Suzanne de Bruijn

213 Structural variants cause ectopic enhancer-gene contact in retinitis pigmentosa GAGGAAATCTAGCACAGAGATTAAAAGCATAGGCTCTGGACTTAAC-TCT -CCAG-GAGTTTGAGACCAGCGTGGCCAACATGACAAAACCCTGTCTCCA E-F E-[G] [G-H] -CCAGGAGTTTGAGACCA-GCGTGGCCAACATGACAAAACCCTGTCTCCA GGCAATGGTATAAATAAATGAACTCACTCAAACTTAATTTCCTAATTATG ** * * * * ** *** * B CTAAAAAAATACAAAAATGGCCGGGCACGGTGGCTCACGCCTGTAATCCC E-F E-[G] [G-H] CTAAAAAAATACAAAAATGGCCGGGCACGGTGGCTCACGCCTGTAATCCC *** ** * * * * ***** * ** * * AGCACTTTGGAAGGCCGAGGCAGGTGAATCATGAGCTCAGGAGTTTGAGA E-F E-[G] [G-H] AGCACTTTGGAAGGCCGAGGCAGGTGAATCATGAGCTCAGGAGTTTGAGA AGTTTGTGGGGAGTCCTGGACTT--TCCAGTGACTTGATAGGTGGCCTTA ** * ** ** ** * * * * CCAGCCTGACCAACATGGTGAAACCCCGTCTCTACCCCAAATACAAAAAT E-F E-[G] [G-H] CCATCCTCATTTGTGAAATAGGGCAAATAATTATGCGGTATC---AACCT GTTTCCTCATTTGTGAAATAGGGCAAATAATTATGCGGTATC---AACCT *** * * * * * * ** * TAGCAAGGTGTGGTGGCGGAT-------GCCTGTAGTCCCAGCTACTCGG E-F E-[G] [G-H] AATAAGGTTGTGGTGAGCACTGGATGAGAAATGCATAGAAAGCTTCTAAA AATAAGGTTGTGGTGAGCACTGGATGAGAAATGCATAGAAAGCTTCTAAA * * * ******* * ** * **** ** GAGGCTGAGGCAGGAGAATCACTTGAACCT-------GGGAGGCAGAGGT E-F E-[G] [G-H] ACAGTGCCTGGCAGTCCATAAATGTTAACTATTACTATCACGAAGGCTGT ACAGTGCCTGGCAGTCCATAAATGTTAACTATTACTATCACGAAGGCTGT PRR11 SMG8 GDPD1 YPEL2 LINC01476 WT D E F G H PRR11 SMG8 GDPD1 YPEL2 UK-SV2 D E SMG8 GDPD1 YPEL2 LINC01476 PRR11 G F E YPEL2 LINC01476 G H * * * ** * * * ** * * ** TGCAGTGAGCCAAGATT E-F E-[G] [G-H] TATTCTG---------- TATTCTG---------- * ** AAATAGTTTGAAAATGTGGAAATCATTAAAAAAAAAAATTGTCCCAGGTG AATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTG [D-E] [E]-G F-G AATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTG ---ATG-----TGAGCAGTACATGCCAGGCACTGAATTATGATTCCATTG * *** **** ** ****** ** CCTCAGCCTCCCGAGT------AGCTGGGACTACAGG-CATCCGCCACCA CCTCAGCCTCCCGA------GTAGCTGGGACTACAGG-CATCCGCCACCA ** * * * * * * * * CACCTTGCTAATTTTTGTATTTGGGGTAGAGACGGGGTTTCACCATGTTG CACCTTGCTAATTTTTGTATTTGGGGTAGAGACGGGGTTTCACCATGTTG GAGCCTGGTAGCACTGCCTTTAGATTCCATTTTCCCCATCTCCCTGGAAA * * ** ** * ** * * ** * GTCAGGCTGGTCTCAAACTCCTGAGCTCATGATTCACCTGCCTCGGCCTT GTCAGGCTATTACAAACAAAAATGGGGCCAGGCGTAATAGCTCAGGCCTA CATTCAGGATTACAAACAAAAATGGGGCCAGGCGTAATAGCTCAGGCCTA * ** * * * * ** ***** CCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCATTTTTGT TAACCCCAGCAGTTTGGGAGGCCGAGGTG--GGTGGATCACCTGAGGTCA TAACCCCAGCAGTTTGGGAGGCCGAGGTG--GGTGGATCACCTGAGGTCA * * * **** * *** ** * ATTTTTTTAGTGGAGACAGGGTTTTGTCATGTTGGCCACGCTGGTCTCAA ***** AGAGTTCGAGAC---------------CCGCCTGGCCAACATATAGTGAA * ** ** * ****** * * ** AGAGTTCGAGAC---------------CCGCCTGGCCAACATATAGTGAA ACTCCTGG------------------ ACTCCGTCTCTACCAAAAATAAAAAT ACTCCGTCTCTACCAAAAATAAAAAT [D-E] [E]-G F-G [D-E] [E]-G F-G [D-E] [E]-G F-G [D-E] [E]-G F-G [D-E] [E]-G F-G [D-E] [E]-G F-G MIR4729 MIR4729 MIR4729 Figure continues on next page