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
ENST00000392636 [[112123856, 112124043], [112130500, 112130700], [112139965, 112140114], [112143541, 112143736], [112147329, 112147488], [112150301, 112150461], [112153624, 112153766], [112159474, 112159543], [112167609, 112167760], [112171726, 112171872], [112174634, 112174808], [112182446, 112182847], [112183947, 112184088], [112184852, 112184990], [112185098, 112185189], [112186120, 112186279], [112186814, 112186843]] [[112159494, 112159543], [112167609, 112167760], [112171726, 112171872], [112174634, 112174808], [112182446, 112182847], [112183947, 112184088], [112184852, 112184990], [112185098, 112185189], [112186120, 112186279], [112186814, 112186843]]
ENST00000511915 [[112123859, 112124043], [112130500, 112130938]] None
ENST00000514615 [[112123867, 112124043], [112124154, 112124178], [112130500, 112130700], [112139965, 112140066]] [[112130513, 112130700], [112139965, 112140066]]
ENST00000509936 [[112123871, 112124043], [112130500, 112130700], [112139965, 112140114], [112143541, 112143736], [112147329, 112147796]] None
ENST00000413681 [[112123871, 112124043], [112130500, 112130700], [112139965, 112140114], [112143541, 112143736], [112147329, 112147488], [112150301, 112150461], [112153624, 112153766], [112159474, 112159543], [112165765, 112165947], [112167609, 112167760], [112171726, 112171872], [112174634, 112174808], [112182446, 112182847], [112183947, 112184088], [112184852, 112184990], [112185098, 112185189], [112186120, 112186279], [112186814, 112186936]] None
ENST00000549590 [[112123874, 112124043], [112130500, 112130700], [112139965, 112140114], [112143541, 112143736], [112147329, 112147488], [112150301, 112150461], [112153624, 112153766], [112159474, 112159543], [112165765, 112165947], [112167609, 112167760], [112171726, 112171872], [112174634, 112174808], [112182446, 112183438]] [[112130513, 112130700], [112139965, 112140114], [112143541, 112143736], [112147329, 112147488], [112150301, 112150461], [112153624, 112153766], [112159474, 112159543], [112165765, 112165947], [112167609, 112167760], [112171726, 112171872], [112174634, 112174808], [112182446, 112182865]]
ENST00000455480 [[112123879, 112124043], [112130500, 112130700], [112139965, 112140114], [112143541, 112143736], [112147329, 112147488], [112148076, 112148169], [112150301, 112150461], [112153624, 112153766], [112159474, 112159543], [112165765, 112165947], [112167609, 112167760], [112171726, 112171872], [112174634, 112174808], [112182446, 112182847], [112183947, 112184088], [112184852, 112184990], [112185098, 112185189], [112186120, 112186279], [112186976, 112187149], [112191575, 112191719], [112193471, 112193549], [112194136, 112194898]] [[112130513, 112130700], [112139965, 112140114], [112143541, 112143736], [112147329, 112147488], [112148076, 112148169], [112150301, 112150461], [112153624, 112153766], [112159474, 112159543], [112165765, 112165947], [112167609, 112167760], [112171726, 112171872], [112174634, 112174808], [112182446, 112182847], [112183947, 112184088], [112184852, 112184990], [112185098, 112185189], [112186120, 112186279], [112186976, 112187149], [112191575, 112191719], [112193471, 112193549], [112194136, 112194277]]
ENST00000552965 [[112123880, 112124043], [112125861, 112126022], [112128255, 112128357], [112128862, 112128972], [112130500, 112130553]] [[112130513, 112130553]]
ENST00000507135 [[112123884, 112124043], [112130500, 112130700], [112139965, 112140114], [112143541, 112143736], [112147329, 112147488], [112150301, 112150461], [112159474, 112159794]] None
ENST00000515283 [[112123885, 112124043], [112182446, 112182847], [112183947, 112184091]] [[112182553, 112182847], [112183947, 112184091]]
ENST00000313698 [[112123901, 112124043], [112130500, 112130700], [112139965, 112140114], [112143541, 112143736], [112147329, 112147488], [112150301, 112150461], [112153624, 112153766], [112159474, 112159543], [112165765, 112165947], [112167609, 112167760], [112171726, 112171872], [112174634, 112174808], [112182446, 112182847], [112183947, 112184088], [112184852, 112184990], [112185098, 112185189], [112186120, 112186279], [112186976, 112187149], [112191575, 112191719], [112193471, 112193549], [112194136, 112194901]] [[112130513, 112130700], [112139965, 112140114], [112143541, 112143736], [112147329, 112147488], [112150301, 112150461], [112153624, 112153766], [112159474, 112159543], [112165765, 112165947], [112167609, 112167760], [112171726, 112171872], [112174634, 112174808], [112182446, 112182847], [112183947, 112184088], [112184852, 112184990], [112185098, 112185189], [112186120, 112186279], [112186976, 112187149], [112191575, 112191719], [112193471, 112193549], [112194136, 112194277]]
ENST00000502746 [[112143679, 112143736], [112147329, 112147488], [112153624, 112153766], [112159474, 112159543], [112167609, 112167745]] None
ENST00000552706 [[112150301, 112150461], [112153624, 112153766], [112159474, 112159543], [112165765, 112165947], [112171726, 112171851]] [[112150301, 112150461], [112153624, 112153766], [112159474, 112159543], [112165765, 112165947], [112171726, 112171851]]
ENST00000514847 [[112150327, 112150461], [112153624, 112153766], [112159474, 112159793]] None
ENST00000507683 [[112150327, 112150461], [112153624, 112153766], [112159474, 112159543], [112165765, 112165947], [112182446, 112182752]] [[112150327, 112150461], [112153624, 112153766], [112159474, 112159543], [112165765, 112165947], [112182446, 112182752]]
ENST00000503490 [[112153300, 112153491], [112153624, 112153766], [112159474, 112159543], [112165765, 112165922]] None
ENST00000508303 [[112153309, 112153491], [112153624, 112153766], [112159474, 112159543], [112167609, 112167760], [112171726, 112171872], [112174634, 112174808], [112182446, 112182847], [112183947, 112184088], [112184852, 112184990], [112185098, 112185189], [112186120, 112186279], [112186814, 112186907], [112193471, 112193549], [112194015, 112194152], [112194679, 112194903]] None
ENST00000552177 [[112171593, 112171872], [112174634, 112174808], [112182446, 112182853]] None
ENST00000504803 [[112174661, 112174808], [112182446, 112182847], [112183947, 112184088], [112184852, 112184990], [112185098, 112185189], [112186120, 112186279], [112186976, 112187573]] None
ENST00000546647 [[112182374, 112182847], [112183947, 112184088], [112184852, 112185012]] None
ENST00000505487 [[112184963, 112184990], [112185098, 112185189], [112185391, 112185529], [112186814, 112187007]] None
ENST00000550198 [[112184963, 112184990], [112185098, 112185189], [112186120, 112186279], [112186814, 112187007]] None
ENST00000507688 [[112185095, 112185189], [112185391, 112185529], [112186120, 112186279], [112186976, 112187007]] None
ENST00000547491 [[112186549, 112187149], [112191575, 112191719], [112193471, 112193549], [112194136, 112194324]] None
ENST00000512792 [[112190533, 112191719], [112193471, 112194903]] None
NM_025247 [[112123856, 112124043], [112130500, 112130700], [112139965, 112140114], [112143541, 112143736], [112147329, 112147488], [112150301, 112150461], [112153624, 112153766], [112159474, 112159543], [112165765, 112165947], [112167609, 112167760], [112171726, 112171872], [112174634, 112174808], [112182446, 112182847], [112183947, 112184088], [112184852, 112184990], [112185098, 112185189], [112186120, 112186279], [112186976, 112187149], [112191575, 112191719], [112193471, 112193549], [112194136, 112194911]] [[112130513, 112130700], [112139965, 112140114], [112143541, 112143736], [112147329, 112147488], [112150301, 112150461], [112153624, 112153766], [112159474, 112159543], [112165765, 112165947], [112167609, 112167760], [112171726, 112171872], [112174634, 112174808], [112182446, 112182847], [112183947, 112184088], [112184852, 112184990], [112185098, 112185189], [112186120, 112186279], [112186976, 112187149], [112191575, 112191719], [112193471, 112193549], [112194136, 112194277]]
NM_001136538 [[112123856, 112124043], [112130500, 112130700], [112139965, 112140114], [112143541, 112143736], [112147329, 112147488], [112148076, 112148169], [112150301, 112150461], [112153624, 112153766], [112159474, 112159543], [112165765, 112165947], [112167609, 112167760], [112171726, 112171872], [112174634, 112174808], [112182446, 112182847], [112183947, 112184088], [112184852, 112184990], [112185098, 112185189], [112186120, 112186279], [112186976, 112187149], [112191575, 112191719], [112193471, 112193549], [112194136, 112194911]] [[112130513, 112130700], [112139965, 112140114], [112143541, 112143736], [112147329, 112147488], [112148076, 112148169], [112150301, 112150461], [112153624, 112153766], [112159474, 112159543], [112165765, 112165947], [112167609, 112167760], [112171726, 112171872], [112174634, 112174808], [112182446, 112182847], [112183947, 112184088], [112184852, 112184990], [112185098, 112185189], [112186120, 112186279], [112186976, 112187149], [112191575, 112191719], [112193471, 112193549], [112194136, 112194277]]
Promoter
Chrom Start End Description
chr12 112123850 112123913 CAGE_peak_1_at_ACAD10_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I111748 111748157 111749399 0.58 [{'connected_gene': 'MAPKAPK5', 'score': 10.97}, {'connected_gene': 'MAPKAPK5-AS1', 'score': 10.97}, {'connected_gene': 'GC12M111745', 'score': 0.77}, {'connected_gene': 'ENSG00000257767', 'score': 0.44}, {'connected_gene': 'GC12M111747', 'score': 0.39}, {'connected_gene': 'ACAD10', 'score': 0.21}]
chr12 GH12I111691 111691727 111691786 0.5 [{'connected_gene': 'ACAD10', 'score': 550.44}, {'connected_gene': 'ALDH2', 'score': 11.41}, {'connected_gene': 'PIR62350', 'score': 0.34}]
chr12 GH12I110693 110693356 110695200 1.13 [{'connected_gene': 'TCTN1', 'score': 11.74}, {'connected_gene': 'FAM216A', 'score': 10.21}, {'connected_gene': 'ACAD10', 'score': 9.73}, {'connected_gene': 'HVCN1', 'score': 0.39}, {'connected_gene': 'RN7SL387P', 'score': 0.2}]
chr12 GH12I111684 111684433 111687226 2.08 [{'connected_gene': 'BRAP', 'score': 550.77}, {'connected_gene': 'ACAD10', 'score': 550.77}, {'connected_gene': 'ALDH2', 'score': 14.61}, {'connected_gene': 'TRAFD1', 'score': 12.9}, {'connected_gene': 'RPL6', 'score': 11.85}, {'connected_gene': 'HSPA8P14', 'score': 10.57}, {'connected_gene': 'RPS2P41', 'score': 9.84}, {'connected_gene': 'PCNPP1', 'score': 0.37}]
chr12 GH12I111780 111780086 111781809 0.66 [{'connected_gene': 'BRAP', 'score': 10.84}, {'connected_gene': 'ACAD10', 'score': 10.84}, {'connected_gene': 'GC12P111792', 'score': 0.44}, {'connected_gene': 'ALDH2', 'score': 0.39}, {'connected_gene': 'ENSG00000257767', 'score': 0.31}]
chr12 GH12I111779 111779463 111779872 0.4 [{'connected_gene': 'BRAP', 'score': 10.84}, {'connected_gene': 'ACAD10', 'score': 10.84}, {'connected_gene': 'GC12P111792', 'score': 0.39}, {'connected_gene': 'ALDH2', 'score': 0.39}, {'connected_gene': 'ENSG00000257767', 'score': 0.31}]
chr12 GH12I111785 111785837 111785986 0.31 [{'connected_gene': 'BRAP', 'score': 11.27}, {'connected_gene': 'ACAD10', 'score': 11.27}, {'connected_gene': 'GC12P111792', 'score': 0.77}, {'connected_gene': 'ALDH2', 'score': 0.37}, {'connected_gene': 'ENSG00000257767', 'score': 0.29}]
chr12 GH12I111688 111687437 111687506 0.52 [{'connected_gene': 'BRAP', 'score': 550.77}, {'connected_gene': 'ACAD10', 'score': 550.77}, {'connected_gene': 'PIR62350', 'score': 0.31}]
chr12 GH12I111687 111687277 111687426 0.54 [{'connected_gene': 'BRAP', 'score': 550.77}, {'connected_gene': 'ACAD10', 'score': 550.77}, {'connected_gene': 'PIR62350', 'score': 0.31}]
chr12 GH12I111692 111692937 111693086 0.56 [{'connected_gene': 'ALDH2', 'score': 11.42}, {'connected_gene': 'ACAD10', 'score': 0.44}, {'connected_gene': 'PIR62350', 'score': 0.37}]
chr12 GH12I111772 111772624 111778864 1.68 [{'connected_gene': 'ALDH2', 'score': 14.83}, {'connected_gene': 'BRAP', 'score': 10.85}, {'connected_gene': 'ACAD10', 'score': 10.85}, {'connected_gene': 'SH2B3', 'score': 7.12}, {'connected_gene': 'FAM109A', 'score': 1.3}, {'connected_gene': 'GC12P111792', 'score': 0.39}, {'connected_gene': 'ENSG00000257767', 'score': 0.34}]
chr12 GH12I111813 111813001 111813600 1.03 [{'connected_gene': 'ALDH2', 'score': 11.72}, {'connected_gene': 'BRAP', 'score': 10.91}, {'connected_gene': 'ACAD10', 'score': 10.91}, {'connected_gene': 'GC12P111809', 'score': 0.44}, {'connected_gene': 'GC12P111836', 'score': 0.34}]
chr12 GH12I111784 111784864 111785434 0.38 [{'connected_gene': 'ALDH2', 'score': 14.09}, {'connected_gene': 'BRAP', 'score': 11.27}, {'connected_gene': 'ACAD10', 'score': 11.27}, {'connected_gene': 'GC12P111792', 'score': 0.44}, {'connected_gene': 'ENSG00000257767', 'score': 0.29}]
chr12 GH12I111787 111787477 111787606 0.96 [{'connected_gene': 'ALDH2', 'score': 12.36}, {'connected_gene': 'BRAP', 'score': 11.26}, {'connected_gene': 'ACAD10', 'score': 11.26}, {'connected_gene': 'GC12P111792', 'score': 0.77}, {'connected_gene': 'ENSG00000257767', 'score': 0.29}]
chr12 GH12I111635 111635007 111637790 1.17 [{'connected_gene': 'ALDH2', 'score': 11.57}, {'connected_gene': 'TRAFD1', 'score': 9.98}, {'connected_gene': 'ACAD10', 'score': 4.59}, {'connected_gene': 'GC12M111627', 'score': 0.39}, {'connected_gene': 'GC12P111612', 'score': 0.34}]
chr12 GH12I111788 111788234 111788876 1 [{'connected_gene': 'GC12P111792', 'score': 550.77}, {'connected_gene': 'ADAM1A', 'score': 13.65}, {'connected_gene': 'ALDH2', 'score': 12.36}, {'connected_gene': 'BRAP', 'score': 11.26}, {'connected_gene': 'ACAD10', 'score': 11.26}, {'connected_gene': 'ENSG00000257767', 'score': 0.29}]
chr12 GH12I111754 111754817 111754966 0.4 [{'connected_gene': 'ENSG00000257767', 'score': 550.77}, {'connected_gene': 'GC12P111759', 'score': 0.77}, {'connected_gene': 'GC12M111747', 'score': 0.44}, {'connected_gene': 'ACAD10', 'score': 0.2}]
chr12 GH12I111806 111806661 111807854 0.69 [{'connected_gene': 'GC12P111809', 'score': 550.77}, {'connected_gene': 'ALDH2', 'score': 12.95}, {'connected_gene': 'ADAM1A', 'score': 11.44}, {'connected_gene': 'BRAP', 'score': 10.51}, {'connected_gene': 'ACAD10', 'score': 10.51}, {'connected_gene': 'GC12M111800', 'score': 0.77}]
chr12 GH12I111753 111753317 111753486 1 [{'connected_gene': 'ENSG00000257767', 'score': 550.77}, {'connected_gene': 'ALDH2', 'score': 14.23}, {'connected_gene': 'MAPKAPK5', 'score': 10.98}, {'connected_gene': 'MAPKAPK5-AS1', 'score': 10.98}, {'connected_gene': 'GC12M111747', 'score': 0.44}, {'connected_gene': 'GC12M111745', 'score': 0.44}, {'connected_gene': 'ACAD10', 'score': 0.2}]
chr12 GH12I111740 111740630 111742599 1.08 [{'connected_gene': 'GC12M111739', 'score': 550.77}, {'connected_gene': 'ALDH2', 'score': 25.42}, {'connected_gene': 'GC12M111745', 'score': 0.77}, {'connected_gene': 'ACAD10', 'score': 0.22}]
chr12 GH12I111789 111789255 111791058 0.43 [{'connected_gene': 'GC12P111792', 'score': 550.77}, {'connected_gene': 'GC12P111791', 'score': 550.77}, {'connected_gene': 'GC12P111790', 'score': 550.77}, {'connected_gene': 'ALDH2', 'score': 26.26}, {'connected_gene': 'BRAP', 'score': 11.26}, {'connected_gene': 'ACAD10', 'score': 11.26}, {'connected_gene': 'ENSG00000257767', 'score': 0.28}]

© 2018 bmi.sjtu.edu.cn. All rights reserved.
浙ICP备18030141号.