Developmental Brain Disorder Gene Database
LoF Variant Gene
- Unique Cases:
- ID, ASD, ADHD, CP
- Last Updated:
- September 1, 2022
- DBD Genes Classification
- TRIP12 is a High Confidence candidate gene classified as Tier 1. Tier 1 genes have three or more de novo pathogenic loss-of-function variants.
- Gene Function
- E3 ubiquitin-protein ligase involved in ubiquitin fusion degradation (UFD) pathway and regulation of DNA repair (PubMed:19028681, PubMed:22884692). Part of the ubiquitin fusion degradation (UFD) pathway, a process that mediates ubiquitination of protein at their N-terminus, regardless of the presence of lysine residues in target proteins (PubMed:19028681). Acts as a key regulator of DNA damage response by acting as a suppressor of RNF168, an E3 ubiquitin-protein ligase that promotes accumulation... (Source: Uniprot)
- Previous symbols
- No previous symbols
- Alias symbols
- KIAA0045, ULF, TRIPC
- Chromosomal Location
- Genomic Coordinates
- Associated Disorders
- Intellectual Disability, Autism, Attention Deficit Hyperactivity Disorder, Cerebral Palsy
|Zhang J et. al., Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features., Hum Genet, 2017|
|Iossifov I et. al., De novo gene disruptions in children on the autistic spectrum., Neuron, 2012|
|Coe BP et. al., Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity., Nat Genet, 2019|
|Guo H et. al., Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model., Mol Autism, 2018|
|Wang T et. al., De novo genic mutations among a Chinese autism spectrum disorder cohort., Nat Commun, 2016|
|Ruzzo EK et. al., Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks., Cell, 2019|
|et. al., , ,|
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