Role of Pseudoexons and Pseudointrons in Human Cancer

Table 3

Pseudoexons described in cancer-related genes.

Gene name	Description	Entrez gene	Size (bp) pseudoexon	Activating mutation	Reference
ABCC8	ATP-binding cassette, sub-family C (CFTR MRP), member 8	6833	76	5′ss creation	[103]
ALDH7A1	Aldehyde dehydrogenase 7 family, member A1	501	36	5′ss mutation	[104]
CD40LG	CD40 ligand (TNF superfamily, member 5, hyper-IgM syndrome)	959	59	5′ss creation	[105]
CEP290	Centrosomal protein 290 kDa	80184	128	5′ss creation	[106, 107]
CHM	Choroideremia (Rab escort protein 1)	1121	98	3′ss creation	[108]
COL4A3	Collagen, type IV, alpha 3 (Goodpasture antigen)	1285	74	3′ss creation	[109]
COL11A1	Collagen, type XI, alpha 1	1301	50	5′ss creation	[110]
CTDP1	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	9150	95	5′ss creation	[111]
CYBB	Cytochrome b-245, beta polypeptide (chronic granulomatous disease)	1536	56	5′ss creation	[112]
CYBB			61	5′ss creation	[113]
CYP17A1	Cytochrome P450, family 17, subfamily A, polypeptide 1	1586	94	Upstream 5′ss mutation	[114]
QDPR	Quinoid dihydropteridine reductase	5860	152	5′ss creation	[115]
DPYD	Dihydropyrimidine dehydrogenase	1806	44	5′ss creation	[116]
FBN1	Fibrillin 1	2200	93	5′ss creation	[117]
GHR	Growth hormone receptor	2690	102	SRE deletion	[118, 119]
GUSB	Glucuronidase, beta	2990	68	5′ss creation	[120]
HADH	Hydroxyacyl-coenzyme A dehydrogenase	3033	141	5′ss creation	[103]
HADHB	Hydroxyacyl-coenzyme A dehydrogenase; 3-ketoacyl-coenzyme A thiolase; enoyl-coenzyme A hydratase (trifunctional protein), beta subunit	3032	56; 106	5′ss creation	[121]
HSPG2	Heparan sulfate proteoglycan 2	3339	141	5′ss creation	[103]
SMARCB1	SWI; SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	6598	72	5′ss creation	[122]
ISCU	Iron-sulfur cluster scaffold homolog (E. coli)	23479	86; 100	3′ss creation	[123–125]
SLC14A1 (JK)	Solute carrier family 14 (urea transporter), member 1 (Kidd blood group)		136	Internal 7 kb deletion	[126]
MCCC2	Methylcrotonyl-coenzyme A carboxylase 2 (beta)	64087	64	SRE deletion	[127]
MFGE8	Milk fat globule-EGF factor 8 protein	4240	102	SRE creation	[128]
MLC1	Megalencephalic leukoencephalopathy with subcortical cysts 1	23209	246	5′ss creation	[129]
MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	4552	140	SRE creation	[130]
GPR143	G protein-coupled receptor 143	4935	165	3′ss creation	[131]
OAT	Ornithine aminotransferase (gyrate atrophy)	4942	142	5′ss creation	[132]
OFD1	Oral-facial-digital syndrome 1	8481	62	5′ss creation	[133]
OTC	Ornithine carbamoyltransferase	5009	135	3′ss creation	[134]
PCCA	Propionyl-coenzyme A carboxylase, alpha polypeptide	5095	84	SRE creation	[135]
PCCB	Propionyl-coenzyme A carboxylase, beta polypeptide	5096	72	5′ss creation	[135]
PHEX	Phosphate regulating endopeptidase homolog, X-linked (hypophosphatemia, vitamin D resistant rickets)	5251	50; 100; 170	5′ss creation	[136]
PKHD1	Polycystic kidney and hepatic disease 1 (autosomal recessive)	5314	116	5′ss creation	[137]
PMM2	Phosphomannomutase 2	5373	66	3′ss creation	[138]
PMM2			123	5′ss creation	[138, 139]
PRPF31	PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae)	26121	175	5′ss creation	[140]
RHD	Rh blood group, D antigen	6007	170	Upstream 3′ss deletion and SNP in int7	[141]
RYR1	Ryanodine receptor 1 (skeletal)	6261	119	5′ss creation	[142]
SLC12A3	Solute carrier family 12 (sodium chloride transporters), member 3	6559	238	5′ss creation	[143]
USH2A	Usher syndrome 2A (autosomal recessive, mild)	7399	152	5′ss creation	[144]