4p16.3 copy number variation (Homo sapiens)

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13, 14, 2625424516, 17, 2315661, 6, 11122, 12, 19-219, 10, 1816, 17, 237, 8, 223, 273, 275Dopamine uptakechr4:1,552,030May play an important role in neural developmentbut details unknownChondrocyte proliferation, differentiation, and apoptosisFunction unknownProtein degradationFunction unknownPossibly involved in neurodevelopmentError-prone DNA polymerase that often misincorporatesdT regardless of template sequenceStabilization of the kinetochorefibers of the mitotic spindlePlays an essential role in adipogenesis, by regulating expression of genes involvedin pre-adipocyte differentiationRNA polymerase II elongation of transcriptionSLBPNELFATMEM129BCS1LNELF negative elongation factor complexC4orf48LETM1POLNLinker histone H1 and H5 familyPI3K-AKT1 signaling pathwayNSD2Acetyl-CoANAT8LMIR943FGF2NELFCDCBLFGFR3protonNELFEUBE2J2K+FAM53AH3F3AN-acetyl-L-aspartateTACC3L-aspartateCLTCL1SCARNA22MethamphetamineERI1MAPK3Ca2+NELFBMAPK1CKAP5Core histone H2A/H2B/H3/H4FRS2PLCG1GRB2SOS1PIK3R1GAB1Inositol 1,4,5-trisphosphateTACC3TMEM129FRS2PH3F3AMMNELFACBLPPLCG1PFunction unknownCa2+protonprotonK+protonCatalysisBindingMethylatedLEGENDInhibitionPhosphorylatedConversionStimulationPMchr4:2,091,303Core histone H2A/H2B/H3/H4Linker histone H1 and H5 family7, 8, 229, 10, 18


Description

The Wolf-Hirschhorn syndrome is a rare genetic disorder caused by a microdeletion in the chromosomal region 4p16.3. Typical symptoms are a distinct facial morphology, intellectual disability, psychiatric disorders, seizures, and heart defects. The chromosomal position chr4:1,552,030-2,091,303 (GCRh37) was taken from Kirov et al. 2014 and literature cited there (10.1016/j.biopsych.2013.07.022).

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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
Acetyl-CoAMetaboliteCHEBI:57288 (ChEBI)
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-aspartateMetaboliteCHEBI:29991 (ChEBI)
LETM1GeneProductENSG00000168924 (Ensembl)
Linker histone H1 and H5 familyProteinPF00538 (Pfam)
MAPK1GeneProductENSG00000100030 (Ensembl)
MAPK3GeneProductENSG00000102882 (Ensembl)
MIR943GeneProductENSG00000284587 (Ensembl)
MethamphetamineMetaboliteCHEBI:6809 (ChEBI)
N-acetyl-L-aspartateMetaboliteCHEBI:16953 (ChEBI)
NAT8LGeneProductENSG00000185818 (Ensembl)
NELF negative elongation factor complexComplexCPX-6267 (Complex Portal)
NELFAGeneProductENSG00000185049 (Ensembl)
NELFBGeneProductENSG00000188986 (Ensembl)
NELFCDGeneProductENSG00000101158 (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)
UBE2J2GeneProductENSG00000160087 (Ensembl)
protonMetaboliteCHEBI:24636 (ChEBI)

Annotated Interactions

SourceTargetTypeDatabase referenceComment
N-acetyl-L-aspartatemim-conversion14165 (Rhea)
NAT8Lmim-catalysis14165 (Rhea)
Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP5365"
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