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
ENST00000382199 [[185361526, 185363411], [185364812, 185364926], [185367190, 185367322], [185369881, 185369956], [185375073, 185375190], [185376128, 185376197], [185390328, 185390457], [185393083, 185393219], [185393578, 185393701], [185404844, 185404979], [185407142, 185407415], [185410486, 185410550], [185414399, 185414451], [185416086, 185416135], [185540940, 185541001], [185542570, 185542844]] [[185363318, 185363411], [185364812, 185364926], [185367190, 185367322], [185369881, 185369956], [185375073, 185375190], [185376128, 185376197], [185390328, 185390457], [185393083, 185393219], [185393578, 185393701], [185404844, 185404979], [185407142, 185407415], [185410486, 185410550], [185414399, 185414451], [185416086, 185416135], [185540940, 185541001], [185542570, 185542748]]
ENST00000421047 [[185361589, 185363411], [185364812, 185364926], [185367190, 185367322], [185369881, 185369956], [185375073, 185375190], [185376128, 185376197], [185390328, 185390457], [185393083, 185393219], [185393578, 185393701], [185404844, 185404979], [185407142, 185407415], [185410486, 185410568], [185414399, 185414451], [185416086, 185416135], [185538799, 185538849]] [[185363318, 185363411], [185364812, 185364926], [185367190, 185367322], [185369881, 185369956], [185375073, 185375190], [185376128, 185376197], [185390328, 185390457], [185393083, 185393219], [185393578, 185393701], [185404844, 185404979], [185407142, 185407415], [185410486, 185410568], [185414399, 185414451], [185416086, 185416135], [185538799, 185538849]]
ENST00000457616 [[185361762, 185363411], [185364812, 185364926], [185367190, 185367322], [185369881, 185369956], [185375073, 185375190], [185376128, 185376197], [185390328, 185390457], [185393083, 185393219], [185393578, 185393701], [185404844, 185404979], [185407142, 185407415], [185410486, 185410568], [185414399, 185414451], [185416086, 185416135], [185540940, 185541001], [185542570, 185542800]] [[185363318, 185363411], [185364812, 185364926], [185367190, 185367322], [185369881, 185369956], [185375073, 185375190], [185376128, 185376197], [185390328, 185390457], [185393083, 185393219], [185393578, 185393701], [185404844, 185404979], [185407142, 185407415], [185410486, 185410568], [185414399, 185414451], [185416086, 185416135], [185540940, 185541001], [185542570, 185542748]]
ENST00000346192 [[185361762, 185363411], [185364812, 185364926], [185367190, 185367322], [185369881, 185369956], [185375073, 185375190], [185376128, 185376197], [185393083, 185393219], [185393578, 185393701], [185404844, 185404979], [185407142, 185407415], [185410486, 185410550], [185414399, 185414451], [185416086, 185416135], [185540940, 185541001], [185542570, 185542812]] [[185363318, 185363411], [185364812, 185364926], [185367190, 185367322], [185369881, 185369956], [185375073, 185375190], [185376128, 185376197], [185393083, 185393219], [185393578, 185393701], [185404844, 185404979], [185407142, 185407415], [185410486, 185410550], [185414399, 185414451], [185416086, 185416135], [185540940, 185541001], [185542570, 185542748]]
ENST00000461957 [[185407242, 185407415], [185410486, 185410550], [185410964, 185411016], [185414399, 185414451], [185416086, 185416135], [185540940, 185541059]] None
ENST00000493302 [[185407342, 185407415], [185410486, 185410550], [185414399, 185414451], [185416086, 185416135], [185538799, 185538919]] None
ENST00000466476 [[185414202, 185414451], [185416086, 185416135], [185540940, 185541001], [185542570, 185542680]] None
ENST00000464166 [[185364667, 185364926], [185367190, 185367311]] None
ENST00000494906 [[185367190, 185367322], [185369881, 185369956], [185375073, 185375190], [185376128, 185376197], [185393083, 185393219], [185393578, 185393701], [185404844, 185404979], [185406895, 185407026]] None
ENST00000496495 [[185392803, 185393219], [185393578, 185393634]] None
ENST00000466214 [[185531842, 185531888], [185538799, 185538891]] None
NM_001291872 [[185360918, 185363411], [185364812, 185364926], [185367190, 185367322], [185369881, 185369956], [185375073, 185375190], [185376128, 185376197], [185390328, 185390457], [185393083, 185393219], [185393578, 185393701], [185404844, 185404979], [185407142, 185407415], [185410486, 185410568], [185414399, 185414451], [185416086, 185416135], [185538799, 185538919]] [[185363318, 185363411], [185364812, 185364926], [185367190, 185367322], [185369881, 185369956], [185375073, 185375190], [185376128, 185376197], [185390328, 185390457], [185393083, 185393219], [185393578, 185393701], [185404844, 185404979], [185407142, 185407415], [185410486, 185410568], [185414399, 185414451], [185416086, 185416135], [185538799, 185538849]]
NM_001291873 [[185360918, 185363411], [185364812, 185364926], [185367190, 185367322], [185369881, 185369956], [185375073, 185375190], [185376128, 185376197], [185390328, 185390457], [185393083, 185393219], [185393578, 185393701], [185404844, 185404979], [185407142, 185407415], [185410486, 185410550], [185414399, 185414451], [185416086, 185416135], [185538799, 185538919]] [[185363318, 185363411], [185364812, 185364926], [185367190, 185367322], [185369881, 185369956], [185375073, 185375190], [185376128, 185376197], [185390328, 185390457], [185393083, 185393219], [185393578, 185393701], [185404844, 185404979], [185407142, 185407415], [185410486, 185410550], [185414399, 185414451], [185416086, 185416135], [185538799, 185538849]]
NM_001291874 [[185360918, 185363411], [185364812, 185364926], [185367190, 185367322], [185369881, 185369956], [185375073, 185375190], [185376128, 185376197], [185393083, 185393219], [185393578, 185393701], [185404844, 185404979], [185407142, 185407415], [185410486, 185410550], [185414399, 185414451], [185416086, 185416135], [185538799, 185538919]] [[185363318, 185363411], [185364812, 185364926], [185367190, 185367322], [185369881, 185369956], [185375073, 185375190], [185376128, 185376197], [185393083, 185393219], [185393578, 185393701], [185404844, 185404979], [185407142, 185407415], [185410486, 185410550], [185414399, 185414451], [185416086, 185416135], [185538799, 185538849]]
NM_001291875 [[185360918, 185363411], [185364812, 185364926], [185367190, 185367322], [185369881, 185369956], [185375073, 185375190], [185376128, 185376197], [185390328, 185390457], [185393083, 185393219], [185393578, 185393701], [185404844, 185404979], [185407142, 185407415], [185414399, 185414451], [185416086, 185416135], [185538799, 185538919]] [[185363318, 185363411], [185364812, 185364926], [185367190, 185367322], [185369881, 185369956], [185375073, 185375190], [185376128, 185376197], [185390328, 185390457], [185393083, 185393219], [185393578, 185393701], [185404844, 185404979], [185407142, 185407411]]
NM_001291869 [[185360918, 185363411], [185364812, 185364926], [185367190, 185367322], [185369881, 185369956], [185375073, 185375190], [185376128, 185376197], [185390328, 185390457], [185393083, 185393219], [185393578, 185393701], [185404844, 185404979], [185407142, 185407415], [185410486, 185410568], [185414399, 185414451], [185416086, 185416135], [185540940, 185541001], [185542570, 185542844]] [[185363318, 185363411], [185364812, 185364926], [185367190, 185367322], [185369881, 185369956], [185375073, 185375190], [185376128, 185376197], [185390328, 185390457], [185393083, 185393219], [185393578, 185393701], [185404844, 185404979], [185407142, 185407415], [185410486, 185410568], [185414399, 185414451], [185416086, 185416135], [185540940, 185541001], [185542570, 185542748]]
NM_006548 [[185360918, 185363411], [185364812, 185364926], [185367190, 185367322], [185369881, 185369956], [185375073, 185375190], [185376128, 185376197], [185390328, 185390457], [185393083, 185393219], [185393578, 185393701], [185404844, 185404979], [185407142, 185407415], [185410486, 185410550], [185414399, 185414451], [185416086, 185416135], [185540940, 185541001], [185542570, 185542844]] [[185363318, 185363411], [185364812, 185364926], [185367190, 185367322], [185369881, 185369956], [185375073, 185375190], [185376128, 185376197], [185390328, 185390457], [185393083, 185393219], [185393578, 185393701], [185404844, 185404979], [185407142, 185407415], [185410486, 185410550], [185414399, 185414451], [185416086, 185416135], [185540940, 185541001], [185542570, 185542748]]
NM_001007225 [[185360918, 185363411], [185364812, 185364926], [185367190, 185367322], [185369881, 185369956], [185375073, 185375190], [185376128, 185376197], [185393083, 185393219], [185393578, 185393701], [185404844, 185404979], [185407142, 185407415], [185410486, 185410550], [185414399, 185414451], [185416086, 185416135], [185540940, 185541001], [185542570, 185542844]] [[185363318, 185363411], [185364812, 185364926], [185367190, 185367322], [185369881, 185369956], [185375073, 185375190], [185376128, 185376197], [185393083, 185393219], [185393578, 185393701], [185404844, 185404979], [185407142, 185407415], [185410486, 185410550], [185414399, 185414451], [185416086, 185416135], [185540940, 185541001], [185542570, 185542748]]
NR_138486 [[185360918, 185362375], [185363129, 185363411], [185364812, 185364926], [185367190, 185367322], [185369881, 185369956], [185375073, 185375190], [185376128, 185376197], [185393083, 185393219], [185393578, 185393701], [185404844, 185404979], [185407142, 185407415], [185410486, 185410550], [185414399, 185414451], [185416086, 185416135], [185540940, 185541001], [185542570, 185542844]] None
Promoter
Chrom Start End Description
chr3 185406993 185406998 CAGE_peak_29_at_IGF2BP2_5end
chr3 185406999 185407012 CAGE_peak_22_at_IGF2BP2_5end
chr3 185538880 185538935 CAGE_peak_3_at_IGF2BP2_5end
chr3 185541195 185541206 CAGE_peak_13_at_IGF2BP2_5end
chr3 185542761 185542813 CAGE_peak_1_at_IGF2BP2_5end
chr3 185542817 185542841 CAGE_peak_2_at_IGF2BP2_5end
chr3 185542968 185542992 CAGE_peak_4_at_IGF2BP2_5end
chr3 185542995 185543020 CAGE_peak_5_at_IGF2BP2_5end
chr3 185543085 185543126 CAGE_peak_6_at_IGF2BP2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I185814 185814867 185816822 1.2 [{'connected_gene': 'IGF2BP2-AS1', 'score': 10.69}, {'connected_gene': 'TRA2B', 'score': 9.67}, {'connected_gene': 'IGF2BP2', 'score': 6.63}, {'connected_gene': 'MIR548AQ', 'score': 0.25}]
chr3 GH03I185712 185712371 185713809 0.79 [{'connected_gene': 'IGF2BP2-AS1', 'score': 550.77}, {'connected_gene': 'VPS8', 'score': 4.88}, {'connected_gene': 'MIR548AQ', 'score': 0.23}, {'connected_gene': 'IGF2BP2', 'score': 0.14}]
chr3 GH03I185744 185744344 185747576 1.32 [{'connected_gene': 'IGF2BP2-AS1', 'score': 11.55}, {'connected_gene': 'VPS8', 'score': 4.25}, {'connected_gene': 'MIR548AQ', 'score': 0.34}, {'connected_gene': 'IGF2BP2', 'score': 0.18}]
chr3 GH03I185779 185779263 185780101 0.38 [{'connected_gene': 'IGF2BP2-AS1', 'score': 10.66}, {'connected_gene': 'IGF2BP2', 'score': 5.95}, {'connected_gene': 'MIR548AQ', 'score': 0.39}]
chr3 GH03I185773 185773665 185774343 0.72 [{'connected_gene': 'IGF2BP2-AS1', 'score': 11.97}, {'connected_gene': 'IGF2BP2', 'score': 11.49}, {'connected_gene': 'MIR548AQ', 'score': 0.44}]
chr3 GH03I185694 185694200 185694601 0.2 [{'connected_gene': 'IGF2BP2-AS1', 'score': 0.37}, {'connected_gene': 'PIR53085', 'score': 0.23}, {'connected_gene': 'IGF2BP2', 'score': 0.12}]
chr3 GH03I185687 185687089 185690216 1.12 [{'connected_gene': 'IGF2BP2-AS1', 'score': 12.51}, {'connected_gene': 'IGF2BP2', 'score': 11.73}, {'connected_gene': 'PIR53085', 'score': 0.25}]
chr3 GH03I185711 185711265 185712274 0.83 [{'connected_gene': 'IGF2BP2-AS1', 'score': 550.77}, {'connected_gene': 'PIR53085', 'score': 0.19}, {'connected_gene': 'IGF2BP2', 'score': 0.14}]
chr3 GH03I185749 185749674 185750722 0.59 [{'connected_gene': 'IGF2BP2-AS1', 'score': 11.43}, {'connected_gene': 'MIR548AQ', 'score': 0.37}, {'connected_gene': 'IGF2BP2', 'score': 0.19}]
chr3 GH03I185760 185760401 185760800 0.4 [{'connected_gene': 'IGF2BP2-AS1', 'score': 11.39}, {'connected_gene': 'MIR548AQ', 'score': 0.44}, {'connected_gene': 'IGF2BP2', 'score': 0.21}]
chr3 GH03I185716 185716257 185719278 1.03 [{'connected_gene': 'IGF2BP2-AS1', 'score': 0.44}, {'connected_gene': 'MIR548AQ', 'score': 0.23}, {'connected_gene': 'IGF2BP2', 'score': 0.14}]
chr3 GH03I185755 185755013 185755202 0.43 [{'connected_gene': 'IGF2BP2-AS1', 'score': 12.03}, {'connected_gene': 'MIR548AQ', 'score': 0.39}, {'connected_gene': 'IGF2BP2', 'score': 0.2}]
chr3 GH03I185753 185753473 185753622 0.68 [{'connected_gene': 'IGF2BP2-AS1', 'score': 11.41}, {'connected_gene': 'MIR548AQ', 'score': 0.39}, {'connected_gene': 'IGF2BP2', 'score': 0.19}]
chr3 GH03I185762 185762747 185765693 1.09 [{'connected_gene': 'IGF2BP2-AS1', 'score': 11.52}, {'connected_gene': 'MIR548AQ', 'score': 0.77}, {'connected_gene': 'IGF2BP2', 'score': 0.21}]
chr3 GH03I185714 185714642 185716117 0.83 [{'connected_gene': 'IGF2BP2-AS1', 'score': 0.77}, {'connected_gene': 'MIR548AQ', 'score': 0.23}, {'connected_gene': 'IGF2BP2', 'score': 0.14}]
chr3 GH03I185757 185757576 185759857 0.76 [{'connected_gene': 'IGF2BP2-AS1', 'score': 11.39}, {'connected_gene': 'MIR548AQ', 'score': 0.44}, {'connected_gene': 'IGF2BP2', 'score': 0.2}]
chr3 GH03I185701 185701527 185705405 1.29 [{'connected_gene': 'TRA2B', 'score': 9.59}, {'connected_gene': 'IGF2BP2-AS1', 'score': 0.44}, {'connected_gene': 'PIR53085', 'score': 0.21}, {'connected_gene': 'IGF2BP2', 'score': 0.13}]
chr3 GH03I185807 185807223 185808422 1.32 [{'connected_gene': 'TRA2B', 'score': 14.59}, {'connected_gene': 'SNORA4', 'score': 14.43}, {'connected_gene': 'TBCCD1', 'score': 12.77}, {'connected_gene': 'RFC4', 'score': 11.94}, {'connected_gene': 'SNORA81', 'score': 11.8}, {'connected_gene': 'ENSG00000200418', 'score': 10.49}, {'connected_gene': 'SNORA63', 'score': 9.68}, {'connected_gene': 'IGF2BP2', 'score': 6.82}, {'connected_gene': 'MIR548AQ', 'score': 0.28}]
chr3 GH03I185933 185933562 185938717 2.3 [{'connected_gene': 'TRA2B', 'score': 596.45}, {'connected_gene': 'TBCCD1', 'score': 25.0}, {'connected_gene': 'RFC4', 'score': 11.46}, {'connected_gene': 'ENSG00000200418', 'score': 10.26}, {'connected_gene': 'SNORA4', 'score': 9.96}, {'connected_gene': 'NMRAL2P', 'score': 4.51}, {'connected_gene': 'IGF2BP2', 'score': 0.14}]
chr3 GH03I185723 185723658 185738874 1.61 [{'connected_gene': 'TRA2B', 'score': 9.71}, {'connected_gene': 'VPS8', 'score': 4.82}, {'connected_gene': 'IGF2BP2-AS1', 'score': 0.37}, {'connected_gene': 'MIR548AQ', 'score': 0.28}, {'connected_gene': 'IGF2BP2', 'score': 0.16}]
chr3 GH03I185818 185818401 185818600 0.49 [{'connected_gene': 'TRA2B', 'score': 9.46}, {'connected_gene': 'IGF2BP2', 'score': 6.31}, {'connected_gene': 'MIR548AQ', 'score': 0.23}]
chr3 GH03I185930 185930673 185930739 0.4 [{'connected_gene': 'TRA2B', 'score': 0.44}, {'connected_gene': 'IGF2BP2', 'score': 0.14}]
chr3 GH03I185900 185900193 185900800 1.07 [{'connected_gene': 'TRA2B', 'score': 0.28}, {'connected_gene': 'IGF2BP2', 'score': 0.18}]
chr3 GH03I185907 185907201 185908082 0.87 [{'connected_gene': 'TRA2B', 'score': 10.8}, {'connected_gene': 'IGF2BP2', 'score': 0.18}]
chr3 GH03I185931 185931508 185933294 1.19 [{'connected_gene': 'TRA2B', 'score': 0.44}, {'connected_gene': 'IGF2BP2', 'score': 0.14}]
chr3 GH03I185926 185926386 185930653 1.12 [{'connected_gene': 'TRA2B', 'score': 0.44}, {'connected_gene': 'IGF2BP2', 'score': 0.15}]
chr3 GH03I185915 185915116 185916501 0.54 [{'connected_gene': 'TRA2B', 'score': 12.22}, {'connected_gene': 'IGF2BP2', 'score': 0.16}]
chr3 GH03I185676 185676853 185677805 0.83 [{'connected_gene': 'IGF2BP2', 'score': 11.63}, {'connected_gene': 'IGF2BP2-AS1', 'score': 11.6}, {'connected_gene': 'EHHADH', 'score': 4.38}, {'connected_gene': 'PIR53085', 'score': 0.28}]
chr3 GH03I185795 185795271 185798690 1.33 [{'connected_gene': 'IGF2BP2', 'score': 18.7}, {'connected_gene': 'IGF2BP2-AS1', 'score': 10.67}, {'connected_gene': 'MIR548AQ', 'score': 0.31}]
chr3 GH03I185819 185819610 185826933 2.22 [{'connected_gene': 'IGF2BP2', 'score': 556.81}, {'connected_gene': 'IGF2BP2-AS1', 'score': 10.01}, {'connected_gene': 'MIR548AQ', 'score': 0.22}]
chr3 GH03I185837 185837573 185837576 0.54 [{'connected_gene': 'IGF2BP2', 'score': 0.39}, {'connected_gene': 'TRA2B', 'score': 0.15}]
chr3 GH03I185831 185831293 185831442 0.54 [{'connected_gene': 'IGF2BP2', 'score': 0.44}, {'connected_gene': 'TRA2B', 'score': 0.14}]
chr3 GH03I185789 185789150 185789653 0.38 [{'connected_gene': 'IGF2BP2', 'score': 6.08}, {'connected_gene': 'MIR548AQ', 'score': 0.34}]
chr3 GH03I185785 185785496 185788148 0.66 [{'connected_gene': 'IGF2BP2', 'score': 6.75}, {'connected_gene': 'MIR548AQ', 'score': 0.37}]
chr3 GH03I185811 185811252 185814603 1.33 [{'connected_gene': 'IGF2BP2', 'score': 6.6}, {'connected_gene': 'MIR548AQ', 'score': 0.25}]
chr3 GH03I185768 185768613 185768762 0.89 [{'connected_gene': 'MIR548AQ', 'score': 550.77}, {'connected_gene': 'TRA2B', 'score': 17.9}, {'connected_gene': 'TBCCD1', 'score': 16.58}, {'connected_gene': 'IGF2BP2-AS1', 'score': 11.99}, {'connected_gene': 'IGF2BP2', 'score': 11.48}]
chr3 GH03I185766 185766801 185767199 0.58 [{'connected_gene': 'MIR548AQ', 'score': 550.77}, {'connected_gene': 'IGF2BP2', 'score': 11.43}, {'connected_gene': 'IGF2BP2-AS1', 'score': 11.29}]
chr3 GH03I185794 185794003 185794323 0.2 [{'connected_gene': 'MIR548AQ', 'score': 0.31}, {'connected_gene': 'IGF2BP2', 'score': 0.29}]
chr3 GH03I185781 185781793 185782002 0.66 [{'connected_gene': 'MIR548AQ', 'score': 0.39}, {'connected_gene': 'IGF2BP2', 'score': 0.26}]
chr3 GH03I185654 185654289 185661217 1.31 [{'connected_gene': 'PIR53085', 'score': 0.37}, {'connected_gene': 'IGF2BP2-AS1', 'score': 0.23}, {'connected_gene': 'IGF2BP2', 'score': 0.1}]

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