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
ENST00000377669 [[74260225, 74269808], [74289504, 74289662], [74339074, 74339137], [74387288, 74387424], [74419963, 74420510], [74518117, 74518207], [74569126, 74569186]] [[74269626, 74269808], [74289504, 74289662], [74339074, 74339137], [74387288, 74387424], [74419963, 74420510], [74518117, 74518207], [74569126, 74569159]]
ENST00000377666 [[74269535, 74269808], [74289504, 74289662], [74339074, 74339137], [74387288, 74387424], [74419963, 74420510], [74518117, 74518207], [74569126, 74569190], [74708108, 74708394]] [[74269626, 74269808], [74289504, 74289662], [74339074, 74339137], [74387288, 74387424], [74419963, 74420510], [74518117, 74518207], [74569126, 74569159]]
ENST00000472022 [[74387009, 74387424], [74419963, 74420510], [74518117, 74518207], [74569126, 74569193]] None
NM_007249 [[74260148, 74269808], [74289504, 74289662], [74339074, 74339137], [74387288, 74387424], [74419963, 74420510], [74518117, 74518207], [74569126, 74569190], [74707875, 74708066]] [[74269626, 74269808], [74289504, 74289662], [74339074, 74339137], [74387288, 74387424], [74419963, 74420510], [74518117, 74518207], [74569126, 74569159]]
Promoter
Chrom Start End Description
chr13 74707894 74707947 CAGE_peak_6_at_KLF12_5end
chr13 74708029 74708077 CAGE_peak_2_at_KLF12_5end
chr13 74708208 74708220 CAGE_peak_12_at_KLF12_5end
chr13 74708246 74708264 CAGE_peak_8_at_KLF12_5end
chr13 74708269 74708291 CAGE_peak_7_at_KLF12_5end
chr13 74708372 74708409 CAGE_peak_4_at_KLF12_5end
chr13 74708411 74708436 CAGE_peak_3_at_KLF12_5end
chr13 74708475 74708499 CAGE_peak_5_at_KLF12_5end
chr13 74708504 74708549 CAGE_peak_1_at_KLF12_5end
chr13 74708552 74708573 CAGE_peak_9_at_KLF12_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I073752 73752672 73752745 0.26 [{'connected_gene': 'KLF12', 'score': 3.6}, {'connected_gene': 'ENSG00000280348', 'score': 0.25}, {'connected_gene': 'LINC00393', 'score': 0.16}]
chr13 GH13I073764 73764619 73768591 1.33 [{'connected_gene': 'KLF12', 'score': 9.86}, {'connected_gene': 'ENSG00000280348', 'score': 0.29}, {'connected_gene': 'LINC00393', 'score': 0.15}]
chr13 GH13I073701 73701225 73704592 0.9 [{'connected_gene': 'KLF12', 'score': 7.88}, {'connected_gene': 'LINC00393', 'score': 0.26}, {'connected_gene': 'ENSG00000280348', 'score': 0.15}]
chr13 GH13I074056 74056863 74057898 0.97 [{'connected_gene': 'KLF12', 'score': 4.49}, {'connected_gene': 'GC13M074036', 'score': 0.37}, {'connected_gene': 'GC13M074126', 'score': 0.19}]
chr13 GH13I074024 74024684 74028329 1.25 [{'connected_gene': 'KLF12', 'score': 4.5}, {'connected_gene': 'GC13M074036', 'score': 0.39}, {'connected_gene': 'ENSG00000279463', 'score': 0.09}]
chr13 GH13I073942 73942706 73944376 0.38 [{'connected_gene': 'KLF12', 'score': 6.56}, {'connected_gene': 'GC13M074036', 'score': 0.15}, {'connected_gene': 'ENSG00000279463', 'score': 0.15}]
chr13 GH13I074022 74022832 74024211 0.38 [{'connected_gene': 'KLF12', 'score': 4.49}, {'connected_gene': 'GC13M074036', 'score': 0.37}, {'connected_gene': 'ENSG00000279463', 'score': 0.1}]
chr13 GH13I074127 74127724 74137147 1.74 [{'connected_gene': 'KLF12', 'score': 23.65}, {'connected_gene': 'GC13M074126', 'score': 0.77}, {'connected_gene': 'GC13P074152', 'score': 0.34}]
chr13 GH13I074060 74060745 74064535 1.06 [{'connected_gene': 'KLF12', 'score': 5.07}, {'connected_gene': 'GC13M074036', 'score': 0.34}, {'connected_gene': 'GC13M074126', 'score': 0.2}]
chr13 GH13I073937 73937989 73939143 0.49 [{'connected_gene': 'KLF12', 'score': 6.55}, {'connected_gene': 'ENSG00000279463', 'score': 0.16}, {'connected_gene': 'GC13M074036', 'score': 0.15}]
chr13 GH13I073933 73933508 73935017 0.98 [{'connected_gene': 'KLF12', 'score': 9.89}, {'connected_gene': 'ENSG00000279463', 'score': 0.17}, {'connected_gene': 'GC13M074036', 'score': 0.15}]
chr13 GH13I073945 73945801 73946200 0.2 [{'connected_gene': 'KLF12', 'score': 6.54}, {'connected_gene': 'GC13M074036', 'score': 0.16}, {'connected_gene': 'ENSG00000279463', 'score': 0.15}]
chr13 GH13I074052 74052303 74053191 0.62 [{'connected_gene': 'KLF12', 'score': 4.87}, {'connected_gene': 'GC13M074036', 'score': 0.39}, {'connected_gene': 'GC13M074126', 'score': 0.18}]
chr13 GH13I074046 74046646 74049337 0.94 [{'connected_gene': 'KLF12', 'score': 5.56}, {'connected_gene': 'GC13M074036', 'score': 0.44}, {'connected_gene': 'GC13M074126', 'score': 0.18}]
chr13 GH13I074058 74058553 74059460 0.2 [{'connected_gene': 'KLF12', 'score': 4.7}, {'connected_gene': 'GC13M074036', 'score': 0.34}, {'connected_gene': 'GC13M074126', 'score': 0.2}]
chr13 GH13I073870 73870092 73872306 0.97 [{'connected_gene': 'KLF12', 'score': 2.91}, {'connected_gene': 'ENSG00000279463', 'score': 0.31}, {'connected_gene': 'GC13M074036', 'score': 0.1}]
chr13 GH13I074168 74168304 74168453 0.72 [{'connected_gene': 'KLF12', 'score': 550.77}, {'connected_gene': 'GC13P074217', 'score': 0.25}]
chr13 GH13I073713 73713648 73716735 0.93 [{'connected_gene': 'LINC00393', 'score': 0.23}, {'connected_gene': 'ENSG00000280348', 'score': 0.18}, {'connected_gene': 'KLF12', 'score': 0.05}]
chr13 GH13I073686 73686086 73686330 0.4 [{'connected_gene': 'LINC00393', 'score': 0.34}, {'connected_gene': 'ENSG00000280348', 'score': 0.14}, {'connected_gene': 'KLF12', 'score': 0.04}]
chr13 GH13I073708 73708504 73708653 0.62 [{'connected_gene': 'LINC00393', 'score': 0.25}, {'connected_gene': 'ENSG00000280348', 'score': 0.16}, {'connected_gene': 'KLF12', 'score': 0.05}]
chr13 GH13I073717 73717083 73718001 0.63 [{'connected_gene': 'LINC00393', 'score': 0.22}, {'connected_gene': 'ENSG00000280348', 'score': 0.18}, {'connected_gene': 'KLF12', 'score': 0.05}]
chr13 GH13I073721 73721755 73722633 0.85 [{'connected_gene': 'LINC00393', 'score': 0.21}, {'connected_gene': 'ENSG00000280348', 'score': 0.18}, {'connected_gene': 'KLF12', 'score': 0.05}]
chr13 GH13I074286 74286756 74291232 1.41 [{'connected_gene': 'RNY1P5', 'score': 550.77}, {'connected_gene': 'GC13M074290', 'score': 550.77}, {'connected_gene': 'KLF12', 'score': 8.57}, {'connected_gene': 'GC13M074272', 'score': 0.37}]
chr13 GH13I074190 74190476 74192716 0.49 [{'connected_gene': 'LINC00402', 'score': 10.76}, {'connected_gene': 'KLF12', 'score': 0.34}, {'connected_gene': 'GC13P074217', 'score': 0.31}]
chr13 GH13I074186 74186984 74188486 0.66 [{'connected_gene': 'LINC00402', 'score': 6.03}, {'connected_gene': 'KLF12', 'score': 0.37}, {'connected_gene': 'GC13P074217', 'score': 0.29}]
chr13 GH13I074194 74194642 74195563 0.2 [{'connected_gene': 'LINC00402', 'score': 4.61}, {'connected_gene': 'GC13P074217', 'score': 0.34}, {'connected_gene': 'KLF12', 'score': 0.31}]
chr13 GH13I074199 74199728 74201124 0.2 [{'connected_gene': 'LINC00402', 'score': 11.12}, {'connected_gene': 'GC13P074217', 'score': 0.37}, {'connected_gene': 'KLF12', 'score': 0.29}]
chr13 GH13I074183 74183606 74185092 0.2 [{'connected_gene': 'LINC00402', 'score': 5.36}, {'connected_gene': 'KLF12', 'score': 0.37}, {'connected_gene': 'GC13P074217', 'score': 0.29}]
chr13 GH13I074210 74210118 74212430 1.16 [{'connected_gene': 'LINC00402', 'score': 11.4}, {'connected_gene': 'KLF12', 'score': 5.48}, {'connected_gene': 'GC13P074217', 'score': 0.44}]
chr13 GH13I073848 73848904 73849711 0.56 [{'connected_gene': 'ENSG00000279463', 'score': 0.77}, {'connected_gene': 'GC13M074036', 'score': 0.09}, {'connected_gene': 'KLF12', 'score': 0.06}]
chr13 GH13I073944 73944724 73944873 0.2 [{'connected_gene': 'GC13M074036', 'score': 0.16}, {'connected_gene': 'ENSG00000279463', 'score': 0.15}, {'connected_gene': 'KLF12', 'score': 0.07}]
chr13 GH13I074069 74069704 74070922 0.71 [{'connected_gene': 'GC13M074036', 'score': 0.29}, {'connected_gene': 'GC13M074126', 'score': 0.22}, {'connected_gene': 'KLF12', 'score': 0.15}]
chr13 GH13I073967 73967824 73967973 0.6 [{'connected_gene': 'GC13M074036', 'score': 0.19}, {'connected_gene': 'ENSG00000279463', 'score': 0.13}, {'connected_gene': 'KLF12', 'score': 0.08}]
chr13 GH13I074040 74040324 74040600 1.05 [{'connected_gene': 'GC13M074036', 'score': 550.77}, {'connected_gene': 'GC13M074126', 'score': 0.17}, {'connected_gene': 'KLF12', 'score': 0.13}]
chr13 GH13I074113 74113831 74116354 0.86 [{'connected_gene': 'GC13M074126', 'score': 0.39}, {'connected_gene': 'KLF12', 'score': 0.23}, {'connected_gene': 'GC13M074036', 'score': 0.18}]
chr13 GH13I073914 73914201 73914400 0.43 [{'connected_gene': 'ENSG00000279463', 'score': 0.2}, {'connected_gene': 'GC13M074036', 'score': 0.13}, {'connected_gene': 'KLF12', 'score': 0.07}]
chr13 GH13I074074 74074586 74075366 0.4 [{'connected_gene': 'GC13M074036', 'score': 0.28}, {'connected_gene': 'GC13M074126', 'score': 0.23}, {'connected_gene': 'KLF12', 'score': 0.16}]
chr13 GH13I073857 73857204 73857353 0.2 [{'connected_gene': 'ENSG00000279463', 'score': 0.39}, {'connected_gene': 'GC13M074036', 'score': 0.09}, {'connected_gene': 'KLF12', 'score': 0.06}]
chr13 GH13I074082 74082313 74083454 0.7 [{'connected_gene': 'GC13M074036', 'score': 0.26}, {'connected_gene': 'GC13M074126', 'score': 0.25}, {'connected_gene': 'KLF12', 'score': 0.17}]
chr13 GH13I074021 74021644 74021773 0.2 [{'connected_gene': 'GC13M074036', 'score': 0.37}, {'connected_gene': 'KLF12', 'score': 0.11}, {'connected_gene': 'ENSG00000279463', 'score': 0.1}]
chr13 GH13I073835 73835264 73835433 0.68 [{'connected_gene': 'ENSG00000279463', 'score': 0.44}, {'connected_gene': 'ENSG00000280348', 'score': 0.28}, {'connected_gene': 'KLF12', 'score': 0.06}]
chr13 GH13I073803 73803166 73803419 0.22 [{'connected_gene': 'ENSG00000280348', 'score': 0.77}, {'connected_gene': 'ENSG00000279463', 'score': 0.26}, {'connected_gene': 'KLF12', 'score': 0.05}]
chr13 GH13I073893 73893017 73893395 0.4 [{'connected_gene': 'ENSG00000279463', 'score': 0.25}, {'connected_gene': 'GC13M074036', 'score': 0.11}, {'connected_gene': 'KLF12', 'score': 0.06}]
chr13 GH13I074071 74071690 74072372 0.2 [{'connected_gene': 'GC13M074036', 'score': 0.29}, {'connected_gene': 'GC13M074126', 'score': 0.22}, {'connected_gene': 'KLF12', 'score': 0.15}]
chr13 GH13I074068 74068662 74069108 0.4 [{'connected_gene': 'GC13M074036', 'score': 0.31}, {'connected_gene': 'GC13M074126', 'score': 0.22}, {'connected_gene': 'KLF12', 'score': 0.15}]
chr13 GH13I074090 74090278 74092047 0.4 [{'connected_gene': 'GC13M074126', 'score': 0.28}, {'connected_gene': 'GC13M074036', 'score': 0.23}, {'connected_gene': 'KLF12', 'score': 0.18}]
chr13 GH13I074028 74028793 74030866 0.2 [{'connected_gene': 'GC13M074036', 'score': 0.44}, {'connected_gene': 'KLF12', 'score': 0.12}, {'connected_gene': 'ENSG00000279463', 'score': 0.09}]
chr13 GH13I074077 74077704 74077853 0.4 [{'connected_gene': 'GC13M074036', 'score': 0.28}, {'connected_gene': 'GC13M074126', 'score': 0.23}, {'connected_gene': 'KLF12', 'score': 0.16}]
chr13 GH13I073913 73913204 73913353 0.38 [{'connected_gene': 'ENSG00000279463', 'score': 0.2}, {'connected_gene': 'GC13M074036', 'score': 0.13}, {'connected_gene': 'KLF12', 'score': 0.07}]
chr13 GH13I074104 74104286 74106200 0.31 [{'connected_gene': 'GC13M074126', 'score': 0.34}, {'connected_gene': 'KLF12', 'score': 0.21}, {'connected_gene': 'GC13M074036', 'score': 0.2}]
chr13 GH13I074055 74055749 74056406 0.31 [{'connected_gene': 'GC13M074036', 'score': 0.37}, {'connected_gene': 'GC13M074126', 'score': 0.19}, {'connected_gene': 'KLF12', 'score': 0.14}]
chr13 GH13I074035 74035923 74038116 0.76 [{'connected_gene': 'GC13M074036', 'score': 550.77}, {'connected_gene': 'KLF12', 'score': 0.12}, {'connected_gene': 'ENSG00000279463', 'score': 0.08}]
chr13 GH13I074126 74126343 74127624 0.2 [{'connected_gene': 'GC13M074126', 'score': 550.77}, {'connected_gene': 'KLF12', 'score': 0.26}, {'connected_gene': 'GC13M074036', 'score': 0.17}]
chr13 GH13I074203 74203287 74207600 0.63 [{'connected_gene': 'GC13P074217', 'score': 0.39}, {'connected_gene': 'KLF12', 'score': 0.28}]
chr13 GH13I074092 74092833 74093217 0.4 [{'connected_gene': 'GC13M074126', 'score': 0.29}, {'connected_gene': 'GC13M074036', 'score': 0.23}, {'connected_gene': 'KLF12', 'score': 0.18}]
chr13 GH13I073936 73936124 73936273 0.2 [{'connected_gene': 'ENSG00000279463', 'score': 0.16}, {'connected_gene': 'GC13M074036', 'score': 0.15}, {'connected_gene': 'KLF12', 'score': 0.07}]
chr13 GH13I073952 73952301 73953150 0.2 [{'connected_gene': 'GC13M074036', 'score': 0.17}, {'connected_gene': 'ENSG00000279463', 'score': 0.14}, {'connected_gene': 'KLF12', 'score': 0.08}]
chr13 GH13I073809 73809704 73809833 0.43 [{'connected_gene': 'ENSG00000280348', 'score': 0.44}, {'connected_gene': 'ENSG00000279463', 'score': 0.28}, {'connected_gene': 'KLF12', 'score': 0.05}]
chr13 GH13I073828 73828904 73829337 0.2 [{'connected_gene': 'ENSG00000279463', 'score': 0.37}, {'connected_gene': 'ENSG00000280348', 'score': 0.31}, {'connected_gene': 'KLF12', 'score': 0.05}]
chr13 GH13I074049 74049605 74050444 0.2 [{'connected_gene': 'GC13M074036', 'score': 0.39}, {'connected_gene': 'GC13M074126', 'score': 0.18}, {'connected_gene': 'KLF12', 'score': 0.13}]
chr13 GH13I074100 74100692 74102064 0.38 [{'connected_gene': 'GC13M074126', 'score': 0.31}, {'connected_gene': 'GC13M074036', 'score': 0.21}, {'connected_gene': 'KLF12', 'score': 0.2}]
chr13 GH13I073984 73984780 73985824 0.49 [{'connected_gene': 'GC13M074036', 'score': 0.23}, {'connected_gene': 'ENSG00000279463', 'score': 0.11}, {'connected_gene': 'KLF12', 'score': 0.09}]
chr13 GH13I073754 73754824 73754973 0.54 [{'connected_gene': 'ENSG00000280348', 'score': 0.25}, {'connected_gene': 'LINC00393', 'score': 0.16}, {'connected_gene': 'KLF12', 'score': 0.05}]
chr13 GH13I073740 73740686 73741639 0.2 [{'connected_gene': 'ENSG00000280348', 'score': 0.22}, {'connected_gene': 'LINC00393', 'score': 0.18}, {'connected_gene': 'KLF12', 'score': 0.04}]
chr13 GH13I073782 73782944 73783093 0.46 [{'connected_gene': 'ENSG00000280348', 'score': 0.37}, {'connected_gene': 'LINC00393', 'score': 0.13}, {'connected_gene': 'KLF12', 'score': 0.05}]