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
ENST00000372572 [[42642209, 42645496], [42647587, 42647695], [42654407, 42654599], [42654973, 42655075], [42656973, 42657390], [42660560, 42660735], [42664772, 42664901], [42671432, 42671534], [42693553, 42693637], [42730785, 42730860], [42744018, 42744343], [42776720, 42776781], [42781016, 42781126], [42789354, 42789498], [42800595, 42800636]] [[42645380, 42645496], [42647587, 42647695], [42654407, 42654599], [42654973, 42655075], [42656973, 42657390], [42660560, 42660735], [42664772, 42664901], [42671432, 42671534], [42693553, 42693637], [42730785, 42730860], [42744018, 42744343], [42776720, 42776764]]
ENST00000372573 [[42642209, 42645496], [42647587, 42647695], [42654407, 42654599], [42654973, 42655075], [42656973, 42657390], [42660560, 42660735], [42664772, 42664901], [42671432, 42671534], [42693553, 42693637], [42730785, 42730860], [42744018, 42744343], [42776720, 42776781], [42801296, 42801548]] [[42645380, 42645496], [42647587, 42647695], [42654407, 42654599], [42654973, 42655075], [42656973, 42657390], [42660560, 42660735], [42664772, 42664901], [42671432, 42671534], [42693553, 42693637], [42730785, 42730860], [42744018, 42744343], [42776720, 42776764]]
ENST00000361346 [[42642215, 42645496], [42647587, 42647695], [42654407, 42654599], [42654973, 42655075], [42656973, 42657390], [42660560, 42660735], [42664772, 42664901], [42671432, 42671534], [42693553, 42693637], [42730785, 42730860], [42744018, 42744343], [42776720, 42776781], [42800729, 42800903]] [[42645380, 42645496], [42647587, 42647695], [42654407, 42654599], [42654973, 42655075], [42656973, 42657390], [42660560, 42660735], [42664772, 42664901], [42671432, 42671534], [42693553, 42693637], [42730785, 42730860], [42744018, 42744343], [42776720, 42776764]]
ENST00000361776 [[42642215, 42645496], [42647587, 42647695], [42654407, 42654599], [42654973, 42655075], [42656973, 42657390], [42660560, 42660735], [42664772, 42664901], [42693553, 42693637], [42730785, 42730860], [42744018, 42744343], [42776720, 42776781], [42800729, 42800903]] [[42645380, 42645496], [42647587, 42647695], [42654407, 42654599], [42654973, 42655075], [42656973, 42657390], [42660560, 42660735], [42664772, 42664901], [42693553, 42693637], [42730785, 42730860], [42744018, 42744343], [42776720, 42776764]]
ENST00000545068 [[42642219, 42645496], [42647587, 42647695], [42654407, 42654599], [42654973, 42655075], [42656973, 42657390], [42660560, 42660735], [42664772, 42664901], [42671432, 42671534], [42693553, 42693637], [42730785, 42730860], [42744018, 42744343], [42776720, 42776781], [42781016, 42781130]] [[42645380, 42645496], [42647587, 42647695], [42654407, 42654599], [42654973, 42655075], [42656973, 42657390], [42660560, 42660735], [42664772, 42664901], [42671432, 42671534], [42693553, 42693637], [42730785, 42730860], [42744018, 42744343], [42776720, 42776764]]
ENST00000445886 [[42657076, 42657390], [42660560, 42660735], [42664772, 42664901], [42693553, 42693637], [42730785, 42730860], [42744018, 42744343], [42776720, 42776781], [42800729, 42800892]] [[42657076, 42657390], [42660560, 42660735], [42664772, 42664901], [42693553, 42693637], [42730785, 42730860], [42744018, 42744343], [42776720, 42776764]]
ENST00000372571 [[42642209, 42645496], [42647587, 42647695], [42654407, 42655480]] [[42645380, 42645496], [42647587, 42647695], [42654407, 42654594]]
ENST00000422278 [[42660667, 42660735], [42664772, 42664901], [42671432, 42671682]] [[42660667, 42660735], [42664772, 42664901], [42671432, 42671495]]
ENST00000454417 [[42730601, 42730860], [42744018, 42744258]] [[42730722, 42730860], [42744018, 42744258]]
NM_001198851 [[42642209, 42645496], [42647587, 42647695], [42654407, 42654599], [42654973, 42655075], [42656973, 42657390], [42660560, 42660735], [42664772, 42664901], [42671432, 42671534], [42693553, 42693637], [42730785, 42730860], [42744018, 42744343], [42776720, 42776781], [42781016, 42781126], [42789354, 42789498], [42800595, 42800636]] [[42645380, 42645496], [42647587, 42647695], [42654407, 42654599], [42654973, 42655075], [42656973, 42657390], [42660560, 42660735], [42664772, 42664901], [42671432, 42671534], [42693553, 42693637], [42730785, 42730860], [42744018, 42744343], [42776720, 42776764]]
NM_001198852 [[42642209, 42645496], [42647587, 42647695], [42654407, 42654599], [42654973, 42655075], [42656973, 42657390], [42660560, 42660735], [42664772, 42664901], [42693553, 42693637], [42730785, 42730860], [42744018, 42744343], [42776720, 42776781], [42800729, 42800886]] [[42645380, 42645496], [42647587, 42647695], [42654407, 42654599], [42654973, 42655075], [42656973, 42657390], [42660560, 42660735], [42664772, 42664901], [42693553, 42693637], [42730785, 42730860], [42744018, 42744343], [42776720, 42776764]]
NM_014947 [[42642209, 42645496], [42647587, 42647695], [42654407, 42654599], [42654973, 42655075], [42656973, 42657390], [42660560, 42660735], [42664772, 42664901], [42671432, 42671534], [42693553, 42693637], [42730785, 42730860], [42744018, 42744343], [42776720, 42776781], [42800729, 42800903]] [[42645380, 42645496], [42647587, 42647695], [42654407, 42654599], [42654973, 42655075], [42656973, 42657390], [42660560, 42660735], [42664772, 42664901], [42671432, 42671534], [42693553, 42693637], [42730785, 42730860], [42744018, 42744343], [42776720, 42776764]]
NM_001198850 [[42642209, 42645496], [42647587, 42647695], [42654407, 42654599], [42654973, 42655075], [42656973, 42657390], [42660560, 42660735], [42664772, 42664901], [42671432, 42671534], [42693553, 42693637], [42730785, 42730860], [42744018, 42744343], [42776720, 42776781], [42801296, 42801548]] [[42645380, 42645496], [42647587, 42647695], [42654407, 42654599], [42654973, 42655075], [42656973, 42657390], [42660560, 42660735], [42664772, 42664901], [42671432, 42671534], [42693553, 42693637], [42730785, 42730860], [42744018, 42744343], [42776720, 42776764]]
Promoter
Chrom Start End Description
chr1 42671469 42671496 CAGE_peak_6_at_FOXJ3_5end
chr1 42800614 42800649 CAGE_peak_5_at_FOXJ3_5end
chr1 42800836 42800847 CAGE_peak_3_at_FOXJ3_5end
chr1 42800848 42800859 CAGE_peak_2_at_FOXJ3_5end
chr1 42800860 42800912 CAGE_peak_1_at_FOXJ3_5end
chr1 42801522 42801532 CAGE_peak_10_at_FOXJ3_5end
chr1 42801540 42801562 CAGE_peak_4_at_FOXJ3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I042454 42454076 42457660 2.02 [{'connected_gene': 'PPCS', 'score': 550.77}, {'connected_gene': 'ZMYND12', 'score': 550.77}, {'connected_gene': 'CCDC30', 'score': 15.15}, {'connected_gene': 'FOXJ3', 'score': 11.45}, {'connected_gene': 'PPIH', 'score': 9.64}, {'connected_gene': 'PIR31959', 'score': 0.28}]
chr1 GH01I041492 41492570 41504873 1.74 [{'connected_gene': 'EXO5', 'score': 35.08}, {'connected_gene': 'FOXJ3', 'score': 28.28}, {'connected_gene': 'EDN2', 'score': 13.81}, {'connected_gene': 'ENSG00000230881', 'score': 11.91}, {'connected_gene': 'LOC100418723', 'score': 11.9}, {'connected_gene': 'RIMS3', 'score': 10.21}, {'connected_gene': 'LOC101929901', 'score': 10.1}, {'connected_gene': 'GC01M041492', 'score': 0.44}, {'connected_gene': 'GC01M041516', 'score': 0.37}]
chr1 GH01I041397 41397659 41400909 0.8 [{'connected_gene': 'EXO5', 'score': 11.84}, {'connected_gene': 'FOXJ3', 'score': 10.03}, {'connected_gene': 'FOXO6', 'score': 5.49}, {'connected_gene': 'LOC101929901', 'score': 0.37}, {'connected_gene': 'LOC105378678', 'score': 0.29}]
chr1 GH01I041911 41911845 41921247 2.62 [{'connected_gene': 'HIVEP3', 'score': 555.53}, {'connected_gene': 'LOC105378683', 'score': 5.44}, {'connected_gene': 'CCDC30', 'score': 4.84}, {'connected_gene': 'FOXJ3', 'score': 1.45}, {'connected_gene': 'PIR53563', 'score': 0.31}]
chr1 GH01I042177 42177396 42177832 1.1 [{'connected_gene': 'ZNF691', 'score': 19.67}, {'connected_gene': 'P3H1', 'score': 19.61}, {'connected_gene': 'FOXJ3', 'score': 19.45}, {'connected_gene': 'PPIH', 'score': 10.18}, {'connected_gene': 'GC01P042164', 'score': 0.39}, {'connected_gene': 'GC01M042279', 'score': 0.15}, {'connected_gene': 'PIR49391', 'score': 0.15}]
chr1 GH01I042214 42214402 42215002 1.09 [{'connected_gene': 'ZNF691', 'score': 10.7}, {'connected_gene': 'P3H1', 'score': 10.33}, {'connected_gene': 'PPIH', 'score': 10.18}, {'connected_gene': 'FOXJ3', 'score': 6.47}, {'connected_gene': 'GC01P042164', 'score': 0.25}, {'connected_gene': 'GC01M042279', 'score': 0.21}, {'connected_gene': 'PIR49391', 'score': 0.21}]
chr1 GH01I042845 42845768 42848146 2.05 [{'connected_gene': 'ZNF691', 'score': 556.71}, {'connected_gene': 'ENSG00000228192', 'score': 550.77}, {'connected_gene': 'SZT2', 'score': 24.51}, {'connected_gene': 'FOXJ3', 'score': 22.87}, {'connected_gene': 'YBX1', 'score': 16.52}, {'connected_gene': 'CCDC30', 'score': 10.08}, {'connected_gene': 'PPIH', 'score': 9.84}, {'connected_gene': 'ERMAP', 'score': 9.78}, {'connected_gene': 'PIR46792', 'score': 0.39}]
chr1 GH01I042680 42680504 42684556 2.08 [{'connected_gene': 'YBX1', 'score': 550.77}, {'connected_gene': 'SZT2', 'score': 59.39}, {'connected_gene': 'PPIH', 'score': 38.8}, {'connected_gene': 'P3H1', 'score': 25.2}, {'connected_gene': 'SVBP', 'score': 14.71}, {'connected_gene': 'MED8', 'score': 12.56}, {'connected_gene': 'ZNF691', 'score': 11.75}, {'connected_gene': 'FOXJ3', 'score': 11.56}, {'connected_gene': 'KDM4A', 'score': 11.5}, {'connected_gene': 'HYI', 'score': 10.5}, {'connected_gene': 'CLDN19', 'score': 4.12}, {'connected_gene': 'ENSG00000234917', 'score': 0.77}, {'connected_gene': 'GC01P042719', 'score': 0.28}]
chr1 GH01I042929 42929870 42948855 1.79 [{'connected_gene': 'SLC2A1-AS1', 'score': 41.65}, {'connected_gene': 'HYI', 'score': 13.36}, {'connected_gene': 'SZT2', 'score': 12.58}, {'connected_gene': 'ARTN', 'score': 12.4}, {'connected_gene': 'RNU6-880P', 'score': 11.5}, {'connected_gene': 'FOXJ3', 'score': 10.04}, {'connected_gene': 'C1orf210', 'score': 6.68}, {'connected_gene': 'ERMAP', 'score': 3.31}, {'connected_gene': 'CCDC30', 'score': 3.18}, {'connected_gene': 'YBX1', 'score': 1.86}, {'connected_gene': 'SVBP', 'score': 1.77}, {'connected_gene': 'SLC2A1', 'score': 1.53}, {'connected_gene': 'ENSG00000284138', 'score': 0.39}, {'connected_gene': 'ATP6V1E1P1', 'score': 0.28}]
chr1 GH01I042185 42185549 42187014 0.38 [{'connected_gene': 'SVBP', 'score': 6.11}, {'connected_gene': 'FOXJ3', 'score': 5.74}, {'connected_gene': 'GC01P042164', 'score': 0.34}, {'connected_gene': 'GC01M042279', 'score': 0.16}, {'connected_gene': 'PIR49391', 'score': 0.16}]
chr1 GH01I042222 42222189 42222919 0.82 [{'connected_gene': 'GUCA2B', 'score': 11.04}, {'connected_gene': 'PPCS', 'score': 9.99}, {'connected_gene': 'ZMYND12', 'score': 9.99}, {'connected_gene': 'YBX1', 'score': 9.22}, {'connected_gene': 'GC01P042164', 'score': 0.22}, {'connected_gene': 'GC01M042279', 'score': 0.22}, {'connected_gene': 'PIR49391', 'score': 0.22}, {'connected_gene': 'FOXJ3', 'score': 0.14}]
chr1 GH01I042209 42209283 42212208 0.57 [{'connected_gene': 'GUCA2B', 'score': 11.0}, {'connected_gene': 'PPIH', 'score': 9.8}, {'connected_gene': 'GC01P042164', 'score': 0.25}, {'connected_gene': 'GC01M042279', 'score': 0.2}, {'connected_gene': 'PIR49391', 'score': 0.2}, {'connected_gene': 'FOXJ3', 'score': 0.13}]
chr1 GH01I042923 42922802 42926703 1.5 [{'connected_gene': 'FOXJ3', 'score': 30.83}, {'connected_gene': 'HYI', 'score': 30.14}, {'connected_gene': 'SZT2', 'score': 23.22}, {'connected_gene': 'P3H1', 'score': 12.31}, {'connected_gene': 'RNU6-880P', 'score': 11.48}, {'connected_gene': 'CCDC30', 'score': 11.13}, {'connected_gene': 'ZNF691', 'score': 10.55}, {'connected_gene': 'ENSG00000228192', 'score': 10.55}, {'connected_gene': 'FAM183A', 'score': 10.02}, {'connected_gene': 'KDM4A', 'score': 9.98}, {'connected_gene': 'LOC105378683', 'score': 9.8}, {'connected_gene': 'HYI-AS1', 'score': 9.65}, {'connected_gene': 'ATP6V1E1P1', 'score': 0.34}, {'connected_gene': 'ENSG00000284138', 'score': 0.31}, {'connected_gene': 'SLC2A1', 'score': 0.29}]
chr1 GH01I042170 42170541 42176367 1.06 [{'connected_gene': 'FOXJ3', 'score': 6.48}, {'connected_gene': 'C1orf50', 'score': 6.4}, {'connected_gene': 'SVBP', 'score': 4.7}, {'connected_gene': 'RIMKLA', 'score': 4.29}, {'connected_gene': 'GC01P042164', 'score': 0.44}, {'connected_gene': 'GC01M042279', 'score': 0.14}, {'connected_gene': 'PIR49391', 'score': 0.14}]
chr1 GH01I042333 42333201 42337730 2.14 [{'connected_gene': 'FOXJ3', 'score': 568.35}, {'connected_gene': 'GC01P042336', 'score': 550.77}, {'connected_gene': 'GC01P042337', 'score': 550.77}, {'connected_gene': 'CCDC30', 'score': 30.13}, {'connected_gene': 'P3H1', 'score': 20.52}, {'connected_gene': 'PPIH', 'score': 19.45}, {'connected_gene': 'CLDN19', 'score': 10.41}, {'connected_gene': 'GUCA2B', 'score': 10.34}, {'connected_gene': 'RNU6-536P', 'score': 9.85}, {'connected_gene': 'ENSG00000236180', 'score': 9.85}, {'connected_gene': 'LOC105378683', 'score': 9.73}, {'connected_gene': 'YBX1', 'score': 9.5}, {'connected_gene': 'EDN2', 'score': 4.3}, {'connected_gene': 'ENSG00000227527', 'score': 0.77}, {'connected_gene': 'GC01M042316', 'score': 0.31}, {'connected_gene': 'GC01M042279', 'score': 0.22}, {'connected_gene': 'PIR49391', 'score': 0.22}]
chr1 GH01I041842 41842176 41843563 0.46 [{'connected_gene': 'FOXJ3', 'score': 4.03}, {'connected_gene': 'PIR53563', 'score': 0.26}, {'connected_gene': 'GC01M041738', 'score': 0.16}, {'connected_gene': 'HIVEP3', 'score': 0.08}]
chr1 GH01I042257 42257958 42260708 1.14 [{'connected_gene': 'FOXJ3', 'score': 6.9}, {'connected_gene': 'SVBP', 'score': 6.11}, {'connected_gene': 'GC01M042279', 'score': 0.37}, {'connected_gene': 'PIR49391', 'score': 0.37}, {'connected_gene': 'GC01P042164', 'score': 0.16}]
chr1 GH01I042314 42314783 42316312 0.77 [{'connected_gene': 'FOXJ3', 'score': 7.6}, {'connected_gene': 'PPIH', 'score': 4.96}, {'connected_gene': 'GC01M042279', 'score': 0.28}, {'connected_gene': 'PIR49391', 'score': 0.28}]
chr1 GH01I042240 42240280 42242017 0.4 [{'connected_gene': 'FOXJ3', 'score': 6.97}, {'connected_gene': 'GC01M042279', 'score': 0.28}, {'connected_gene': 'PIR49391', 'score': 0.28}, {'connected_gene': 'GC01P042164', 'score': 0.18}]
chr1 GH01I042313 42313742 42313801 0.5 [{'connected_gene': 'FOXJ3', 'score': 550.34}, {'connected_gene': 'GC01M042279', 'score': 0.28}, {'connected_gene': 'PIR49391', 'score': 0.28}]
chr1 GH01I042322 42322710 42322859 0.38 [{'connected_gene': 'FOXJ3', 'score': 0.39}, {'connected_gene': 'GC01M042316', 'score': 0.26}, {'connected_gene': 'GC01M042279', 'score': 0.26}, {'connected_gene': 'PIR49391', 'score': 0.26}]
chr1 GH01I042205 42205559 42207130 0.62 [{'connected_gene': 'FOXJ3', 'score': 6.01}, {'connected_gene': 'GC01P042164', 'score': 0.26}, {'connected_gene': 'GC01M042279', 'score': 0.19}, {'connected_gene': 'PIR49391', 'score': 0.19}]
chr1 GH01I042318 42318927 42321844 1 [{'connected_gene': 'FOXJ3', 'score': 5.74}, {'connected_gene': 'GC01M042316', 'score': 0.26}, {'connected_gene': 'GC01M042279', 'score': 0.26}, {'connected_gene': 'PIR49391', 'score': 0.26}]
chr1 GH01I042323 42322190 42322280 0.2 [{'connected_gene': 'FOXJ3', 'score': 0.39}, {'connected_gene': 'GC01M042316', 'score': 0.26}, {'connected_gene': 'GC01M042279', 'score': 0.26}, {'connected_gene': 'PIR49391', 'score': 0.26}]
chr1 GH01I041869 41869385 41870875 1.39 [{'connected_gene': 'SLFNL1', 'score': 12.84}, {'connected_gene': 'FOXJ3', 'score': 10.05}, {'connected_gene': 'HIVEP3', 'score': 6.63}, {'connected_gene': 'PIR53563', 'score': 0.37}, {'connected_gene': 'GC01M041738', 'score': 0.13}]
chr1 GH01I042308 42308997 42309130 0.23 [{'connected_gene': 'RNU6-536P', 'score': 10.44}, {'connected_gene': 'ENSG00000236180', 'score': 10.44}, {'connected_gene': 'YBX1', 'score': 9.39}, {'connected_gene': 'PPIH', 'score': 9.12}, {'connected_gene': 'FOXJ3', 'score': 7.38}, {'connected_gene': 'RIMKLA', 'score': 1.7}, {'connected_gene': 'CCDC30', 'score': 1.67}, {'connected_gene': 'ZMYND12', 'score': 1.19}, {'connected_gene': 'GC01M042279', 'score': 0.29}, {'connected_gene': 'PIR49391', 'score': 0.29}]
chr1 GH01I043300 43300956 43303657 1.79 [{'connected_gene': 'GC01P043301', 'score': 550.77}, {'connected_gene': 'TIE1', 'score': 550.77}, {'connected_gene': 'MED8', 'score': 39.79}, {'connected_gene': 'FOXJ3', 'score': 13.02}, {'connected_gene': 'LOC101929609', 'score': 12.05}, {'connected_gene': 'ARTN', 'score': 10.87}, {'connected_gene': 'SZT2', 'score': 10.35}, {'connected_gene': 'DMAP1', 'score': 9.78}, {'connected_gene': 'HYI', 'score': 5.4}, {'connected_gene': 'PIR52122', 'score': 0.31}]
chr1 GH01I042164 42164323 42166706 1.65 [{'connected_gene': 'GC01P042164', 'score': 550.77}, {'connected_gene': 'GUCA2A', 'score': 550.77}, {'connected_gene': 'PPIH', 'score': 28.01}, {'connected_gene': 'FOXJ3', 'score': 24.84}, {'connected_gene': 'P3H1', 'score': 22.18}, {'connected_gene': 'CCDC30', 'score': 11.94}, {'connected_gene': 'ZNF691', 'score': 11.62}, {'connected_gene': 'SCMH1', 'score': 10.79}, {'connected_gene': 'ENSG00000227527', 'score': 10.12}, {'connected_gene': 'GC01M042279', 'score': 0.14}, {'connected_gene': 'PIR49391', 'score': 0.14}]
chr1 GH01I041514 41514104 41517787 1.57 [{'connected_gene': 'GC01M041516', 'score': 550.77}, {'connected_gene': 'FOXJ3', 'score': 13.02}, {'connected_gene': 'SLFNL1', 'score': 1.52}, {'connected_gene': 'GC01M041531', 'score': 0.37}, {'connected_gene': 'HIVEP3', 'score': 0.03}]
chr1 GH01I041888 41888580 41888976 1.04 [{'connected_gene': 'PIR53563', 'score': 550.77}, {'connected_gene': 'FOXJ3', 'score': 30.23}, {'connected_gene': 'PPIH', 'score': 15.09}, {'connected_gene': 'HIVEP3', 'score': 4.75}, {'connected_gene': 'RIMKLA', 'score': 2.6}]
chr1 GH01I042267 42266410 42266559 0.43 [{'connected_gene': 'GC01M042279', 'score': 0.39}, {'connected_gene': 'PIR49391', 'score': 0.39}, {'connected_gene': 'FOXJ3', 'score': 0.2}, {'connected_gene': 'GC01P042164', 'score': 0.15}]
chr1 GH01I042256 42256674 42257549 0.31 [{'connected_gene': 'GC01M042279', 'score': 0.34}, {'connected_gene': 'PIR49391', 'score': 0.34}, {'connected_gene': 'FOXJ3', 'score': 0.18}, {'connected_gene': 'GC01P042164', 'score': 0.16}]
chr1 GH01I042278 42278323 42280354 0.38 [{'connected_gene': 'GC01M042279', 'score': 550.77}, {'connected_gene': 'PIR49391', 'score': 550.77}, {'connected_gene': 'FOXJ3', 'score': 7.33}]
chr1 GH01I042266 42266610 42266759 0.38 [{'connected_gene': 'GC01M042279', 'score': 0.39}, {'connected_gene': 'PIR49391', 'score': 0.39}, {'connected_gene': 'FOXJ3', 'score': 0.2}, {'connected_gene': 'GC01P042164', 'score': 0.15}]
chr1 GH01I042226 42226201 42226400 0.38 [{'connected_gene': 'GC01M042279', 'score': 0.23}, {'connected_gene': 'PIR49391', 'score': 0.23}, {'connected_gene': 'GC01P042164', 'score': 0.21}, {'connected_gene': 'FOXJ3', 'score': 0.14}]

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