Zogopoulos et al.
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Supplementary Material
Supplementary Table 2. Enriched gene ontology categories in CNVRs. Known genes that
overlapped with CNVRs were tested for over or under-representation of specific Gene Ontology
(GO) gene function annotation terms (The Gene Ontology Consortium 2000) using the BiNGO
software (Maere et al. 2005) and updated human GO annotation downloaded on Dec.3.2006. 1351
unique genes were tested against the entire GO reference set, consisting of 16,123 annotated genes.
Assessment of significance was conducted using the hypergeometric test and Benjamini &
Hochberg False Discovery Rate multiple testing correction. UniProt (Wu et al. 2006) identifiers
(IDs) for each known gene were converted to Entrez Gene IDs (Wheeler et al. 2006), using Expasy
(Gasteiger et al. 2003) and Ensembl (Clamp et al. 2003). The following GO terms were enriched in
CNVRs, while a significant impoverishment of GO categories was not observed.
GO-ID
Description
# of Test
Genes in GO
Term
# of Reference
Genes in GO
Term
Corrected p-value
4984
olfactory receptor activity
64
378
1.08E-04
7608
sensory perception of smell
63
376
1.08E-04
7606
sensory perception of chemical stimulus
64
405
4.99E-04
7600
sensory perception
92
689
2.69E-03
30106
MHC class I receptor activity
9
18
2.69E-03
1584
rhodopsin-like receptor activity
93
726
1.02E-02
7186
G-protein coupled receptor protein signaling pathway
118
1003
3.39E-02
50877
neurophysiological process
109
922
4.58E-02
Zogopoulos et al.
Supplementary Material
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