4p16.3 copy number variation (WP5365)
Homo sapiens
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).
Authors
Ewoud , Friederike Ehrhart , Kristina Hanspers , Eric Weitz , and Egon WillighagenActivity
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Cited In
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Organisms
Homo sapiensCommunities
Rare DiseasesAnnotations
Pathway Ontology
disease pathwayDisease Ontology
disease of mental healthLabel | Type | Compact URI | Comment |
---|---|---|---|
N-acetyl-L-aspartate | Metabolite | chebi:16953 | |
Ca2+ | Metabolite | chebi:29108 | |
Acetyl-CoA | Metabolite | chebi:57288 | |
L-aspartate | Metabolite | chebi:29991 | |
proton | Metabolite | chebi:24636 | |
K+ | Metabolite | chebi:29103 | |
Methamphetamine | Metabolite | chebi:6809 | |
Inositol 1,4,5-trisphosphate | Metabolite | chebi:16595 | |
SCARNA22 | GeneProduct | ensembl:ENSG00000249784 | |
NELFA | GeneProduct | ensembl:ENSG00000185049 | WHSC2 |
CKAP5 | GeneProduct | ensembl:ENSG00000175216 | |
H3F3A | GeneProduct | ncbigene:3020 | |
NELFCD | GeneProduct | ensembl:ENSG00000101158 | |
NELFE | GeneProduct | ensembl:ENSG00000204356 | |
FGF2 | GeneProduct | ensembl:ENSG00000138685 | |
FAM53A | GeneProduct | ensembl:ENSG00000174137 | |
CBL | GeneProduct | ensembl:ENSG00000110395 | |
MAPK3 | GeneProduct | ensembl:ENSG00000102882 | |
ERI1 | GeneProduct | ensembl:ENSG00000104626 | |
TACC3 | GeneProduct | ensembl:ENSG00000013810 | |
CLTCL1 | GeneProduct | ensembl:ENSG00000070371 | |
NSD2 | GeneProduct | ensembl:ENSG00000109685 | |
NAT8L | GeneProduct | ensembl:ENSG00000185818 | |
SLBP | GeneProduct | ensembl:ENSG00000163950 | |
NELFB | GeneProduct | ensembl:ENSG00000188986 | |
TMEM129 | GeneProduct | ensembl:ENSG00000168936 | |
MIR943 | GeneProduct | ensembl:ENSG00000284587 | |
C4orf48 | GeneProduct | ensembl:ENSG00000243449 | |
POLN | GeneProduct | ensembl:ENSG00000130997 | |
FGFR3 | GeneProduct | ensembl:ENSG00000068078 | |
UBE2J2 | GeneProduct | ensembl:ENSG00000160087 | |
BCS1L | GeneProduct | ensembl:ENSG00000074582 | |
MAPK1 | GeneProduct | ensembl:ENSG00000100030 | |
LETM1 | GeneProduct | ensembl:ENSG00000168924 | |
FRS2 | GeneProduct | ensembl:ENSG00000166225 | |
PLCG1 | GeneProduct | ensembl:ENSG00000124181 | |
GRB2 | GeneProduct | ensembl:ENSG00000177885 | |
SOS1 | GeneProduct | ensembl:ENSG00000115904 | |
PIK3R1 | GeneProduct | ensembl:ENSG00000145675 | |
GAB1 | GeneProduct | ensembl:ENSG00000109458 | |
NELFA | GeneProduct | ensembl:ENSG00000185049 | |
Core histone H2A/H2B/H3/H4 | Protein | pfam:PF00125 | |
Linker histone H1 and H5 family | Protein | pfam:PF00538 |
References
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