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
ENST00000297641 [[15553004, 15553300], [15563975, 15564127], [15571621, 15571757], [15578846, 15579021], [15591363, 15591554], [15594038, 15594170], [15623264, 15623411], [15657124, 15657217], [15666160, 15666321], [15678755, 15678894], [15695232, 15695335], [15721766, 15721873], [15723678, 15723744], [15724773, 15724974], [15727866, 15728034], [15729607, 15729796], [15744270, 15744775], [15745512, 15745629], [15777597, 15777824], [15778965, 15779148], [15784506, 15784692], [15846699, 15846845], [15848890, 15848945], [15874529, 15874661], [15883071, 15883161]] [[15564086, 15564127], [15571621, 15571757], [15578846, 15579021], [15591363, 15591554], [15594038, 15594170], [15623264, 15623411], [15657124, 15657217], [15666160, 15666321], [15678755, 15678894], [15695232, 15695335], [15721766, 15721873], [15723678, 15723744], [15724773, 15724974], [15727866, 15728034], [15729607, 15729796], [15744270, 15744775], [15745512, 15745629], [15777597, 15777824], [15778965, 15779148], [15784506, 15784692], [15846699, 15846845], [15848890, 15848945], [15874529, 15874661], [15883071, 15883161]]
ENST00000380701 [[15553083, 15553300], [15563975, 15564127], [15571621, 15571757], [15578846, 15579021], [15591363, 15591554], [15594038, 15594170], [15623264, 15623411], [15657124, 15657217], [15666160, 15666321], [15678755, 15678894], [15695232, 15695335], [15721766, 15721873], [15723678, 15723744], [15724773, 15724974], [15727866, 15728034], [15729607, 15729796], [15744270, 15744775], [15745512, 15745629], [15777597, 15777824], [15778965, 15779148], [15784506, 15784692], [15846699, 15846845], [15848890, 15848945], [15874529, 15874661], [15920267, 15920420], [15971606, 15974037]] [[15564086, 15564127], [15571621, 15571757], [15578846, 15579021], [15591363, 15591554], [15594038, 15594170], [15623264, 15623411], [15657124, 15657217], [15666160, 15666321], [15678755, 15678894], [15695232, 15695335], [15721766, 15721873], [15723678, 15723744], [15724773, 15724974], [15727866, 15728034], [15729607, 15729796], [15744270, 15744775], [15745512, 15745629], [15777597, 15777824], [15778965, 15779148], [15784506, 15784692], [15846699, 15846845], [15848890, 15848945], [15874529, 15874661], [15920267, 15920420], [15971606, 15971834]]
ENST00000535968 [[15552894, 15552958], [15563975, 15564127], [15571621, 15571757], [15578846, 15579021], [15591363, 15591554], [15594038, 15594170], [15623264, 15623411], [15657124, 15660144]] [[15564086, 15564127], [15571621, 15571757], [15578846, 15579021], [15591363, 15591554], [15594038, 15594170], [15623264, 15623411], [15657124, 15657256]]
ENST00000449575 [[15744502, 15744775], [15745512, 15745629], [15777597, 15777824], [15778965, 15779148], [15784506, 15784692], [15846699, 15846845], [15848890, 15848945], [15874529, 15874661], [15883071, 15883189], [15885511, 15885586], [15885687, 15886803]] [[15744502, 15744775], [15745512, 15745629], [15777597, 15777824], [15778965, 15779148], [15784506, 15784692], [15846699, 15846845], [15848890, 15848945], [15874529, 15874661], [15883071, 15883161]]
ENST00000432954 [[15777765, 15777824], [15778965, 15779148], [15784506, 15784692], [15846699, 15846845], [15848890, 15848945], [15874529, 15876081]] [[15777765, 15777824], [15778965, 15779148], [15784506, 15784692], [15846699, 15846845], [15848890, 15848945], [15874529, 15874673]]
ENST00000470191 [[15845636, 15845699], [15846699, 15846845], [15848890, 15848945], [15874529, 15874661], [15920267, 15920420], [15971606, 15971895]] None
ENST00000498725 [[15850223, 15850309], [15874529, 15874661], [15920267, 15920420], [15971606, 15971733]] None
ENST00000486641 [[15874538, 15874661], [15920267, 15920420], [15922108, 15922200], [16020586, 16020792], [16022329, 16022583], [16022736, 16022906], [16035454, 16035523], [16036090, 16036204], [16042795, 16042918], [16060643, 16061661]] None
ENST00000474193 [[15553288, 15553604], [15563975, 15564022]] None
ENST00000472806 [[15887792, 15888086], [15888980, 15889099], [15920267, 15920332]] None
ENST00000478913 [[16042795, 16042884], [16060643, 16061318]] None
NM_173550 [[15553004, 15553300], [15563975, 15564127], [15571621, 15571757], [15578846, 15579021], [15591363, 15591554], [15594038, 15594170], [15623264, 15623411], [15657124, 15657217], [15666160, 15666321], [15678755, 15678894], [15695232, 15695335], [15721766, 15721873], [15723678, 15723744], [15724773, 15724974], [15727866, 15728034], [15729607, 15729796], [15744270, 15744775], [15745512, 15745629], [15777597, 15777824], [15778965, 15779148], [15784506, 15784692], [15846699, 15846845], [15848890, 15848945], [15874529, 15874661], [15920267, 15920420], [15971606, 15974037]] [[15564086, 15564127], [15571621, 15571757], [15578846, 15579021], [15591363, 15591554], [15594038, 15594170], [15623264, 15623411], [15657124, 15657217], [15666160, 15666321], [15678755, 15678894], [15695232, 15695335], [15721766, 15721873], [15723678, 15723744], [15724773, 15724974], [15727866, 15728034], [15729607, 15729796], [15744270, 15744775], [15745512, 15745629], [15777597, 15777824], [15778965, 15779148], [15784506, 15784692], [15846699, 15846845], [15848890, 15848945], [15874529, 15874661], [15920267, 15920420], [15971606, 15971834]]
NM_001348002 [[15553004, 15553300], [15563975, 15564127], [15571621, 15571757], [15578846, 15579021], [15587529, 15587691], [15591363, 15591554], [15594038, 15594170], [15623264, 15623411], [15657124, 15657217], [15666160, 15666321], [15678755, 15678894], [15695232, 15695335], [15721766, 15721873], [15723654, 15723744], [15724773, 15724974], [15727866, 15728034], [15729607, 15729796], [15744270, 15744775], [15745512, 15745629], [15777597, 15777824], [15778965, 15779148], [15784506, 15784692], [15846699, 15846845], [15848890, 15848945], [15874529, 15874661], [15920267, 15920420], [15971606, 15974037]] [[15587618, 15587691], [15591363, 15591554], [15594038, 15594170], [15623264, 15623411], [15657124, 15657217], [15666160, 15666321], [15678755, 15678894], [15695232, 15695335], [15721766, 15721873], [15723654, 15723744], [15724773, 15724974], [15727866, 15728034], [15729607, 15729796], [15744270, 15744775], [15745512, 15745629], [15777597, 15777824], [15778965, 15779148], [15784506, 15784692], [15846699, 15846845], [15848890, 15848945], [15874529, 15874661], [15920267, 15920420], [15971606, 15971834]]
Promoter
Chrom Start End Description
chr9 15552504 15552550 CAGE_peak_13_at_C9orf93_5end
chr9 15552867 15552907 CAGE_peak_4_at_C9orf93_5end
chr9 15553000 15553054 CAGE_peak_1_at_C9orf93_5end
chr9 15553055 15553101 CAGE_peak_3_at_C9orf93_5end
chr9 15553450 15553483 CAGE_peak_6_at_C9orf93_5end
chr9 15553484 15553501 CAGE_peak_8_at_C9orf93_5end
chr9 15553507 15553513 CAGE_peak_15_at_C9orf93_5end
chr9 15850201 15850216 CAGE_peak_5_at_C9orf93_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I015583 15583569 15585181 0.38 [{'connected_gene': 'CCDC171', 'score': 24.46}, {'connected_gene': 'HMGN2P16', 'score': 0.77}, {'connected_gene': 'GC09M015564', 'score': 0.39}]
chr9 GH09I015399 15399953 15402167 0.49 [{'connected_gene': 'CCDC171', 'score': 5.17}, {'connected_gene': 'SNAPC3', 'score': 0.34}, {'connected_gene': 'RPL7P33', 'score': 0.28}]
chr9 GH09I015551 15551787 15554626 2.03 [{'connected_gene': 'CCDC171', 'score': 563.42}, {'connected_gene': 'LOC389705', 'score': 11.44}, {'connected_gene': 'PSIP1', 'score': 11.1}, {'connected_gene': 'ENSG00000272871', 'score': 9.72}, {'connected_gene': 'GC09M015564', 'score': 0.37}]
chr9 GH09I015388 15388215 15391860 0.2 [{'connected_gene': 'CCDC171', 'score': 6.84}, {'connected_gene': 'RPL7P33', 'score': 0.31}, {'connected_gene': 'SNAPC3', 'score': 0.29}]
chr9 GH09I015532 15532703 15533584 0.59 [{'connected_gene': 'CCDC171', 'score': 12.04}, {'connected_gene': 'FTH1P12', 'score': 0.44}, {'connected_gene': 'GC09P015547', 'score': 0.39}]
chr9 GH09I015606 15606783 15606932 0.52 [{'connected_gene': 'CCDC171', 'score': 12.73}, {'connected_gene': 'PSIP1', 'score': 11.39}, {'connected_gene': 'HMGN2P16', 'score': 0.37}, {'connected_gene': 'GC09M015596', 'score': 0.18}]
chr9 GH09I015734 15734772 15735983 0.59 [{'connected_gene': 'CCDC171', 'score': 15.09}, {'connected_gene': 'GC09M015777', 'score': 0.26}, {'connected_gene': 'RNU6-14P', 'score': 0.26}, {'connected_gene': 'GC09M015596', 'score': 0.25}]
chr9 GH09I015973 15972046 15972510 0.4 [{'connected_gene': 'CCDC171', 'score': 7.41}, {'connected_gene': 'GC09P015957', 'score': 0.39}, {'connected_gene': 'GC09P016216', 'score': 0.07}]
chr9 GH09I015999 15999243 16000732 0.99 [{'connected_gene': 'CCDC171', 'score': 4.18}, {'connected_gene': 'GC09P015957', 'score': 0.26}, {'connected_gene': 'GC09P016216', 'score': 0.08}]
chr9 GH09I016011 16011605 16013661 0.38 [{'connected_gene': 'CCDC171', 'score': 12.92}, {'connected_gene': 'GC09P015957', 'score': 0.22}, {'connected_gene': 'GC09P016216', 'score': 0.08}]
chr9 GH09I016043 16043672 16045683 0.51 [{'connected_gene': 'CCDC171', 'score': 10.26}, {'connected_gene': 'GC09P015957', 'score': 0.17}, {'connected_gene': 'GC09P016216', 'score': 0.09}]
chr9 GH09I016023 16023394 16024211 0.51 [{'connected_gene': 'CCDC171', 'score': 13.61}, {'connected_gene': 'GC09P015957', 'score': 0.2}, {'connected_gene': 'GC09P016216', 'score': 0.08}]
chr9 GH09I016009 16009828 16011260 0.31 [{'connected_gene': 'CCDC171', 'score': 10.78}, {'connected_gene': 'GC09P015957', 'score': 0.23}, {'connected_gene': 'GC09P016216', 'score': 0.08}]
chr9 GH09I016061 16061879 16064360 1.1 [{'connected_gene': 'CCDC171', 'score': 5.04}, {'connected_gene': 'GC09P015957', 'score': 0.14}, {'connected_gene': 'GC09P016216', 'score': 0.1}]
chr9 GH09I016039 16039108 16041544 1.04 [{'connected_gene': 'CCDC171', 'score': 11.72}, {'connected_gene': 'GC09P015957', 'score': 0.18}, {'connected_gene': 'GC09P016216', 'score': 0.1}]
chr9 GH09I016028 16028111 16033482 0.93 [{'connected_gene': 'CCDC171', 'score': 12.57}, {'connected_gene': 'GC09P015957', 'score': 0.19}, {'connected_gene': 'GC09P016216', 'score': 0.09}]
chr9 GH09I016068 16068458 16071088 0.54 [{'connected_gene': 'CCDC171', 'score': 5.16}, {'connected_gene': 'GC09P015957', 'score': 0.14}, {'connected_gene': 'GC09P016216', 'score': 0.11}]
chr9 GH09I015508 15508114 15514050 2.25 [{'connected_gene': 'PSIP1', 'score': 558.28}, {'connected_gene': 'CCDC171', 'score': 7.78}, {'connected_gene': 'SNAPC3', 'score': 7.23}, {'connected_gene': 'ENSG00000278754', 'score': 0.39}]
chr9 GH09I015527 15527401 15527800 0.76 [{'connected_gene': 'RN7SL98P', 'score': 550.77}, {'connected_gene': 'PIR44810', 'score': 550.77}, {'connected_gene': 'GC09P015529', 'score': 550.77}, {'connected_gene': 'GC09M015546', 'score': 550.77}, {'connected_gene': 'FTH1P12', 'score': 550.77}, {'connected_gene': 'CCDC171', 'score': 8.46}]
chr9 GH09I016057 16057476 16059211 0.58 [{'connected_gene': 'GC09P015957', 'score': 0.15}, {'connected_gene': 'GC09P016216', 'score': 0.1}, {'connected_gene': 'CCDC171', 'score': 0.03}]
chr9 GH09I015872 15872550 15872836 0.4 [{'connected_gene': 'GC09M015849', 'score': 0.34}, {'connected_gene': 'GC09P015851', 'score': 0.34}, {'connected_gene': 'GC09M015920', 'score': 0.25}, {'connected_gene': 'CCDC171', 'score': 0.06}]
chr9 GH09I015935 15935843 15936906 1.26 [{'connected_gene': 'GC09P015935', 'score': 550.77}, {'connected_gene': 'CCDC171', 'score': 13.87}, {'connected_gene': 'GC09P015957', 'score': 0.34}]
chr9 GH09I016000 16000923 16001072 0.4 [{'connected_gene': 'GC09P015957', 'score': 0.26}, {'connected_gene': 'GC09P016216', 'score': 0.08}, {'connected_gene': 'CCDC171', 'score': 0.05}]
chr9 GH09I015874 15874186 15874530 0.71 [{'connected_gene': 'GC09M015849', 'score': 0.34}, {'connected_gene': 'GC09P015851', 'score': 0.34}, {'connected_gene': 'GC09M015920', 'score': 0.25}, {'connected_gene': 'CCDC171', 'score': 0.05}]
chr9 GH09I016025 16025513 16025886 0.22 [{'connected_gene': 'GC09P015957', 'score': 0.2}, {'connected_gene': 'GC09P016216', 'score': 0.08}, {'connected_gene': 'CCDC171', 'score': 0.04}]
chr9 GH09I015972 15972698 15973112 0.4 [{'connected_gene': 'GC09P015957', 'score': 0.37}, {'connected_gene': 'GC09P016216', 'score': 0.07}, {'connected_gene': 'CCDC171', 'score': 0.05}]
chr9 GH09I015696 15696888 15698208 0.66 [{'connected_gene': 'GC09M015596', 'score': 0.39}, {'connected_gene': 'GC09M015777', 'score': 0.18}, {'connected_gene': 'RNU6-14P', 'score': 0.18}, {'connected_gene': 'CCDC171', 'score': 0.11}]
chr9 GH09I015777 15777002 15777249 0.4 [{'connected_gene': 'GC09M015777', 'score': 550.77}, {'connected_gene': 'RNU6-14P', 'score': 550.77}, {'connected_gene': 'GC09P015851', 'score': 0.19}, {'connected_gene': 'CCDC171', 'score': 0.07}]
chr9 GH09I015728 15728038 15728379 0.4 [{'connected_gene': 'GC09M015596', 'score': 0.26}, {'connected_gene': 'GC09M015777', 'score': 0.25}, {'connected_gene': 'RNU6-14P', 'score': 0.25}, {'connected_gene': 'CCDC171', 'score': 0.1}]
chr9 GH09I015843 15843498 15844161 0.4 [{'connected_gene': 'GC09P015851', 'score': 0.44}, {'connected_gene': 'GC09M015777', 'score': 0.2}, {'connected_gene': 'RNU6-14P', 'score': 0.2}, {'connected_gene': 'CCDC171', 'score': 0.06}]