2PPP1R3BMFHAS1L-methionyl-(S)-S-oxide-[protein]PRAG1MSRAERK1/ERK2[thioredoxin]-disulfideCD79B


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
4-O-(ADP-D-ribosyl)-L-aspartylProtein
2 (2E,6E)-farnesyl diphosphateMetabolite
2 diphosphateMetabolite
2'-deoxyribonucleotide-(2'-

deoxyribose 5'-phosphate)-

2'-deoxyribonucleotide-DNA		Metabolite
26S-proteasomeProtein
3'-end 2'-deoxyribonucleotide-

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

5'-phosphate)-DNA		Metabolite
5'-end 5'-monophospho- 2'-deoxyribonucleoside-DNAMetabolite
ADPMetabolite
ANFGeneProduct
AP-1GeneProduct
ATPMetabolite
AXIN1GeneProductENSG00000103126 (Ensembl)
BLKGeneProductENSG00000136573 (Ensembl)
BMPProtein
BMPREGeneProduct
BTKGeneProductENSG00000010671 (Ensembl)
CD79AGeneProduct
CD79BGeneProduct
CDH5GeneProductENSG00000179776 (Ensembl)
CLDN23GeneProductENSG00000253958 (Ensembl)
CTSBGeneProductENSG00000164733 (Ensembl)
ERI1GeneProductENSG00000104626 (Ensembl)
ERK1/ERK2Pathway
FDFT1GeneProductENSG00000079459 (Ensembl)
FGF3 PromotorGeneProductENSG00000186895 (Ensembl)
FYNGeneProductENSG00000010810 (Ensembl)
GATA4GeneProductENSG00000136574 (Ensembl)
GLUT4GeneProduct
GTPProtein
H+Metabolite
H2OMetabolite
HEPACAM2GeneProductENSG00000188175 (Ensembl)
L-aspartylProtein
L-methionyl-(S)-S-oxide-[protein]Metabolite
L-methionyl-[protein]Metabolite
L-tyrosyl-[protein]Metabolite
LYNGeneProductENSG00000254087 (Ensembl)
MEPEGeneProductENSG00000152595 (Ensembl)
MFHAS1GeneProductENSG00000147324 (Ensembl)
MSRAGeneProductENSG00000175806 (Ensembl)
MTMR6GeneProductENSG00000139505 (Ensembl)
MTMR7GeneProductENSG00000003987 (Ensembl)
MTMR8GeneProductENSG00000102043 (Ensembl)
MTMR9GeneProductENSG00000104643 (Ensembl)
MagnesiumMetabolite
NAD+Metabolite
NADP+Metabolite
NADPHMetabolite
NEIL2GeneProductENSG00000154328 (Ensembl)
NKX6-1GeneProductENSG00000163623 (Ensembl)
NUMA1GeneProductENSG00000137497 (Ensembl)
NicotinamideMetabolite
Notch signalingPathwayWP268 (WikiPathways)
O-phospho-L-tyrosyl-[protein]Metabolite
PDX1GeneProductENSG00000139515 (Ensembl)
PINX1GeneProductENSG00000258724 (Ensembl)
PKB/AKTPathwayWP712 (WikiPathways)
PPP1R3BGeneProductENSG00000173281 (Ensembl)
PRAG1GeneProductENSG00000275342 (Ensembl)
PRSS55GeneProductENSG00000184647 (Ensembl)
RHOAGeneProductENSG00000067560 (Ensembl)
RND2GeneProductRND2 (HGNC)
RP1L1GeneProductENSG00000183638 (Ensembl)
SFKProtein
SLBPGeneProductENSG00000163950 (Ensembl)
SOX7GeneProductENSG00000171056 (Ensembl)
Sphingosine-1-phosphateProtein
Sphingosine-1-phosphate lyaseProtein
SqualeneMetabolite
TBX5GeneProductENSG00000089225 (Ensembl)
TERF1GeneProductENSG00000147601 (Ensembl)
TERTGeneProductENSG00000164362 (Ensembl)
TLR2GeneProductENSG00000137462 (Ensembl)
TLR4GeneProductENSG00000136869 (Ensembl)
TNKSGeneProductENSG00000173273 (Ensembl)
TRF1Protein
WNT signalingPathway
Wnt/Beta-cateninPathwayWP3558 (WikiPathways)
XAV939
[thioredoxin]-disulfideMetabolite
[thioredoxin]-dithiolMetabolite
p38 & JNK MAPKProtein

Annotated Interactions

No annotated interactions

Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP5346"
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