4p16.3 copy number variation (Homo sapiens)

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1, 10, 11152, 934-81, 10, 11131312, 14, 15152, 9In ESNKX2-5 target genesPlays an essential role in adipogenesis, by regulating expression of genes involvedin pre-adipocyte differentiationStabilization of the kinetochorefibers of the mitotic spindleDuring heart developmentAttenuatesDopamine uptakeError-prone DNA polymerase that often misincorporatesdT regardless of template sequenceProtein degradationMethamphetamineRNA polymerase II elongation of transcriptionchr4:1,552,030L-aspartateNAT8LNKX2-5NELFC/DLETM1CLTCL1NSD2MIR943TACC3Cell proliferation, differentiation,and apoptosisUBE2J2NELFENELFACBLNELFBTMEM129MAPK3N-acetylaspartic acidacetyl-CoASALL1MAPK1POLNC4orf48CKAP5H3K36FGFR3AKT1 signaling pathwaySCARNA22FAM53AChondrocyte proliferation, differentiation, and apoptosisSLBPTNF-alphaMAP kinase signaling pathwayFRS2PLCG1GRB2SOS1PIK3R1GAB1Inositol 1,4,5-trisphosphateTACC3TMEM129CBLFRS2PLCG1PPPH3K36MMNELFADopamine uptake


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Bibliography

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History

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CompareRevisionActionTimeUserComment
134526view14:18, 22 July 2024EgonwAdded the missing datasource
134501view06:47, 22 July 2024EgonwRemoved template comments
134451view00:01, 22 July 2024EweitzOntology Term : 'disease of mental health' added !
127455view18:38, 3 October 2023KhanspersUpdated legend from interactions to graphical lines
127068view09:11, 27 July 2023FehrhartModified description
127067view09:06, 27 July 2023FehrhartOntology Term : 'disease pathway' added !
127066view09:04, 27 July 2023Fehrhartcorrection and updates
127065view08:45, 27 July 2023Fehrhartcorrection and updates
126852view10:07, 27 June 2023Ewoud
126577view15:02, 4 June 2023Ewoudfiller
126576view14:58, 4 June 2023Ewoudfiller
126529view11:43, 25 May 2023EwoudNew pathway

External references

DataNodes

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NameTypeDatabase referenceComment
AKT1 signaling pathwayPathway
C4orf48GeneProductENSG00000243449
CBLGeneProductENSG00000110395 (Ensembl)
CKAP5GeneProductENSG00000175216 (Ensembl)
CLTCL1GeneProductENSG00000070371 (Ensembl)
Cell proliferation, differentiation, and apoptosisPathway
Chondrocyte proliferation, differentiation, and apoptosisPathway
FAM53AGeneProductENSG00000174137
FGFR3GeneProductENSG00000068078
FRS2GeneProductENSG00000166225 (Ensembl)
GAB1GeneProductENSG00000109458 (Ensembl)
GRB2GeneProductENSG00000177885 (Ensembl)
H3K36GeneProduct
Inositol 1,4,5-trisphosphateMetaboliteCHEBI:16595 (ChEBI)
L-aspartateMetaboliteQ27125522 (Wikidata)
LETM1GeneProductENSG00000168924
MAP kinase signaling pathwayPathway
MAPK1GeneProductENSG00000100030 (Ensembl)
MAPK3GeneProductENSG00000102882 (Ensembl)
MIR943GeneProductENSG00000284587
N-acetylaspartic acidMetaboliteCHEBI:21547 (ChEBI)
NAT8LGeneProductENSG00000185818
NELFAGeneProductENSG00000185049
NELFBGeneProductENSG00000188986 (Ensembl)
NELFC/DGeneProductENSG00000101158 (Ensembl)
NELFEGeneProductENSG00000204356 (Ensembl)
NKX2-5GeneProductENSG00000183072 (Ensembl)
NSD2GeneProductENSG00000109685
PIK3R1GeneProductENSG00000145675 (Ensembl)
PLCG1GeneProductENSG00000124181 (Ensembl)
POLNGeneProductENSG00000130997
SALL1GeneProductENSG00000103449 (Ensembl)
SCARNA22GeneProductENSG00000249784
SLBPGeneProductENSG00000163950
SOS1GeneProductENSG00000115904 (Ensembl)
TACC3GeneProductENSG00000013810
TMEM129GeneProductENSG00000168936
TNF-alphaGeneProductENSG00000232810 (Ensembl)
UBE2J2GeneProductENSG00000160087 (Ensembl)
acetyl-CoAMetaboliteCHEBI:84554 (ChEBI)

Annotated Interactions

No annotated interactions

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