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
ENST00000559883 [[49447852, 49448213], [49453960, 49454058], [49493358, 49493447], [49509386, 49509510], [49528047, 49528138], [49531417, 49531564], [49574183, 49574264]] [[49448193, 49448213], [49453960, 49454058], [49493358, 49493366]]
ENST00000327171 [[49447961, 49448213], [49493358, 49493447], [49509386, 49509510], [49528047, 49528138], [49531417, 49531564], [49574183, 49574282], [49575762, 49575915], [49584523, 49584734], [49611800, 49612002], [49620148, 49622002]] [[49448193, 49448213], [49493358, 49493447], [49509386, 49509510], [49528047, 49528138], [49531417, 49531564], [49574183, 49574282], [49575762, 49575915], [49584523, 49584734], [49611800, 49612002], [49620148, 49620356]]
ENST00000560031 [[49462212, 49462572], [49493358, 49493447], [49509386, 49509510], [49528047, 49528138], [49531417, 49531564], [49574183, 49574282], [49575762, 49575915], [49584523, 49584734], [49611800, 49612002], [49620148, 49620715]] [[49462519, 49462572], [49493358, 49493447], [49509386, 49509510], [49528047, 49528138], [49531417, 49531564], [49574183, 49574282], [49575762, 49575915], [49584523, 49584734], [49611800, 49612002], [49620148, 49620356]]
ENST00000396509 [[49462400, 49462555], [49493358, 49493447], [49509386, 49509510], [49528047, 49528138], [49531417, 49531564], [49574183, 49574282], [49575762, 49575915], [49584523, 49584734], [49611800, 49612002], [49620148, 49620711]] [[49493377, 49493447], [49509386, 49509510], [49528047, 49528138], [49531417, 49531564], [49574183, 49574282], [49575762, 49575915], [49584523, 49584734], [49611800, 49612002], [49620148, 49620356]]
ENST00000559208 [[49462420, 49462572], [49493358, 49493447], [49509386, 49509510], [49517401, 49517546], [49528047, 49528138], [49531417, 49531564], [49574183, 49574282], [49575762, 49575776]] [[49462519, 49462572], [49493358, 49493447], [49509386, 49509510], [49517401, 49517441]]
ENST00000560119 [[49462456, 49462555], [49493358, 49493447], [49509386, 49509510], [49527821, 49527936], [49528047, 49528138], [49531417, 49531564], [49574183, 49574282], [49575762, 49575915], [49584523, 49584734], [49611168, 49611313], [49611800, 49612002], [49620148, 49620726]] [[49493377, 49493447], [49509386, 49509510], [49527821, 49527828]]
ENST00000543495 [[49462456, 49462555], [49493358, 49493447], [49509386, 49509510], [49527821, 49527936], [49528047, 49528138], [49531417, 49531564], [49574183, 49574282], [49575762, 49575915], [49584523, 49584734], [49611168, 49611313], [49611800, 49612002], [49620148, 49620726]] [[49531447, 49531564], [49574183, 49574282], [49575762, 49575915], [49584523, 49584734], [49611168, 49611212]]
ENST00000544523 [[49462478, 49462572], [49487281, 49487411], [49493358, 49493447], [49509386, 49509510], [49528047, 49528138], [49531417, 49531564], [49574183, 49574282], [49575762, 49575915], [49584523, 49584734], [49611800, 49612002], [49620148, 49620758]] [[49493377, 49493447], [49509386, 49509510], [49528047, 49528138], [49531417, 49531564], [49574183, 49574282], [49575762, 49575915], [49584523, 49584734], [49611800, 49612002], [49620148, 49620356]]
ENST00000560138 [[49462479, 49462555], [49493358, 49493447], [49509386, 49509510], [49528047, 49528138], [49531417, 49531564], [49575762, 49575915], [49584577, 49584619]] [[49493377, 49493447], [49509386, 49509510], [49528047, 49528138], [49531417, 49531564], [49575762, 49575915], [49584577, 49584619]]
ENST00000559423 [[49462508, 49462555], [49493358, 49493447], [49509386, 49509510], [49517401, 49517546], [49528047, 49528138], [49531417, 49531564], [49574183, 49574282], [49575762, 49575915]] [[49493377, 49493447], [49509386, 49509510], [49517401, 49517441]]
ENST00000559454 [[49462674, 49462774], [49493358, 49493447], [49509386, 49509510], [49528047, 49528138], [49531417, 49531564], [49574183, 49574282], [49575762, 49575915], [49584523, 49584734], [49611800, 49612002], [49620148, 49620700]] [[49493377, 49493447], [49509386, 49509510], [49528047, 49528138], [49531417, 49531564], [49574183, 49574282], [49575762, 49575915], [49584523, 49584734], [49611800, 49612002], [49620148, 49620356]]
ENST00000561014 [[49531416, 49531564], [49574183, 49574282], [49575762, 49575915], [49584523, 49584734], [49610307, 49610389], [49611800, 49611904]] None
ENST00000559963 [[49447955, 49448213], [49453936, 49454058], [49493358, 49493447], [49509386, 49509510], [49528047, 49528138], [49531417, 49531527]] [[49448193, 49448213], [49453936, 49454058], [49493358, 49493366]]
ENST00000560654 [[49447967, 49448213], [49451041, 49451165], [49493358, 49493447], [49509386, 49509510], [49528047, 49528138], [49531417, 49531527]] [[49493377, 49493447], [49509386, 49509510], [49528047, 49528138], [49531417, 49531527]]
ENST00000558775 [[49447971, 49448213], [49453936, 49454058], [49493358, 49493447], [49509369, 49509510], [49528047, 49528138], [49531417, 49531545]] [[49448193, 49448213], [49453936, 49454058], [49493358, 49493366]]
ENST00000561074 [[49447990, 49448213], [49487281, 49487411], [49493358, 49493447], [49509386, 49509494]] [[49448193, 49448213], [49487281, 49487399]]
ENST00000559040 [[49447997, 49448213], [49493358, 49493447], [49509386, 49509510], [49515325, 49515346], [49518871, 49518892]] None
ENST00000558956 [[49462413, 49462555], [49493358, 49493447], [49509386, 49509510], [49517401, 49517546], [49528047, 49528138], [49531417, 49531467]] [[49493377, 49493447], [49509386, 49509510], [49517401, 49517441]]
ENST00000559095 [[49462445, 49462572], [49486107, 49486407]] None
ENST00000558145 [[49462456, 49462572], [49477810, 49477871], [49487281, 49487411], [49493358, 49493447], [49509386, 49509510], [49528047, 49528094]] [[49493377, 49493447], [49509386, 49509510], [49528047, 49528094]]
ENST00000558399 [[49575902, 49575915], [49584523, 49584734], [49611800, 49612002], [49659687, 49660066]] [[49575902, 49575915], [49584523, 49584734], [49611800, 49612002], [49659687, 49659733]]
ENST00000559580 [[49584667, 49584734], [49611800, 49612002], [49620148, 49620327], [49659687, 49659894]] [[49584667, 49584734], [49611800, 49612002], [49620148, 49620327], [49659687, 49659728]]
ENST00000560528 [[49611878, 49612002], [49620148, 49620327], [49620862, 49621179]] [[49611878, 49612002], [49620148, 49620327], [49620862, 49620891]]
NM_001001556 [[49447955, 49448213], [49493358, 49493447], [49509386, 49509510], [49528047, 49528138], [49531417, 49531564], [49574183, 49574282], [49575762, 49575915], [49584523, 49584734], [49611800, 49612002], [49620148, 49622002]] [[49448193, 49448213], [49493358, 49493447], [49509386, 49509510], [49528047, 49528138], [49531417, 49531564], [49574183, 49574282], [49575762, 49575915], [49584523, 49584734], [49611800, 49612002], [49620148, 49620356]]
NM_001289031 [[49462212, 49462555], [49493358, 49493447], [49509386, 49509510], [49528047, 49528138], [49531417, 49531564], [49574183, 49574282], [49575762, 49575915], [49584523, 49584734], [49611800, 49612002], [49620148, 49622002]] [[49493377, 49493447], [49509386, 49509510], [49528047, 49528138], [49531417, 49531564], [49574183, 49574282], [49575762, 49575915], [49584523, 49584734], [49611800, 49612002], [49620148, 49620356]]
NM_002044 [[49462212, 49462572], [49493358, 49493447], [49509386, 49509510], [49528047, 49528138], [49531417, 49531564], [49574183, 49574282], [49575762, 49575915], [49584523, 49584734], [49611800, 49612002], [49620148, 49622002]] [[49462519, 49462572], [49493358, 49493447], [49509386, 49509510], [49528047, 49528138], [49531417, 49531564], [49574183, 49574282], [49575762, 49575915], [49584523, 49584734], [49611800, 49612002], [49620148, 49620356]]
NM_001289030 [[49462212, 49462572], [49487281, 49487411], [49493358, 49493447], [49509386, 49509510], [49528047, 49528138], [49531417, 49531564], [49574183, 49574282], [49575762, 49575915], [49584523, 49584734], [49611800, 49612002], [49620148, 49622002]] [[49493377, 49493447], [49509386, 49509510], [49528047, 49528138], [49531417, 49531564], [49574183, 49574282], [49575762, 49575915], [49584523, 49584734], [49611800, 49612002], [49620148, 49620356]]
Promoter
Chrom Start End Description
chr15 49447947 49448036 CAGE_peak_1_at_GALK2_5end
chr15 49462397 49462430 CAGE_peak_3_at_GALK2_5end
chr15 49462434 49462488 CAGE_peak_2_at_GALK2_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 GH15I049242 49242118 49243771 0.64 [{'connected_gene': 'SECISBP2L', 'score': 10.34}, {'connected_gene': 'FAM227B', 'score': 5.63}, {'connected_gene': 'PIR52968', 'score': 0.44}, {'connected_gene': 'GC15P049181', 'score': 0.21}, {'connected_gene': 'GALK2', 'score': 0.17}, {'connected_gene': 'ENSG00000275580', 'score': 0.15}]
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 GH15I049195 49195824 49196028 0.41 [{'connected_gene': 'GALK2', 'score': 12.02}, {'connected_gene': 'COPS2', 'score': 12.02}, {'connected_gene': 'RN7SL307P', 'score': 0.77}, {'connected_gene': 'GC15P049181', 'score': 0.39}]
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 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 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 GH15I049281 49281959 49283634 0.31 [{'connected_gene': 'FAM227B', 'score': 4.68}, {'connected_gene': 'PIR52968', 'score': 0.25}, {'connected_gene': 'ENSG00000275580', 'score': 0.21}, {'connected_gene': 'GC15P049181', 'score': 0.15}, {'connected_gene': 'GALK2', 'score': 0.13}]
chr15 GH15I049289 49289785 49291223 0.31 [{'connected_gene': 'FAM227B', 'score': 5.65}, {'connected_gene': 'PIR52968', 'score': 0.23}, {'connected_gene': 'ENSG00000275580', 'score': 0.23}, {'connected_gene': 'GC15P049181', 'score': 0.14}, {'connected_gene': 'GALK2', 'score': 0.12}]
chr15 GH15I049216 49216504 49216653 0.56 [{'connected_gene': 'RN7SL307P', 'score': 0.37}, {'connected_gene': 'PIR52968', 'score': 0.37}, {'connected_gene': 'GC15P049181', 'score': 0.28}, {'connected_gene': 'GALK2', 'score': 0.21}]
chr15 GH15I049328 49328644 49329581 0.43 [{'connected_gene': 'LOC100420615', 'score': 10.25}, {'connected_gene': 'GALK2', 'score': 5.16}, {'connected_gene': 'ENSG00000275580', 'score': 0.39}, {'connected_gene': 'PIR52968', 'score': 0.16}, {'connected_gene': 'GC15P049181', 'score': 0.11}, {'connected_gene': 'FAM227B', '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 GH15I049234 49234956 49236333 0.82 [{'connected_gene': 'PIR52968', 'score': 550.77}, {'connected_gene': 'SECISBP2L', 'score': 10.34}, {'connected_gene': 'FAM227B', 'score': 5.1}, {'connected_gene': 'RN7SL307P', 'score': 0.28}, {'connected_gene': 'GC15P049181', 'score': 0.23}, {'connected_gene': 'GALK2', 'score': 0.18}]
chr15 GH15I049313 49313370 49314030 0.62 [{'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 GH15I049225 49225601 49226000 0.89 [{'connected_gene': 'PIR52968', 'score': 0.39}, {'connected_gene': 'RN7SL307P', 'score': 0.31}, {'connected_gene': 'GC15P049181', 'score': 0.26}, {'connected_gene': 'GALK2', 'score': 0.19}]
chr15 GH15I049226 49226024 49226173 0.63 [{'connected_gene': 'PIR52968', 'score': 0.44}, {'connected_gene': 'RN7SL307P', 'score': 0.31}, {'connected_gene': 'GC15P049181', 'score': 0.25}, {'connected_gene': 'GALK2', 'score': 0.19}]

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