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
ENST00000535157 [[78109808, 78109959], [78129991, 78130053], [78130730, 78130848], [78133938, 78133998], [78137965, 78138034], [78141814, 78141883], [78142429, 78142468], [78143505, 78143586], [78163278, 78163359], [78165529, 78165595], [78167648, 78167708], [78171679, 78171724], [78173463, 78173523], [78173823, 78173883], [78176199, 78176259], [78176788, 78176848], [78177210, 78177270], [78182190, 78182250], [78183192, 78183252], [78184181, 78184241], [78187025, 78187076], [78188027, 78188090], [78191733, 78191793], [78191937, 78191997], [78192138, 78192195], [78202081, 78202144], [78208513, 78208585], [78211254, 78211329], [78214810, 78214919], [78216840, 78216943], [78218392, 78219394]] [[78130010, 78130053], [78130730, 78130848], [78133938, 78133998], [78137965, 78138034], [78141814, 78141883], [78142429, 78142468], [78143505, 78143586], [78163278, 78163359], [78165529, 78165595], [78167648, 78167708], [78171679, 78171724], [78173463, 78173523], [78173823, 78173883], [78176199, 78176259], [78176788, 78176848], [78177210, 78177270], [78182190, 78182250], [78183192, 78183252], [78184181, 78184241], [78187025, 78187076], [78188027, 78188090], [78191733, 78191793], [78191937, 78191997], [78192138, 78192195], [78202081, 78202144], [78208513, 78208585], [78211254, 78211329], [78214810, 78214919], [78216840, 78216943], [78218392, 78218409]]
ENST00000471491 [[78109858, 78109959], [78129991, 78130053], [78130730, 78130848], [78133938, 78133998], [78137965, 78138034], [78142429, 78142468], [78143505, 78143586], [78146258, 78146324], [78163278, 78163359], [78165529, 78165595], [78171679, 78171724], [78173463, 78173523], [78173823, 78173883], [78176199, 78177270], [78178490, 78178550], [78182190, 78182250], [78183192, 78183252], [78184181, 78184241], [78187025, 78187075]] [[78130010, 78130053], [78130730, 78130848], [78133938, 78133998], [78137965, 78138034], [78142429, 78142468], [78143505, 78143586], [78146258, 78146324], [78163278, 78163359], [78165529, 78165595], [78171679, 78171724], [78173463, 78173523], [78173823, 78173883], [78176199, 78176263]]
ENST00000377246 [[78109893, 78109959], [78129991, 78130053], [78130730, 78130848], [78133938, 78133998], [78137965, 78138034], [78141814, 78141883], [78142429, 78142468], [78143505, 78143586], [78146258, 78146324], [78163278, 78163359], [78165529, 78165595], [78171679, 78171724], [78173463, 78173523], [78173823, 78173883], [78176199, 78176259], [78176788, 78176848], [78177210, 78177270], [78178490, 78178550], [78182190, 78182250], [78183192, 78183252], [78184181, 78184241], [78187025, 78187076], [78188027, 78188090], [78191733, 78191793], [78191937, 78191997], [78192138, 78192195], [78202081, 78202144], [78208513, 78208585], [78211254, 78211329], [78214810, 78214919], [78216840, 78216943], [78218392, 78219398]] [[78130010, 78130053], [78130730, 78130848], [78133938, 78133998], [78137965, 78138034], [78141814, 78141883], [78142429, 78142468], [78143505, 78143586], [78146258, 78146324], [78163278, 78163359], [78165529, 78165595], [78171679, 78171724], [78173463, 78173523], [78173823, 78173883], [78176199, 78176259], [78176788, 78176848], [78177210, 78177270], [78178490, 78178550], [78182190, 78182250], [78183192, 78183252], [78184181, 78184241], [78187025, 78187076], [78188027, 78188090], [78191733, 78191793], [78191937, 78191997], [78192138, 78192195], [78202081, 78202144], [78208513, 78208585], [78211254, 78211329], [78214810, 78214919], [78216840, 78216943], [78218392, 78218409]]
ENST00000349847 [[78109894, 78109959], [78129991, 78130053], [78130730, 78130848], [78133938, 78133998], [78137965, 78138034], [78141814, 78141883], [78142429, 78142468], [78143505, 78143586], [78146258, 78146324], [78163278, 78163359], [78165529, 78165595], [78167648, 78167708], [78171679, 78171724], [78173463, 78173523], [78173823, 78173883], [78176199, 78176259], [78176788, 78176848], [78177210, 78177270], [78178490, 78178550], [78182190, 78182250], [78183192, 78183252], [78184181, 78184241], [78187025, 78187076], [78188027, 78188090], [78191733, 78191793], [78191937, 78191997], [78192138, 78192195], [78202081, 78202144], [78208513, 78208585], [78211254, 78211329], [78214810, 78214919], [78216840, 78216943], [78218392, 78218644]] [[78130010, 78130053], [78130730, 78130848], [78133938, 78133998], [78137965, 78138034], [78141814, 78141883], [78142429, 78142468], [78143505, 78143586], [78146258, 78146324], [78163278, 78163359], [78165529, 78165595], [78167648, 78167708], [78171679, 78171724], [78173463, 78173523], [78173823, 78173883], [78176199, 78176259], [78176788, 78176848], [78177210, 78177270], [78178490, 78178550], [78182190, 78182250], [78183192, 78183252], [78184181, 78184241], [78187025, 78187076], [78188027, 78188090], [78191733, 78191793], [78191937, 78191997], [78192138, 78192195], [78202081, 78202144], [78208513, 78208585], [78211254, 78211329], [78214810, 78214919], [78216840, 78216943], [78218392, 78218409]]
ENST00000469982 [[78171162, 78171250], [78171679, 78171724], [78173823, 78173883], [78176199, 78176259], [78182190, 78182250], [78183192, 78183252], [78184181, 78184241], [78187025, 78187076], [78188027, 78188090], [78191733, 78191776]] None
NM_001160706 [[78109808, 78109959], [78129991, 78130053], [78130730, 78130848], [78133938, 78133998], [78137965, 78138034], [78141814, 78141883], [78142429, 78142468], [78143505, 78143586], [78163278, 78163359], [78165529, 78165595], [78167648, 78167708], [78171679, 78171724], [78173463, 78173523], [78173823, 78173883], [78176199, 78176259], [78176788, 78176848], [78177210, 78177270], [78182190, 78182250], [78183192, 78183252], [78184181, 78184241], [78187025, 78187076], [78188027, 78188090], [78191733, 78191793], [78191937, 78191997], [78192138, 78192195], [78202081, 78202144], [78208513, 78208585], [78211254, 78211329], [78214810, 78214919], [78216840, 78216943], [78218392, 78219398]] [[78130010, 78130053], [78130730, 78130848], [78133938, 78133998], [78137965, 78138034], [78141814, 78141883], [78142429, 78142468], [78143505, 78143586], [78163278, 78163359], [78165529, 78165595], [78167648, 78167708], [78171679, 78171724], [78173463, 78173523], [78173823, 78173883], [78176199, 78176259], [78176788, 78176848], [78177210, 78177270], [78182190, 78182250], [78183192, 78183252], [78184181, 78184241], [78187025, 78187076], [78188027, 78188090], [78191733, 78191793], [78191937, 78191997], [78192138, 78192195], [78202081, 78202144], [78208513, 78208585], [78211254, 78211329], [78214810, 78214919], [78216840, 78216943], [78218392, 78218409]]
NM_003843 [[78109808, 78109959], [78129991, 78130053], [78130730, 78130848], [78133938, 78133998], [78137965, 78138034], [78141814, 78141883], [78142429, 78142468], [78143505, 78143586], [78146258, 78146324], [78163278, 78163359], [78165529, 78165595], [78171679, 78171724], [78173463, 78173523], [78173823, 78173883], [78176199, 78176259], [78176788, 78176848], [78177210, 78177270], [78178490, 78178550], [78182190, 78182250], [78183192, 78183252], [78184181, 78184241], [78187025, 78187076], [78188027, 78188090], [78191733, 78191793], [78191937, 78191997], [78192138, 78192195], [78202081, 78202144], [78208513, 78208585], [78211254, 78211329], [78214810, 78214919], [78216840, 78216943], [78218392, 78219398]] [[78130010, 78130053], [78130730, 78130848], [78133938, 78133998], [78137965, 78138034], [78141814, 78141883], [78142429, 78142468], [78143505, 78143586], [78146258, 78146324], [78163278, 78163359], [78165529, 78165595], [78171679, 78171724], [78173463, 78173523], [78173823, 78173883], [78176199, 78176259], [78176788, 78176848], [78177210, 78177270], [78178490, 78178550], [78182190, 78182250], [78183192, 78183252], [78184181, 78184241], [78187025, 78187076], [78188027, 78188090], [78191733, 78191793], [78191937, 78191997], [78192138, 78192195], [78202081, 78202144], [78208513, 78208585], [78211254, 78211329], [78214810, 78214919], [78216840, 78216943], [78218392, 78218409]]
NM_144777 [[78109808, 78109959], [78129991, 78130053], [78130730, 78130848], [78133938, 78133998], [78137965, 78138034], [78141814, 78141883], [78142429, 78142468], [78143505, 78143586], [78146258, 78146324], [78163278, 78163359], [78165529, 78165595], [78167648, 78167708], [78171679, 78171724], [78173463, 78173523], [78173823, 78173883], [78176199, 78176259], [78176788, 78176848], [78177210, 78177270], [78178490, 78178550], [78182190, 78182250], [78183192, 78183252], [78184181, 78184241], [78187025, 78187076], [78188027, 78188090], [78191733, 78191793], [78191937, 78191997], [78192138, 78192195], [78202081, 78202144], [78208513, 78208585], [78211254, 78211329], [78214810, 78214919], [78216840, 78216943], [78218392, 78219398]] [[78130010, 78130053], [78130730, 78130848], [78133938, 78133998], [78137965, 78138034], [78141814, 78141883], [78142429, 78142468], [78143505, 78143586], [78146258, 78146324], [78163278, 78163359], [78165529, 78165595], [78167648, 78167708], [78171679, 78171724], [78173463, 78173523], [78173823, 78173883], [78176199, 78176259], [78176788, 78176848], [78177210, 78177270], [78178490, 78178550], [78182190, 78182250], [78183192, 78183252], [78184181, 78184241], [78187025, 78187076], [78188027, 78188090], [78191733, 78191793], [78191937, 78191997], [78192138, 78192195], [78202081, 78202144], [78208513, 78208585], [78211254, 78211329], [78214810, 78214919], [78216840, 78216943], [78218392, 78218409]]
Promoter
Chrom Start End Description
chr13 78109804 78109815 CAGE_peak_5_at_SCEL_5end
chr13 78109818 78109850 CAGE_peak_1_at_SCEL_5end
chr13 78109854 78109865 CAGE_peak_3_at_SCEL_5end
chr13 78109875 78109882 CAGE_peak_4_at_SCEL_5end
chr13 78109884 78109902 CAGE_peak_2_at_SCEL_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I077528 77528966 77529115 0.59 [{'connected_gene': 'SCEL', 'score': 0.44}, {'connected_gene': 'LOC105370271', 'score': 0.2}]
chr13 GH13I077507 77507506 77509899 0.77 [{'connected_gene': 'SCEL', 'score': 12.08}, {'connected_gene': 'LOC105370271', 'score': 0.25}]
chr13 GH13I077529 77529566 77529715 0.2 [{'connected_gene': 'SCEL', 'score': 0.44}, {'connected_gene': 'LOC105370271', 'score': 0.2}]
chr13 GH13I077520 77520791 77522808 0.69 [{'connected_gene': 'SCEL', 'score': 0.39}, {'connected_gene': 'LOC105370271', 'score': 0.22}]
chr13 GH13I077513 77513866 77514015 0.62 [{'connected_gene': 'SCEL', 'score': 12.1}, {'connected_gene': 'LOC105370271', 'score': 0.23}]
chr13 GH13I077535 77535266 77536146 0.81 [{'connected_gene': 'SCEL', 'score': 550.77}, {'connected_gene': 'SCEL-AS1', 'score': 0.19}]
chr13 GH13I077477 77477523 77479135 1.12 [{'connected_gene': 'MYCBP2', 'score': 12.15}, {'connected_gene': 'LOC105370271', 'score': 0.37}, {'connected_gene': 'SCEL', 'score': 0.22}]
chr13 GH13I077584 77584189 77584403 0.24 [{'connected_gene': 'SLAIN1', 'score': 25.86}, {'connected_gene': 'SCEL-AS1', 'score': 11.02}, {'connected_gene': 'EDNRB', 'score': 6.0}, {'connected_gene': 'MYCBP2', 'score': 1.43}, {'connected_gene': 'SCEL', 'score': 0.25}]
chr13 GH13I077515 77515931 77516926 0.99 [{'connected_gene': 'SCEL-AS1', 'score': 10.68}, {'connected_gene': 'SCEL', 'score': 0.37}, {'connected_gene': 'LOC105370271', 'score': 0.23}]
chr13 GH13I077558 77558601 77559235 0.87 [{'connected_gene': 'SCEL-AS1', 'score': 10.55}, {'connected_gene': 'SCEL', 'score': 0.34}]
chr13 GH13I077544 77544466 77544615 0.2 [{'connected_gene': 'SCEL-AS1', 'score': 10.19}, {'connected_gene': 'SCEL', 'score': 0.44}]
chr13 GH13I077493 77493186 77493335 0.6 [{'connected_gene': 'MYCBP2-AS2', 'score': 10.88}, {'connected_gene': 'LOC105370271', 'score': 0.29}, {'connected_gene': 'SCEL', 'score': 0.26}]