Variant: rs1382415023 

    present in Gene: SON
    present in Chromosome: 21
    Position on Chromosome: 33554945
    Alleles of this Variant: GAAA/-

rs1382415023 in SON gene and Dysmorphic features PMID 9185665 1997 Molecular cloning of Fyn-associated molecules in the mouse central nervous system.

PMID 3054499 1988 [Decoding of the primary structure of the son3 region in human genome: identification of a new protein with unusual structure and homology with DNA-binding proteins].

PMID 27545676 2016 De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.

PMID 27545680 2016 De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

PMID 25782155 2015 Accurate splicing of HDAC6 pre-mRNA requires SON.

PMID 23595291 2013 Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

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

PMID 23424103 2013 Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.

PMID 24013217 2013 SON connects the splicing-regulatory network with pluripotency in human embryonic stem cells.

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

PMID 23603762 2013 Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.

PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.

PMID 21504830 2011 SON controls cell-cycle progression by coordinated regulation of RNA splicing.

PMID 22948023 2013 Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria.

PMID 12606581 2003 HDAC-6 interacts with and deacetylates tubulin and microtubules in vivo.

PMID 23001566 2012 An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.

PMID 20976243 2010 Characterising and predicting haploinsufficiency in the human genome.

PMID 16033648 2005 A genome-wide in situ hybridization map of RNA-binding proteins reveals anatomically restricted expression in the developing mouse brain.

PMID 23416452 2013 mRNA expression, splicing and editing in the embryonic and adult mouse cerebral cortex.

PMID 10950926 2000 Organization and conservation of the GART/SON/DONSON locus in mouse and human genomes.

PMID 22193954 2011 Son maintains accurate splicing for a subset of human pre-mRNAs.

PMID 10509013 1999 A selection system for human apoptosis inhibitors using yeast.

PMID 20053686 2010 Son is essential for nuclear speckle organization and cell cycle progression.

PMID 19961433 2010 Histone deacetylase 6 (HDAC6) is an independent deacetylase for alpha-tubulin.

PMID 1944255 1991 [Identification of a protein product of a novel human gene SON and the biological effect upon administering a changed form of this gene into mammalian cells].

PMID 11306577 2001 Transcription repression of human hepatitis B virus genes by negative regulatory element-binding protein/SON.

PMID 20581448 2010 SON is a spliceosome-associated factor required for mitotic progression.

rs1382415023 in SON gene and Movement Disorders PMID 9185665 1997 Molecular cloning of Fyn-associated molecules in the mouse central nervous system.

PMID 3054499 1988 [Decoding of the primary structure of the son3 region in human genome: identification of a new protein with unusual structure and homology with DNA-binding proteins].

PMID 22193954 2011 Son maintains accurate splicing for a subset of human pre-mRNAs.

PMID 19961433 2010 Histone deacetylase 6 (HDAC6) is an independent deacetylase for alpha-tubulin.

PMID 23001566 2012 An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.

PMID 16033648 2005 A genome-wide in situ hybridization map of RNA-binding proteins reveals anatomically restricted expression in the developing mouse brain.

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

PMID 22948023 2013 Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria.

PMID 25782155 2015 Accurate splicing of HDAC6 pre-mRNA requires SON.

PMID 23603762 2013 Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.

PMID 20976243 2010 Characterising and predicting haploinsufficiency in the human genome.

PMID 11306577 2001 Transcription repression of human hepatitis B virus genes by negative regulatory element-binding protein/SON.

PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.

PMID 12606581 2003 HDAC-6 interacts with and deacetylates tubulin and microtubules in vivo.

PMID 23424103 2013 Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.

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

PMID 24013217 2013 SON connects the splicing-regulatory network with pluripotency in human embryonic stem cells.

PMID 23595291 2013 Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene.

PMID 21504830 2011 SON controls cell-cycle progression by coordinated regulation of RNA splicing.

PMID 20053686 2010 Son is essential for nuclear speckle organization and cell cycle progression.

PMID 1944255 1991 [Identification of a protein product of a novel human gene SON and the biological effect upon administering a changed form of this gene into mammalian cells].

PMID 23416452 2013 mRNA expression, splicing and editing in the embryonic and adult mouse cerebral cortex.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 10509013 1999 A selection system for human apoptosis inhibitors using yeast.

PMID 10950926 2000 Organization and conservation of the GART/SON/DONSON locus in mouse and human genomes.

PMID 27545680 2016 De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

PMID 27545676 2016 De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.

PMID 20581448 2010 SON is a spliceosome-associated factor required for mitotic progression.

rs1382415023 in SON gene and Muscle hypotonia PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 27545676 2016 De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.

PMID 23001566 2012 An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.

PMID 25782155 2015 Accurate splicing of HDAC6 pre-mRNA requires SON.

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

PMID 20581448 2010 SON is a spliceosome-associated factor required for mitotic progression.

PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.

PMID 20053686 2010 Son is essential for nuclear speckle organization and cell cycle progression.

PMID 24013217 2013 SON connects the splicing-regulatory network with pluripotency in human embryonic stem cells.

PMID 23424103 2013 Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.

PMID 20976243 2010 Characterising and predicting haploinsufficiency in the human genome.

PMID 23603762 2013 Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.

PMID 22193954 2011 Son maintains accurate splicing for a subset of human pre-mRNAs.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 21504830 2011 SON controls cell-cycle progression by coordinated regulation of RNA splicing.

PMID 19961433 2010 Histone deacetylase 6 (HDAC6) is an independent deacetylase for alpha-tubulin.

PMID 23595291 2013 Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene.

PMID 11306577 2001 Transcription repression of human hepatitis B virus genes by negative regulatory element-binding protein/SON.

PMID 1944255 1991 [Identification of a protein product of a novel human gene SON and the biological effect upon administering a changed form of this gene into mammalian cells].

PMID 22948023 2013 Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria.

PMID 9185665 1997 Molecular cloning of Fyn-associated molecules in the mouse central nervous system.

PMID 3054499 1988 [Decoding of the primary structure of the son3 region in human genome: identification of a new protein with unusual structure and homology with DNA-binding proteins].

PMID 10509013 1999 A selection system for human apoptosis inhibitors using yeast.

PMID 23416452 2013 mRNA expression, splicing and editing in the embryonic and adult mouse cerebral cortex.

PMID 10950926 2000 Organization and conservation of the GART/SON/DONSON locus in mouse and human genomes.

PMID 12606581 2003 HDAC-6 interacts with and deacetylates tubulin and microtubules in vivo.

PMID 27545680 2016 De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

PMID 16033648 2005 A genome-wide in situ hybridization map of RNA-binding proteins reveals anatomically restricted expression in the developing mouse brain.