4p16.3 Copy Number Variation

Description

Genomic location GRCh37/hg19

Chr4:1552030-2091303

Disorder Information from Orphanet

1. ORPHA: 96072 Microduplication syndrome
   OMIM:
   Disease description: No description available.
   World-wide prevalence: Unknown
   Very frequent (99–80%) phenotypic features: No phenotypic features available.

Interactive Pathway Viewer

Gene Information

HGNC	Gene Name	NCBI	Ensembl	UniProt
FAM53A	family with sequence similarity 53 member A	152877	ENSG00000174137	Q6NSI3
SLBP	stem-loop histone mRNA binding protein	7884	ENSG00000163950	Q14493
TMEM129	transmembrane protein 129, E3 ubiquitin ligase	92305	ENSG00000168936	A0AVI4
TACC3	transforming acidic coiled-coil containing protein 3	10460	ENSG00000013810	Q9Y6A5
FGFR3	fibroblast growth factor receptor 3	2261	ENSG00000068078	P22607
LETM1	leucine zipper and EF-hand containing transmembrane protein 1	3954	ENSG00000168924	O95202
NSD2	nuclear receptor binding SET domain protein 2	7468	ENSG00000109685	O96028
NELFA	negative elongation factor complex member A	7469	ENSG00000185049	Q9H3P2
NICOL1	NELL2 interacting cell ontogeny regulator 1	401115	ENSG00000243449	Q5BLP8
NAT8L	N-acetyltransferase 8 like	339983	ENSG00000185818	Q8N9F0
POLN	DNA polymerase nu	353497	ENSG00000130997	Q7Z5Q5