Table 1.
CFseq Primers
| ID | Forward primer sequence | Reverse primer sequence | Length | Strand | Forward primer start | Forward primer end | Reverse primer start | Reverse primer end | Forward length | Reverse length |
|---|---|---|---|---|---|---|---|---|---|---|
| CFTR_promotor | 5′-TGCTTGGCTTCCTTTCGGTGGAT-3′ | 5′-CGGCAGTGTGGGTCTGATGCATT-3′ | 364 | F | 117119062 | 117119084 | 117119403 | 117119425 | 22 | 22 |
| CFTR_utr5_1 | 5′-TGGGCCGGTAATTACGCAAAGCA-3′ | 5′-CTTCCTAGACCCTCCTTCGCGTC-3′ | 400 | F | 117119232 | 117119254 | 117119609 | 117119631 | 22 | 22 |
| CFTR_utr5_2 | 5′-CGGAACTTTTCGGCTCTCTAAGGC-3′ | 5′-CGCACCTCCCTTTCCCGATTCTG-3′ | 397 | F | 117119426 | 117119449 | 117119800 | 117119822 | 23 | 22 |
| CFTR_rs139688774 | 5′-CCTAAAGAGAGGCCGCGACTGTC-3′ | 5′-ACCTACTACTCTGGGTGCCTGCC-3′ | 394 | F | 117119694 | 117119716 | 117120065 | 117120087 | 22 | 22 |
| CFTR_exon_1 | 5′-GTGGGTGGAGAAAGCCGCTAGAG-3′ | 5′-CAACCCATACACACGCCCTCCTC-3′ | 385 | F | 117119887 | 117119909 | 117120249 | 117120271 | 22 | 22 |
| CFTR_exon_2n1∗ | 5′-GTGACAGTCACATTAGTTCAGAGAT-3′ | 5′-ACTTATAATATGTTTGCTTTCTCTTCTC-3′ | 407 | F | 117144095 | 117144119 | 117144474 | 117144501 | 24 | 27 |
| CFTR_exon_3∗ | 5′-AGGACAACTAAAATATTTGCACATGC-3′ | 5′-AAATTGCCACCCGTGTTCCAGGA-3′ | 373 | F | 117149029 | 117149054 | 117149379 | 117149401 | 25 | 22 |
| CFTR_exon_4∗ | 5′-AGTCTTGTGTTGAAATTCTCAGGGT-3′ | 5′-TCCCTTACTTGTACCAGCTCACT-3′ | 389 | F | 117170876 | 117170900 | 117171242 | 117171264 | 24 | 22 |
| CFTR_exon_5∗ | 5′-TCTGCCTAGATGCTGGGAAATAA-3′ | 5′-CCCAGGAAAACTCCGCCTTTCCA-3′ | 400 | F | 117174096 | 117174118 | 117174473 | 117174495 | 22 | 22 |
| CFTR_exon_6n | 5′-TTAGTGTGCTCAGAACCACGAAG-3′ | 5′-TGACACTGAAGATCACTGTTCTATGCA-3′ | 405 | F | 117175170 | 117175192 | 117175548 | 117175574 | 22 | 26 |
| CFTR_exon_7 | 5′-GGTGGAAGTCTACCATGATAAACA-3′ | 5′-GCGTCTGGCACATAGGAGGCATT-3′ | 398 | R | 117176788 | 117176811 | 117176414 | 117176436 | 23 | 22 |
| CFTR_exon_8 | 5′-CATTAGAACTGATCTATTGACTGA-3′ | 5′-ACCATGCTCAGATCTTCCATTCCA-3′ | 400 | R | 117180444 | 117180467 | 117180068 | 117180091 | 23 | 23 |
| CFTR_exon_9 | 5′-AAGATGTAGCACAATGAGAGTAT-3′ | 5′-ACAACCATGAGCACCTGGCCATT-3′ | 368 | F | 117181977 | 117181999 | 117182322 | 117182344 | 22 | 22 |
| CFTR_exon_10 | 5′-TGGATCATGGGCCATGTGCTTTT-3′ | 5′-TCTCCAAAAATACCTTCCAGCACT-3′ | 399 | F | 117188572 | 117188594 | 117188947 | 117188970 | 22 | 23 |
| CFTR_exon_11n | 5′-TATACACTTCTGCTTAGGATGATAATTG-3′ | 5′-GGAAACATAAATATATGTAGACTAACCG-3′ | 393 | F | 117199428 | 117199455 | 117199793 | 117199820 | 27 | 27 |
| CFTR_processed_transcript_3 | 5′-GCCCCGATCACCAAATGCAAACA-3′ | 5′-ACCTGACTTCTCACTCATGGCTGT-3′ | 400 | F | 117204633 | 117204655 | 117205009 | 117205032 | 22 | 23 |
| CFTR_exon_12n | 5′-TGTGCCTTTCAAATTCAGATTGAGCA-3′ | 5′-AGGCAAACAAATACACTGACACCAAG-3′ | 407 | F | 117227727 | 117227752 | 117228108 | 117228133 | 25 | 25 |
| CFTR_intron_12∗ | 5′-ACAGAGTGTGGGGAAGAAACTGTGT-3′ | 5′-TGAAACCATAAGCAAGTAAAATCTACA-3′ | 391 | F | 117229276 | 117229300 | 117229640 | 117229666 | 24 | 26 |
| CFTR_exon_13† | 5′-TGCATGTAGTGAACTGTTTAAGGCA-3′ | 5′-AGCATGAGGCGGTGAGAAAAGGT-3′ | 391 | F | 117230316 | 117230340 | 117230684 | 117230706 | 24 | 22 |
| CFTR_exon_14_3a | 5′-ACAAAATGCTAAAATACGAGACA-3′ | 5′-GTCCAGGAGACAGGAGCATCTCC-3′ | 350 | F | 117231911 | 117231933 | 117232238 | 117232260 | 22 | 22 |
| CFTR_exon_14_3b | 5′-TCATGGGATGTGATTCTTTCGACCA-3′ | 5′-TCAGGACAGACTGCCTCCTTCGT-3′ | 381 | F | 117232152 | 117232176 | 117232510 | 117232532 | 24 | 22 |
| CFTR_exon_14_3c | 5′-ACTCAATTGCATTCTGTGGGGTGA-3′ | 5′-AGCCTTTAGAGAGAAGGCTGTCCT-3′ | 352 | R | 117232738 | 117232761 | 117232410 | 117232433 | 23 | 23 |
| CFTR_exon_15 | 5′-AAGCTGTGTTGCTCCAGTAGACA-3′ | 5′-TGTATACATCCCCAAACTATCTT-3′ | 395 | F | 117234787 | 117234809 | 117235159 | 117235181 | 22 | 22 |
| CFTR_exon_16† | 5′-TGTGGGCATGGGAGGAATAGGTG-3′ | 5′-GGAGTGCGGTGGCTACTCACAAT-3′ | 385 | F | 117242814 | 117242836 | 117243176 | 117243198 | 22 | 22 |
| CFTR_exon_17 | 5′-TCAGTAAGTAACTTTGGCTGCCA-3′ | 5′-ACCACAGGCCCTATTGATGGTGG-3′ | 359 | F | 117243536 | 117243558 | 117243872 | 117243894 | 22 | 22 |
| CFTR_exon_18n | 5′-GCTAATTCTTATTTGGGTTCTGAATGC-3′ | 5′-CAGGTTTGGGCCAGGTAAGCAGT-3′ | 407 | F | 117246609 | 117246635 | 117246993 | 117247015 | 26 | 22 |
| CFTR_exon_19n | 5′-ACACACTTTGTCCACTTTGCAATGT-3′ | 5′-AGTTTCCTTTTATATACACATGCATGT-3′ | 375 | F | 117250507 | 117250531 | 117250855 | 117250881 | 24 | 26 |
| CFTR_exon_20_2a1 | 5′-AGTTCCCATCTCTGGTAGCCAAGT-3′ | 5′-GTTGACAGGTACAAGAACCAGTTGG-3′ | 367 | F | 117251413 | 117251436 | 117251755 | 117251779 | 23 | 24 |
| CFTR_exon_20_2b1 | 5′-TCCGATTTCAAGGAAATTATTTGT-3′ | 5′-GGACGGCAGCCTTACTTTGAAAC-3′ | 362 | R | 117252038 | 117252061 | 117251700 | 117251722 | 23 | 22 |
| CFTR_exon_21 | 5′-AAGTCGTTCACAGAAGAGAGAAA-3′ | 5′-ACAGGTGAAAGAATGCTCACTGC-3′ | 391 | F | 117254606 | 117254628 | 117254974 | 117254996 | 22 | 22 |
| CFTR_exon_22_2a | 5′-AGCCCGACAAATAACCAAGTGACA-3′ | 5′-AATCTCACCCTCTGGCCAGGACT-3′ | 386 | F | 117267447 | 117267470 | 117267810 | 117267832 | 23 | 22 |
| CFTR_exon_22_2b | 5′-TGGCTTCTTTAGTTATTAACCTAGCA-3′ | 5′-CCTCAGGGGGCCAAATGACTGTC-3′ | 373 | R | 117268068 | 117268093 | 117267721 | 117267743 | 25 | 22 |
| CFTR_intron_target_27b | 5′-AGTAGTTGAATCATTCAGTGGGT-3′ | 5′-ACTTCAATGCACCTCCTCCCTGA-3′ | 353 | F | 117279805 | 117279827 | 117280135 | 117280157 | 22 | 22 |
| CFTR_exon_23 | 5′-TGAGTACAAGTATCAAATAGCAGT-3′ | 5′-TGGTCAGGATTGAAAGTGTGCAACA-3′ | 397 | R | 117282697 | 117282720 | 117282324 | 117282348 | 23 | 24 |
| CFTR_exon_24 | 5′-CCTGTTGCTCCAGGTATGTTAGGGT-3′ | 5′-ACTTGATGGTAAGTACATGGGTGT-3′ | 376 | R | 117293111 | 117293135 | 117292760 | 117292783 | 24 | 23 |
| CFTR_exon_25∗ | 5′-ATGTGTCACCATGAAGCAGGCAT-3′ | 5′-GCAGGTAGTGGGGGTAGAGGGAT-3′ | 377 | R | 117304966 | 117304988 | 117304612 | 117304634 | 22 | 22 |
| CFTR_exon_26∗ | 5′-TGCAGGAACTATCACATGTGAGA-3′ | 5′-CCCCATGGTTGAAAAGCTGATTGTGG-3′ | 355 | R | 117305675 | 117305697 | 117305343 | 117305368 | 22 | 25 |
| CFTR_exon_27_6a | 5′-TGTGCCAGTTTCTGTCCCTGCTC-3′ | 5′-AGGCAGAGGTAACTGTTCCACGA-3′ | 376 | F | 117306889 | 117306911 | 117307242 | 117307264 | 22 | 22 |
| CFTR_exon_27_6c | 5′-GAAACTCGTTAATTTGTAGTGTTG-3′ | 5′-ACCATCCTGTCCCCTGTGAAAGA-3′ | 400 | F | 117307518 | 117307541 | 117307895 | 117307917 | 23 | 22 |
| CFTR_exon_27_6b | 5′-ACCGCTGAAGTTTCCAGTTATCA-3′ | 5′-TCGTGGGACAGTCACCTCATGGA | 397 | R | 117307585 | 117307607 | 117307211 | 117307233 | 22 | 22 |
| CFTR_exon_27_6e1 | 5′-CCATGGGCACTGTGGGTAGACAC-3′ | 5′-TAGGTTCTCCCCTGTCCCAGTT-3′ | 372 | F | 117308082 | 117308104 | 117308432 | 117308453 | 22 | 21 |
| CFTR_exon_27_6d1 | 5′-ACATCTAGCCTGAAAACATACCA-3′ | 5′-TCCAGATCCTGGAAATCAGGGTT-3′ | 373 | R | 117308142 | 117308164 | 117307792 | 117307814 | 22 | 22 |
| CFTR_exon_27_6f | 5′-TGAAATATTGACTTTTTATGGCACT-3′ | 5′-TGGAGTGAGAGACTGATGAAACA-3′ | 393 | F | 117308381 | 117308405 | 117308751 | 117308773 | 24 | 22 |
F, forward; R, reverse.
∗
These primers were also used for real-time quantitative PCR (qPCR) verification of the predicted CNVs in exon 2, 3, 4, 5, 25, and 26, and intron 12.
†
These primers were used in qPCR verification to target reference exons 13 and 16, which were used for normalize the amplification signal at the exons of interest.