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
ENST00000452259 [[45205489, 45205674], [45206584, 45206679], [45213055, 45213157], [45213323, 45213372], [45216113, 45216236], [45219404, 45219505], [45220421, 45220517], [45221600, 45221655], [45221746, 45221909], [45223227, 45223318], [45223579, 45223643]] [[45205604, 45205674], [45206584, 45206679], [45213055, 45213157], [45213323, 45213372], [45216113, 45216236], [45219404, 45219505], [45220421, 45220517], [45221600, 45221655], [45221746, 45221909], [45223227, 45223318], [45223579, 45223643]]
ENST00000372224 [[45205491, 45205674], [45206584, 45206679], [45213055, 45213157], [45213323, 45213372], [45216113, 45216236], [45218803, 45218926], [45219404, 45219505], [45220421, 45220517], [45221600, 45221655], [45221746, 45221909], [45223227, 45223318], [45223579, 45223643], [45223720, 45223812], [45224877, 45225020], [45225951, 45226156], [45226263, 45226374], [45227587, 45227655], [45228017, 45228123], [45228216, 45228330], [45232497, 45232621], [45232768, 45233439]] [[45205604, 45205674], [45206584, 45206679], [45213055, 45213157], [45213323, 45213372], [45216113, 45216236], [45218803, 45218926], [45219404, 45219505], [45220421, 45220517], [45221600, 45221655], [45221746, 45221909], [45223227, 45223318], [45223579, 45223643], [45223720, 45223812], [45224877, 45225020], [45225951, 45226156], [45226263, 45226374], [45227587, 45227655], [45228017, 45228123], [45228216, 45228330], [45232497, 45232621], [45232768, 45232851]]
ENST00000493027 [[45205496, 45205674], [45206584, 45206679], [45213055, 45213157], [45213323, 45213372], [45216113, 45216236], [45219404, 45219505], [45220421, 45220517], [45221714, 45221909], [45223227, 45223318], [45223579, 45223640]] None
ENST00000372218 [[45205533, 45205674], [45206584, 45206679], [45213055, 45213157], [45213323, 45213372], [45216113, 45216236], [45219404, 45219505], [45220421, 45220517], [45221600, 45221655], [45221746, 45221909], [45223227, 45223318], [45223579, 45223643], [45223720, 45223812], [45224877, 45225020], [45225951, 45226156], [45226263, 45226374], [45227587, 45227655], [45228017, 45228123], [45228216, 45228330], [45232497, 45232621], [45232768, 45233436]] [[45205604, 45205674], [45206584, 45206679], [45213055, 45213157], [45213323, 45213372], [45216113, 45216236], [45219404, 45219505], [45220421, 45220517], [45221600, 45221655], [45221746, 45221909], [45223227, 45223318], [45223579, 45223643], [45223720, 45223812], [45224877, 45225020], [45225951, 45226156], [45226263, 45226374], [45227587, 45227655], [45228017, 45228123], [45228216, 45228330], [45232497, 45232621], [45232768, 45232851]]
ENST00000455186 [[45205624, 45205714], [45206584, 45206679], [45213055, 45213157], [45213323, 45213372], [45216113, 45216236], [45218803, 45218926], [45219404, 45219505], [45220421, 45220517], [45221600, 45221655], [45221746, 45221820]] [[45205671, 45205714], [45206584, 45206679], [45213055, 45213157], [45213323, 45213372], [45216113, 45216236], [45218803, 45218926], [45219404, 45219505], [45220421, 45220517], [45221600, 45221655], [45221746, 45221820]]
ENST00000372222 [[45212065, 45212118], [45213055, 45213157], [45213323, 45213372], [45216113, 45216236], [45218803, 45218926], [45219404, 45219505], [45220421, 45220517], [45221600, 45221655], [45221746, 45221909], [45223227, 45223318], [45223579, 45223643], [45223720, 45223812], [45224877, 45225020], [45225951, 45226156], [45226263, 45226374], [45227587, 45227655], [45228017, 45228123], [45228216, 45228330], [45232497, 45232621], [45232768, 45232880]] [[45216136, 45216236], [45218803, 45218926], [45219404, 45219505], [45220421, 45220517], [45221600, 45221655], [45221746, 45221909], [45223227, 45223318], [45223579, 45223643], [45223720, 45223812], [45224877, 45225020], [45225951, 45226156], [45226263, 45226374], [45227587, 45227655], [45228017, 45228123], [45228216, 45228330], [45232497, 45232621], [45232768, 45232851]]
ENST00000372217 [[45212077, 45212431], [45213055, 45213157], [45213323, 45213372], [45216113, 45216236], [45218803, 45218926], [45219404, 45219505], [45220421, 45220517], [45221600, 45221655], [45221746, 45221909], [45223227, 45223318], [45223579, 45223643], [45223720, 45223812], [45224877, 45225020], [45225951, 45226156], [45226263, 45226374], [45227587, 45227655], [45228017, 45228123], [45228216, 45228330], [45232497, 45232621], [45232768, 45233439]] [[45212428, 45212431], [45213055, 45213157], [45213323, 45213372], [45216113, 45216236], [45218803, 45218926], [45219404, 45219505], [45220421, 45220517], [45221600, 45221655], [45221746, 45221909], [45223227, 45223318], [45223579, 45223643], [45223720, 45223812], [45224877, 45225020], [45225951, 45226156], [45226263, 45226374], [45227587, 45227655], [45228017, 45228123], [45228216, 45228330], [45232497, 45232621], [45232768, 45232851]]
ENST00000480574 [[45212077, 45212431], [45213055, 45213157], [45213323, 45213372], [45215980, 45216236], [45218803, 45218825]] None
ENST00000423289 [[45226151, 45226156], [45226263, 45226374], [45227587, 45227655], [45227900, 45227967], [45228216, 45228285]] [[45226151, 45226156], [45226263, 45226374], [45227587, 45227655], [45227900, 45227967], [45228216, 45228285]]
ENST00000472235 [[45227811, 45228123], [45228216, 45228330], [45232497, 45232551]] None
NM_001297655 [[45205489, 45205674], [45206584, 45206679], [45213055, 45213157], [45213323, 45213372], [45216113, 45216236], [45219404, 45219505], [45220421, 45220517], [45221600, 45221655], [45221746, 45221909], [45223227, 45223318], [45223579, 45223643], [45223720, 45223812], [45224877, 45225020], [45225951, 45226156], [45226263, 45226374], [45227587, 45227655], [45228017, 45228123], [45228216, 45228330], [45232497, 45232621], [45232768, 45233439]] [[45205604, 45205674], [45206584, 45206679], [45213055, 45213157], [45213323, 45213372], [45216113, 45216236], [45219404, 45219505], [45220421, 45220517], [45221600, 45221655], [45221746, 45221909], [45223227, 45223318], [45223579, 45223643], [45223720, 45223812], [45224877, 45225020], [45225951, 45226156], [45226263, 45226374], [45227587, 45227655], [45228017, 45228123], [45228216, 45228330], [45232497, 45232621], [45232768, 45232851]]
NM_006845 [[45205489, 45205674], [45206584, 45206679], [45213055, 45213157], [45213323, 45213372], [45216113, 45216236], [45218803, 45218926], [45219404, 45219505], [45220421, 45220517], [45221600, 45221655], [45221746, 45221909], [45223227, 45223318], [45223579, 45223643], [45223720, 45223812], [45224877, 45225020], [45225951, 45226156], [45226263, 45226374], [45227587, 45227655], [45228017, 45228123], [45228216, 45228330], [45232497, 45232621], [45232768, 45233439]] [[45205604, 45205674], [45206584, 45206679], [45213055, 45213157], [45213323, 45213372], [45216113, 45216236], [45218803, 45218926], [45219404, 45219505], [45220421, 45220517], [45221600, 45221655], [45221746, 45221909], [45223227, 45223318], [45223579, 45223643], [45223720, 45223812], [45224877, 45225020], [45225951, 45226156], [45226263, 45226374], [45227587, 45227655], [45228017, 45228123], [45228216, 45228330], [45232497, 45232621], [45232768, 45232851]]
NM_001297657 [[45212033, 45212118], [45213055, 45213157], [45213323, 45213372], [45216113, 45216236], [45218803, 45218926], [45219404, 45219505], [45220421, 45220517], [45221600, 45221655], [45221746, 45221909], [45223227, 45223318], [45223579, 45223643], [45223720, 45223812], [45224877, 45225020], [45225951, 45226156], [45226263, 45226374], [45227587, 45227655], [45228017, 45228123], [45228216, 45228330], [45232497, 45232621], [45232768, 45233439]] [[45216136, 45216236], [45218803, 45218926], [45219404, 45219505], [45220421, 45220517], [45221600, 45221655], [45221746, 45221909], [45223227, 45223318], [45223579, 45223643], [45223720, 45223812], [45224877, 45225020], [45225951, 45226156], [45226263, 45226374], [45227587, 45227655], [45228017, 45228123], [45228216, 45228330], [45232497, 45232621], [45232768, 45232851]]
NM_001297656 [[45212033, 45212431], [45213055, 45213157], [45213323, 45213372], [45216113, 45216236], [45218803, 45218926], [45219404, 45219505], [45220421, 45220517], [45221600, 45221655], [45221746, 45221909], [45223227, 45223318], [45223579, 45223643], [45223720, 45223812], [45224877, 45225020], [45225951, 45226156], [45226263, 45226374], [45227587, 45227655], [45228017, 45228123], [45228216, 45228330], [45232497, 45232621], [45232768, 45233439]] [[45212428, 45212431], [45213055, 45213157], [45213323, 45213372], [45216113, 45216236], [45218803, 45218926], [45219404, 45219505], [45220421, 45220517], [45221600, 45221655], [45221746, 45221909], [45223227, 45223318], [45223579, 45223643], [45223720, 45223812], [45224877, 45225020], [45225951, 45226156], [45226263, 45226374], [45227587, 45227655], [45228017, 45228123], [45228216, 45228330], [45232497, 45232621], [45232768, 45232851]]
Promoter
Chrom Start End Description
chr1 45205478 45205492 CAGE_peak_4_at_KIF2C_5end
chr1 45205498 45205554 CAGE_peak_1_at_KIF2C_5end
chr1 45205560 45205575 CAGE_peak_2_at_KIF2C_5end
chr1 45205577 45205589 CAGE_peak_3_at_KIF2C_5end
chr1 45205591 45205598 CAGE_peak_5_at_KIF2C_5end
chr1 45212051 45212071 CAGE_peak_8_at_KIF2C_5end
chr1 45212074 45212100 CAGE_peak_7_at_KIF2C_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I044354 44354354 44355998 2 [{'connected_gene': 'ERI3', 'score': 550.77}, {'connected_gene': 'DMAP1', 'score': 23.79}, {'connected_gene': 'TOE1', 'score': 14.08}, {'connected_gene': 'SZT2', 'score': 12.9}, {'connected_gene': 'ERI3-IT1', 'score': 11.31}, {'connected_gene': 'KIF2C', 'score': 10.29}, {'connected_gene': 'GC01P044305', 'score': 0.25}]
chr1 GH01I044752 44752791 44754165 0.2 [{'connected_gene': 'UROD', 'score': 10.41}, {'connected_gene': 'KIF2C', 'score': 0.39}, {'connected_gene': 'RPS8', 'score': 0.34}]
chr1 GH01I044774 44774349 44778087 2.34 [{'connected_gene': 'RPS8', 'score': 609.02}, {'connected_gene': 'GC01P044833', 'score': 550.77}, {'connected_gene': 'GC01P044811', 'score': 550.77}, {'connected_gene': 'SNORD46', 'score': 550.77}, {'connected_gene': 'GC01P044830', 'score': 550.77}, {'connected_gene': 'GC01P044822', 'score': 550.77}, {'connected_gene': 'ENSG00000225721', 'score': 550.77}, {'connected_gene': 'SNORD38A', 'score': 550.77}, {'connected_gene': 'GC01P044831', 'score': 550.77}, {'connected_gene': 'GC01P044828', 'score': 550.77}, {'connected_gene': 'SNORD55', 'score': 550.77}, {'connected_gene': 'TOE1', 'score': 99.57}, {'connected_gene': 'GPBP1L1', 'score': 96.81}, {'connected_gene': 'RPL7AP16', 'score': 55.74}, {'connected_gene': 'MUTYH', 'score': 54.72}, {'connected_gene': 'DMAP1', 'score': 45.54}, {'connected_gene': 'NASP', 'score': 30.2}, {'connected_gene': 'HECTD3', 'score': 28.68}, {'connected_gene': 'KIF2C', 'score': 21.7}, {'connected_gene': 'RPS15AP10', 'score': 21.02}, {'connected_gene': 'ZSWIM5', 'score': 20.11}, {'connected_gene': 'TMEM69', 'score': 18.48}, {'connected_gene': 'ARTN', 'score': 12.86}, {'connected_gene': 'LOC101929609', 'score': 10.87}, {'connected_gene': 'TESK2', 'score': 10.76}, {'connected_gene': 'PTCH2', 'score': 10.37}, {'connected_gene': 'UROD', 'score': 7.06}, {'connected_gene': 'BEST4', 'score': 6.59}, {'connected_gene': 'MMACHC', 'score': 3.87}]
chr1 GH01I044831 44830001 44830200 0.43 [{'connected_gene': 'GPBP1L1', 'score': 15.96}, {'connected_gene': 'RPL7AP16', 'score': 14.59}, {'connected_gene': 'TOE1', 'score': 13.66}, {'connected_gene': 'TCTEX1D4', 'score': 12.89}, {'connected_gene': 'BTBD19', 'score': 12.89}, {'connected_gene': 'PLK3', 'score': 12.85}, {'connected_gene': 'BEST4', 'score': 11.68}, {'connected_gene': 'RPS15AP10', 'score': 11.4}, {'connected_gene': 'RNU5D-1', 'score': 11.1}, {'connected_gene': 'KIF2C', 'score': 11.09}, {'connected_gene': 'PPIAP35', 'score': 10.56}, {'connected_gene': 'EIF2B3', 'score': 10.56}, {'connected_gene': 'MUTYH', 'score': 9.84}, {'connected_gene': 'RNU5E-6P', 'score': 0.39}, {'connected_gene': 'PTCH2', 'score': 0.39}]
chr1 GH01I044212 44212324 44214640 2.16 [{'connected_gene': 'DMAP1', 'score': 600.11}, {'connected_gene': 'SZT2', 'score': 141.54}, {'connected_gene': 'HYI', 'score': 42.78}, {'connected_gene': 'KDM4A-AS1', 'score': 40.77}, {'connected_gene': 'ARTN', 'score': 38.15}, {'connected_gene': 'LOC101929609', 'score': 30.01}, {'connected_gene': 'RPS8', 'score': 30.0}, {'connected_gene': 'HECTD3', 'score': 29.15}, {'connected_gene': 'PTCH2', 'score': 22.93}, {'connected_gene': 'KDM4A', 'score': 22.71}, {'connected_gene': 'MED8', 'score': 21.01}, {'connected_gene': 'CCDC24', 'score': 19.38}, {'connected_gene': 'KIF2C', 'score': 11.36}, {'connected_gene': 'RNF220', 'score': 10.23}, {'connected_gene': 'LOC105378687', 'score': 10.21}, {'connected_gene': 'ERI3', 'score': 9.66}, {'connected_gene': 'HYI-AS1', 'score': 9.65}, {'connected_gene': 'GC01P044238', 'score': 0.34}]
chr1 GH01I044616 44616581 44620805 1.54 [{'connected_gene': 'MUTYH', 'score': 12.49}, {'connected_gene': 'ARTN', 'score': 12.4}, {'connected_gene': 'KIF2C', 'score': 11.95}, {'connected_gene': 'RNU6-369P', 'score': 10.7}, {'connected_gene': 'DMAP1', 'score': 9.7}, {'connected_gene': 'C1orf228', 'score': 5.9}, {'connected_gene': 'PIR47647', 'score': 0.39}, {'connected_gene': 'MIR5584', 'score': 0.19}, {'connected_gene': 'RNF220', 'score': 0.08}]
chr1 GH01I044834 44834201 44834400 0.56 [{'connected_gene': 'TCTEX1D4', 'score': 12.87}, {'connected_gene': 'BTBD19', 'score': 12.87}, {'connected_gene': 'PLK3', 'score': 12.85}, {'connected_gene': 'UROD', 'score': 11.89}, {'connected_gene': 'BEST4', 'score': 11.67}, {'connected_gene': 'RNU5D-1', 'score': 11.09}, {'connected_gene': 'KIF2C', 'score': 11.09}, {'connected_gene': 'PPIAP35', 'score': 10.56}, {'connected_gene': 'EIF2B3', 'score': 10.56}, {'connected_gene': 'PTCH2', 'score': 0.44}, {'connected_gene': 'RNU5E-6P', 'score': 0.39}]
chr1 GH01I044830 44830383 44831810 0.76 [{'connected_gene': 'TCTEX1D4', 'score': 12.89}, {'connected_gene': 'BTBD19', 'score': 12.89}, {'connected_gene': 'PLK3', 'score': 12.85}, {'connected_gene': 'RPS8', 'score': 12.81}, {'connected_gene': 'BEST4', 'score': 11.68}, {'connected_gene': 'RNU5D-1', 'score': 11.1}, {'connected_gene': 'KIF2C', 'score': 11.09}, {'connected_gene': 'PPIAP35', 'score': 10.56}, {'connected_gene': 'EIF2B3', 'score': 10.56}, {'connected_gene': 'UROD', 'score': 8.02}, {'connected_gene': 'RNU5E-6P', 'score': 0.39}, {'connected_gene': 'PTCH2', 'score': 0.39}]
chr1 GH01I044706 44706222 44708600 1.26 [{'connected_gene': 'C1orf228', 'score': 11.75}, {'connected_gene': 'TMEM53', 'score': 11.75}, {'connected_gene': 'RNU5D-1', 'score': 11.57}, {'connected_gene': 'KIF2C', 'score': 10.76}, {'connected_gene': 'RNF220', 'score': 8.72}, {'connected_gene': 'GC01P044699', 'score': 0.44}, {'connected_gene': 'GC01M044722', 'score': 0.39}, {'connected_gene': 'RNU5F-1', 'score': 0.39}, {'connected_gene': 'LOC105378690', 'score': 0.37}]
chr1 GH01I044671 44671928 44678273 2.28 [{'connected_gene': 'C1orf228', 'score': 561.64}, {'connected_gene': 'TMEM53', 'score': 550.77}, {'connected_gene': 'TOE1', 'score': 24.56}, {'connected_gene': 'MUTYH', 'score': 20.51}, {'connected_gene': 'ARTN', 'score': 11.9}, {'connected_gene': 'RNU5F-1', 'score': 11.62}, {'connected_gene': 'NASP', 'score': 11.41}, {'connected_gene': 'KIF2C', 'score': 10.45}, {'connected_gene': 'BTBD19', 'score': 5.43}, {'connected_gene': 'RPS8', 'score': 4.11}, {'connected_gene': 'GC01P044699', 'score': 0.34}]
chr1 GH01I044729 44729976 44732771 1.83 [{'connected_gene': 'RNU5D-1', 'score': 550.77}, {'connected_gene': 'GC01M044732', 'score': 550.77}, {'connected_gene': 'GPBP1L1', 'score': 106.76}, {'connected_gene': 'TOE1', 'score': 92.81}, {'connected_gene': 'RPL7AP16', 'score': 82.08}, {'connected_gene': 'RPS8', 'score': 65.28}, {'connected_gene': 'HECTD3', 'score': 58.09}, {'connected_gene': 'RPS15AP10', 'score': 31.63}, {'connected_gene': 'NASP', 'score': 21.67}, {'connected_gene': 'TMEM69', 'score': 19.23}, {'connected_gene': 'MUTYH', 'score': 14.18}, {'connected_gene': 'TESK2', 'score': 10.76}, {'connected_gene': 'UROD', 'score': 6.52}, {'connected_gene': 'BEST4', 'score': 6.29}, {'connected_gene': 'KIF2C', 'score': 5.93}, {'connected_gene': 'BTBD19', 'score': 5.47}, {'connected_gene': 'ATP6V0B', 'score': 4.58}, {'connected_gene': 'PIR60865', 'score': 0.44}]
chr1 GH01I044746 44746364 44746423 0.5 [{'connected_gene': 'KIF2C', 'score': 550.44}, {'connected_gene': 'ENSG00000225721', 'score': 11.98}, {'connected_gene': 'RPS8', 'score': 11.98}, {'connected_gene': 'SNORD46', 'score': 11.96}, {'connected_gene': 'SNORD38A', 'score': 11.96}, {'connected_gene': 'RNU5F-1', 'score': 11.38}, {'connected_gene': 'PLK3', 'score': 11.27}, {'connected_gene': 'TCTEX1D4', 'score': 11.25}, {'connected_gene': 'BTBD19', 'score': 11.25}, {'connected_gene': 'C1orf228', 'score': 11.24}, {'connected_gene': 'BEST4', 'score': 11.16}]
chr1 GH01I044742 44742654 44743700 0.46 [{'connected_gene': 'KIF2C', 'score': 0.77}, {'connected_gene': 'RPS8', 'score': 0.29}]
chr1 GH01I045489 45489789 45492029 2.06 [{'connected_gene': 'TESK2', 'score': 550.77}, {'connected_gene': 'CCDC163', 'score': 98.58}, {'connected_gene': 'NSUN4', 'score': 28.55}, {'connected_gene': 'PRDX1', 'score': 25.58}, {'connected_gene': 'LRRC41', 'score': 22.72}, {'connected_gene': 'TOE1', 'score': 14.16}, {'connected_gene': 'IPP', 'score': 12.89}, {'connected_gene': 'GPBP1L1', 'score': 11.61}, {'connected_gene': 'KIF2C', 'score': 10.27}, {'connected_gene': 'ZSWIM5', 'score': 6.46}, {'connected_gene': 'MMACHC', 'score': 4.86}, {'connected_gene': 'PPIAP36', 'score': 0.18}]
chr1 GH01I043841 43841019 43842515 0.38 [{'connected_gene': 'KDM4A-AS1', 'score': 22.92}, {'connected_gene': 'SZT2', 'score': 13.28}, {'connected_gene': 'ARTN', 'score': 11.36}, {'connected_gene': 'KIF2C', 'score': 11.36}, {'connected_gene': 'LOC101929609', 'score': 11.16}, {'connected_gene': 'IPO13', 'score': 11.16}, {'connected_gene': 'LOC101929592', 'score': 10.66}, {'connected_gene': 'ST3GAL3', 'score': 10.64}, {'connected_gene': 'MED8', 'score': 10.23}, {'connected_gene': 'MIR6079', 'score': 0.77}, {'connected_gene': 'SHMT1P1', 'score': 0.39}]
chr1 GH01I043969 43969349 43970939 1.97 [{'connected_gene': 'PIR55688', 'score': 550.77}, {'connected_gene': 'DPH2', 'score': 550.77}, {'connected_gene': 'ATP6V0B', 'score': 19.82}, {'connected_gene': 'SZT2', 'score': 12.91}, {'connected_gene': 'KIF2C', 'score': 10.27}]
chr1 GH01I044739 44739001 44741110 2.28 [{'connected_gene': 'PIR60865', 'score': 550.77}, {'connected_gene': 'KIF2C', 'score': 550.77}, {'connected_gene': 'GPBP1L1', 'score': 16.74}, {'connected_gene': 'TOE1', 'score': 14.65}, {'connected_gene': 'RPL7AP16', 'score': 12.96}, {'connected_gene': 'UROD', 'score': 10.59}, {'connected_gene': 'HECTD3', 'score': 10.35}, {'connected_gene': 'DMAP1', 'score': 10.0}, {'connected_gene': 'BEST4', 'score': 6.64}, {'connected_gene': 'CCDC163', 'score': 4.9}, {'connected_gene': 'RPS8', 'score': 0.28}]

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