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Table 1 The 19 genes with ASD-associated rare synonymous variations

From: Impairment of translation in neurons as a putative causative factor for autism

Gene

Source database

GenBank protein GI/brief description

# rare synonymous variants (AVs)

# reconstructed synonymous mutations

# common synonymous SNPs

AUTS2

AutDB

17225457/autism-related protein 1

1

2

2

CADPS2

AutDB

148839294/calcium-dependent secretion activator 2

2

5

3

FOXP2

AutDB

298566291/forkhead box protein P2

1

4

2

FMR1

AutDB

fragile X mental retardation 1

1

4

3

GRM1

AGRE

166999098/metabotropic glutamate receptor 1

4

8

5

GRM5

AGRE

4504143/metabotropic glutamate receptor 5

7

3

5

HRAS

AGRE

34222246/GTPase HRas

1

0

1

MAP2K1

AGRE

5579478/dual specificity mitogen-activated protein kinase 1

1

0

1

MAP2K2

AGRE

13489054/dual specificity mitogen-activated protein kinase 2

3

4

4

MECP2

AutDB

1708973/Methyl-CpG-binding protein 2

9

2

1

NLGN3

AutDB

262359971/neuroligin-3

1

0

1

NRXN1

AutDB

154813843/neuronal cell surface protein NRXN1-α

5

10

2

PIK3CA

AGRE

54792082/phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit

4

2

3

RBFOX1

AutDB

22538409/RNA binding protein fox-1 homolog 1

3

6

1

SHANK2

AutDB

254763402/SH3 and multiple ankyrin repeat domains protein 2

8

6

3

SHANK3

AutDB, AGRE

380748963/SH3 and multiple ankyrin repeat domains protein 3

27

4

9

TSC1

AGRE

4507693/tuberous sclerosis gene TSC1

3

2

2

TSC2

AGRE

116256352/tuberous sclerosis 2 protein

5

11

8

UBE3A

AGRE

19718764/ubiquitin-protein ligase E3A

1

3

5