Table 1 Databases, tools, resources and software used in the present study

UCSC Genome Browser (Version: Feb. 2009 GRCh37/hg19)

http://genome.ucsc.edu/

Mapping of molecular cytogenetic data

Ensembl Genome Browser

http://www.ensembl.org/index.html

NCBI Build 37.1/NCBI Map Viewer

http://www.ncbi.nlm.nih.gov/projects/mapview/map_search.cgi?taxid=9606

Database of Genomic Variants

http://dgvbeta.tcag.ca/dgv/app/home?ref=GRCh37/hg19

Data on natural genome variations

OMIM (online Mendelian inheritance in Man)

http://www.omim.org/

Clinical data

DECIPHER (Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources)

http://decipher.sanger.ac.uk/

Phenotype-Genotype Integrator (PheGenI)

http://www.ncbi.nlm.nih.gov/gap/PheGenI

AutDB (web-based searchable database for autism research)

http://www.mindspec.org/autdb.html

BioGPS

http://biogps.org[17]

Gene expression data

Cytoscape software (Version: 3.1.1)

http://www.cytoscape.org/[60]

Interactome analysis

Reactome

http://www.reactome.org/[61]

Pathway analysis

Pathway commons

http://www.pathwaycommons.org

KEGG (Kyoto Encyclopedia of Genes and Genomes)

http://www.genome.jp/kegg/

NCBI BioSystems Database

http://www.ncbi.nlm.nih.gov/biosystems

NCBI gene

http://www.ncbi.nlm.nih.gov/gene/

Various gene information

PubMed

http://www.ncbi.nlm.nih.gov/pubmed/

Bibliographic searches and evaluations

Google scholar

http://www.scholar.google.com/