4p16.3 copy number variation (Homo sapiens)

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11111034, 8, 1826, 94, 8, 186, 92212, 14, 1519-21323-251, 5, 7, 10, 1311, 16, 1726Plays an essential role in adipogenesis, by regulating expression of genes involvedin pre-adipocyte differentiationChondrocyte proliferation, differentiation, and apoptosisStabilization of the kinetochorefibers of the mitotic spindleFunction unknownDopamine uptakechr4:1,552,030MethamphetamineAttenuatesProtein degradationError-prone DNA polymerase that often misincorporatesdT regardless of template sequenceMay play an important role in neural developmentbut details unknownFunction unknownRNA polymerase II elongation of transcriptionTMEM129H3F3AC4orf48Linker histone H1 and H5 familyNAT8LL-aspartateFGFR3MAPK1CKAP5protonCa2+NELFBSLBPPOLNCBLFGF2ERI1PI3K-AKT1 signaling pathwayK+FAM53ANELFABCS1LLETM1MAPK3NELFESCARNA22NSD2TNF-alphaUBE2J2N-acetylaspartic acidCLTCL1TACC3Core histone H2A/H2B/H3/H4MIR943NELFC/Dacetyl-CoAFRS2PLCG1GRB2SOS1PIK3R1GAB1Inositol 1,4,5-trisphosphateTACC3TMEM129FRS2PH3F3AMMNELFADopamine uptakeCBLPPLCG1PFunction unknownCa2+protonprotonK+protonCatalysisBindingMethylatedLEGENDInhibitionPhosphorylatedConversionStimulationPMchr4:2,091,303Core histone H2A/H2B/H3/H4Linker histone H1 and H5 family19-2123-25


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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
GeneProduct
BCS1LGeneProductENSG00000074582 (Ensembl)
C4orf48GeneProductENSG00000243449 (Ensembl)
CBLGeneProductENSG00000110395 (Ensembl)
CKAP5GeneProductENSG00000175216 (Ensembl)
CLTCL1GeneProductENSG00000070371 (Ensembl)
Ca2+MetaboliteCHEBI:29108 (ChEBI)
Core histone H2A/H2B/H3/H4ProteinPF00125 (Pfam)
ERI1GeneProductENSG00000104626 (Ensembl)
FAM53AGeneProductENSG00000174137 (Ensembl)
FGF2GeneProductENSG00000138685 (Ensembl)
FGFR3GeneProductENSG00000068078 (Ensembl)
FRS2GeneProductENSG00000166225 (Ensembl)
GAB1GeneProductENSG00000109458 (Ensembl)
GRB2GeneProductENSG00000177885 (Ensembl)
H3F3AGeneProduct3020 (Entrez Gene)
Inositol 1,4,5-trisphosphateMetaboliteCHEBI:16595 (ChEBI)
K+MetaboliteCHEBI:29103 (ChEBI)
L-aspartateMetaboliteQ27125522 (Wikidata)
LETM1GeneProductENSG00000168924 (Ensembl)
Linker histone H1 and H5 familyProteinPF00538 (Pfam)
MAPK1GeneProductENSG00000100030 (Ensembl)
MAPK3GeneProductENSG00000102882 (Ensembl)
MIR943GeneProductENSG00000284587 (Ensembl)
N-acetylaspartic acidMetaboliteCHEBI:21547 (ChEBI)
NAT8LGeneProductENSG00000185818 (Ensembl)
NELFAGeneProductENSG00000185049 (Ensembl)
NELFBGeneProductENSG00000188986 (Ensembl)
NELFC/DGeneProductENSG00000101158 (Ensembl)
NELFEGeneProductENSG00000204356 (Ensembl)
NSD2GeneProductENSG00000109685 (Ensembl)
PI3K-AKT1 signaling pathwayPathwaymap04151 (KEGG Pathway)
PIK3R1GeneProductENSG00000145675 (Ensembl)
PLCG1GeneProductENSG00000124181 (Ensembl)
POLNGeneProductENSG00000130997 (Ensembl)
SCARNA22GeneProductENSG00000249784 (Ensembl)
SLBPGeneProductENSG00000163950 (Ensembl)
SOS1GeneProductENSG00000115904 (Ensembl)
TACC3GeneProductENSG00000013810 (Ensembl)
TMEM129GeneProductENSG00000168936 (Ensembl)
TNF-alphaGeneProductENSG00000232810 (Ensembl)
UBE2J2GeneProductENSG00000160087 (Ensembl)
acetyl-CoAMetaboliteCHEBI:84554 (ChEBI)
protonMetaboliteCHEBI:24636 (ChEBI)

Annotated Interactions

No annotated interactions

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