Table 1 Genes within each confirmed de novo CNV region. Genes that are in the RefSeq database (http://www.ncbi.nlm.nih.gov/gene) as well as in the Ensembl database (http://www.ensembl.org/) are reported

From: De novo and inherited CNVs in MZ twin pairs selected for discordance and concordance on Attention Problems

Gene ID

Description

Tissue expressed (transcripts per million) a

Gene ontology (functioning of gene products) b

chr15: 18 728 578–19 399 146

 HERC2P3

Hect domain and RLD 2 pseudogene 3, non-coding RNA

Brain (69); Thyroid (42); Uterus (38); Thymus (36); Testis (24); Pharynx (24); Mammary Gland (13); Stomach (10); Placenta (10); Eye (9); Blood (8); Connective Tissue (6); Prostate (5); Embryonic Tissue (4); Intestine (4); Kidney (4); Liver (4); Skin (4)

Molecular functions: metal ion binding; ubiquitin-protein ligase activity.

chr4: 189 928 060–191 261 904

 HSP90AA4P

Heat shock protein 90kDa alpha (cytosolic), class A member 4, pseudogene, non-coding RNA

Ascites (24); Skin (4)

Cellular components: cytoplasm.Molecular functions: ATP binding; nucleotide binding; unfolded protein binding.Biological processes: protein folding; response to stress.

 FRG1

FSHD region gene 1, mRNA

Bone Marrow (143); Pharynx (72); Pituitary Gland (60); Blood (56); Lymph Node (54); Salivary Gland (49); Ovary (48); Parathyroid (48); Eye (47); Muscle (46); Liver (33); Mammary Gland (32); Stomach (31); Uterus (30); Adrenal Gland (30); Embryonic Tissue (27); Lung (26); Prostate (21); Testis (21); Cervix (20); Connective Tissue (20); Pancreas (18); Kidney (14); Skin (14); Bone (13); Heart (11); Intestine (8); Brain (4); Placenta (3)

Cellular components: cajal body; catalytic step 2 spliceosome; nuclear speck; nucleolus; nucleus.Biological processes: nuclear mRNA splicing, via spliceosome; RNA splicing; rRNA processing.

 TUBB4Q

Tubulin, beta polypeptide 4, member Q, pseudogene, mRNA

Skin (4)

Cellular components: cytoplasm; cytoskeleton; microtubule. Molecular functions: GTP binding; GTPase activity; nucleotide-binding; structural molecule activity Biological processes: ‘de novo’ posttranslational protein folding; cellular protein metabolic process; microtubule-based movement; protein folding; protein polymerization.

 FRG2

FSHD region gene 2, mRNA

NA

Cellular components: nucleus.

 DUX4 family

double homeobox 4, mRNA

NA

Cellular components: nucleus.

   

Molecular functions: sequence-specific DNA binding; sequence-specific DNA binding transcription factor activity.

chr17: 5 864 185–5 980 521

 WSCD1

WSC domain containing 1, mRNA

Muscle (120); Umbilical Cord (73); Pituitary Gland (60); Eye (56); Testis (48); Brain (45); Kidney (37); Ovary (29); Thyroid (21); Bone Marrow (20); Vascular (19); Embryonic Tissue (18); Spleen (18); Placenta (17); Lung (14); Mouth (14); Bone (13); Connective Tissue (13); Heart (11); Pancreas (9); Blood (8)

Cellular components: integral to membrane (ie, penetrating at least one phospholipid bilayer of a membrane); membrane (ie, double layer of lipid molecules that encloses all cells, and many organelles; may be a single or double lipid bilayer; also includes associated proteins)Molecular functions: sulphotransferase activity.

  1. Abbreviations: FSHD, facioscapulohumeral muscular dystrophy; NA, tissue-specific gene expression data not available.
  2. aData from NCBI UniGene (http://www.ncbi.nlm.nih.gov/unigene).
  3. bData from the Gene Ontology Project (http://www.geneontology.org).
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