Table S1. Genes within 16p11.2 microdeletion/microduplication common interval

Gene / bp start (hg18 coordinates) / OMIM number / Function / Associated human disease / Brain expression
SPN / 29581801 / 182160 / Sialoglycoprotein on the surface of human immune cells / Deficient in Wiskott-Aldrich immunodeficiency syndrome (OMIM 301000) but not caused by mutations in the gene / +
QPRT / 29597938 / 606248 / Key enzyme in catabolism of quinolinate; elevation of quinolinate levels in the brain has been linked to the pathogenesis of neurodegenerative disorders / +
C16orf54 / 29661293 / Single-pass transmembrane expressed in leukemia / -
AC009133.7 / 29697112 / Uncharacterized / -
KIF22 / 29709559 / 603213 / Kinesin-like DNA-binding protein / +
MAZ / 29725356 / 600999 / Zinc finger protein (transcription factor); Regulates genes involved in GABA signaling, neuronal differentiation, and the serotonin pathway. / +
PRRT2 / 29730910 / Proline-rich transmembrane protein / +
C16orf53/PA1 / 29735029 / 612033 / Interacts with PAXIP1/PTIP, which is part of a histone methyltransferase / +
MVP / 29739289 / 605088 / Major vault protein - part of scaffold required for proper signal transduction; has a role in bacterial uptake for fighting infection in lung / Increased expression in the brains of epileptics / +
CDIPT / 29777179 / 605893 / Catalyzes the biosynthesis of phosphatidylinositol (PtdIns) as well as PtdIns:inositol exchange reaction; involved in G-protein signalling and calcium metabolism / +
AC120114.2 / 29782656 / Uncharacterized: expression restricted to eye / -
SEZ6L2 / 29790332 / Unknown function; homologous to the mouse sez6 gene, a brain-specific and seizure-related cDNA. / +
ASPHD1 / 29819648 / Single pass transmembrane involved in redox reactions. / +
KCTD13 / 29825166 / 608947 / Nuclear protein with role in DNA replication / +
TMEM219 / 29880852 / Transmembrane protein / +
TAOK2 / 29892723 / Activates the JNK MAP kinase pathway through the specific activation of the upstream MKK3 and MKK6 kinases. / +
HIRIP3 / 29911818 / 603365 / Binds to HIRA and histones; could function in some aspects of chromatin and histone metabolism. / +
CCDC95 / 29915060 / Part of chromatin remodeling complex / +
DOC2A / 29924338 / 604567 / Hypothesized to regulate synaptic activity through Ca-dependent mechanisms. / +
AC093512.2 / 29942156 / Uncharacterized / +
FAM57B / 29943250 / Protein found on membrane and endoplasmic reticulum / +
ALDOA / 29971945 / 103850 / Glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate / Autosomal recessive aldolase A deficiency (OMIM 611881) - anemia in all cases, MR in some / +
PPP4C / 29994839 / 602035 / Protein phosphatase that is involved in many processes such as microtubule organization at centrosomes, maturation of spliceosomal snRNPs, apoptosis, tumor necrosis factor (TNF)-alpha signaling, activation of c-Jun N-terminal kinase MAPK8, regulation of histone acetylation, DNA damage checkpoint signaling, NF-kappa-B activation and cell migration. / +
TBX6 / 30004583 / 602427 / Transcription factor that specifies paraxial mesoderm formation / +
ZNF688 / 30008266 / Transcription factor / +
YPEL3 / 30011136 / 609724 / Unknown; may be involved in cell division / +
GDPD3 / 30023632 / Single pass transmembrane / +
MAPK3 / 30032928 / 601795 / Involved in both the initiation and regulation of meiosis, mitosis, and postmitotic functions in differentiated cells by phosphorylating a number of transcription factors; ERK activation may affect axonal growth by phosphorylation of microtubule-associated proteins and neurofilaments. / +
CORO1A / 30102427 / 605000 / Actin-binding protein; mycobacteria retain CORO1A on the phagosomal membrane to prevent the recruitment of lysosomes. / Patient with 16p11.2 deletion and mutation in this gene had SCID *. / +

*Shiow, L.R. et al. Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a coronin-1A mutation and a chromosome 16p11.2 deletion. Clin Immunol (2008).