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
ENST00000267843 [[49715292, 49715637], [49716228, 49716780], [49775347, 49775451], [49776506, 49780972]] [[49716494, 49716780], [49775347, 49775451], [49776506, 49776701]]
ENST00000560270 [[49715433, 49715637], [49716228, 49717712]] [[49716494, 49716788]]
ENST00000560765 [[49715454, 49715637], [49716228, 49716780], [49775347, 49775451], [49776506, 49776756]] [[49716494, 49716780], [49775347, 49775451], [49776506, 49776701]]
ENST00000560979 [[49715456, 49715637], [49716637, 49716780], [49775347, 49775451], [49776506, 49776657]] [[49716668, 49716780], [49775347, 49775451], [49776506, 49776657]]
ENST00000560704 [[49726592, 49726850], [49775347, 49775451], [49776506, 49776717]] None
NM_002009 [[49715374, 49715637], [49716228, 49716780], [49775347, 49775451], [49776506, 49779523]] [[49716494, 49716780], [49775347, 49775451], [49776506, 49776701]]
Promoter
Chrom Start End Description
chr15 49715431 49715448 CAGE_peak_2_at_FGF7_5end
chr15 49715449 49715464 CAGE_peak_1_at_FGF7_5end
chr15 49716212 49716244 CAGE_peak_7_at_FGF7_5end
chr15 49716289 49716340 CAGE_peak_6_at_FGF7_5end
chr15 49716369 49716378 CAGE_peak_14_at_FGF7_5end
chr15 49716443 49716472 CAGE_peak_5_at_FGF7_5end
chr15 49716475 49716504 CAGE_peak_4_at_FGF7_5end
chr15 49716561 49716579 CAGE_peak_9_at_FGF7_5end
chr15 49716599 49716621 CAGE_peak_11_at_FGF7_5end
chr15 49716638 49716654 CAGE_peak_8_at_FGF7_5end
chr15 49716675 49716698 CAGE_peak_10_at_FGF7_5end
chr15 49716703 49716720 CAGE_peak_3_at_FGF7_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I049270 49270644 49271972 0.31 [{'connected_gene': 'SECISBP2L', 'score': 10.42}, {'connected_gene': 'GALK2', 'score': 6.57}, {'connected_gene': 'FGF7', 'score': 6.27}, {'connected_gene': 'FAM227B', 'score': 4.67}, {'connected_gene': 'PIR52968', 'score': 0.28}, {'connected_gene': 'ENSG00000275580', 'score': 0.19}, {'connected_gene': 'GC15P049181', 'score': 0.16}]
chr15 GH15I049315 49315375 49316313 0.31 [{'connected_gene': 'SECISBP2L', 'score': 10.4}, {'connected_gene': 'FGF7', 'score': 6.32}, {'connected_gene': 'ENSG00000275580', 'score': 0.31}, {'connected_gene': 'PIR52968', 'score': 0.18}, {'connected_gene': 'GC15P049181', 'score': 0.12}, {'connected_gene': 'GALK2', 'score': 0.1}]
chr15 GH15I049445 49445815 49450922 0.31 [{'connected_gene': 'SECISBP2L', 'score': 8.68}, {'connected_gene': 'FGF7', 'score': 8.49}, {'connected_gene': 'FAM227B', 'score': 7.42}, {'connected_gene': 'GALK2', 'score': 4.2}, {'connected_gene': 'LOC105370811', 'score': 0.26}]
chr15 GH15I049237 49237984 49239489 0.49 [{'connected_gene': 'SECISBP2L', 'score': 10.42}, {'connected_gene': 'FGF7', 'score': 6.02}, {'connected_gene': 'FAM227B', 'score': 5.62}, {'connected_gene': 'GALK2', 'score': 5.1}, {'connected_gene': 'PIR52968', 'score': 0.77}, {'connected_gene': 'GC15P049181', 'score': 0.22}, {'connected_gene': 'ENSG00000275580', 'score': 0.15}]
chr15 GH15I049455 49455605 49457202 0.31 [{'connected_gene': 'SECISBP2L', 'score': 10.03}, {'connected_gene': 'FAM227B', 'score': 7.2}, {'connected_gene': 'GALK2', 'score': 4.08}, {'connected_gene': 'FGF7', 'score': 0.29}, {'connected_gene': 'LOC105370811', 'score': 0.29}]
chr15 GH15I049154 49154135 49157201 2.09 [{'connected_gene': 'COPS2', 'score': 574.11}, {'connected_gene': 'NDUFAF4P1', 'score': 550.77}, {'connected_gene': 'GALK2', 'score': 550.77}, {'connected_gene': 'DTWD1', 'score': 38.03}, {'connected_gene': 'DUT', 'score': 22.44}, {'connected_gene': 'ENSG00000259488', 'score': 13.69}, {'connected_gene': 'CEP152', 'score': 13.04}, {'connected_gene': 'FGF7', 'score': 10.96}, {'connected_gene': 'SECISBP2L', 'score': 10.74}, {'connected_gene': 'FAM227B', 'score': 5.64}]
chr15 GH15I049854 49854986 49857766 1.17 [{'connected_gene': 'DTWD1', 'score': 8.45}, {'connected_gene': 'FGF7', 'score': 7.44}, {'connected_gene': 'ATP8B4', 'score': 4.65}, {'connected_gene': 'LOC102724587', 'score': 0.34}, {'connected_gene': 'RLIMP3', 'score': 0.21}]
chr15 GH15I049859 49859515 49860591 0.51 [{'connected_gene': 'DTWD1', 'score': 7.44}, {'connected_gene': 'FGF7', 'score': 4.63}, {'connected_gene': 'LOC102724587', 'score': 0.37}, {'connected_gene': 'RLIMP3', 'score': 0.2}, {'connected_gene': 'ATP8B4', 'score': 0.05}]
chr15 GH15I049846 49846245 49849308 1.39 [{'connected_gene': 'DTWD1', 'score': 19.56}, {'connected_gene': 'FAM227B', 'score': 10.57}, {'connected_gene': 'FGF7', 'score': 7.67}, {'connected_gene': 'ATP8B4', 'score': 7.07}, {'connected_gene': 'LOC102724587', 'score': 5.23}, {'connected_gene': 'RLIMP3', 'score': 0.23}]
chr15 GH15I049462 49462333 49462805 0.4 [{'connected_gene': 'DTWD1', 'score': 15.84}, {'connected_gene': 'FAM227B', 'score': 10.49}, {'connected_gene': 'LOC105370811', 'score': 0.31}, {'connected_gene': 'FGF7', 'score': 0.28}]
chr15 GH15I049831 49831168 49832873 1.09 [{'connected_gene': 'DTWD1', 'score': 18.6}, {'connected_gene': 'FAM227B', 'score': 10.79}, {'connected_gene': 'LOC102724587', 'score': 9.33}, {'connected_gene': 'FGF7', 'score': 6.88}, {'connected_gene': 'RLIMP3', 'score': 0.28}]
chr15 GH15I049471 49471658 49472535 0.68 [{'connected_gene': 'DTWD1', 'score': 5.47}, {'connected_gene': 'LOC105370811', 'score': 0.37}, {'connected_gene': 'FGF7', 'score': 0.25}, {'connected_gene': 'FAM227B', 'score': 0.11}]
chr15 GH15I049169 49169217 49172656 2.05 [{'connected_gene': 'GALK2', 'score': 556.97}, {'connected_gene': 'MIR4716', 'score': 550.77}, {'connected_gene': 'SECISBP2L', 'score': 10.72}, {'connected_gene': 'FGF7', 'score': 6.23}, {'connected_gene': 'FAM227B', 'score': 5.55}, {'connected_gene': 'RPL15P19', 'score': 0.44}]
chr15 GH15I048975 48975325 48977005 1.32 [{'connected_gene': 'FGF7', 'score': 4.43}, {'connected_gene': 'KRT8P24', 'score': 0.77}, {'connected_gene': 'GC15P048991', 'score': 0.37}]
chr15 GH15I049421 49421945 49426600 2.16 [{'connected_gene': 'FGF7', 'score': 569.04}, {'connected_gene': 'DTWD1', 'score': 16.6}, {'connected_gene': 'COPS2', 'score': 14.16}, {'connected_gene': 'ENSG00000259715', 'score': 12.41}, {'connected_gene': 'SECISBP2L', 'score': 10.34}, {'connected_gene': 'GALK2', 'score': 4.23}, {'connected_gene': 'LOC105370811', 'score': 0.2}, {'connected_gene': 'FAM227B', 'score': 0.08}]
chr15 GH15I049152 49152890 49153296 0.31 [{'connected_gene': 'FGF7', 'score': 6.22}, {'connected_gene': 'GALK2', 'score': 0.77}, {'connected_gene': 'COPS2', 'score': 0.77}, {'connected_gene': 'GC15M049139', 'score': 0.37}, {'connected_gene': 'ENSG00000200120', 'score': 0.37}]
chr15 GH15I049146 49146104 49146293 0.59 [{'connected_gene': 'FGF7', 'score': 5.96}, {'connected_gene': 'FAM227B', 'score': 4.26}, {'connected_gene': 'GC15M049139', 'score': 0.44}, {'connected_gene': 'GALK2', 'score': 0.44}, {'connected_gene': 'ENSG00000200120', 'score': 0.44}, {'connected_gene': 'COPS2', 'score': 0.44}]
chr15 GH15I049410 49410764 49410913 0.2 [{'connected_gene': 'FGF7', 'score': 0.39}, {'connected_gene': 'LOC100420615', 'score': 0.26}, {'connected_gene': 'FAM227B', 'score': 0.08}]
chr15 GH15I049412 49412583 49413444 0.38 [{'connected_gene': 'FGF7', 'score': 0.39}, {'connected_gene': 'LOC100420615', 'score': 0.25}, {'connected_gene': 'FAM227B', 'score': 0.08}]
chr15 GH15I049383 49383424 49383553 0.56 [{'connected_gene': 'FGF7', 'score': 6.03}, {'connected_gene': 'LOC100420615', 'score': 0.37}, {'connected_gene': 'FAM227B', 'score': 0.07}]
chr15 GH15I049415 49415724 49415913 0.52 [{'connected_gene': 'FGF7', 'score': 0.44}, {'connected_gene': 'LOC100420615', 'score': 0.25}, {'connected_gene': 'FAM227B', 'score': 0.08}]
chr15 GH15I049443 49443219 49444979 0.2 [{'connected_gene': 'FAM227B', 'score': 18.59}, {'connected_gene': 'DTWD1', 'score': 10.1}, {'connected_gene': 'SECISBP2L', 'score': 9.96}, {'connected_gene': 'GALK2', 'score': 4.92}, {'connected_gene': 'FGF7', 'score': 0.34}, {'connected_gene': 'LOC105370811', 'score': 0.25}]
chr15 GH15I049458 49458700 49461694 0.31 [{'connected_gene': 'FAM227B', 'score': 21.56}, {'connected_gene': 'DTWD1', 'score': 15.84}, {'connected_gene': 'SECISBP2L', 'score': 8.51}, {'connected_gene': 'LOC105370811', 'score': 0.31}, {'connected_gene': 'FGF7', 'score': 0.28}]
chr15 GH15I049435 49435344 49435493 0.69 [{'connected_gene': 'FAM227B', 'score': 10.49}, {'connected_gene': 'DTWD1', 'score': 10.49}, {'connected_gene': 'FGF7', 'score': 0.39}, {'connected_gene': 'LOC105370811', 'score': 0.23}]
chr15 GH15I049439 49439001 49439799 0.79 [{'connected_gene': 'FAM227B', 'score': 10.08}, {'connected_gene': 'DTWD1', 'score': 10.08}, {'connected_gene': 'FGF7', 'score': 0.37}, {'connected_gene': 'LOC105370811', 'score': 0.23}]
chr15 GH15I049618 49618912 49625030 2.13 [{'connected_gene': 'FAM227B', 'score': 561.31}, {'connected_gene': 'DTWD1', 'score': 560.9}, {'connected_gene': 'GABPB1-AS1', 'score': 19.53}, {'connected_gene': 'CEP152', 'score': 12.33}, {'connected_gene': 'ENSG00000259298', 'score': 11.23}, {'connected_gene': 'ENSG00000259618', 'score': 10.96}, {'connected_gene': 'USP8', 'score': 10.95}, {'connected_gene': 'FGF7', 'score': 10.21}, {'connected_gene': 'ENSG00000259715', 'score': 9.76}, {'connected_gene': 'GC15P049652', 'score': 0.29}]
chr15 GH15I049674 49674181 49675793 0.95 [{'connected_gene': 'FAM227B', 'score': 9.16}, {'connected_gene': 'FGF7', 'score': 4.08}, {'connected_gene': 'DTWD1', 'score': 2.81}, {'connected_gene': 'GC15P049692', 'score': 0.37}, {'connected_gene': 'GC15P049652', 'score': 0.34}]
chr15 GH15I049428 49428201 49429178 1.03 [{'connected_gene': 'FAM227B', 'score': 6.92}, {'connected_gene': 'FGF7', 'score': 0.44}, {'connected_gene': 'LOC105370811', 'score': 0.21}]
chr15 GH15I049468 49468514 49468997 0.87 [{'connected_gene': 'LOC105370811', 'score': 0.34}, {'connected_gene': 'FGF7', 'score': 0.25}, {'connected_gene': 'FAM227B', 'score': 0.1}]
chr15 GH15I049467 49466601 49467200 0.4 [{'connected_gene': 'LOC105370811', 'score': 0.34}, {'connected_gene': 'FGF7', 'score': 0.26}, {'connected_gene': 'FAM227B', 'score': 0.1}]
chr15 GH15I049466 49466201 49466400 0.4 [{'connected_gene': 'LOC105370811', 'score': 0.34}, {'connected_gene': 'FGF7', 'score': 0.26}, {'connected_gene': 'FAM227B', 'score': 0.1}]
chr15 GH15I049812 49812917 49814696 0.38 [{'connected_gene': 'LOC102724587', 'score': 9.31}, {'connected_gene': 'DTWD1', 'score': 7.9}, {'connected_gene': 'FGF7', 'score': 4.59}, {'connected_gene': 'RLIMP3', 'score': 0.37}]
chr15 GH15I049815 49815548 49816884 0.9 [{'connected_gene': 'LOC102724587', 'score': 9.31}, {'connected_gene': 'FGF7', 'score': 4.54}, {'connected_gene': 'RLIMP3', 'score': 0.34}]
chr15 GH15I049876 49876168 49879328 1.24 [{'connected_gene': 'LOC102724587', 'score': 560.99}, {'connected_gene': 'FGF7', 'score': 10.52}, {'connected_gene': 'DTWD1', 'score': 8.97}, {'connected_gene': 'GC15P049911', 'score': 0.29}, {'connected_gene': 'ATP8B4', 'score': 0.06}]
chr15 GH15I049862 49862834 49865655 0.89 [{'connected_gene': 'LOC102724587', 'score': 9.63}, {'connected_gene': 'FGF7', 'score': 6.56}, {'connected_gene': 'DTWD1', 'score': 6.35}, {'connected_gene': 'RLIMP3', 'score': 0.19}, {'connected_gene': 'ATP8B4', 'score': 0.06}]
chr15 GH15I049133 49133973 49139176 0.86 [{'connected_gene': 'GC15M049139', 'score': 550.77}, {'connected_gene': 'ENSG00000200120', 'score': 550.77}, {'connected_gene': 'SECISBP2L', 'score': 10.77}, {'connected_gene': 'SHC4', 'score': 10.61}, {'connected_gene': 'FGF7', 'score': 6.26}, {'connected_gene': 'GALK2', 'score': 5.29}, {'connected_gene': 'FAM227B', 'score': 4.79}, {'connected_gene': 'COPS2', 'score': 0.37}, {'connected_gene': 'GC15M049107', 'score': 0.31}]
chr15 GH15I049734 49734244 49735570 0.52 [{'connected_gene': 'GC15P049734', 'score': 550.77}, {'connected_gene': 'FGF7', 'score': 5.7}, {'connected_gene': 'FAM227B', 'score': 4.42}, {'connected_gene': 'LOC100420615', 'score': 4.34}, {'connected_gene': 'ATP8B4', 'score': 3.93}, {'connected_gene': 'RLIMP3', 'score': 0.22}]