The functional modulation of epigenetic regulators by alternative splicing

BMC Genomics

Table 4 Cases for which alternative splicing sequence changes result in drastically affected isoforms

Gene name	Species	Reference Isoform Size	Alternative Isoform Size	Domains affected
SETDB1	H.s.	1290	249	MBD, PRESET, SET, TUDOR
SETDB1	H.s.	1290	151	MBD, PRESET, SET, TUDOR
SMARCA2 (BRM)	H.s.	1590	278	HSA, BRK, DEXHC, HELICASE_C, BROMO
SMARCA2 (BRM)	H.s.	1590	254	HSA, BRK, DEXHC, HELICASE_C, BROMO
SMARCA2 (BRM)	H.s.	1590	236	HSA, BRK, DEXHC, HELICASE_C, BROMO
SMARCA2 (BRM)	H.s.	1590	119	HSA, BRK, DEXHC, HELICASE_C, BROMO
SMARCA4 (BRG1)	H.s.	1679	628	BRK, BROMO, DEXHC, HSA
SUV39H1	H.s.	412	409	CHROMO, PRESET, SET
MLL	H.s.	3969	511	BROMO, FYRC, FYRN, PHD, SET, ZF-CXXC
ATM	H.s.	3056	138	FAT, FATC, PI3_PI4 KINASE
MORF4L1	H.s.	362	235	MRG
EHMT1	H.s.	1267	825	ANK, PRESET, SET
WBP7 (MLL4)	H.s.	2715	582	ZF_CXXC, PHD, FYRC, FYRN, SET
Setdb1	M.m.	1308	500	MBD, PRESET, TUDOR
Stk4	M.m.	487	126	PKINASE
Htatip	M.m.	546	302	CHROMO
Suv39h2	M.m.	477	257	CHROMO, PRESET, SET
Fbxl10 (Jhdm1b)	M.m.	1309	114	JMJC, ZF_CXXC
Su(var)3–9	D.m.	635	475	CHROMO, PRESET, SET
mez2	Z.m.	894	341	SET

In the "Gene name" column we list the standard names of the proteins, although in some cases we also provide alternative names that are frequently used in the literature. In the "Species" column H.s., M.m., D.m., C.e., O.s., X.l. and Z.m. mean Homo sapiens, Mus musculus, Drosophila melanogaster, Caenorhabditis elegans, Oryza sativa, Xenopus laevis and Zea mays, respectively. The sizes of the different isoforms are given in amino acid number. *In this case, although the ANK protein interaction domain is lost, the NFSP transcription factor binding domain is retained.

ISSN: 1471-2164