Mhthe 5 UTR Contains ATG Codons at -200, -165, -142, All in Exon 1

Table S1. Description of KIAA0319 alternative splicing variants in human, mouse and rat.

Var.SpeciesEffects

MHThe 5’UTR contains ATG codons at -200, -165, -142, all in exon 1.

There are stop codons in all frames;ATG at -142 with in-frame stop codon in exon 2.

LHLonger exon 1 by alternative intron 1 donor site.Stop codons in all frames; no new ATG codons.

SHShorter exon 1 by alternative intron 1 donor site.No ATG or stop codons.

bRExon 1b (positions691 to 838in intron 1) included as part of the 5’UTR.

Stop codons in two reading frames. 174bp-ORF with ATG in exon1 (-98).

1H/M/RStart codon in exon 2.

2HNO Signal peptide. First ATG codon in exon 3 (Met46).Putative in-frame ATG codon in exon 1 in var. M.

3HNO Signal peptide nor MANSC domain. First ATG codon in exon 4 (Met270).

4HNO Signal peptidenor MANSC domain. First ATG codon in exon 10 (Met577).

Putative in-frame ATG codon in exon 1 in var. M.

5HDeletion of residues 19-331 including the MANSC domain. Predicted Signal peptide.

MDeletion of residues 19-340including the MANSC domain. Predicted Signal peptide.

AH/M/R---

BHFrameshift after aa 952; 26 new aa. NO TM domain.

Stop codon 15bp upstream exons 20/21 junction: no NMD predicted.

CHDeletion of residues 953-1013. NO TM domain.

DH/M/RNO TM domain nor C6 domain. Frameshift after residue 911 (920 in mouseand rat).

H26 new residues. Stop codon 15bp upstream exons 20/21 junction: no NMDpredicted.

M15 new residues. Stop codon 48bp upstream exons 20/21 junction: no NMDpredicted.

R6 new residues. Stop codon 75bp upstream exons 20/21 junction: NMDpredicted.

ERDeletion of residues 921-961, including the C6 domain.

Δ3aRDeletion of residues 19-144, including the MANSC domain. Predicted Signal peptide.

In variant 2 (2Δ3a), NO Signal peptide; first ATG codon in exon 3 (Met241).

Δ3bHAlternativeintron in exon 3 (+238 to +433).

Frameshift after aa 79, stop codon after 5 new residues: NMDpredicted.

Δ5HDeletion of residues 332-364.

Δ15MFrameshift after residue 773, stop codon after 9 new residues: NMDpredicted.

Δ14-15RDeletion of residues 723-819, including the last PKD domain.

Δ17RIn variant D (DΔ17), deletion of 357bpand residues 873-991, NO TM domain.

zHWith exon 4a (95-213 in intron 4). Stop codons in all frames: NMDpredicted.

yHWith exon 4a-bis (95-240 in intron 4). Stop codons in all frames: NMDpredicted.

TM, transmembrane; NMD, nonsense-mediated mRNA decay (see text).