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
ENST00000473185 [[203148058, 203149005], [203150289, 203151262]] None
ENST00000255409 [[203148058, 203148713], [203148888, 203149005], [203149597, 203149780], [203150289, 203150413], [203151858, 203151980], [203152768, 203152919], [203153703, 203153760], [203154311, 203154513], [203155443, 203155473], [203155726, 203155877]] [[203148572, 203148713], [203148888, 203149005], [203149597, 203149780], [203150289, 203150413], [203151858, 203151980], [203152768, 203152919], [203153703, 203153760], [203154311, 203154513], [203155443, 203155473], [203155726, 203155751]]
ENST00000404436 [[203148108, 203148713], [203148888, 203149005], [203150289, 203150413], [203151858, 203151933]] [[203148572, 203148713], [203148888, 203149005], [203150289, 203150413], [203151858, 203151933]]
ENST00000478742 [[203148261, 203148713], [203148888, 203149261]] None
ENST00000472064 [[203149125, 203149780], [203150289, 203150413], [203151858, 203151969]] None
NM_001276 [[203148058, 203148713], [203148888, 203149005], [203149597, 203149780], [203150289, 203150413], [203151858, 203151980], [203152768, 203152919], [203153703, 203153760], [203154311, 203154513], [203155443, 203155473], [203155726, 203155922]] [[203148572, 203148713], [203148888, 203149005], [203149597, 203149780], [203150289, 203150413], [203151858, 203151980], [203152768, 203152919], [203153703, 203153760], [203154311, 203154513], [203155443, 203155473], [203155726, 203155751]]
Promoter
Chrom Start End Description
chr1 203148394 203148401 CAGE_peak_10_at_CHI3L1_5end
chr1 203148428 203148437 CAGE_peak_11_at_CHI3L1_5end
chr1 203148455 203148477 CAGE_peak_5_at_CHI3L1_5end
chr1 203148495 203148505 CAGE_peak_13_at_CHI3L1_5end
chr1 203148522 203148550 CAGE_peak_4_at_CHI3L1_5end
chr1 203148612 203148623 CAGE_peak_12_at_CHI3L1_5end
chr1 203148919 203148937 CAGE_peak_16_at_CHI3L1_5end
chr1 203148938 203148988 CAGE_peak_6_at_CHI3L1_5end
chr1 203149716 203149729 CAGE_peak_19_at_CHI3L1_5end
chr1 203149741 203149762 CAGE_peak_14_at_CHI3L1_5end
chr1 203151897 203151908 CAGE_peak_15_at_CHI3L1_5end
chr1 203151934 203151947 CAGE_peak_7_at_CHI3L1_5end
chr1 203151964 203151973 CAGE_peak_21_at_CHI3L1_5end
chr1 203154342 203154363 CAGE_peak_9_at_CHI3L1_5end
chr1 203154383 203154466 CAGE_peak_3_at_CHI3L1_5end
chr1 203154486 203154506 CAGE_peak_8_at_CHI3L1_5end
chr1 203154508 203154518 CAGE_peak_20_at_CHI3L1_5end
chr1 203155823 203155838 CAGE_peak_1_at_CHI3L1_5end
chr1 203155868 203155882 CAGE_peak_2_at_CHI3L1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I203035 203035018 203041208 1.22 [{'connected_gene': 'ZC3H11A', 'score': 21.74}, {'connected_gene': 'HNRNPA1P59', 'score': 13.38}, {'connected_gene': 'MYOG', 'score': 11.63}, {'connected_gene': 'ADORA1', 'score': 11.61}, {'connected_gene': 'PPFIA4', 'score': 11.58}, {'connected_gene': 'MYBPH', 'score': 11.28}, {'connected_gene': 'CHI3L1', 'score': 10.99}, {'connected_gene': 'ZBED6', 'score': 10.96}, {'connected_gene': 'ENSG00000224671', 'score': 10.73}, {'connected_gene': 'KDM5B', 'score': 9.9}, {'connected_gene': 'OPTC', 'score': 9.55}, {'connected_gene': 'FMOD', 'score': 9.37}, {'connected_gene': 'LOC100131747', 'score': 9.37}, {'connected_gene': 'GC01P203013', 'score': 0.34}, {'connected_gene': 'LOC105371687', 'score': 0.31}]
chr1 GH01I203051 203051219 203052740 0.65 [{'connected_gene': 'PPFIA4', 'score': 18.3}, {'connected_gene': 'MYOG', 'score': 11.92}, {'connected_gene': 'ADORA1', 'score': 11.9}, {'connected_gene': 'MYBPH', 'score': 11.36}, {'connected_gene': 'CHI3L1', 'score': 11.13}, {'connected_gene': 'ENSG00000224671', 'score': 11.02}, {'connected_gene': 'FMOD', 'score': 9.52}, {'connected_gene': 'LOC100131747', 'score': 9.52}, {'connected_gene': 'ATP2B4', 'score': 9.37}, {'connected_gene': 'PRELP', 'score': 9.27}, {'connected_gene': 'LOC105371687', 'score': 0.37}, {'connected_gene': 'GC01P203013', 'score': 0.28}]
chr1 GH01I203057 203057515 203060400 0.72 [{'connected_gene': 'PPFIA4', 'score': 13.21}, {'connected_gene': 'MYOG', 'score': 12.01}, {'connected_gene': 'ADORA1', 'score': 11.99}, {'connected_gene': 'CHI3L1', 'score': 10.66}, {'connected_gene': 'LOC100131747', 'score': 9.74}, {'connected_gene': 'FMOD', 'score': 9.74}, {'connected_gene': 'LOC105371687', 'score': 0.44}, {'connected_gene': 'GC01P203013', 'score': 0.25}]
chr1 GH01I203032 203032582 203032641 0.5 [{'connected_gene': 'PPFIA4', 'score': 550.44}, {'connected_gene': 'ADORA1', 'score': 10.56}, {'connected_gene': 'ENSG00000224671', 'score': 10.46}, {'connected_gene': 'CHI3L1', 'score': 10.39}, {'connected_gene': 'CYB5R1', 'score': 9.36}, {'connected_gene': 'FMOD', 'score': 8.8}, {'connected_gene': 'LOC100131747', 'score': 8.8}, {'connected_gene': 'PRELP', 'score': 8.65}, {'connected_gene': 'GC01P203013', 'score': 0.37}, {'connected_gene': 'LOC105371687', 'score': 0.28}]
chr1 GH01I203266 203266853 203268209 1.27 [{'connected_gene': 'LINC01136', 'score': 11.7}, {'connected_gene': 'BTG2', 'score': 11.7}, {'connected_gene': 'RNU6-487P', 'score': 11.63}, {'connected_gene': 'PPFIA4', 'score': 11.52}, {'connected_gene': 'FMOD', 'score': 10.83}, {'connected_gene': 'LOC100131747', 'score': 10.82}, {'connected_gene': 'ADORA1', 'score': 10.68}, {'connected_gene': 'ENSG00000224671', 'score': 10.6}, {'connected_gene': 'OPTC', 'score': 10.53}, {'connected_gene': 'CHI3L1', 'score': 10.27}, {'connected_gene': 'PRELP', 'score': 10.04}, {'connected_gene': 'GC01P203263', 'score': 0.77}, {'connected_gene': 'CHIT1', 'score': 0.44}]
chr1 GH01I202203 202203633 202203842 1.49 [{'connected_gene': 'LGR6', 'score': 561.23}, {'connected_gene': 'CHI3L1', 'score': 4.87}, {'connected_gene': 'GC01M202216', 'score': 0.29}]
chr1 GH01I203205 203205133 203208493 0.69 [{'connected_gene': 'MYBPH', 'score': 11.35}, {'connected_gene': 'ENSG00000224671', 'score': 11.04}, {'connected_gene': 'ADORA1', 'score': 10.93}, {'connected_gene': 'MYOG', 'score': 10.91}, {'connected_gene': 'PPFIA4', 'score': 10.56}, {'connected_gene': 'CHIT1', 'score': 7.89}, {'connected_gene': 'KRT8P29', 'score': 4.8}, {'connected_gene': 'CHI3L1', 'score': 0.37}, {'connected_gene': 'NPM1P40', 'score': 0.25}]
chr1 GH01I203204 203204813 203204962 0.58 [{'connected_gene': 'MYBPH', 'score': 11.37}, {'connected_gene': 'ENSG00000224671', 'score': 11.04}, {'connected_gene': 'ADORA1', 'score': 10.94}, {'connected_gene': 'MYOG', 'score': 10.91}, {'connected_gene': 'PPFIA4', 'score': 10.57}, {'connected_gene': 'CHI3L1', 'score': 0.37}, {'connected_gene': 'NPM1P40', 'score': 0.23}]
chr1 GH01I203199 203199177 203203993 1.07 [{'connected_gene': 'MYBPH', 'score': 22.06}, {'connected_gene': 'ADORA1', 'score': 21.66}, {'connected_gene': 'ENSG00000224671', 'score': 11.27}, {'connected_gene': 'ENSG00000234775', 'score': 10.84}, {'connected_gene': 'MYOG', 'score': 10.45}, {'connected_gene': 'FMOD', 'score': 9.86}, {'connected_gene': 'LOC100131747', 'score': 9.86}, {'connected_gene': 'OPTC', 'score': 9.12}, {'connected_gene': 'CHIT1', 'score': 7.57}, {'connected_gene': 'CHI3L1', 'score': 7.28}, {'connected_gene': 'KDM5B', 'score': 5.48}, {'connected_gene': 'KRT8P29', 'score': 4.84}, {'connected_gene': 'NPM1P40', 'score': 0.23}]
chr1 GH01I203189 203189240 203190698 0.43 [{'connected_gene': 'MYBPH', 'score': 11.6}, {'connected_gene': 'ENSG00000224671', 'score': 11.41}, {'connected_gene': 'ADORA1', 'score': 11.28}, {'connected_gene': 'MYOG', 'score': 10.88}, {'connected_gene': 'FMOD', 'score': 9.72}, {'connected_gene': 'LOC100131747', 'score': 9.72}, {'connected_gene': 'OPTC', 'score': 9.59}, {'connected_gene': 'CHI3L1', 'score': 6.48}, {'connected_gene': 'NPM1P40', 'score': 0.2}]
chr1 GH01I203138 203138898 203144228 0.65 [{'connected_gene': 'MYBPH', 'score': 11.71}, {'connected_gene': 'ADORA1', 'score': 11.66}, {'connected_gene': 'CHI3L1', 'score': 10.59}, {'connected_gene': 'ENSG00000224671', 'score': 0.39}, {'connected_gene': 'ENSG00000234775', 'score': 0.39}]
chr1 GH01I203169 203169520 203179083 1.81 [{'connected_gene': 'MYBPH', 'score': 550.77}, {'connected_gene': 'ADORA1', 'score': 16.09}, {'connected_gene': 'ENSG00000224671', 'score': 11.55}, {'connected_gene': 'LOC100131747', 'score': 9.19}, {'connected_gene': 'FMOD', 'score': 9.19}, {'connected_gene': 'UBE2T', 'score': 4.74}, {'connected_gene': 'CHI3L1', 'score': 4.66}]
chr1 GH01I203214 203214831 203215600 0.2 [{'connected_gene': 'MYBPH', 'score': 11.86}, {'connected_gene': 'CHI3L1', 'score': 11.8}, {'connected_gene': 'ENSG00000234775', 'score': 11.4}, {'connected_gene': 'ADORA1', 'score': 11.36}, {'connected_gene': 'ENSG00000224671', 'score': 11.11}, {'connected_gene': 'MYOG', 'score': 11.04}, {'connected_gene': 'FMOD', 'score': 10.03}, {'connected_gene': 'LOC100131747', 'score': 10.03}, {'connected_gene': 'OPTC', 'score': 9.56}, {'connected_gene': 'NPM1P40', 'score': 0.26}, {'connected_gene': 'CHIT1', 'score': 0.22}]
chr1 GH01I203216 203216293 203216600 0.91 [{'connected_gene': 'MYBPH', 'score': 11.85}, {'connected_gene': 'CHI3L1', 'score': 11.8}, {'connected_gene': 'ENSG00000234775', 'score': 11.4}, {'connected_gene': 'ADORA1', 'score': 11.36}, {'connected_gene': 'ENSG00000224671', 'score': 11.11}, {'connected_gene': 'MYOG', 'score': 11.03}, {'connected_gene': 'FMOD', 'score': 10.03}, {'connected_gene': 'LOC100131747', 'score': 10.03}, {'connected_gene': 'OPTC', 'score': 9.56}, {'connected_gene': 'NPM1P40', 'score': 0.28}, {'connected_gene': 'CHIT1', 'score': 0.22}]
chr1 GH01I203196 203196062 203198807 0.79 [{'connected_gene': 'MYBPH', 'score': 23.26}, {'connected_gene': 'ENSG00000224671', 'score': 11.39}, {'connected_gene': 'CHI3L1', 'score': 11.36}, {'connected_gene': 'ADORA1', 'score': 11.27}, {'connected_gene': 'MYOG', 'score': 10.87}, {'connected_gene': 'ENSG00000234775', 'score': 10.86}, {'connected_gene': 'FMOD', 'score': 9.73}, {'connected_gene': 'LOC100131747', 'score': 9.73}, {'connected_gene': 'OPTC', 'score': 9.59}, {'connected_gene': 'NPM1P40', 'score': 0.22}]
chr1 GH01I203217 203217401 203217800 0.38 [{'connected_gene': 'MYBPH', 'score': 11.85}, {'connected_gene': 'CHI3L1', 'score': 11.78}, {'connected_gene': 'ENSG00000234775', 'score': 11.4}, {'connected_gene': 'ADORA1', 'score': 11.36}, {'connected_gene': 'ENSG00000224671', 'score': 11.1}, {'connected_gene': 'MYOG', 'score': 11.03}, {'connected_gene': 'LOC100131747', 'score': 10.31}, {'connected_gene': 'FMOD', 'score': 10.31}, {'connected_gene': 'OPTC', 'score': 9.56}, {'connected_gene': 'NPM1P40', 'score': 0.28}, {'connected_gene': 'CHIT1', 'score': 0.22}]
chr1 GH01I203137 203137991 203138848 0.2 [{'connected_gene': 'MYBPH', 'score': 11.7}, {'connected_gene': 'CHI3L1', 'score': 10.59}, {'connected_gene': 'ENSG00000224671', 'score': 0.39}, {'connected_gene': 'ENSG00000234775', 'score': 0.39}, {'connected_gene': 'ADORA1', 'score': 0.25}]
chr1 GH01I203424 203424315 203429984 0.92 [{'connected_gene': 'OPTC', 'score': 14.8}, {'connected_gene': 'LOC100131747', 'score': 11.15}, {'connected_gene': 'FMOD', 'score': 11.14}, {'connected_gene': 'PRELP', 'score': 10.77}, {'connected_gene': 'ENSG00000224671', 'score': 9.93}, {'connected_gene': 'ADORA1', 'score': 9.93}, {'connected_gene': 'CHI3L1', 'score': 9.89}, {'connected_gene': 'LAX1', 'score': 9.56}, {'connected_gene': 'PPFIA4', 'score': 2.05}, {'connected_gene': 'GC01M203432', 'score': 0.44}, {'connected_gene': 'LARP7P1', 'score': 0.31}]
chr1 GH01I202196 202196883 202202355 1.29 [{'connected_gene': 'PTPRVP', 'score': 8.3}, {'connected_gene': 'LGR6', 'score': 6.63}, {'connected_gene': 'CHI3L1', 'score': 5.27}, {'connected_gene': 'GC01M202216', 'score': 0.28}]
chr1 GH01I203250 203250233 203251883 0.43 [{'connected_gene': 'ADORA1', 'score': 10.98}, {'connected_gene': 'ENSG00000224671', 'score': 10.56}, {'connected_gene': 'MYOG', 'score': 10.54}, {'connected_gene': 'CHI3L1', 'score': 10.54}, {'connected_gene': 'FMOD', 'score': 10.48}, {'connected_gene': 'LOC100131747', 'score': 10.48}, {'connected_gene': 'OPTC', 'score': 10.19}, {'connected_gene': 'NPM1P40', 'score': 0.77}, {'connected_gene': 'CHIT1', 'score': 0.34}]
chr1 GH01I203132 203132978 203137697 0.59 [{'connected_gene': 'ADORA1', 'score': 23.74}, {'connected_gene': 'MYBPH', 'score': 11.68}, {'connected_gene': 'MYOG', 'score': 11.42}, {'connected_gene': 'CHI3L1', 'score': 11.09}, {'connected_gene': 'LGR6', 'score': 5.01}, {'connected_gene': 'ENSG00000234775', 'score': 0.44}, {'connected_gene': 'ENSG00000224671', 'score': 0.37}]
chr1 GH01I203158 203158799 203161615 0.2 [{'connected_gene': 'ADORA1', 'score': 15.91}, {'connected_gene': 'CHI3L1', 'score': 11.66}, {'connected_gene': 'MYOG', 'score': 11.04}, {'connected_gene': 'RABIF', 'score': 5.51}, {'connected_gene': 'ENSG00000224671', 'score': 0.44}, {'connected_gene': 'MYBPH', 'score': 0.37}]
chr1 GH01I203227 203227401 203229800 0.99 [{'connected_gene': 'CHIT1', 'score': 559.78}, {'connected_gene': 'ADORA1', 'score': 15.1}, {'connected_gene': 'CHI3L1', 'score': 11.5}, {'connected_gene': 'MYBPH', 'score': 11.27}, {'connected_gene': 'MYOG', 'score': 10.88}, {'connected_gene': 'ENSG00000224671', 'score': 10.77}, {'connected_gene': 'OPTC', 'score': 10.19}, {'connected_gene': 'LOC100131747', 'score': 10.09}, {'connected_gene': 'FMOD', 'score': 10.09}, {'connected_gene': 'PRELP', 'score': 9.66}, {'connected_gene': 'NPM1P40', 'score': 0.31}]
chr1 GH01I203228 203227001 203227200 0.2 [{'connected_gene': 'CHI3L1', 'score': 11.5}, {'connected_gene': 'MYBPH', 'score': 10.94}, {'connected_gene': 'ADORA1', 'score': 10.89}, {'connected_gene': 'ENSG00000224671', 'score': 10.78}, {'connected_gene': 'LOC100131747', 'score': 9.94}, {'connected_gene': 'FMOD', 'score': 9.93}, {'connected_gene': 'OPTC', 'score': 9.75}, {'connected_gene': 'PRELP', 'score': 9.66}, {'connected_gene': 'NPM1P40', 'score': 0.31}, {'connected_gene': 'CHIT1', 'score': 0.25}]
chr1 GH01I203185 203185001 203185400 0.43 [{'connected_gene': 'CHI3L1', 'score': 550.77}, {'connected_gene': 'MYBPH', 'score': 0.44}]
chr1 GH01I203186 203185601 203187599 0.93 [{'connected_gene': 'CHI3L1', 'score': 562.86}, {'connected_gene': 'MYBPH', 'score': 11.94}]
chr1 GH01I203161 203161638 203165255 0.57 [{'connected_gene': 'CHI3L1', 'score': 11.69}, {'connected_gene': 'ADORA1', 'score': 11.09}, {'connected_gene': 'MYOG', 'score': 11.03}, {'connected_gene': 'RABIF', 'score': 5.5}, {'connected_gene': 'MYBPH', 'score': 0.39}, {'connected_gene': 'ENSG00000224671', 'score': 0.39}]
chr1 GH01I203068 203068315 203070454 0.86 [{'connected_gene': 'LOC105371687', 'score': 550.77}, {'connected_gene': 'CHI3L1', 'score': 10.48}, {'connected_gene': 'PPFIA4', 'score': 5.53}, {'connected_gene': 'MYOG', 'score': 0.37}, {'connected_gene': 'GC01P203013', 'score': 0.22}]
chr1 GH01I203244 203244476 203245741 0.8 [{'connected_gene': 'NPM1P40', 'score': 0.39}, {'connected_gene': 'CHIT1', 'score': 0.31}, {'connected_gene': 'CHI3L1', 'score': 0.22}]
chr1 GH01I203443 203443901 203444873 0.46 [{'connected_gene': 'LOC100131747', 'score': 11.2}, {'connected_gene': 'FMOD', 'score': 11.2}, {'connected_gene': 'PRELP', 'score': 10.89}, {'connected_gene': 'CHI3L1', 'score': 10.2}, {'connected_gene': 'GC01M203439', 'score': 0.77}]
chr1 GH01I203096 203096665 203104181 0.9 [{'connected_gene': 'ENSG00000234775', 'score': 11.59}, {'connected_gene': 'MYBPH', 'score': 11.21}, {'connected_gene': 'ENSG00000224671', 'score': 10.98}, {'connected_gene': 'CHI3L1', 'score': 10.47}, {'connected_gene': 'LOC100131747', 'score': 9.46}, {'connected_gene': 'FMOD', 'score': 9.46}, {'connected_gene': 'ADORA1', 'score': 6.98}]
chr1 GH01I203131 203131661 203131836 0.31 [{'connected_gene': 'ENSG00000224671', 'score': 12.13}, {'connected_gene': 'ADORA1', 'score': 12.05}, {'connected_gene': 'MYOG', 'score': 11.42}, {'connected_gene': 'MYBPH', 'score': 11.21}, {'connected_gene': 'CHI3L1', 'score': 11.04}, {'connected_gene': 'ENSG00000234775', 'score': 0.77}]
chr1 GH01I203130 203130796 203131072 0.2 [{'connected_gene': 'ENSG00000224671', 'score': 12.13}, {'connected_gene': 'ADORA1', 'score': 12.05}, {'connected_gene': 'MYOG', 'score': 11.44}, {'connected_gene': 'MYBPH', 'score': 11.19}, {'connected_gene': 'CHI3L1', 'score': 11.04}, {'connected_gene': 'ENSG00000234775', 'score': 0.77}]
chr1 GH01I203263 203263333 203265235 1.1 [{'connected_gene': 'GC01P203263', 'score': 550.77}, {'connected_gene': 'RNU6-487P', 'score': 11.5}, {'connected_gene': 'LINC01136', 'score': 11.3}, {'connected_gene': 'BTG2', 'score': 11.3}, {'connected_gene': 'FMOD', 'score': 10.82}, {'connected_gene': 'LOC100131747', 'score': 10.82}, {'connected_gene': 'ADORA1', 'score': 10.68}, {'connected_gene': 'ENSG00000224671', 'score': 10.6}, {'connected_gene': 'OPTC', 'score': 10.44}, {'connected_gene': 'CHI3L1', 'score': 10.28}, {'connected_gene': 'PRELP', 'score': 10.04}, {'connected_gene': 'CHIT1', 'score': 8.0}]
chr1 GH01I203440 203440102 203441266 0.97 [{'connected_gene': 'GC01M203439', 'score': 550.77}, {'connected_gene': 'LOC100131747', 'score': 11.21}, {'connected_gene': 'FMOD', 'score': 11.21}, {'connected_gene': 'PRELP', 'score': 10.87}, {'connected_gene': 'CHI3L1', 'score': 10.2}, {'connected_gene': 'GC01P203439', 'score': 0.77}]
chr1 GH01I203442 203442993 203443142 0.2 [{'connected_gene': 'GC01M203439', 'score': 550.77}, {'connected_gene': 'LOC100131747', 'score': 11.21}, {'connected_gene': 'FMOD', 'score': 11.2}, {'connected_gene': 'PRELP', 'score': 10.89}, {'connected_gene': 'CHI3L1', 'score': 10.2}]

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