Table 3 Overview of the analysis to determine whether any of the 368 genes with rare and potentially functional variants have been implicated in previous next-generation sequencing studies (NGS) or genome-wide association studies (GWAS) of bipolar disorder (BD).
From: Whole-exome sequencing of 81 individuals from 27 multiply affected bipolar disorder families
Gene | Family | Chr | Position | Ref | Alt | Mut Prot | MAF | Category | Publications |
|---|---|---|---|---|---|---|---|---|---|
ANK3 | 0215 | 10 | 61815451 | G | A | p.H1828Y | 2.22E-05 | BD NGS, BD GWAS | Chen et al., 2013; Fiorentino et al., 2014; Georgi et al., 2014; Mühleisen et al., 2014; Stahl et al., 2019 |
ANKRD39 | 0085 | 2 | 97520089 | C | G | p.G64R | 1.11E-05 | BD GWAS | Stahl et al., 2019 |
BZRAP1 | 0062 | 17 | 56389544 | G | A | p.R880W | 3.51E-05 | BD NGS | Kataoka et al., 2016 |
CABIN1 | 0109 | 22 | 24468401 | A | G | p.E858G | 1.10E-04 | BD NGS | Goes et al., 2016 |
CUX1 | 0023 | 7 | 101877499 | A | G | p.M1201V | NA | BD NGS | Goes et al., 2016 |
DPP3 | 0041 | 11 | 66249825 | A | G | p.T52A | NA | BD GWAS | Stahl et al., 2019 |
MACF1 | 0014 | 1 | 39893177 | C | T | p.T3394I | 4.30E-04 | BD NGS | Kataoka et al., 2016 |
MAU2 | 0085 | 19 | 19454736 | C | T | p.T355M | 2.24E-05 | BD GWAS | Stahl et al., 2019 |
MYH7B | 0215 | 20 | 33583320 | T | C | p.I1003T | 4.47E-05 | BD GWAS | Green et al., 2013b |
MYO10 | 0074 | 5 | 16670681 | A | G | p.L1946S | 5.62E-05 | BD NGS | Kataoka et al., 2016 |
NISCH | 0023 | 3 | 52526224 | G | A | p.R1414Q | 4.50E-05 | BD GWAS | Stahl et al., 2019 |
OBSCN | 0012 | 1 | 228481095 | G | A | p.A3637T | 1.11E-05 | BD NGS | Goes et al., 2016 |
POC1A | 1044 | 3 | 52183400 | C | A | p.G94V | NA | BD GWAS | Stahl et al., 2019 |
PRKCZ | 1044 | 1 | 2075740 | G | A | p.R171H | 4.41E-04 | BD NGS | Goes et al., 2016 |
PROC | 0074 | 2 | 128186037 | G | T | p.A301S | NA | BD NGS | Kataoka et al., 2016 |
RIMS1 | 0215 | 6 | 73108704 | AAGAAGAAG | AAGAAG | p.K717del | NA | BD GWAS | Stahl et al., 2019 |
SYNE1 | 0014 | 6 | 152683306 | T | G | p.K3433T | NA | BD GWAS | Green et al., 2013a |
TTBK2 | 0085 | 15 | 43044464 | C | A | p.D994Y | 5.55E-05 | BD GWAS | Stahl et al., 2019 |
ZBTB24 | 0215 | 6 | 109802434 | C | T | p.D266N | 3.31E-05 | BD NGS | Goes et al., 2016 |