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
ENST00000570803 [[78075354, 78075424], [78078353, 78078931], [78079547, 78079693], [78081355, 78081517]] [[78078385, 78078931], [78079547, 78079693], [78081355, 78081517]]
ENST00000577106 [[78075385, 78075424], [78075609, 78075724], [78078353, 78078931], [78079547, 78079627]] [[78078385, 78078931], [78079547, 78079627]]
ENST00000390015 [[78075392, 78075424], [78075609, 78075689], [78078353, 78078931], [78079547, 78079693], [78081355, 78081521], [78081598, 78081695], [78082088, 78082208], [78082287, 78082406], [78082495, 78082627], [78083743, 78083854], [78084525, 78084639], [78084739, 78084824], [78085781, 78085899], [78086376, 78086510], [78086674, 78086826], [78087016, 78087165], [78090766, 78090908], [78091398, 78091548], [78091991, 78092156], [78092451, 78092604], [78093070, 78093676]] [[78078385, 78078931], [78079547, 78079693], [78081355, 78081521], [78081598, 78081695], [78082088, 78082208], [78082287, 78082406], [78082495, 78082627], [78083743, 78083854], [78084525, 78084639], [78084739, 78084824], [78085781, 78085899], [78086376, 78086510], [78086674, 78086826], [78087016, 78087165], [78090766, 78090908], [78091398, 78091548], [78091991, 78092156], [78092451, 78092604], [78093070, 78093130]]
ENST00000574376 [[78075395, 78075424], [78075609, 78076532]] None
ENST00000302262 [[78075502, 78075689], [78078353, 78078931], [78079547, 78079693], [78081355, 78081521], [78081598, 78081695], [78082088, 78082208], [78082287, 78082406], [78082495, 78082627], [78083743, 78083854], [78084525, 78084639], [78084739, 78084824], [78085781, 78085899], [78086376, 78086510], [78086674, 78086826], [78087016, 78087165], [78090766, 78090908], [78091398, 78091548], [78091991, 78092156], [78092451, 78092604], [78093070, 78093678]] [[78078385, 78078931], [78079547, 78079693], [78081355, 78081521], [78081598, 78081695], [78082088, 78082208], [78082287, 78082406], [78082495, 78082627], [78083743, 78083854], [78084525, 78084639], [78084739, 78084824], [78085781, 78085899], [78086376, 78086510], [78086674, 78086826], [78087016, 78087165], [78090766, 78090908], [78091398, 78091548], [78091991, 78092156], [78092451, 78092604], [78093070, 78093130]]
ENST00000572080 [[78084800, 78084824], [78085781, 78085899], [78086376, 78086510], [78086643, 78086826], [78087016, 78087165], [78090766, 78090881]] [[78084800, 78084824], [78085781, 78085899], [78086376, 78086510], [78086643, 78086648]]
ENST00000572803 [[78085531, 78085899], [78086376, 78086510], [78086674, 78086747]] None
ENST00000570716 [[78086182, 78086510], [78086674, 78086826], [78087016, 78087070]] None
ENST00000573556 [[78090624, 78090908], [78091398, 78091548], [78091991, 78092156], [78092451, 78092604], [78093070, 78093074]] None
NR_134848 [[78075324, 78075424], [78075609, 78076536]] None
NM_001079804 [[78075324, 78075424], [78078353, 78078931], [78079547, 78079693], [78081355, 78081521], [78081598, 78081695], [78082088, 78082208], [78082287, 78082406], [78082495, 78082627], [78083743, 78083854], [78084525, 78084639], [78084739, 78084824], [78085781, 78085899], [78086376, 78086510], [78086674, 78086826], [78087016, 78087165], [78090766, 78090908], [78091398, 78091548], [78091991, 78092156], [78092451, 78092604], [78093070, 78093681]] [[78078385, 78078931], [78079547, 78079693], [78081355, 78081521], [78081598, 78081695], [78082088, 78082208], [78082287, 78082406], [78082495, 78082627], [78083743, 78083854], [78084525, 78084639], [78084739, 78084824], [78085781, 78085899], [78086376, 78086510], [78086674, 78086826], [78087016, 78087165], [78090766, 78090908], [78091398, 78091548], [78091991, 78092156], [78092451, 78092604], [78093070, 78093130]]
NM_001079803 [[78075324, 78075424], [78075609, 78075689], [78078353, 78078931], [78079547, 78079693], [78081355, 78081521], [78081598, 78081695], [78082088, 78082208], [78082287, 78082406], [78082495, 78082627], [78083743, 78083854], [78084525, 78084639], [78084739, 78084824], [78085781, 78085899], [78086376, 78086510], [78086674, 78086826], [78087016, 78087165], [78090766, 78090908], [78091398, 78091548], [78091991, 78092156], [78092451, 78092604], [78093070, 78093681]] [[78078385, 78078931], [78079547, 78079693], [78081355, 78081521], [78081598, 78081695], [78082088, 78082208], [78082287, 78082406], [78082495, 78082627], [78083743, 78083854], [78084525, 78084639], [78084739, 78084824], [78085781, 78085899], [78086376, 78086510], [78086674, 78086826], [78087016, 78087165], [78090766, 78090908], [78091398, 78091548], [78091991, 78092156], [78092451, 78092604], [78093070, 78093130]]
NM_000152 [[78075324, 78075689], [78078353, 78078931], [78079547, 78079693], [78081355, 78081521], [78081598, 78081695], [78082088, 78082208], [78082287, 78082406], [78082495, 78082627], [78083743, 78083854], [78084525, 78084639], [78084739, 78084824], [78085781, 78085899], [78086376, 78086510], [78086674, 78086826], [78087016, 78087165], [78090766, 78090908], [78091398, 78091548], [78091991, 78092156], [78092451, 78092604], [78093070, 78093681]] [[78078385, 78078931], [78079547, 78079693], [78081355, 78081521], [78081598, 78081695], [78082088, 78082208], [78082287, 78082406], [78082495, 78082627], [78083743, 78083854], [78084525, 78084639], [78084739, 78084824], [78085781, 78085899], [78086376, 78086510], [78086674, 78086826], [78087016, 78087165], [78090766, 78090908], [78091398, 78091548], [78091991, 78092156], [78092451, 78092604], [78093070, 78093130]]
Promoter
Chrom Start End Description
chr17 78075324 78075358 CAGE_peak_2_at_GAA_5end
chr17 78075361 78075403 CAGE_peak_1_at_GAA_5end
chr17 78075450 78075461 CAGE_peak_7_at_GAA_5end
chr17 78075498 78075513 CAGE_peak_9_at_GAA_5end
chr17 78078521 78078541 CAGE_peak_11_at_GAA_5end
chr17 78078625 78078656 CAGE_peak_3_at_GAA_5end
chr17 78078749 78078775 CAGE_peak_8_at_GAA_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I079984 79984528 79995585 2.3 [{'connected_gene': 'EIF4A3', 'score': 25.29}, {'connected_gene': 'CCDC40', 'score': 23.25}, {'connected_gene': 'ENGASE', 'score': 14.06}, {'connected_gene': 'CBX2', 'score': 13.73}, {'connected_gene': 'TBC1D16', 'score': 11.96}, {'connected_gene': 'LOC100294362', 'score': 11.2}, {'connected_gene': 'ENDOV', 'score': 10.82}, {'connected_gene': 'SGSH', 'score': 9.93}, {'connected_gene': 'CANT1', 'score': 9.69}, {'connected_gene': 'ENSG00000262580', 'score': 5.5}, {'connected_gene': 'CBX4', 'score': 3.89}, {'connected_gene': 'CBX8', 'score': 2.16}, {'connected_gene': 'GAA', 'score': 1.26}, {'connected_gene': 'RNF213', 'score': 1.14}, {'connected_gene': 'ENSG00000262172', 'score': 0.77}, {'connected_gene': 'GC17P079977', 'score': 0.39}]
chr17 GH17I080018 80018700 80020871 1.04 [{'connected_gene': 'EIF4A3', 'score': 11.14}, {'connected_gene': 'CCDC40', 'score': 8.2}, {'connected_gene': 'GAA', 'score': 4.95}, {'connected_gene': 'ENSG00000261978', 'score': 0.77}, {'connected_gene': 'PIR44772', 'score': 0.39}, {'connected_gene': 'GC17P080013', 'score': 0.39}, {'connected_gene': 'TBC1D16', 'score': 0.37}]
chr17 GH17I080082 80082354 80083408 0.92 [{'connected_gene': 'EIF4A3', 'score': 11.86}, {'connected_gene': 'GAA', 'score': 11.84}, {'connected_gene': 'CARD14', 'score': 5.19}, {'connected_gene': 'MIR1268B', 'score': 0.37}, {'connected_gene': 'GC17P080040', 'score': 0.26}, {'connected_gene': 'CCDC40', 'score': 0.25}]
chr17 GH17I080068 80068338 80072096 1.13 [{'connected_gene': 'EIF4A3', 'score': 26.37}, {'connected_gene': 'GAA', 'score': 25.87}, {'connected_gene': 'CCDC40', 'score': 20.41}, {'connected_gene': 'TBC1D16', 'score': 12.58}, {'connected_gene': 'CBX2', 'score': 9.87}, {'connected_gene': 'MIR1268B', 'score': 0.31}, {'connected_gene': 'GC17P080040', 'score': 0.31}]
chr17 GH17I080177 80177991 80178671 1.02 [{'connected_gene': 'CARD14', 'score': 550.44}, {'connected_gene': 'GAA', 'score': 10.22}, {'connected_gene': 'GC17P080181', 'score': 0.77}]
chr17 GH17I080169 80169402 80170578 0.74 [{'connected_gene': 'CARD14', 'score': 550.77}, {'connected_gene': 'GAA', 'score': 14.4}, {'connected_gene': 'GC17M080155', 'score': 0.39}]
chr17 GH17I080207 80207801 80208200 0.31 [{'connected_gene': 'SGSH', 'score': 24.02}, {'connected_gene': 'EIF4A3', 'score': 11.53}, {'connected_gene': 'GAA', 'score': 5.49}, {'connected_gene': 'ENSG00000262580', 'score': 0.77}, {'connected_gene': 'GC17M080212', 'score': 0.44}, {'connected_gene': 'GC17P080181', 'score': 0.31}, {'connected_gene': 'CARD14', 'score': 0.28}]
chr17 GH17I080252 80252622 80266776 2.87 [{'connected_gene': 'RNF213', 'score': 558.49}, {'connected_gene': 'GC17M080259', 'score': 550.77}, {'connected_gene': 'EIF4A3', 'score': 17.75}, {'connected_gene': 'CHMP6', 'score': 13.86}, {'connected_gene': 'ENSG00000262580', 'score': 11.85}, {'connected_gene': 'CARD14', 'score': 11.72}, {'connected_gene': 'CEP131', 'score': 9.67}, {'connected_gene': 'RPL12P37', 'score': 5.75}, {'connected_gene': 'SLC26A11', 'score': 5.49}, {'connected_gene': 'RBFOX3', 'score': 5.18}, {'connected_gene': 'SGSH', 'score': 3.72}, {'connected_gene': 'GAA', 'score': 2.76}]
chr17 GH17I080575 80575441 80575610 1.04 [{'connected_gene': 'RPTOR', 'score': 12.2}, {'connected_gene': 'TEPSIN', 'score': 12.09}, {'connected_gene': 'GAA', 'score': 9.91}, {'connected_gene': 'LOC105371922', 'score': 0.39}]
chr17 GH17I079996 79996188 79998467 1.11 [{'connected_gene': 'CCDC40', 'score': 6.69}, {'connected_gene': 'EIF4A3', 'score': 5.17}, {'connected_gene': 'ENGASE', 'score': 4.77}, {'connected_gene': 'RNF213', 'score': 4.57}, {'connected_gene': 'GAA', 'score': 3.46}, {'connected_gene': 'CBX4', 'score': 2.59}, {'connected_gene': 'SGSH', 'score': 2.54}, {'connected_gene': 'ENSG00000262172', 'score': 0.77}, {'connected_gene': 'PIR41919', 'score': 0.44}, {'connected_gene': 'TBC1D16', 'score': 0.28}]
chr17 GH17I080028 80028168 80031655 1.2 [{'connected_gene': 'CCDC40', 'score': 37.58}, {'connected_gene': 'EIF4A3', 'score': 10.64}, {'connected_gene': 'TBC1D16', 'score': 5.89}, {'connected_gene': 'GAA', 'score': 5.73}, {'connected_gene': 'ENSG00000262580', 'score': 5.1}, {'connected_gene': 'ENSG00000261978', 'score': 0.44}]
chr17 GH17I080034 80034689 80037498 2.21 [{'connected_gene': 'CCDC40', 'score': 590.38}, {'connected_gene': 'TBC1D16', 'score': 566.49}, {'connected_gene': 'GAA', 'score': 11.29}]
chr17 GH17I080378 80378428 80378699 0.23 [{'connected_gene': 'ENDOV', 'score': 11.79}, {'connected_gene': 'CARD14', 'score': 11.12}, {'connected_gene': 'EIF4A3', 'score': 10.86}, {'connected_gene': 'RNF213', 'score': 2.61}, {'connected_gene': 'GAA', 'score': 1.5}, {'connected_gene': 'PIR58967', 'score': 0.77}, {'connected_gene': 'PIR46423', 'score': 0.77}, {'connected_gene': 'LOC100294362', 'score': 0.28}]
chr17 GH17I080109 80109722 80109891 0.46 [{'connected_gene': 'GAA', 'score': 39.52}, {'connected_gene': 'EIF4A3', 'score': 11.91}, {'connected_gene': 'CARD14', 'score': 11.68}, {'connected_gene': 'TBC1D16', 'score': 11.15}, {'connected_gene': 'CCDC40', 'score': 11.15}, {'connected_gene': 'GC17M080103', 'score': 0.77}, {'connected_gene': 'GC17P080128', 'score': 0.37}]
chr17 GH17I080092 80092001 80093407 0.31 [{'connected_gene': 'GAA', 'score': 17.71}, {'connected_gene': 'EIF4A3', 'score': 11.89}, {'connected_gene': 'CARD14', 'score': 11.77}, {'connected_gene': 'ENSG00000262580', 'score': 5.45}, {'connected_gene': 'MIR1268B', 'score': 0.44}, {'connected_gene': 'GC17P080040', 'score': 0.23}, {'connected_gene': 'CCDC40', 'score': 0.22}]
chr17 GH17I080065 80065271 80066380 0.31 [{'connected_gene': 'GAA', 'score': 19.86}, {'connected_gene': 'CARD14', 'score': 11.47}, {'connected_gene': 'EIF4A3', 'score': 11.23}, {'connected_gene': 'TBC1D16', 'score': 6.63}, {'connected_gene': 'GC17P080040', 'score': 0.31}, {'connected_gene': 'CCDC40', 'score': 0.31}, {'connected_gene': 'MIR1268B', 'score': 0.29}]
chr17 GH17I080175 80175074 80175899 0.92 [{'connected_gene': 'GAA', 'score': 13.34}, {'connected_gene': 'CARD14', 'score': 0.44}, {'connected_gene': 'GC17P080181', 'score': 0.44}]
chr17 GH17I080161 80160502 80160851 0.67 [{'connected_gene': 'GAA', 'score': 12.36}, {'connected_gene': 'GC17M080155', 'score': 0.44}, {'connected_gene': 'CARD14', 'score': 0.44}]
chr17 GH17I080063 80063903 80064051 0.46 [{'connected_gene': 'GAA', 'score': 13.2}, {'connected_gene': 'GC17P080040', 'score': 0.34}, {'connected_gene': 'CCDC40', 'score': 0.31}, {'connected_gene': 'MIR1268B', 'score': 0.29}]
chr17 GH17I080100 80100562 80103502 2 [{'connected_gene': 'GAA', 'score': 592.6}, {'connected_gene': 'GC17M080103', 'score': 0.77}, {'connected_gene': 'CCDC40', 'score': 0.2}]
chr17 GH17I079192 79192574 79194299 0.98 [{'connected_gene': 'GAA', 'score': 5.22}, {'connected_gene': 'PIR62880', 'score': 0.39}, {'connected_gene': 'GC17P079166', 'score': 0.31}, {'connected_gene': 'RBFOX3', 'score': 0.05}]
chr17 GH17I080118 80118122 80118271 0.43 [{'connected_gene': 'GAA', 'score': 22.0}, {'connected_gene': 'GC17M080103', 'score': 0.39}, {'connected_gene': 'GC17P080128', 'score': 0.39}]
chr17 GH17I080123 80123771 80125331 1.22 [{'connected_gene': 'GAA', 'score': 32.3}, {'connected_gene': 'GC17P080128', 'score': 0.77}, {'connected_gene': 'GC17M080103', 'score': 0.37}]
chr17 GH17I080151 80151183 80153311 0.84 [{'connected_gene': 'GAA', 'score': 12.62}, {'connected_gene': 'GC17M080155', 'score': 0.77}, {'connected_gene': 'ENSG00000275479', 'score': 0.77}]
chr17 GH17I080186 80186821 80188691 0.77 [{'connected_gene': 'LOC100294362', 'score': 10.83}, {'connected_gene': 'GAA', 'score': 7.43}, {'connected_gene': 'ENSG00000262580', 'score': 7.36}, {'connected_gene': 'CCDC40', 'score': 4.62}, {'connected_gene': 'GC17P080181', 'score': 0.44}, {'connected_gene': 'CARD14', 'score': 0.37}]
chr17 GH17I080144 80144663 80148488 2.31 [{'connected_gene': 'GC17P080148', 'score': 550.77}, {'connected_gene': 'ENSG00000279259', 'score': 550.77}, {'connected_gene': 'EIF4A3', 'score': 550.77}, {'connected_gene': 'GAA', 'score': 22.31}, {'connected_gene': 'ENSG00000262580', 'score': 4.77}, {'connected_gene': 'GC17P080130', 'score': 0.37}]
chr17 GH17I080022 80022855 80027076 1.33 [{'connected_gene': 'ENSG00000261978', 'score': 550.77}, {'connected_gene': 'CCDC40', 'score': 33.77}, {'connected_gene': 'EIF4A3', 'score': 25.89}, {'connected_gene': 'GAA', 'score': 11.13}, {'connected_gene': 'CHMP6', 'score': 10.27}, {'connected_gene': 'TBC1D16', 'score': 5.49}]
chr17 GH17I080154 80154282 80154491 0.2 [{'connected_gene': 'GC17M080155', 'score': 550.77}, {'connected_gene': 'GAA', 'score': 6.97}, {'connected_gene': 'ENSG00000275479', 'score': 0.77}]
chr17 GH17I080453 80453301 80458286 2.05 [{'connected_gene': 'ENSG00000260369', 'score': 550.77}, {'connected_gene': 'CEP131', 'score': 22.43}, {'connected_gene': 'TEPSIN', 'score': 13.64}, {'connected_gene': 'TBC1D16', 'score': 11.47}, {'connected_gene': 'LOC105371925', 'score': 10.61}, {'connected_gene': 'CBX8', 'score': 10.07}, {'connected_gene': 'NPTX1', 'score': 6.54}, {'connected_gene': 'EIF4A3', 'score': 6.4}, {'connected_gene': 'SGSH', 'score': 4.38}, {'connected_gene': 'GAA', 'score': 2.02}, {'connected_gene': 'SLC26A11', 'score': 1.18}, {'connected_gene': 'ENSG00000279273', 'score': 0.44}]

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