Table 2.

Predicted functional effects of selected novel splice forms

Gene symbol	Gene title	Effect of novel splice	Domain affected
CAPNS1	Calpain small subunit 1/CAPN4	Deletion of 112 amino acids from N-terminus	Removal of the N-terminal glycine-rich domain (domain V) implicated in interaction with lipids
GOSR2	Golgi SNAP receptor complex member 2	Deletion of 47 amino acids	Removes part of the potential cytoplasmic domain
HLA-DMB	MHC II DM beta	Removes 39 amino acids	Removes the transmembrane domain
ITGAE	Integrin, alpha E (antigen CD103)	Deletion of 32 amino acids	Removes part of the integrin alpha E heavy chain domain
GOLGA2	Golgi matrix protein GM130	Insertion of 27 amino acids	Disrupts the p115 binding site
LEF1	Lymphoid enhancer-binding factor 1, TCF1-alpha	Deletion of 28 amino acids	Removes part of the proline rich domain
NFKBIB/IKBβ	I-kappa-B-beta	N-terminus truncated	Removal of two phosphorylation sites and an ankyrin domain
NOS2A	Nitric oxide synthase 2A	Deletion of 65 amino acids	Truncation of C-terminus, removing 2 NAD-binding domains
PCBP2	Heterogeneous nuclear ribonucleoprotein E2/poly(rC) binding protein 2	Deletion of 45 amino acids	Removes the region between KH2 and KH3 domains
PDHA	Pyruvate dehydrogenase complex, E1-alpha polypeptide 1 precursor	Insertion of 38 amino acids	Disrupts the region responsible for mitochondrial import of precursor protein
TIE1	Tyrosine kinase with immunoglobulin and EGF factor homology domains	Deletion of 43 amino acids	Removes EGF-like domain 3
WBP2	WW domain-binding protein 2	Deletion of 45 amino acids	Removes part of a proline rich domain