TABLE 2.
Super‐variant | Gene | Papers | Results |
---|---|---|---|
Chr3‐151 | SELENOT | Boukhzar et al., 2016 | Gene SELENOT encodes a selenoprotein. This gene has been reported to play a crucial role in the protection of dopaminergic neurons against oxidative stress in mouse model of Parkinson's disease. |
MED12L |
Risheg et al., 2007 Isidor et al., 2014 Nizon et al., 2019 |
Gene MED12L encodes a subunit of Mediator complex. Mutations in this gene have been identified in several genetic disorders associated with intellectual disabilities. | |
Chr7‐139 | KIAA1549 |
Jones et al., 2008 Lin et al., 2012 |
KIAA1549:BRAF fusion has been identified in many cases of pilocytic astrocytoma in central neural system. |
Chr9‐120 | ASTN2 | Fagerberg et al., 2014 |
Gene ASTN2 shows biased expression in brain. |
Wilson, Fryer, Fang, & Hatten, 2010 | Gene ASTN2 has been reported to regulate glial‐guided neuronal migration. | ||
Glessner et al., 2009 Vrijenhoek et al., 2008 Lesch et al., 2008 |
Variations in gene ASTN2 has been identified as a risk factor in neurodevelopmental disorders, including autism spectrum disorder, schizophrenia, attention‐deficit/hyperactivity disorder. | ||
Chr12‐34 | SYT10 | Moghadam & Jackson, 2013 | Gene SYT10 is a member of synaptotagmin, a family of transmembrane proteins involved in the regulated exocytosis of vesicles. |
Mittelsteadt et al., 2009 |
Gene SYT10 is mainly expressed in olfactory bulb neurons. | ||
Woitecki et al., 2016 | Gene SYT10 has been reported to contribute to activity‐induced neuroprotection against excitotoxic neurodegeneration. | ||
Chr15‐65 | CSNK1G1 | Martin et al., 2014 | Gene CSNK1G1 encodes a member of the casein kinase I gene family. A mutation in this gene may be associated with non‐syndromic early‐onset epilepsy. |
Chr18‐71 | CBLN2 | Fagerberg et al., 2014 | Gene CBLN2 shows biased expression in brain. |
Rong et al., 2012 | Genetic elimination of CBLN2 results in synaptic alterations in cerebellum. | ||
NETO1 |
Fagerberg et al., 2014 |
Gene NETO1 encodes a transmembrane protein, which shows biased expression in brain. | |
Ng et al., 2009 | Gene NETO1 has been reported to regulate spatial learning and memory. | ||
Chr19‐55 | PRKCG | Fagerberg et al., 2014 | Gene PRKCG encodes a member of a family of serine‐ and threonine‐specific protein kinases. This gene shows biased expression in brain. |
Chen et al., 2003 Shirafuji et al., 2019 |
Mutations in this gene results in neurodegenerative disorder spinocerebellar ataxia‐14 (SCA14). | ||
CACNG6 CACNG7 CACNG8 |
Fagerberg et al., 2014 | These genes encode a type II transmembrane AMPA receptor regulatory protein. Genes CACNG7 and CACNG8 are restrictedly expressed in brain. | |
Guan et al., 2016 | Genes CACNG6 and CACNG8 have been identified as potential susceptible genes to schizophrenia. | ||
CNOT3 |
Martin et al., 2019 | Variations in gene CNOT3 cause a variable neurodevelopmental disorder. | |
TTYH1 | Fagerberg et al., 2014 | Gene TTYH encodes a member of the tweety family of proteins. This gene shows biased expression in brain. | |
Halleran et al., 2015 | Gene TTYH is expressed during neuronal development. |