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Table 3 Selection of six genes whose alternative splicing is associated with Paget’s disease of bone (PDB)

From: Alternative splicing in osteoclasts and Paget’s disease of bone

 

Description

 

Ψ values (long/long +short) (+/− SD)

all PDBvsHD

Gene symbol

Protein name

AS event description

Alternative products*

All PDB

All HD

p-value**

n=19

n=16

LGALS8

lectin, galactoside-binding, soluble, 8 Galectin-8

cassette exon, 142 nt, coding region, in frame

- isoform 1: 317 aa, 36 kDa (short)

0.08 (0.04)

0.14 (0.04)

0.00001

- isoform 2: 359 aa, 40.5 kDa (long)

USP4

ubiquitin specific peptidase 4

cassette exon, 141 nt, coding region, in frame

- isoform 1: 963 aa, 109 kDa (long)

0.20 (0.04)

0.27 (0.06)

0.0002

(proto-oncogene)

- isoform 2: 916 aa, 104 kDa (short)

CASC4

cancer susceptibility candidate 4

cassette exon, 168 nt, coding region, in frame

- isoform 1: 436 aa, 49 kDa (long)

0.21 (0.06)

0.29 (0.06)

0.001

- isoform 2: 380 aa, 43 kDa (short)

- isoform 3: 177 aa, 21 kDa

RHOT1

ras homolog family member T1

cassette exon, 96 nt, coding region, in frame

- isoform 1: 618 aa, 71 kDa

0.16 (0.04)

0.23 (0.08)

0.001

- isoform 2: 659 aa, 75 kDa (short)

- isoform 3: 691 aa, 80 kDa (long)

MIRO1

- isoform 4: 580 aa, 66 kDa

PIDD

p53-induced death domain protein

3′ AS site, 51 nt, coding region, in frame

- isoform 1 910 aa, 100 kDa (long)

0.63 (0.06)

0.58 (0.05)

0.01

- isoform 2: 893 aa, 98 kD (short)

- isoform 3: 753 aa, 83 kDa

LRDD

- isoform 4: 597 aa, 67 kDa

TBC1D25

TBC1 domain family, member 25

cassette exon, 155 nt, 5′ untranslated region

- isoform 1: 688 aa, 76 kDa (long)

0.63 (0.05)

0.68 (0.06)

0.03

OATL1

- isoform 2: 100 aa, 10 kDa (short)

  1. *The “long” and “short” isoforms correspond to the “long” and “short” mRNA variants we investigated.
  2. PBD (Paget’s disease of bone) (n=19); HD healthy donors (16).
  3. **The Ψ (PSI) values for each AS event have been t-tested (p-value) (all PBD vs HD).