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Table 1 Genes with de novo harmful mutations in this study and reported database

From: De novo mutations within metabolism networks of amino acid/protein/energy in Chinese autistic children with intellectual disability

Gene

This study

ASD virulence gene

ASD-related gene

Mental disease-related gene

Developmental disease-related gene

Combined*

References

Lof

Mis

Lof

Mis

CNV

N/Y

Lof

Mis

CNV

N/Y

Lof

Mis

CNV

N/Y

Lof

Mis

CNV

N/Y

Lof/Mis/CNV

(ALL diseases)

Recurrent in this study

NOTCH1

0

2

0

0

0

Y

0

0

0

Y

0

0

0

N

0

0

0

N

2

[17]

Recurrent in reported database

CACNA1A

1

0

1

0

0

Y

0

1

0

Y

0

0

0

Y

0

2

0

Y

4

[26]; [27]

CHRM3

0

1

0

0

0

Y

0

0

0

Y

0

0

1

Y

0

0

0

Y

1

[20]; [28]

CNOT3

0

1

0

0

0

Y

0

0

0

Y

0

0

0

N

0

0

0

Y

1

[21]; [29]; [30]

EPHA6

0

1

0

0

0

Y

0

0

0

Y

0

0

0

N

0

0

0

Y

1

[22]

CDH2

0

1

0

0

0

Y

0

0

0

Y

0

0

0

N

0

0

0

N

1

[23]; [31]

KIF5C

0

1

0

0

0

N

0

1

0

Y

0

0

0

N

0

1

0

Y

3

[32]

KIF1A

0

1

0

0

0

N

0

1

0

Y

0

0

0

N

0

0

0

N

2

[33]

IKZF4

0

1

0

0

0

N

0

0

1

Y

0

0

0

N

0

0

0

Y

2

[34]

SEC31B

0

1

0

0

0

N

0

0

0

Y

0

0

0

N

0

0

0

N

1

[35]

LMO7

1

0

0

0

0

N

0

0

0

Y

0

0

0

N

0

0

0

N

1

[36]

MYCBP2

0

1

0

0

0

N

0

0

0

Y

0

0

0

N

0

0

0

N

1

[37]

PALM2

1

0

0

0

0

N

0

0

0

Y

0

0

0

N

0

0

0

N

1

[38]

ALG9

0

1

0

0

0

N

0

0

0

Y

0

0

0

N

0

0

0

N

1

[39]

WDTC1

0

1

0

0

0

N

0

0

0

Y

0

0

0

N

0

0

0

N

1

[40]

UBR4

0

1

0

0

0

N

0

0

0

Y

0

0

0

Y

0

0

0

N

1

[41]; [42]

MKL1

0

1

0

0

0

N

0

0

0

Y

0

0

0

N

0

0

0

N

1

[43]

CREB5

0

1

0

0

0

N

0

0

0

Y

0

0

0

N

0

0

0

N

1

[44]

AOX1

0

1

0

0

0

N

0

0

0

Y

0

0

0

N

0

0

0

N

1

[45]

TLE3

1

0

0

0

0

N

0

0

0

Y

0

0

0

N

0

0

0

N

1

[46]

ARID5B

1

0

0

0

0

N

0

0

0

Y

0

0

0

N

0

0

0

N

1

[47]

PHACTR3

0

1

0

0

0

N

0

0

0

Y

0

0

0

N

0

0

0

N

1

dbGaP$: phs000267.v5.p2 (NIMH Autism Genome Project)

HOMER2

0

1

0

0

0

N

0

0

0

N

0

0

0

Y

0

0

0

Y

1

[48]; OMIM616707

XPNPEP1

1

0

0

0

0

N

0

0

0

N

0

0

0

Y

0

0

0

N

1

[49]

PTPRM

0

1

0

0

0

N

0

0

0

N

0

0

1

Y

0

0

0

N

2

[50]

MFAP1

0

1

0

0

0

N

0

0

0

N

0

0

1

Y

0

0

0

N

2

[51]

SEC31A

0

1

0

0

0

N

0

0

0

N

0

1

0

Y

0

0

0

N

2

[52]

MASP1

0

1

0

0

0

N

0

0

0

N

0

0

0

Y

0

0

0

Y

1

[53]

CFH

0

1

0

0

0

N

0

0

0

N

0

0

0

Y

0

0

0

N

1

[54]

YWHAQ

0

1

0

0

0

N

0

0

0

N

0

0

0

Y

0

0

0

N

1

[55]

MGAT4A

1

0

0

0

0

N

0

0

0

N

0

0

0

Y

0

0

0

N

1

[56]

TMEM8B

0

1

0

0

0

N

0

0

0

N

0

0

0

Y

0

0

0

N

1

[57]

ABCA5

0

1

0

0

0

N

0

0

0

N

0

0

0

Y

0

0

0

N

1

[58]

LYST

0

1

0

0

0

N

0

0

0

N

0

0

0

Y

0

0

0

Y

1

[59]; OMIM214500

POU2F2

0

1

0

0

0

N

0

0

0

N

0

0

0

Y

0

0

0

N

1

[60]

NOL6

0

1

0

0

0

N

0

0

0

N

0

0

0

Y

0

0

0

N

1

MCID#: ATS383 MIFTS: 37

  1. All mutations in this table mean de novo mutations found in cases
  2. *Combined number of mutations including this study and the references cited
  3. #MalaCards database: https://www.malacards.org/
  4. $The database of Genotypes and Phenotypes (dbGaP): https://www.ncbi.nlm.nih.gov/gap/
  5. OMIM: Online Mendelian Inheritance in Man https://www.ncbi.nlm.nih.gov/omim