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
ENST00000330560 [[25316512, 25316989], [25317755, 25317816], [25317899, 25318070], [25319569, 25319724], [25323690, 25323841], [25325732, 25325929], [25327411, 25327496], [25337428, 25337640], [25340914, 25341002], [25341481, 25341726], [25343274, 25343353], [25344761, 25344850], [25346067, 25346205], [25360888, 25361060], [25364025, 25365436]] [[25317755, 25317816], [25317899, 25318070], [25319569, 25319724], [25323690, 25323841], [25325732, 25325929], [25327411, 25327496], [25337428, 25337640], [25340914, 25341002], [25341481, 25341726], [25343274, 25343353], [25344761, 25344850], [25346067, 25346205], [25360888, 25361060], [25364025, 25365254]]
ENST00000518225 [[25316714, 25316989], [25317899, 25318070], [25319569, 25319587]] None
ENST00000380665 [[25316714, 25316989], [25317755, 25318070], [25319569, 25319724], [25323690, 25323841], [25325732, 25325929], [25327411, 25327496], [25337428, 25337640], [25340914, 25341002], [25341481, 25341726], [25343274, 25343353], [25344761, 25344850], [25346067, 25346205], [25360888, 25361060], [25364025, 25365389]] [[25317883, 25318070], [25319569, 25319724], [25323690, 25323841], [25325732, 25325929], [25327411, 25327496], [25337428, 25337640], [25340914, 25341002], [25341481, 25341726], [25343274, 25343353], [25344761, 25344850], [25346067, 25346205], [25360888, 25361060], [25364025, 25365254]]
ENST00000523454 [[25325786, 25325929], [25327411, 25327496], [25329628, 25329700], [25337428, 25337640], [25340914, 25341002], [25341481, 25341726], [25343274, 25343351]] None
ENST00000521098 [[25337207, 25337229], [25337428, 25337640], [25340914, 25341002], [25341481, 25341726], [25343274, 25343353], [25344761, 25344850], [25346067, 25346205], [25360888, 25361060], [25364025, 25365389]] None
NM_152562 [[25316446, 25316989], [25317755, 25317816], [25317899, 25318070], [25319569, 25319724], [25323690, 25323841], [25325732, 25325929], [25327411, 25327496], [25337428, 25337640], [25340914, 25341002], [25341481, 25341726], [25343274, 25343353], [25344761, 25344850], [25346067, 25346205], [25360888, 25361060], [25364025, 25365433]] [[25317755, 25317816], [25317899, 25318070], [25319569, 25319724], [25323690, 25323841], [25325732, 25325929], [25327411, 25327496], [25337428, 25337640], [25340914, 25341002], [25341481, 25341726], [25343274, 25343353], [25344761, 25344850], [25346067, 25346205], [25360888, 25361060], [25364025, 25365254]]
NM_001317907 [[25316446, 25316989], [25317755, 25317816], [25317899, 25318070], [25319569, 25319724], [25323690, 25323841], [25325732, 25325929], [25327411, 25327496], [25337428, 25337640], [25340914, 25341002], [25341481, 25341726], [25343274, 25343353], [25344761, 25344850], [25346067, 25346205], [25360888, 25361079], [25364025, 25365433]] [[25317755, 25317816], [25317899, 25318070], [25319569, 25319724], [25323690, 25323841], [25325732, 25325929], [25327411, 25327496], [25337428, 25337640], [25340914, 25341002], [25341481, 25341726], [25343274, 25343353], [25344761, 25344850], [25346067, 25346205], [25360888, 25361079], [25364025, 25364071]]
NM_001317906 [[25316446, 25316989], [25317755, 25318070], [25319569, 25319724], [25323690, 25323841], [25325732, 25325929], [25327411, 25327496], [25337428, 25337640], [25340914, 25341002], [25341481, 25341726], [25343274, 25343353], [25344761, 25344850], [25346067, 25346205], [25360888, 25361060], [25364025, 25365433]] [[25317883, 25318070], [25319569, 25319724], [25323690, 25323841], [25325732, 25325929], [25327411, 25327496], [25337428, 25337640], [25340914, 25341002], [25341481, 25341726], [25343274, 25343353], [25344761, 25344850], [25346067, 25346205], [25360888, 25361060], [25364025, 25365254]]
Promoter
Chrom Start End Description
chr8 25316489 25316544 CAGE_peak_3_at_CDCA2_5end
chr8 25316707 25316729 CAGE_peak_2_at_CDCA2_5end
chr8 25316737 25316787 CAGE_peak_1_at_CDCA2_5end
chr8 25337208 25337219 CAGE_peak_5_at_CDCA2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I025236 25236806 25240149 1.48 [{'connected_gene': 'DOCK5', 'score': 37.6}, {'connected_gene': 'KCTD9', 'score': 10.14}, {'connected_gene': 'CDCA2', 'score': 10.13}, {'connected_gene': 'GC08M025303', 'score': 0.2}]
chr8 GH08I025271 25271745 25271954 0.58 [{'connected_gene': 'DOCK5', 'score': 11.52}, {'connected_gene': 'GNRH1', 'score': 10.92}, {'connected_gene': 'CDCA2', 'score': 9.4}, {'connected_gene': 'KCTD9', 'score': 9.4}, {'connected_gene': 'GC08M025303', 'score': 0.29}]
chr8 GH08I025202 25202921 25203975 0.78 [{'connected_gene': 'DOCK5', 'score': 14.9}, {'connected_gene': 'CDCA2', 'score': 9.94}, {'connected_gene': 'KCTD9', 'score': 9.94}, {'connected_gene': 'GC08M025303', 'score': 0.15}]
chr8 GH08I025234 25234602 25235999 0.78 [{'connected_gene': 'DOCK5', 'score': 11.71}, {'connected_gene': 'CDCA2', 'score': 9.8}, {'connected_gene': 'KCTD9', 'score': 9.8}, {'connected_gene': 'GC08M025303', 'score': 0.19}]
chr8 GH08I025247 25247745 25249068 0.66 [{'connected_gene': 'DOCK5', 'score': 11.84}, {'connected_gene': 'CDCA2', 'score': 9.59}, {'connected_gene': 'KCTD9', 'score': 9.59}, {'connected_gene': 'GC08M025303', 'score': 0.22}]
chr8 GH08I025251 25251526 25253286 0.74 [{'connected_gene': 'DOCK5', 'score': 18.72}, {'connected_gene': 'CDCA2', 'score': 9.6}, {'connected_gene': 'KCTD9', 'score': 9.6}, {'connected_gene': 'GC08M025303', 'score': 0.23}]
chr8 GH08I025245 25245683 25247213 0.31 [{'connected_gene': 'DOCK5', 'score': 16.46}, {'connected_gene': 'CDCA2', 'score': 9.74}, {'connected_gene': 'KCTD9', 'score': 9.74}, {'connected_gene': 'GC08M025303', 'score': 0.22}]
chr8 GH08I025235 25234001 25234200 0.51 [{'connected_gene': 'DOCK5', 'score': 11.73}, {'connected_gene': 'CDCA2', 'score': 9.8}, {'connected_gene': 'KCTD9', 'score': 9.8}, {'connected_gene': 'GC08M025303', 'score': 0.19}]
chr8 GH08I025183 25183172 25189913 2.19 [{'connected_gene': 'DOCK5', 'score': 566.18}, {'connected_gene': 'CDCA2', 'score': 10.56}, {'connected_gene': 'KCTD9', 'score': 10.56}, {'connected_gene': 'GC08M025303', 'score': 0.13}]
chr8 GH08I025205 25205585 25205734 1 [{'connected_gene': 'DOCK5', 'score': 12.59}, {'connected_gene': 'CDCA2', 'score': 9.94}, {'connected_gene': 'KCTD9', 'score': 9.94}, {'connected_gene': 'GC08M025303', 'score': 0.15}]
chr8 GH08I025231 25231957 25233825 0.68 [{'connected_gene': 'DOCK5', 'score': 12.47}, {'connected_gene': 'CDCA2', 'score': 10.07}, {'connected_gene': 'KCTD9', 'score': 10.07}, {'connected_gene': 'GC08M025303', 'score': 0.19}]
chr8 GH08I025392 25392423 25393716 0.95 [{'connected_gene': 'KCTD9', 'score': 19.08}, {'connected_gene': 'GNRH1', 'score': 12.63}, {'connected_gene': 'CDCA2', 'score': 10.8}, {'connected_gene': 'PIR37075', 'score': 0.39}, {'connected_gene': 'GC08P025414', 'score': 0.34}, {'connected_gene': 'GC08M025389', 'score': 0.26}, {'connected_gene': 'DOCK5', 'score': 0.08}]
chr8 GH08I025453 25453902 25460574 2.3 [{'connected_gene': 'KCTD9', 'score': 560.82}, {'connected_gene': 'CDCA2', 'score': 550.77}, {'connected_gene': 'GNRH1', 'score': 22.58}, {'connected_gene': 'ENSG00000253476', 'score': 11.5}, {'connected_gene': 'NEFM', 'score': 4.38}, {'connected_gene': 'GC08P025445', 'score': 0.39}]
chr8 GH08I025517 25517440 25519013 0.46 [{'connected_gene': 'KCTD9', 'score': 17.24}, {'connected_gene': 'CDCA2', 'score': 10.08}, {'connected_gene': 'GC08P025504', 'score': 0.39}, {'connected_gene': 'GC08P025588', 'score': 0.19}]
chr8 GH08I025506 25506801 25507800 0.51 [{'connected_gene': 'KCTD9', 'score': 17.16}, {'connected_gene': 'CDCA2', 'score': 10.39}, {'connected_gene': 'GC08P025504', 'score': 0.77}, {'connected_gene': 'GC08P025588', 'score': 0.18}]
chr8 GH08I025478 25478104 25483153 0.95 [{'connected_gene': 'KCTD9', 'score': 21.62}, {'connected_gene': 'CDCA2', 'score': 12.02}, {'connected_gene': 'GC08P025504', 'score': 0.34}]
chr8 GH08I025490 25490619 25490967 0.22 [{'connected_gene': 'KCTD9', 'score': 19.63}, {'connected_gene': 'CDCA2', 'score': 13.61}, {'connected_gene': 'GC08P025504', 'score': 0.39}]
chr8 GH08I025367 25365064 25365951 0.31 [{'connected_gene': 'GNRH1', 'score': 11.29}, {'connected_gene': 'CDCA2', 'score': 10.48}, {'connected_gene': 'KCTD9', 'score': 10.48}, {'connected_gene': 'DOCK5', 'score': 5.56}, {'connected_gene': 'LOC105379331', 'score': 0.77}, {'connected_gene': 'PIR37075', 'score': 0.39}]
chr8 GH08I025370 25370482 25371082 0.31 [{'connected_gene': 'GNRH1', 'score': 11.44}, {'connected_gene': 'CDCA2', 'score': 10.93}, {'connected_gene': 'KCTD9', 'score': 10.93}, {'connected_gene': 'DOCK5', 'score': 6.46}, {'connected_gene': 'PIR37075', 'score': 0.44}, {'connected_gene': 'LOC105379331', 'score': 0.44}]
chr8 GH08I025366 25366934 25367455 0.31 [{'connected_gene': 'GNRH1', 'score': 11.43}, {'connected_gene': 'CDCA2', 'score': 10.92}, {'connected_gene': 'KCTD9', 'score': 10.92}, {'connected_gene': 'DOCK5', 'score': 5.44}, {'connected_gene': 'LOC105379331', 'score': 0.44}, {'connected_gene': 'PIR37075', 'score': 0.39}]
chr8 GH08I025369 25369296 25370379 0.2 [{'connected_gene': 'GNRH1', 'score': 11.43}, {'connected_gene': 'CDCA2', 'score': 10.93}, {'connected_gene': 'KCTD9', 'score': 10.93}, {'connected_gene': 'DOCK5', 'score': 6.39}, {'connected_gene': 'PIR37075', 'score': 0.44}, {'connected_gene': 'LOC105379331', 'score': 0.44}]
chr8 GH08I025368 25367835 25368407 0.63 [{'connected_gene': 'GNRH1', 'score': 16.64}, {'connected_gene': 'CDCA2', 'score': 10.92}, {'connected_gene': 'KCTD9', 'score': 10.92}, {'connected_gene': 'DOCK5', 'score': 4.52}, {'connected_gene': 'LOC105379331', 'score': 0.44}, {'connected_gene': 'PIR37075', 'score': 0.39}]
chr8 GH08I025318 25318100 25321049 1.23 [{'connected_gene': 'GNRH1', 'score': 11.24}, {'connected_gene': 'CDCA2', 'score': 10.37}, {'connected_gene': 'KCTD9', 'score': 10.37}, {'connected_gene': 'GC08M025315', 'score': 0.77}, {'connected_gene': 'GC08M025303', 'score': 0.39}, {'connected_gene': 'DOCK5', 'score': 0.12}]
chr8 GH08I025390 25390941 25391655 0.31 [{'connected_gene': 'GNRH1', 'score': 12.63}, {'connected_gene': 'CDCA2', 'score': 10.8}, {'connected_gene': 'KCTD9', 'score': 10.8}, {'connected_gene': 'NEFM', 'score': 4.35}, {'connected_gene': 'PIR37075', 'score': 0.39}, {'connected_gene': 'GC08P025414', 'score': 0.34}, {'connected_gene': 'GC08M025389', 'score': 0.26}, {'connected_gene': 'DOCK5', 'score': 0.08}]
chr8 GH08I025365 25365981 25366562 0.49 [{'connected_gene': 'GNRH1', 'score': 11.29}, {'connected_gene': 'CDCA2', 'score': 10.48}, {'connected_gene': 'KCTD9', 'score': 10.48}, {'connected_gene': 'LOC105379331', 'score': 0.77}, {'connected_gene': 'PIR37075', 'score': 0.39}, {'connected_gene': 'DOCK5', 'score': 0.09}]
chr8 GH08I025328 25328625 25328774 0.58 [{'connected_gene': 'GNRH1', 'score': 11.53}, {'connected_gene': 'CDCA2', 'score': 10.18}, {'connected_gene': 'KCTD9', 'score': 10.18}, {'connected_gene': 'GC08M025315', 'score': 0.44}, {'connected_gene': 'MIR6876', 'score': 0.37}, {'connected_gene': 'DOCK5', 'score': 0.11}]
chr8 GH08I025329 25328305 25328454 0.4 [{'connected_gene': 'GNRH1', 'score': 11.53}, {'connected_gene': 'CDCA2', 'score': 10.17}, {'connected_gene': 'KCTD9', 'score': 10.17}, {'connected_gene': 'GC08M025315', 'score': 0.44}, {'connected_gene': 'MIR6876', 'score': 0.37}, {'connected_gene': 'DOCK5', 'score': 0.11}]
chr8 GH08I025461 25461401 25461600 0.2 [{'connected_gene': 'GNRH1', 'score': 10.16}, {'connected_gene': 'CDCA2', 'score': 0.77}, {'connected_gene': 'GC08P025445', 'score': 0.37}, {'connected_gene': 'GC08P025504', 'score': 0.26}]
chr8 GH08I025363 25363614 25364099 0.31 [{'connected_gene': 'CDCA2', 'score': 10.36}, {'connected_gene': 'KCTD9', 'score': 10.36}, {'connected_gene': 'DOCK5', 'score': 4.79}, {'connected_gene': 'LOC105379331', 'score': 0.77}, {'connected_gene': 'PIR37075', 'score': 0.39}]
chr8 GH08I025170 25170001 25170649 1.06 [{'connected_gene': 'CDCA2', 'score': 10.77}, {'connected_gene': 'KCTD9', 'score': 10.77}, {'connected_gene': 'DOCK5', 'score': 8.99}, {'connected_gene': 'GC08M025181', 'score': 0.39}, {'connected_gene': 'LOC100421161', 'score': 0.31}]
chr8 GH08I025174 25174152 25176824 1 [{'connected_gene': 'CDCA2', 'score': 10.21}, {'connected_gene': 'KCTD9', 'score': 10.21}, {'connected_gene': 'GC08M025181', 'score': 0.44}, {'connected_gene': 'LOC100421161', 'score': 0.29}]
chr8 GH08I025514 25514837 25516474 0.52 [{'connected_gene': 'CDCA2', 'score': 10.08}, {'connected_gene': 'KCTD9', 'score': 10.08}, {'connected_gene': 'GC08P025504', 'score': 0.39}, {'connected_gene': 'GC08P025588', 'score': 0.19}]
chr8 GH08I025508 25508792 25509389 0.72 [{'connected_gene': 'CDCA2', 'score': 10.38}, {'connected_gene': 'KCTD9', 'score': 10.38}, {'connected_gene': 'GC08P025504', 'score': 0.77}, {'connected_gene': 'GC08P025588', 'score': 0.18}]
chr8 GH08I025475 25475765 25475914 0.46 [{'connected_gene': 'CDCA2', 'score': 0.37}, {'connected_gene': 'GC08P025504', 'score': 0.31}]
chr8 GH08I025362 25362657 25363554 0.31 [{'connected_gene': 'LOC105379331', 'score': 550.77}, {'connected_gene': 'CDCA2', 'score': 10.35}, {'connected_gene': 'KCTD9', 'score': 10.35}, {'connected_gene': 'PIR37075', 'score': 0.37}, {'connected_gene': 'DOCK5', 'score': 0.1}]
chr8 GH08I025361 25361463 25362510 0.2 [{'connected_gene': 'LOC105379331', 'score': 550.77}, {'connected_gene': 'CDCA2', 'score': 10.35}, {'connected_gene': 'KCTD9', 'score': 10.35}, {'connected_gene': 'PIR37075', 'score': 0.37}, {'connected_gene': 'DOCK5', 'score': 0.1}]
chr8 GH08I025360 25360813 25361423 0.2 [{'connected_gene': 'LOC105379331', 'score': 550.77}, {'connected_gene': 'CDCA2', 'score': 10.35}, {'connected_gene': 'KCTD9', 'score': 10.35}, {'connected_gene': 'GC08M025333', 'score': 0.44}, {'connected_gene': 'DOCK5', 'score': 0.1}]
chr8 GH08I025358 25358806 25360784 0.31 [{'connected_gene': 'LOC105379331', 'score': 550.77}, {'connected_gene': 'CDCA2', 'score': 10.35}, {'connected_gene': 'KCTD9', 'score': 10.35}, {'connected_gene': 'GC08M025333', 'score': 0.44}, {'connected_gene': 'DOCK5', 'score': 0.1}]
chr8 GH08I025427 25427137 25427230 0.59 [{'connected_gene': 'ENSG00000253476', 'score': 550.77}, {'connected_gene': 'CDCA2', 'score': 10.83}, {'connected_gene': 'KCTD9', 'score': 10.83}, {'connected_gene': 'GC08M025389', 'score': 0.44}]
chr8 GH08I025509 25509945 25510094 0.54 [{'connected_gene': 'GC08P025504', 'score': 0.44}, {'connected_gene': 'CDCA2', 'score': 0.23}, {'connected_gene': 'GC08P025588', 'score': 0.18}]