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

  1. Chr chromosome, Position chromosomal position according to hg19/GRCh37, Ref reference allele, Alt alternative allele, Mut Prot alteration on the protein level, MAF minor allele frequency, NA not available.