TABLE 1.

Overview of AS‐related genes and variants modulated in IBD.

Gene	Locus	Spliceosome	Splice variant	Sample	Source	Up/Down‐regulation	Function	References
MYLK	3q21.1	N/A	MLCK1 MLCK2	Colonic mucosal samples with UC and CD, DSS‐induced model sample	Human and mice	Up‐regulation	Pro‐inflammatory	39
KAT2A	17q21.2	SF3b complex	KAT2A	Colonic biopsies from patients with IBD and CRC	Human	Up‐regulation	Pro‐inflammatory	40
LmnA	1q22	U2 and SR	Progerin	Colonic biopsies from healthy controls and patients with IBD, Cbx3 mouse model	Human and mice	Up‐regulation	Pro‐inflammatory	41
PTPRS	19p13.3	N/A	Isoform2 Isoform3 Novel isoform1	DSS‐induced model sample	Mice	Up‐regulation	Pro‐inflammatory	47
KIND1	20p12.3	N/A	Kindlin‐1 short	Intestinal biopsies from KS patients	Human	Up‐regulation	Pro‐inflammatory	48
MYPT1	12q21.2‐q21.31	N/A	MYPT1 variant2	Colonic biopsies from mouse sample	Mice	N/A	Pro‐inflammatory	50
GPR137	11q13.1	ESRP1	Gpr137‐short Gpr137‐long	Tumour, adenoma and normal tissue from CRC patient, AOM/DSS model sample	Human and mice	Up‐regulation	Pro‐inflammatory	51
NOD1	7p14.3	N/A	Nod1Δ10 Nod1Δ10‐11 Nod1Δ10‐12	Human epithelial cells	Human	Up‐regulation	Pro‐inflammatory	59
GP‐2	16p12.3	N/A	GP2#2 GP2#4	Ileal and colonic biopsies from IBD patients	Human	Up‐regulation	Pro‐inflammatory	62
BCL‐G	12p13.2	N/A	BCL‐Gs BCL‐GL	Colonic biopsies from non‐IBD and IBD patients	Human	Down‐regulation	Pro‐inflammatory	64
NOD2	16q12.1	N/A	NOD2‐190 NOD2‐short	Peripheral blood mononuclear cells (PBMC) from healthy donors	Human	Up‐regulation	Pro‐inflammatory	67
MyD88 TLR4 MD‐2	3p22.2 9q33.1 8q21.11	Eftud2	MyD88s sTLR4 MD‐2s	DSS‐induced model sample	Mice	Up‐regulation	Anti‐inflammatory	69
IL23R	1p31.3	N/A	Short peptide Soluble form Truncated Extracellular Non‐responsive	PBMC from healthy donors	Human	Down‐regulation	Anti‐inflammatory	72
CD44	11p13	N/A	CD44v7 CD44v6	Transgenic mice model, colonic biopsies from patient with IBD,	Human and mice	Down‐regulation	Anti‐inflammatory	84 , 86
DR3	1p36.31	N/A	tmDR3	Ileitis murine model	Mice	Up‐regulation	Pro‐inflammatory	89
Fas	10q23.31	N/A	Membrane bound Fas	Colonic biopsies from patient with IBD	Human	Up‐regulation	Anti‐inflammatory	91
CEACAM1	19q13.2	N/A	CEACAM1‐L CEACAM1‐S	Jurkat‐T cell transfection model	Human	Up‐regulation	Anti‐inflammatory	96
IL‐6R	1q21.3	N/A	sIL‐6R	AOM/DSS‐induced model sample	Mice	Up‐regulation	Pro‐inflammatory	100 , 101 , 102 , 103 , 104 , 105 , 106 , 107 , 108
FOXP3	Xp11.23	N/A	FOXP3Δ2 FOXP3Δ2Δ7	Colonic biopsies from CD patients	Human	Up‐regulation	Pro‐inflammatory	112
SP140	2q37.1	N/A	SP140Δ7	Lymphoblastoid cell line	Fetal bovine	Down‐regulation	Pro‐inflammatory	116
CD28	2q33.2	N/A	CD28Δex2 CD28i	Jurkat‐T cell transfection model		Up‐regulation	Anti‐inflammatory	118
TN‐C	9q33.1	N/A	FNIIID	Transfected plasmid, chicken embryo	Chicken	N/A	Fibrosis	125
Igf‐1	12q23.2	N/A	IGF‐IEa IGF‐IEb IGF‐IEc	Intestinal muscle cell from patient with CD and healthy donors	Human	Up‐regulation	Cell hyperplasia, hypertrophy	128
ZBP‐89	3q21.2	N/A	ZBP‐89ΔN ZBP‐89FL	DSS‐induced model sample	Mice	Up‐regulation	Pro‐inflammatory	131
GPR35	2q37.3	N/A	GPR35 short GPR35 long	Transfected plasmid	N/A	N/A	Mediate intracellular pathways	137
EDA	Xq13.1	N/A	EDA	DSS‐induced model sample	Mice	Up‐regulation	Pro‐inflammatory	140
GR	5q31.3	N/A	GRα GRβ	Colonic tissue from CD patients and healthy donors	Human	Up‐regulation	Steroid resistance	143
CARD8	19q13.33	N/A	T60, T54, T51, T48, T47	Lymphoblastoid cell lines of CD patients	Human	N/A	N/A	145
NK‐1R	2p12	N/A	tr‐NK‐1R fl‐NK‐1R	Colonic tissue from UC patients	Human	Up‐regulation	Malignant transformation	146
ORMDL3	17q21.1	N/A	ORMDL3 V1	Hela cells, HEK293 cells, HL60 cells	Human	N/A	N/A	147
PTPN2	18q11.21	N/A	PTPN2‐001 PTPN2‐002 PTPN2‐003	Human peripheral blood mononuclear cells and mouse peritoneal macrophages	Human and mice	N/A	N/A	148
IL15RA	10p15.1	N/A	Variant1 Variant2 Variant3	Colon and duodenum biopsy specimens from healthy individuals	Human	N/A	N/A	149
NR4A2	2q24.1	hnRNPC hnRNPM hnRNPA2B1	N/A	PBMC from donors	Human	Up‐regulation	Anti‐inflammatory	157