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
ENST00000550385 [[102090724, 102090806], [102107867, 102108015], [102108281, 102108423], [102108661, 102108854], [102110505, 102110590], [102113900, 102114004]] None
ENST00000229266 [[102091404, 102091912], [102107867, 102108015], [102108281, 102108423], [102110505, 102110590], [102113900, 102114032], [102116945, 102117104], [102117499, 102117625], [102120071, 102120182], [102122678, 102122852]] [[102091639, 102091912], [102107867, 102108015], [102108281, 102108423], [102110505, 102110590], [102113900, 102114032], [102116945, 102117104], [102117499, 102117625], [102120071, 102120182], [102122678, 102122723]]
ENST00000549872 [[102091449, 102091912], [102107867, 102108015], [102108281, 102108423], [102110505, 102110590], [102113900, 102114032], [102116945, 102117104], [102117499, 102117625], [102120071, 102120805]] [[102091639, 102091912], [102107867, 102108015], [102108281, 102108423], [102110505, 102110590], [102113900, 102114032], [102116945, 102117104], [102117499, 102117625], [102120071, 102120203]]
ENST00000549128 [[102091469, 102091912], [102107867, 102108015], [102108281, 102108423], [102110505, 102110590], [102113900, 102114032], [102116945, 102117104], [102117499, 102117625], [102120071, 102120279], [102122685, 102122794]] [[102091639, 102091912], [102107867, 102108015], [102108281, 102108423], [102110505, 102110590], [102113900, 102114032], [102116945, 102117104], [102117499, 102117625], [102120071, 102120203]]
ENST00000552351 [[102091469, 102091912], [102107867, 102108015], [102108281, 102108423], [102110505, 102110590], [102113267, 102113294], [102113900, 102114032], [102116945, 102117104], [102117499, 102117625], [102120071, 102120182], [102122678, 102122829]] [[102091639, 102091912], [102107867, 102108015], [102108281, 102108423], [102110505, 102110590], [102113267, 102113276]]
ENST00000546490 [[102091631, 102091912], [102107867, 102108062]] None
ENST00000552215 [[102091742, 102091912], [102107867, 102108015], [102108281, 102108423], [102110505, 102110590], [102113267, 102113294], [102113900, 102114032], [102116945, 102117104], [102117499, 102117625], [102120071, 102123424]] [[102091742, 102091912], [102107867, 102108015], [102108281, 102108423], [102110505, 102110590], [102113267, 102113276]]
ENST00000552329 [[102108305, 102108423], [102110505, 102110590], [102111014, 102111172], [102113900, 102114032], [102116945, 102117032]] [[102108305, 102108423], [102110505, 102110590], [102111014, 102111095]]
ENST00000546873 [[102120100, 102120182], [102124298, 102124414], [102137492, 102137918]] [[102120100, 102120182], [102124298, 102124331]]
ENST00000552213 [[102133355, 102133547], [102136174, 102136284], [102137492, 102137788]] None
NM_020244 [[102091416, 102091912], [102107867, 102108015], [102108281, 102108423], [102110505, 102110590], [102113900, 102114032], [102116945, 102117104], [102117499, 102117625], [102120071, 102120182], [102122678, 102122846]] [[102091639, 102091912], [102107867, 102108015], [102108281, 102108423], [102110505, 102110590], [102113900, 102114032], [102116945, 102117104], [102117499, 102117625], [102120071, 102120182], [102122678, 102122723]]
Promoter
Chrom Start End Description
chr12 102091093 102091104 CAGE_peak_13_at_CHPT1_5end
chr12 102091273 102091317 CAGE_peak_2_at_CHPT1_5end
chr12 102091400 102091487 CAGE_peak_1_at_CHPT1_5end
chr12 102091490 102091493 CAGE_peak_8_at_CHPT1_5end
chr12 102091519 102091531 CAGE_peak_5_at_CHPT1_5end
chr12 102091558 102091569 CAGE_peak_4_at_CHPT1_5end
chr12 102091628 102091635 CAGE_peak_6_at_CHPT1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I101917 101917600 101918200 1.19 [{'connected_gene': 'GNPTAB', 'score': 9.57}, {'connected_gene': 'CHPT1', 'score': 5.32}, {'connected_gene': 'DRAM1', 'score': 4.54}, {'connected_gene': 'PIR46358', 'score': 0.44}]
chr12 GH12I101712 101712429 101716118 1.3 [{'connected_gene': 'GNPTAB', 'score': 26.35}, {'connected_gene': 'CHPT1', 'score': 22.62}, {'connected_gene': 'SYCP3', 'score': 11.35}, {'connected_gene': 'RNU6-101P', 'score': 11.09}, {'connected_gene': 'RNA5SP369', 'score': 10.11}, {'connected_gene': 'GC12P101721', 'score': 0.44}]
chr12 GH12I101821 101821817 101826400 0.93 [{'connected_gene': 'GNPTAB', 'score': 15.46}, {'connected_gene': 'CHPT1', 'score': 14.73}, {'connected_gene': 'RNU6-172P', 'score': 0.31}]
chr12 GH12I101806 101806201 101806600 0.38 [{'connected_gene': 'GNPTAB', 'score': 15.04}, {'connected_gene': 'CHPT1', 'score': 13.21}, {'connected_gene': 'RNU6-172P', 'score': 0.44}]
chr12 GH12I101828 101828144 101831470 1.94 [{'connected_gene': 'GNPTAB', 'score': 567.23}, {'connected_gene': 'CHPT1', 'score': 19.18}, {'connected_gene': 'RNU6-172P', 'score': 0.29}]
chr12 GH12I101791 101791683 101794228 1.3 [{'connected_gene': 'GNPTAB', 'score': 41.49}, {'connected_gene': 'CHPT1', 'score': 15.21}, {'connected_gene': 'RNA5SP369', 'score': 12.07}, {'connected_gene': 'SYCP3', 'score': 9.6}, {'connected_gene': 'DRAM1', 'score': 1.38}, {'connected_gene': 'RNU6-172P', 'score': 0.77}, {'connected_gene': 'RNA5SP368', 'score': 0.39}]
chr12 GH12I101776 101776556 101778373 0.63 [{'connected_gene': 'GNPTAB', 'score': 21.12}, {'connected_gene': 'CHPT1', 'score': 20.72}, {'connected_gene': 'RNA5SP369', 'score': 12.52}, {'connected_gene': 'GC12P101780', 'score': 0.77}, {'connected_gene': 'ST13P22', 'score': 0.77}]
chr12 GH12I101894 101894349 101895611 1.02 [{'connected_gene': 'GNPTAB', 'score': 22.3}, {'connected_gene': 'RNU6-1183P', 'score': 13.12}, {'connected_gene': 'RNA5SP369', 'score': 11.5}, {'connected_gene': 'RNU6-101P', 'score': 10.69}, {'connected_gene': 'CHPT1', 'score': 7.5}, {'connected_gene': 'DRAM1', 'score': 5.99}, {'connected_gene': 'PIR46358', 'score': 0.31}]
chr12 GH12I101775 101775765 101776300 0.54 [{'connected_gene': 'GNPTAB', 'score': 12.53}, {'connected_gene': 'RNA5SP369', 'score': 12.51}, {'connected_gene': 'CHPT1', 'score': 9.11}, {'connected_gene': 'GC12P101780', 'score': 0.77}, {'connected_gene': 'ST13P22', 'score': 0.77}]
chr12 GH12I101907 101907781 101910400 1.27 [{'connected_gene': 'GNPTAB', 'score': 20.89}, {'connected_gene': 'RNA5SP369', 'score': 10.45}, {'connected_gene': 'SYCP3', 'score': 9.67}, {'connected_gene': 'DRAM1', 'score': 9.12}, {'connected_gene': 'CHPT1', 'score': 9.01}, {'connected_gene': 'PIR46358', 'score': 0.39}]
chr12 GH12I101827 101827001 101827399 0.49 [{'connected_gene': 'CHPT1', 'score': 13.75}, {'connected_gene': 'GNPTAB', 'score': 0.77}, {'connected_gene': 'RNU6-172P', 'score': 0.29}]
chr12 GH12I101826 101826700 101826980 0.56 [{'connected_gene': 'CHPT1', 'score': 20.58}, {'connected_gene': 'GNPTAB', 'score': 0.77}, {'connected_gene': 'RNU6-172P', 'score': 0.29}]
chr12 GH12I101742 101742227 101745478 0.89 [{'connected_gene': 'CHPT1', 'score': 38.4}, {'connected_gene': 'GNPTAB', 'score': 20.67}, {'connected_gene': 'RNA5SP369', 'score': 10.35}, {'connected_gene': 'SYCP3', 'score': 0.77}, {'connected_gene': 'GC12P101765', 'score': 0.34}]
chr12 GH12I101695 101695230 101702145 2.47 [{'connected_gene': 'CHPT1', 'score': 591.32}, {'connected_gene': 'ARL1', 'score': 11.05}, {'connected_gene': 'GNPTAB', 'score': 5.37}, {'connected_gene': 'ENSG00000274560', 'score': 0.77}, {'connected_gene': 'GC12P101721', 'score': 0.34}]
chr12 GH12I101628 101628124 101629497 0.58 [{'connected_gene': 'CHPT1', 'score': 17.42}, {'connected_gene': 'SYCP3', 'score': 10.33}, {'connected_gene': 'MYBPC1', 'score': 10.27}, {'connected_gene': 'GC12P101636', 'score': 0.44}, {'connected_gene': 'LOC105369938', 'score': 0.44}]
chr12 GH12I101566 101565546 101567086 0.76 [{'connected_gene': 'CHPT1', 'score': 10.4}, {'connected_gene': 'SYCP3', 'score': 9.61}, {'connected_gene': 'MYBPC1', 'score': 0.77}, {'connected_gene': 'LOC105369935', 'score': 0.28}]
chr12 GH12I101561 101561343 101564238 0.31 [{'connected_gene': 'CHPT1', 'score': 10.4}, {'connected_gene': 'SYCP3', 'score': 9.61}, {'connected_gene': 'MYBPC1', 'score': 0.44}, {'connected_gene': 'LOC105369935', 'score': 0.28}]
chr12 GH12I101565 101565023 101565172 0.38 [{'connected_gene': 'CHPT1', 'score': 10.4}, {'connected_gene': 'SYCP3', 'score': 9.61}, {'connected_gene': 'MYBPC1', 'score': 0.77}, {'connected_gene': 'LOC105369935', 'score': 0.28}]
chr12 GH12I101595 101594703 101594852 0.66 [{'connected_gene': 'CHPT1', 'score': 14.14}, {'connected_gene': 'MYBPC1', 'score': 10.9}, {'connected_gene': 'SYCP3', 'score': 10.56}, {'connected_gene': 'LOC105369938', 'score': 0.34}]
chr12 GH12I101613 101613002 101614044 0.2 [{'connected_gene': 'CHPT1', 'score': 17.23}, {'connected_gene': 'MYBPC1', 'score': 10.56}, {'connected_gene': 'RNU6-101P', 'score': 10.41}, {'connected_gene': 'SYCP3', 'score': 9.98}, {'connected_gene': 'LOC105369938', 'score': 0.44}]
chr12 GH12I101606 101606859 101610174 1.14 [{'connected_gene': 'CHPT1', 'score': 15.41}, {'connected_gene': 'MYBPC1', 'score': 10.58}, {'connected_gene': 'RNU6-101P', 'score': 10.41}, {'connected_gene': 'SYCP3', 'score': 9.97}, {'connected_gene': 'LOC105369936', 'score': 5.76}, {'connected_gene': 'LOC105369938', 'score': 0.39}]
chr12 GH12I101582 101582479 101585217 0.4 [{'connected_gene': 'CHPT1', 'score': 11.08}, {'connected_gene': 'SPIC', 'score': 10.53}, {'connected_gene': 'RNA5SP367', 'score': 10.53}, {'connected_gene': 'RNU5E-5P', 'score': 10.52}, {'connected_gene': 'SYCP3', 'score': 10.47}, {'connected_gene': 'RNU6-101P', 'score': 9.62}, {'connected_gene': 'MYBPC1', 'score': 0.37}, {'connected_gene': 'LOC105369938', 'score': 0.29}]
chr12 GH12I101839 101839601 101839800 0.69 [{'connected_gene': 'CHPT1', 'score': 17.26}, {'connected_gene': 'RNU6-1183P', 'score': 12.35}, {'connected_gene': 'DRAM1', 'score': 12.33}, {'connected_gene': 'RNU6-101P', 'score': 11.23}, {'connected_gene': 'SYCP3', 'score': 10.2}, {'connected_gene': 'RNA5SP369', 'score': 0.77}]
chr12 GH12I101734 101734579 101738637 0.38 [{'connected_gene': 'CHPT1', 'score': 33.2}, {'connected_gene': 'RNU6-101P', 'score': 10.48}, {'connected_gene': 'GNPTAB', 'score': 6.1}, {'connected_gene': 'SYCP3', 'score': 0.77}, {'connected_gene': 'RNY1P16', 'score': 0.37}]
chr12 GH12I101725 101725470 101726555 0.2 [{'connected_gene': 'CHPT1', 'score': 17.29}, {'connected_gene': 'RNU6-101P', 'score': 10.9}, {'connected_gene': 'GNPTAB', 'score': 9.51}, {'connected_gene': 'RNY1P16', 'score': 0.44}, {'connected_gene': 'SYCP3', 'score': 0.39}]
chr12 GH12I101671 101671003 101672400 0.72 [{'connected_gene': 'CHPT1', 'score': 17.62}, {'connected_gene': 'LOC105369936', 'score': 15.61}, {'connected_gene': 'SYCP3', 'score': 10.6}, {'connected_gene': 'GC12P101665', 'score': 0.44}, {'connected_gene': 'ENSG00000274560', 'score': 0.34}, {'connected_gene': 'MYBPC1', 'score': 0.15}]
chr12 GH12I101642 101642201 101642829 0.92 [{'connected_gene': 'CHPT1', 'score': 7.36}, {'connected_gene': 'GC12P101636', 'score': 0.44}, {'connected_gene': 'LOC105369936', 'score': 0.34}, {'connected_gene': 'MYBPC1', 'score': 0.19}]
chr12 GH12I101602 101602392 101603193 0.2 [{'connected_gene': 'CHPT1', 'score': 6.81}, {'connected_gene': 'LOC105369936', 'score': 5.87}, {'connected_gene': 'LOC105369938', 'score': 0.37}, {'connected_gene': 'MYBPC1', 'score': 0.29}]
chr12 GH12I101603 101603346 101605381 0.99 [{'connected_gene': 'CHPT1', 'score': 6.81}, {'connected_gene': 'LOC105369936', 'score': 4.59}, {'connected_gene': 'LOC105369938', 'score': 0.39}, {'connected_gene': 'MYBPC1', 'score': 0.28}]
chr12 GH12I101691 101690783 101690952 0.58 [{'connected_gene': 'CHPT1', 'score': 34.44}, {'connected_gene': 'ENSG00000274560', 'score': 0.44}, {'connected_gene': 'GC12P101665', 'score': 0.31}]
chr12 GH12I101888 101888800 101893895 1.41 [{'connected_gene': 'DRAM1', 'score': 28.19}, {'connected_gene': 'GNPTAB', 'score': 24.15}, {'connected_gene': 'CHPT1', 'score': 12.03}, {'connected_gene': 'RNA5SP369', 'score': 11.51}, {'connected_gene': 'RNU6-101P', 'score': 10.69}, {'connected_gene': 'PIR46358', 'score': 0.29}]
chr12 GH12I101858 101858945 101861228 1.27 [{'connected_gene': 'DRAM1', 'score': 23.56}, {'connected_gene': 'CHPT1', 'score': 15.24}, {'connected_gene': 'GNPTAB', 'score': 11.54}, {'connected_gene': 'RNU6-1183P', 'score': 0.39}, {'connected_gene': 'RNA5SP369', 'score': 0.34}]
chr12 GH12I101854 101854169 101858205 1.49 [{'connected_gene': 'DRAM1', 'score': 17.55}, {'connected_gene': 'CHPT1', 'score': 11.5}, {'connected_gene': 'GNPTAB', 'score': 8.88}, {'connected_gene': 'RNU6-1183P', 'score': 0.37}, {'connected_gene': 'RNA5SP369', 'score': 0.37}]
chr12 GH12I101875 101875119 101879576 2.38 [{'connected_gene': 'DRAM1', 'score': 577.07}, {'connected_gene': 'ENSG00000257222', 'score': 13.24}, {'connected_gene': 'CHPT1', 'score': 13.14}, {'connected_gene': 'UTP20', 'score': 10.32}, {'connected_gene': 'PARPBP', 'score': 9.8}, {'connected_gene': 'GNPTAB', 'score': 9.8}, {'connected_gene': 'PIR46358', 'score': 0.25}]
chr12 GH12I101844 101844204 101844596 0.58 [{'connected_gene': 'DRAM1', 'score': 18.04}, {'connected_gene': 'RNU6-1183P', 'score': 13.07}, {'connected_gene': 'CHPT1', 'score': 9.84}, {'connected_gene': 'SYCP3', 'score': 9.8}, {'connected_gene': 'RNA5SP369', 'score': 0.44}]
chr12 GH12I101569 101569668 101571541 1.1 [{'connected_gene': 'SYCP3', 'score': 10.46}, {'connected_gene': 'CHPT1', 'score': 9.99}, {'connected_gene': 'MYBPC1', 'score': 0.77}, {'connected_gene': 'LOC105369938', 'score': 0.25}]
chr12 GH12I101739 101739452 101739511 0.61 [{'connected_gene': 'SYCP3', 'score': 550.77}, {'connected_gene': 'RNY1P16', 'score': 0.37}, {'connected_gene': 'CHPT1', 'score': 0.26}]
chr12 GH12I101707 101707222 101707412 1.02 [{'connected_gene': 'SYCP3', 'score': 10.72}, {'connected_gene': 'RNU6-101P', 'score': 10.12}, {'connected_gene': 'GC12P101721', 'score': 0.39}, {'connected_gene': 'CHPT1', 'score': 0.39}]
chr12 GH12I101709 101709418 101711478 0.69 [{'connected_gene': 'SYCP3', 'score': 10.92}, {'connected_gene': 'RNU6-101P', 'score': 10.84}, {'connected_gene': 'RNA5SP369', 'score': 9.85}, {'connected_gene': 'GNPTAB', 'score': 9.85}, {'connected_gene': 'CHPT1', 'score': 5.59}, {'connected_gene': 'GC12P101721', 'score': 0.44}]
chr12 GH12I101594 101594922 101594981 0.96 [{'connected_gene': 'MYBPC1', 'score': 560.9}, {'connected_gene': 'SYCP3', 'score': 10.56}, {'connected_gene': 'CHPT1', 'score': 10.14}, {'connected_gene': 'LOC105369938', 'score': 0.34}]
chr12 GH12I101596 101594307 101594646 0.4 [{'connected_gene': 'MYBPC1', 'score': 10.95}, {'connected_gene': 'SYCP3', 'score': 10.56}, {'connected_gene': 'CHPT1', 'score': 10.14}, {'connected_gene': 'LOC105369938', 'score': 0.34}]
chr12 GH12I101840 101839843 101840200 0.89 [{'connected_gene': 'RNU6-1183P', 'score': 12.35}, {'connected_gene': 'DRAM1', 'score': 12.33}, {'connected_gene': 'RNU6-101P', 'score': 11.23}, {'connected_gene': 'RNU6-172P', 'score': 10.57}, {'connected_gene': 'SYCP3', 'score': 10.2}, {'connected_gene': 'CHPT1', 'score': 9.8}, {'connected_gene': 'RNA5SP369', 'score': 0.77}]
chr12 GH12I101614 101614089 101620079 1.54 [{'connected_gene': 'LOC105369938', 'score': 550.77}, {'connected_gene': 'MYBPC1', 'score': 35.13}, {'connected_gene': 'CHPT1', 'score': 17.07}, {'connected_gene': 'RNU6-101P', 'score': 10.42}, {'connected_gene': 'SYCP3', 'score': 10.03}, {'connected_gene': 'LOC105369936', 'score': 9.15}]
chr12 GH12I101669 101669942 101670800 1.02 [{'connected_gene': 'LOC105369936', 'score': 18.24}, {'connected_gene': 'NUP37', 'score': 15.67}, {'connected_gene': 'ENSG00000257222', 'score': 12.52}, {'connected_gene': 'CHPT1', 'score': 12.51}, {'connected_gene': 'UTP20', 'score': 12.3}, {'connected_gene': 'SYCP3', 'score': 10.6}, {'connected_gene': 'GC12P101665', 'score': 0.44}, {'connected_gene': 'ENSG00000274560', 'score': 0.31}, {'connected_gene': 'MYBPC1', 'score': 0.15}]
chr12 GH12I101653 101653072 101654085 0.8 [{'connected_gene': 'LOC105369936', 'score': 37.9}, {'connected_gene': 'CHPT1', 'score': 11.79}, {'connected_gene': 'SYCP3', 'score': 10.37}, {'connected_gene': 'MYBPC1', 'score': 10.33}, {'connected_gene': 'GC12P101636', 'score': 0.37}]
chr12 GH12I101780 101780401 101781020 0.31 [{'connected_gene': 'RNA5SP368', 'score': 550.77}, {'connected_gene': 'GC12P101780', 'score': 550.77}, {'connected_gene': 'GNPTAB', 'score': 12.27}, {'connected_gene': 'RNA5SP369', 'score': 12.26}, {'connected_gene': 'SYCP3', 'score': 10.3}, {'connected_gene': 'CHPT1', 'score': 9.74}, {'connected_gene': 'RNU6-172P', 'score': 0.37}]
chr12 GH12I101929 101929915 101940421 1.61 [{'connected_gene': 'RPL9P24', 'score': 550.77}, {'connected_gene': 'GNPTAB', 'score': 15.23}, {'connected_gene': 'WASHC3', 'score': 10.53}, {'connected_gene': 'IGF1', 'score': 10.25}, {'connected_gene': 'RNA5SP369', 'score': 10.14}, {'connected_gene': 'RNU6-101P', 'score': 9.92}, {'connected_gene': 'SYCP3', 'score': 9.42}, {'connected_gene': 'DRAM1', 'score': 8.55}, {'connected_gene': 'CHPT1', 'score': 7.05}, {'connected_gene': 'GC12P101929', 'score': 0.44}]
chr12 GH12I101634 101634140 101635412 0.93 [{'connected_gene': 'GC12P101636', 'score': 550.77}, {'connected_gene': 'CHPT1', 'score': 18.33}, {'connected_gene': 'LOC105369936', 'score': 4.86}, {'connected_gene': 'LOC105369938', 'score': 0.37}, {'connected_gene': 'MYBPC1', 'score': 0.2}]
chr12 GH12I101922 101922380 101923718 0.6 [{'connected_gene': 'PIR46358', 'score': 550.77}, {'connected_gene': 'ENSG00000257202', 'score': 550.77}, {'connected_gene': 'DRAM1', 'score': 11.4}, {'connected_gene': 'CHPT1', 'score': 4.64}]
chr12 GH12I101771 101771515 101773531 0.66 [{'connected_gene': 'GC12M101774', 'score': 550.77}, {'connected_gene': 'ST13P22', 'score': 550.77}, {'connected_gene': 'GNPTAB', 'score': 29.85}, {'connected_gene': 'CHPT1', 'score': 21.75}, {'connected_gene': 'RNA5SP369', 'score': 12.05}, {'connected_gene': 'RNU6-1183P', 'score': 11.16}, {'connected_gene': 'DRAM1', 'score': 11.15}, {'connected_gene': 'SYCP3', 'score': 10.81}, {'connected_gene': 'RNU6-101P', 'score': 0.44}]
chr12 GH12I101924 101924313 101928600 1.1 [{'connected_gene': 'ENSG00000257202', 'score': 550.77}, {'connected_gene': 'GC12P101926', 'score': 550.77}, {'connected_gene': 'GC12P101925', 'score': 550.77}, {'connected_gene': 'RNA5SP369', 'score': 10.15}, {'connected_gene': 'GNPTAB', 'score': 10.14}, {'connected_gene': 'IGF1', 'score': 9.85}, {'connected_gene': 'SYCP3', 'score': 9.43}, {'connected_gene': 'DRAM1', 'score': 9.26}, {'connected_gene': 'CHPT1', 'score': 8.36}, {'connected_gene': 'GC12P101929', 'score': 0.77}]

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