Suzanne de Bruijn

215 Structural variants cause ectopic enhancer-gene contact in retinitis pigmentosa TTAGCCAGTGACAGTCCAATACCACAACCAAGGAAGATTTAACAAGGGGA -CACTATAATTATGCCTGTGAATAGCCACTCTACTCC-AGCCTGGGCAAC P-Q P-[R] [R-S] -CACTATAATTATGCCTGTGAATAGCCACTCTACTCC-AGCCTGGGCAAC AGTGTATAGT-------TTTGTTACCCACACAATGGGTGGGTTTGATCAC **** * * ** **** * * * * * ** D ATAGCAAGACCCCATCTCTAAAAATTAAAAAAAAAAT--TTAAATTAGAA P-Q P-[R] [R-S] ATAGCAAGACCCCATCTCTAAAAATTAAAAAAAAA-AT-TTAAATTAGAA **** ** * ** * * * ** ** * * * * * TATCATTTCTA--GCATCTTAGGTAGGTACTTATATCTGGCTTACAGAAG P-Q P-[R] [R-S] TATCATTTCTA--GCATCTTAGGTAGGTACTTATATCTGGCTTACAGAAG TTTTATTACTTACAATAAGTAAGGAGGATATCGGGGATAAATCCCCAAAG * * *** ** ** * *** * * * * *** TCTAAGG T ATTCCTTATTTTTATATCTGCTGTCCACATTTATACAGCTAC P-Q P-[R] [R-S] TCTAAGG T CCCTAAACAAAGGTGATAAAAAGGC---TTTTATTAGGCAGG CAGTGTC T CCCTAAACAAAGGTGATAAAAAGGC---TTTTATTAGGCAGG * ** * * ***** ** ATAAAAATTTTATGACA-----ACTTCAACATGAACCTTATATTTTCGAC P-Q P-[R] [R-S] TTAGCTGAGTTATCATATGTAGAGGTGGAGTAGAGCCAGCTCAGGCCCAG TTAGCTGAGTTATCATATGTAGAGGTGGAGTAGAGCCAGCTCAGGCCCAG ** **** * * * * * ** ** * * * AATGCCTTGCCAAGGAATCTCTGAAGTCCATAGCAGGTCACTGTGAGACC P-Q P-[R] [R-S] *** * **** * * * ** * ** TCTGCGATC-----ACGCCTCTACATACAAATGGAGA-ATAGCTCCTTCC TCTGCGATC-----ACGCCTCTACATACAAATGGAGA-ATAGCTCCTTCC CA-SV4 TAGTTCCCTGTT----- P-Q P-[R] [R-S] TGGGTGGATTTTTAGTA TGGGTGGATTTTTAGTA * * * * ** GGAGAGGAGGA--GGCCCAATGCTGTCAAATTCACTCACCTCCCC---AG ------TAATCGTTCCTGCACTTACTAGTCTAAGAGCCGGGGGAGTCGAT [O-P] [P]-R Q-R ------TAATCGTTCCTGCACTTACTAGTCTAAGAGCCGGGGGAGTCGAT ATGCACTCATCATCCCTGCACTCTGG--TCTGGCATGCAGGTAACGTGCT * *** * ******** *** * * ** * * * GGAGTCCGGGCTGTGGCCTCTCCCACGCCATAAAGAAAAATTCAAAATTA GGAGTCCGGGCTGTGGCCTCTCCCACGCCATAAAGAAAAATTCAAAATTA **** ** * ** * * ** * * * * AATCCTTGTCAGGGAGAGGCCAATCGTAGACACGGTCTCTGCACGATTCG AATCCTTGTCAGGGAGAGGCCAATCGTAGACACGGTCTCTGCACGATTCG CTTCCCCTGGACGTGTCTGCCTCAAATTCTGAGCCACTTCGCCAGAGCAA *** * * *** * * ** ** ** CTCTT CG GATGGTGTAGGAGCACAGCCCGGCTTGTGATTGGCTGAGAT-A CTCTT CG CAAGCAAAGCAACCAAGCAGTCGAATCGGGGATGTTTTATTTA GGCCA CG CAAGCAAAGCAACCAAGCAGTCGAATCGGGGATGTTTTATTTA * ** * * * ** * * * * * * * GCACAGAGCTCCAGCCAATCAGAGCTGAGGCCGTTCTGGTATGAATAAGG TGGCTTTAATAA---TGAAGCCTCTTGGGGAAATTTTAGTTTCCCATTCC TGGCTTTAATAA---TGAAGCCTCTTGGGGAAATTTTAGTTTCCCATTCC * * * ** ** ** * ** * AGAAGGCGGGAGAGAAGGGGAAGGAAAGCCGG-AG--GGGAAAGAAGGTG * *** * * ** * * * * * CAGAAGCGAAAATGCGTCTACAGAATGTTCTTAAAATTTATTACTGTTTA CAGAAGCGAAAATGCGTCTACAGAATGTTCTTAAAATTTATTACTGTTTA TGTTACGTCCC TGTTTTTTCCT TGTTTTTTCCT **** *** [O-P] [P]-R Q-R [O-P] [P]-R Q-R [O-P] [P]-R Q-R [O-P] [P]-R Q-R [O-P] [P]-R Q-R [O-P] [P]-R Q-R PRR11 SMG8 GDPD1 YPEL2 LINC01476 WT O P Q R S PRR11 O P LINC01476 YPEL2 GDPD1 SMG8 PRR11 R Q P LINC01476 R S MIR4729 MIR4729 Figure continues on next page