Table 3. Summary of common variants tested.
Common Variants | SCZ | ASD | BAD | ID | Cilia phenotype | Full name | Proposed function |
ANK3 | 2018514, 21926974 | 22521361 | 18711365, 20351715 21926972, 21926974 | ankyrin 3, node of Ranvier (ankyrin G) | cytoskeleton | ||
CACNA1C | 21926974 | 15454078 | 18711365, 21926972 21926974 | calcium channel, voltage-dependent, L type, alpha 1C subunit | Calcium channel | ||
CCDC68 | 21926974, 21791550 | coiled-coil domain containing 68 | unknown | ||||
CNNM2 | 21926974 | Ancient conserved domain-containing protein 2 | Divalent metal cation transporter | ||||
CSMD1 | 21926974 | CUB and Sushi multiple domains 1 | Unknown, type I membrane protein | ||||
HISTH2BJ | 19571808, 19571809 | histone cluster 1, H2bj | Chromatin structure | ||||
IFT88 | 20713499 | 11062270 | intraflagellar transport 88 homolog | Component of intraflagellar transport complex | |||
MIR137 | 21926974 | microRNA 137 | Gene regulation | ||||
MMP16 | 21926974 | matrix metallopeptidase 16 (membrane-inserted) | Endopeptidase for ECM substrates | ||||
NEK4 | 21926972 21926974 | 21926972, 21926974 19416921 | 21685204 | Serine/threonine-protein kinase Nek4 | kinase | ||
NRGN | 19571808 21791550 | neurogranin | Signaling mediator | ||||
NOTCH4 | 1,957,180,819,571,810 | notch 4 | Signaling receptor | ||||
NT5C2 | 21926974 | 5′-nucleotidase, cytosolic II | Hydrolysis of purine nucleotides | ||||
ODZ4 | 21926972 | odz, odd Oz/ten-m homolog 4 (Drosophila) | Signal transduction | ||||
PGBD1 | 1,957,180,819,571,810 | piggyBac transposable element derived 1 | unknown | ||||
PRSS16 | 1957180, 9571809 | protease, serine, 16 (thymus) | protease | ||||
SDCCAG8 | 21926974 | 20835237 | serologically defined colon cancer antigen 8 | Polarity, ciliogenesis | |||
STT3A | 21926974 | STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae) | N-glycosylation | ||||
TCF4 | 19571811, 19571808 21926974 | :22521361 | 17478476 | 20713499 | transcription factor 4 | Transcription factor, wnt signalling | |
TRANK1 | 22182935, 21926972 | tetratricopeptide repeat and ankyrin repeat containing 1 | unknown | ||||
TRIM26 | 21926974 | tripartite motif containing 26 | unknown |
Numbers indicate Pubmed ID for primary references to disease associations or cilia phenotype, as indicated. Gene name and proposed function are excerpted from the Uniprot database.