Gene: HNRNPU

Alternate names for this Gene: DEE54|EIEE54|GRIP120|HNRNPU-AS1|HNRPU|SAF-A|SAFA|U21.1|hnRNP U|pp120

Gene Summary: This gene encodes a member of a family of proteins that bind nucleic acids and function in the formation of ribonucleoprotein complexes in the nucleus with heterogeneous nuclear RNA (hnRNA). The encoded protein has affinity for both RNA and DNA, and binds scaffold-attached region (SAR) DNA. Mutations in this gene have been associated with epileptic encephalopathy, early infantile, 54. A pseudogene of this gene has been identified on chromosome 14.

Gene is located in Chromosome: 1

Location in Chromosome : 1q44

Description of this Gene: heterogeneous nuclear ribonucleoprotein U

Type of Gene: protein-coding

rs1553283037 in HNRNPU gene and Dysmorphic features PMID 20382278 2010 Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.

PMID 20795951 2010 Functional diversity of the hnRNPs: past, present and perspectives.

PMID 21800092 2012 High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 22678713 2012 Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.

PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.

PMID 28944577 2017 De novo mutations in HNRNPU result in a neurodevelopmental syndrome.

PMID 28815871 2017 Clinical and molecular characterization of de novo loss of function variants in HNRNPU.

PMID 25590979 2015 Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.

PMID 28393272 2017 Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability.

PMID 26845106 2016 Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability.

rs1135401732 in HNRNPU gene and Epileptic encephalopathy PMID 28815871 2017 Clinical and molecular characterization of de novo loss of function variants in HNRNPU.

rs1553283037 in HNRNPU gene and Overgrowth PMID 28393272 2017 Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability.

PMID 28944577 2017 De novo mutations in HNRNPU result in a neurodevelopmental syndrome.

PMID 26845106 2016 Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability.

PMID 28815871 2017 Clinical and molecular characterization of de novo loss of function variants in HNRNPU.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 20795951 2010 Functional diversity of the hnRNPs: past, present and perspectives.

PMID 20382278 2010 Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.

PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.

PMID 22678713 2012 Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.

PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 21800092 2012 High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.

PMID 25590979 2015 Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.