Variant: rs1553704696 

    present in Gene: TRIP12
    present in Chromosome: 2
    Position on Chromosome: 229859313
    Alleles of this Variant: T/-

rs1553704696 in TRIP12 gene and Dysmorphic features PMID 22028794 2011 The E3 ubiquitin ligase activity of Trip12 is essential for mouse embryogenesis.

PMID 18252223 2008 Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.

PMID 17940072 2008 The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology.

PMID 20676075 2010 MutationTaster evaluates disease-causing potential of sequence alterations.

PMID 21784246 2011 FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism.

PMID 24265227 2014 The chromatin remodeller CHD8 is required for E2F-dependent transcription activation of S-phase genes.

PMID 22542183 2012 De novo gene disruptions in children on the autistic spectrum.

PMID 19028681 2009 The HECT domain of TRIP12 ubiquitinates substrates of the ubiquitin fusion degradation pathway.

PMID 22511880 2012 Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.

PMID 27848077 2017 Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism.

PMID 20208519 2010 Transcription-independent ARF regulation in oncogenic stress-mediated p53 responses.

PMID 18822396 2009 Deletion 2q36.2q36.3 with multiple renal cysts and severe mental retardation.

PMID 28251352 2017 Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.

PMID 27479843 2016 Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.

PMID 9759494 1998 The ubiquitin system.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 26777411 2016 Recurrent copy number variations as risk factors for autism spectrum disorders: analysis of the clinical implications.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 25418537 2014 Recurrent de novo mutations implicate novel genes underlying simplex autism risk.

PMID 24265389 2013 Response to comment on: Draznin et al. Pathways to quality inpatient management of hyperglycemia and diabetes: a call to action. Diabetes Care 2013;36:1807-1814.

PMID 22884692 2012 TRIP12 and UBR5 suppress spreading of chromatin ubiquitylation at damaged chromosomes.

rs1553704696 in TRIP12 gene and Muscle hypotonia PMID 22884692 2012 TRIP12 and UBR5 suppress spreading of chromatin ubiquitylation at damaged chromosomes.

PMID 17940072 2008 The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology.

PMID 18252223 2008 Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.

PMID 24265227 2014 The chromatin remodeller CHD8 is required for E2F-dependent transcription activation of S-phase genes.

PMID 20676075 2010 MutationTaster evaluates disease-causing potential of sequence alterations.

PMID 20208519 2010 Transcription-independent ARF regulation in oncogenic stress-mediated p53 responses.

PMID 22511880 2012 Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.

PMID 18822396 2009 Deletion 2q36.2q36.3 with multiple renal cysts and severe mental retardation.

PMID 22542183 2012 De novo gene disruptions in children on the autistic spectrum.

PMID 19028681 2009 The HECT domain of TRIP12 ubiquitinates substrates of the ubiquitin fusion degradation pathway.

PMID 26777411 2016 Recurrent copy number variations as risk factors for autism spectrum disorders: analysis of the clinical implications.

PMID 22028794 2011 The E3 ubiquitin ligase activity of Trip12 is essential for mouse embryogenesis.

PMID 25418537 2014 Recurrent de novo mutations implicate novel genes underlying simplex autism risk.

PMID 27848077 2017 Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism.

PMID 21784246 2011 FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism.

PMID 27479843 2016 Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 24265389 2013 Response to comment on: Draznin et al. Pathways to quality inpatient management of hyperglycemia and diabetes: a call to action. Diabetes Care 2013;36:1807-1814.

PMID 28251352 2017 Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.

PMID 9759494 1998 The ubiquitin system.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.