Visualization of regulatory element with DNMs in transcripts



Visualization of de novo variants in transcripts


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.

Transcripts
Transcript ID Transcript exon region Coding exon region
ENST00000261438 [[38665816, 38666082], [38682207, 38682303], [38690205, 38690692], [38691349, 38691500], [38696366, 38696527], [38698702, 38702663]] [[38682246, 38682303], [38690205, 38690692], [38691349, 38691500], [38696366, 38696527], [38698702, 38698884]]
ENST00000514033 [[38665817, 38666082], [38682207, 38682303], [38690205, 38690692], [38691349, 38692372]] [[38682246, 38682303], [38690205, 38690692], [38691349, 38691504]]
ENST00000482150 [[38665964, 38666082], [38682207, 38682606]] None
NM_016531 [[38665789, 38666082], [38682207, 38682303], [38690205, 38690692], [38691349, 38691500], [38696366, 38696527], [38698702, 38703129]] [[38682246, 38682303], [38690205, 38690692], [38691349, 38691500], [38696366, 38696527], [38698702, 38698884]]
Promoter
Chrom Start End Description
chr4 38665659 38665670 CAGE_peak_6_at_KLF3_5end
chr4 38665703 38665713 CAGE_peak_5_at_KLF3_5end
chr4 38665753 38665757 CAGE_peak_7_at_KLF3_5end
chr4 38665769 38665801 CAGE_peak_2_at_KLF3_5end
chr4 38665810 38665827 CAGE_peak_1_at_KLF3_5end
chr4 38665866 38665878 CAGE_peak_4_at_KLF3_5end
chr4 38665883 38665922 CAGE_peak_3_at_KLF3_5end
chr4 38665935 38665944 CAGE_peak_9_at_KLF3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I038687 38687620 38687769 0.51 [{'connected_gene': 'TLR10', 'score': 10.41}, {'connected_gene': 'TLR1', 'score': 10.03}, {'connected_gene': 'FAM114A1', 'score': 10.02}, {'connected_gene': 'TLR6', 'score': 10.02}, {'connected_gene': 'MIR574', 'score': 10.01}, {'connected_gene': 'KLF3-AS1', 'score': 0.34}, {'connected_gene': 'KLF3', 'score': 0.34}, {'connected_gene': 'LOC105374413', 'score': 0.22}]
chr4 GH04I038688 38688574 38689151 0.31 [{'connected_gene': 'TLR10', 'score': 10.42}, {'connected_gene': 'TLR1', 'score': 10.03}, {'connected_gene': 'TLR6', 'score': 10.03}, {'connected_gene': 'FAM114A1', 'score': 10.02}, {'connected_gene': 'MIR574', 'score': 10.02}, {'connected_gene': 'KLF3-AS1', 'score': 0.34}, {'connected_gene': 'KLF3', 'score': 0.34}, {'connected_gene': 'LOC105374413', 'score': 0.22}]
chr4 GH04I038684 38684562 38685944 0.38 [{'connected_gene': 'KLF3-AS1', 'score': 28.21}, {'connected_gene': 'TLR10', 'score': 10.41}, {'connected_gene': 'TLR1', 'score': 10.02}, {'connected_gene': 'TLR6', 'score': 10.02}, {'connected_gene': 'FAM114A1', 'score': 10.01}, {'connected_gene': 'MIR574', 'score': 10.01}, {'connected_gene': 'ENSG00000271958', 'score': 9.02}, {'connected_gene': 'KLF3', 'score': 0.34}, {'connected_gene': 'LOC105374413', 'score': 0.22}]
chr4 GH04I038686 38686094 38687331 0.38 [{'connected_gene': 'KLF3-AS1', 'score': 28.21}, {'connected_gene': 'TLR10', 'score': 10.41}, {'connected_gene': 'TLR1', 'score': 10.02}, {'connected_gene': 'TLR6', 'score': 10.02}, {'connected_gene': 'FAM114A1', 'score': 10.01}, {'connected_gene': 'MIR574', 'score': 10.01}, {'connected_gene': 'KLF3', 'score': 0.34}, {'connected_gene': 'LOC105374413', 'score': 0.22}]
chr4 GH04I038680 38680392 38682935 0.51 [{'connected_gene': 'KLF3-AS1', 'score': 11.79}, {'connected_gene': 'TLR1', 'score': 9.92}, {'connected_gene': 'TLR6', 'score': 9.92}, {'connected_gene': 'FAM114A1', 'score': 9.91}, {'connected_gene': 'MIR574', 'score': 9.91}, {'connected_gene': 'ENSG00000271958', 'score': 8.14}, {'connected_gene': 'KLF3', 'score': 0.37}, {'connected_gene': 'LOC105374413', 'score': 0.21}]
chr4 GH04I038692 38692964 38695329 0.38 [{'connected_gene': 'KLF3-AS1', 'score': 12.0}, {'connected_gene': 'MIR574', 'score': 10.13}, {'connected_gene': 'FAM114A1', 'score': 10.13}, {'connected_gene': 'KLF3', 'score': 0.31}, {'connected_gene': 'LOC105374413', 'score': 0.25}]
chr4 GH04I038696 38696184 38696205 0.42 [{'connected_gene': 'KLF3-AS1', 'score': 0.29}, {'connected_gene': 'KLF3', 'score': 0.29}, {'connected_gene': 'LOC105374413', 'score': 0.25}]
chr4 GH04I038685 38684400 38684549 0.58 [{'connected_gene': 'KLF3-AS1', 'score': 0.37}, {'connected_gene': 'KLF3', 'score': 0.34}, {'connected_gene': 'LOC105374413', 'score': 0.22}]
chr4 GH04I038676 38676746 38679335 1.02 [{'connected_gene': 'KLF3-AS1', 'score': 28.13}, {'connected_gene': 'ENSG00000271958', 'score': 10.14}, {'connected_gene': 'KLF3', 'score': 0.39}, {'connected_gene': 'LOC105374413', 'score': 0.2}]
chr4 GH04I038648 38648862 38649438 0.2 [{'connected_gene': 'KLF3-AS1', 'score': 26.58}, {'connected_gene': 'GC04M038346', 'score': 0.37}, {'connected_gene': 'KLF3', 'score': 0.37}]
chr4 GH04I038654 38654028 38655821 0.6 [{'connected_gene': 'KLF3-AS1', 'score': 28.4}, {'connected_gene': 'KLF3', 'score': 0.44}, {'connected_gene': 'GC04M038346', 'score': 0.34}]
chr4 GH04I038658 38658147 38659901 0.2 [{'connected_gene': 'KLF3-AS1', 'score': 0.44}, {'connected_gene': 'KLF3', 'score': 0.44}, {'connected_gene': 'GC04M038346', 'score': 0.31}]
chr4 GH04I038759 38759358 38764506 1.31 [{'connected_gene': 'TLR1', 'score': 29.96}, {'connected_gene': 'TLR6', 'score': 21.24}, {'connected_gene': 'TLR10', 'score': 14.88}, {'connected_gene': 'FAM114A1', 'score': 12.16}, {'connected_gene': 'MIR574', 'score': 12.16}, {'connected_gene': 'ENSG00000271958', 'score': 4.41}, {'connected_gene': 'KLF3', 'score': 3.37}, {'connected_gene': 'RNA5SP158', 'score': 0.77}]
chr4 GH04I038785 38785084 38787178 1.27 [{'connected_gene': 'TLR1', 'score': 45.35}, {'connected_gene': 'TLR6', 'score': 37.53}, {'connected_gene': 'MIR574', 'score': 11.34}, {'connected_gene': 'FAM114A1', 'score': 11.34}, {'connected_gene': 'KLF3', 'score': 6.99}, {'connected_gene': 'TLR10', 'score': 0.77}]
chr4 GH04I038691 38691079 38692402 0.58 [{'connected_gene': 'MIR574', 'score': 10.13}, {'connected_gene': 'FAM114A1', 'score': 10.13}, {'connected_gene': 'ENSG00000271958', 'score': 9.57}, {'connected_gene': 'KLF3-AS1', 'score': 8.5}, {'connected_gene': 'KLF3', 'score': 0.31}, {'connected_gene': 'LOC105374413', 'score': 0.23}]
chr4 GH04I039456 39456666 39460401 2.28 [{'connected_gene': 'RPL9', 'score': 701.05}, {'connected_gene': 'LIAS', 'score': 550.77}, {'connected_gene': 'PDS5A', 'score': 41.5}, {'connected_gene': 'WDR19', 'score': 21.59}, {'connected_gene': 'ENSG00000250568', 'score': 20.15}, {'connected_gene': 'RFC1', 'score': 17.8}, {'connected_gene': 'KLF3-AS1', 'score': 12.11}, {'connected_gene': 'FAM114A1', 'score': 12.06}, {'connected_gene': 'UGDH-AS1', 'score': 10.0}, {'connected_gene': 'KLF3', 'score': 9.83}, {'connected_gene': 'LOC401127', 'score': 5.85}, {'connected_gene': 'ENSG00000238797', 'score': 0.37}]
chr4 GH04I038322 38322358 38323659 0.98 [{'connected_gene': 'PGM2', 'score': 10.38}, {'connected_gene': 'KLF3', 'score': 9.85}, {'connected_gene': 'LINC02513', 'score': 0.44}, {'connected_gene': 'LOC105374409', 'score': 0.26}]
chr4 GH04I038661 38661400 38676314 2.61 [{'connected_gene': 'KLF3', 'score': 565.01}, {'connected_gene': 'KLF3-AS1', 'score': 29.14}, {'connected_gene': 'ENSG00000271958', 'score': 13.56}, {'connected_gene': 'RFC1', 'score': 11.52}, {'connected_gene': 'HNRNPRP3', 'score': 10.47}, {'connected_gene': 'PGM2', 'score': 10.36}, {'connected_gene': 'KLHL5', 'score': 6.14}, {'connected_gene': 'TLR6', 'score': 3.31}, {'connected_gene': 'TLR1', 'score': 3.15}, {'connected_gene': 'LOC105374413', 'score': 0.18}]
chr4 GH04I039040 39040539 39048600 2.68 [{'connected_gene': 'KLHL5', 'score': 561.36}, {'connected_gene': 'ENSG00000249685', 'score': 17.23}, {'connected_gene': 'TMEM156', 'score': 6.28}, {'connected_gene': 'TLR1', 'score': 2.79}, {'connected_gene': 'TLR6', 'score': 2.52}, {'connected_gene': 'KLF3', 'score': 2.1}, {'connected_gene': 'GC04P038912', 'score': 0.12}]
chr4 GH04I038948 38948071 38950044 1.2 [{'connected_gene': 'KLHL5', 'score': 10.82}, {'connected_gene': 'KLB', 'score': 10.29}, {'connected_gene': 'RNU6-887P', 'score': 10.29}, {'connected_gene': 'KLF3', 'score': 4.75}, {'connected_gene': 'GC04P038912', 'score': 0.28}, {'connected_gene': 'TMEM156', 'score': 0.18}]
chr4 GH04I038855 38855317 38859275 2.52 [{'connected_gene': 'TLR6', 'score': 596.44}, {'connected_gene': 'TLR1', 'score': 578.57}, {'connected_gene': 'FAM114A1', 'score': 9.34}, {'connected_gene': 'KLF3', 'score': 8.63}, {'connected_gene': 'KLHL5', 'score': 1.36}]
chr4 GH04I038528 38528802 38530599 1.44 [{'connected_gene': 'TLR6', 'score': 22.31}, {'connected_gene': 'TLR1', 'score': 19.72}, {'connected_gene': 'RFC1', 'score': 16.32}, {'connected_gene': 'WDR19', 'score': 15.08}, {'connected_gene': 'KLF3', 'score': 6.74}, {'connected_gene': 'LINC01258', 'score': 0.44}, {'connected_gene': 'LINC02278', 'score': 0.29}, {'connected_gene': 'GC04M038346', 'score': 0.15}]
chr4 GH04I038309 38309889 38311603 1.45 [{'connected_gene': 'TLR6', 'score': 10.06}, {'connected_gene': 'KLF3', 'score': 2.04}, {'connected_gene': 'LINC02513', 'score': 0.37}, {'connected_gene': 'LOC105374409', 'score': 0.29}]
chr4 GH04I038582 38582560 38583789 0.69 [{'connected_gene': 'ENSG00000271958', 'score': 11.71}, {'connected_gene': 'KLF3-AS1', 'score': 10.66}, {'connected_gene': 'KLF3', 'score': 10.66}, {'connected_gene': 'LINC02278', 'score': 0.37}, {'connected_gene': 'LOC102723415', 'score': 0.31}, {'connected_gene': 'GC04M038346', 'score': 0.25}]
chr4 GH04I038619 38619822 38622736 1.2 [{'connected_gene': 'ENSG00000271958', 'score': 572.54}, {'connected_gene': 'KLF3-AS1', 'score': 11.3}, {'connected_gene': 'KLF3', 'score': 11.3}, {'connected_gene': 'GC04M038346', 'score': 0.44}]