Table 4 Genes within CNV regions identified by PennCNV, cnvPartition, and ExomeDepth

From: De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes

Diagnosis of affected twin

Gene

Copy number (1 = deletion; 2 = duplication)

Description

Disease association (DisGeNET and DISEASES)

RVIS

pLI

%HI

ALS

LARGE1

2

LARGE xylosyl- and glucuronyltransferase 1

Congenital muscular dystrophy; mental retardation syndromes;

−1.11 (10.98%)

0.96

4.10

HSP

SLC8A1

1

Solute carrier family 8 member A1

Myocardial ischaemia; status epilepticus

−1.41 (6.88%)

0.99

6.09

Ischaemic stroke

ELOVL6

2

ELOVL fatty acid elongase 6

Heart failure; Psoriasis; obesity; atherosclerosis; atopic dermatitis

−0.27 (36.97%)

0.97

3.68

Lactose intolerance

MBD3L2

2

Methyl-CpG binding ___domain protein 3 like 2

Stomach neoplasms

n/a

n/a

95.74

ADGRE4P

2

Adhesion G protein-coupled receptor E4, pseudogene

Colorectal cancer

n/a

n/a

n/a

ADGRE1

2

Adhesion G protein-coupled receptor E1

Liver cirrhosis; secondary periodontitis

2.21 (97.76%)

0.00

90.69

ASD

CD38

2

CD38 molecule

Autism spectrum disorders

0.47 (70.44%)

0.00

77.57

Tourette’s syndrome

TOP3B

2

DNA topoisomerase III beta

Cognitive impairment; schizophrenia

−0.34 (33.91%)

0.11

15.86

Tourette’s syndrome/Parkinson’s disease

NLGN1

2

Neuroligin 1

Autistic disorder; schizophrenia; bipolar disorder; depression; memory impairment

−1.26 (8.92%)

0.76

1.37

Inclusion body myositis

AUTS2

2

AUTS2, activator of transcription and developmental regulator

Neurological disorders; acute lymphoblastic leukaemia; aging of the skin; early-onset androgenetic alopecia; cancer

−1.94 (3.32%)

1.00

0.51

LILRB3

2

Leukocyte immunoglobulin like receptor B3

Lung diseases; Takayasu’s arteritis

0.79 (81.49%)

0.00

97.17

Schizophrenia

ARHGAP11B

1

Rho GTPase-activating protein 11B

15q13.3 microdeletion syndrome; schizophrenia; bipolar disorder

0.07 (52.75%)

0.07

81.20

ARHGAP5

2

Rho GTPase-activating protein 5

Liver carcinoma; breast cancer

−1.31 (8.10%)

0.99

8.15

  1. Genes that are in the RefSeq database (http://www.ncib.nlm.nih.gov/gene) and Ensembl database (http://www.ensembl.org) are reported. RVIS v4 is constructed on the ExAC v2 data release. Web resources DisGeNET and DISEASES were used to gather disease-gene associations from various expert curated databases and text-mining derived associations
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