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
ENST00000314583 [[121350245, 121350829], [121350947, 121351031], [121351178, 121351410], [121351913, 121352018], [121353053, 121353265], [121354581, 121354651], [121355280, 121355336], [121355992, 121356103], [121361773, 121361828], [121363664, 121363775], [121366165, 121366295], [121376125, 121376199], [121377110, 121377194], [121379666, 121379758]] [[121350692, 121350829], [121350947, 121351031], [121351178, 121351410], [121351913, 121352018], [121353053, 121353265], [121354581, 121354651], [121355280, 121355336], [121355992, 121356103], [121361773, 121361828], [121363664, 121363775], [121366165, 121366295], [121376125, 121376199], [121377110, 121377194]]
ENST00000428394 [[121350561, 121350829], [121350947, 121351031], [121351178, 121351410], [121351913, 121352018], [121353053, 121353265], [121354581, 121354651], [121355280, 121355336], [121361773, 121361828], [121363664, 121363775], [121366165, 121366295], [121376125, 121376199], [121377110, 121377194], [121379666, 121379745]] [[121350692, 121350829], [121350947, 121351031], [121351178, 121351410], [121351913, 121352018], [121353053, 121353265], [121354581, 121354651], [121355280, 121355336], [121361773, 121361828], [121363664, 121363775], [121366165, 121366295], [121376125, 121376199], [121377110, 121377194]]
ENST00000495491 [[121351252, 121351410], [121351913, 121352018], [121353053, 121353265], [121354581, 121354651], [121355280, 121355336], [121355992, 121356103], [121363664, 121363775], [121366165, 121366295], [121376125, 121376199], [121377110, 121377194], [121379666, 121379774]] [[121354587, 121354651], [121355280, 121355336], [121355992, 121356103], [121363664, 121363775], [121366165, 121366295], [121376125, 121376199], [121377110, 121377194]]
ENST00000464274 [[121355992, 121356103], [121361773, 121361828], [121363664, 121363775], [121366165, 121366218], [121376125, 121376199], [121377110, 121377194], [121379666, 121379730]] [[121363758, 121363775], [121366165, 121366218], [121376125, 121376199], [121377110, 121377194]]
ENST00000487290 [[121362967, 121363567], [121363664, 121363775], [121366165, 121366295], [121376125, 121376199], [121377110, 121377194], [121379666, 121379745]] None
ENST00000481314 [[121363076, 121363775], [121366165, 121366295], [121376125, 121376199], [121377110, 121377194], [121379666, 121379748]] None
ENST00000497391 [[121363664, 121363775], [121366165, 121366329], [121376125, 121376199], [121377110, 121377194], [121379666, 121379766]] [[121366256, 121366329], [121376125, 121376199], [121377110, 121377194]]
ENST00000488033 [[121372411, 121372740], [121376125, 121376199], [121377110, 121377194], [121379666, 121379763]] None
ENST00000473883 [[121350246, 121350829], [121350947, 121351031], [121351178, 121351410], [121351913, 121352018], [121353053, 121353265], [121354581, 121354651], [121355280, 121355336], [121355992, 121356103], [121361773, 121363030]] None
ENST00000468693 [[121374905, 121375113], [121376048, 121376199], [121377110, 121377194], [121379666, 121379725]] None
ENST00000491824 [[121375737, 121376199], [121377110, 121377194], [121379666, 121379766]] None
ENST00000479994 [[121376828, 121377194], [121379666, 121379750]] None
NM_005335 [[121350244, 121350829], [121350947, 121351031], [121351178, 121351410], [121351913, 121352018], [121353053, 121353265], [121354581, 121354651], [121355280, 121355336], [121355992, 121356103], [121361773, 121361828], [121363664, 121363775], [121366165, 121366295], [121376125, 121376199], [121377110, 121377194], [121379666, 121379795]] [[121350692, 121350829], [121350947, 121351031], [121351178, 121351410], [121351913, 121352018], [121353053, 121353265], [121354581, 121354651], [121355280, 121355336], [121355992, 121356103], [121361773, 121361828], [121363664, 121363775], [121366165, 121366295], [121376125, 121376199], [121377110, 121377194]]
NM_001292041 [[121350244, 121350829], [121350947, 121351031], [121351178, 121351410], [121351913, 121352018], [121353053, 121353265], [121354581, 121354651], [121355280, 121355336], [121361773, 121361828], [121363664, 121363775], [121366165, 121366295], [121376125, 121376199], [121377110, 121377194], [121379666, 121379795]] [[121350692, 121350829], [121350947, 121351031], [121351178, 121351410], [121351913, 121352018], [121353053, 121353265], [121354581, 121354651], [121355280, 121355336], [121361773, 121361828], [121363664, 121363775], [121366165, 121366295], [121376125, 121376199], [121377110, 121377194]]
Promoter
Chrom Start End Description
chr3 121379739 121379771 CAGE_peak_1_at_HCLS1_5end
chr3 121379777 121379788 CAGE_peak_2_at_HCLS1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I122002 122002601 122005524 1.31 [{'connected_gene': 'IQCB1', 'score': 20.59}, {'connected_gene': 'SLC15A2', 'score': 14.73}, {'connected_gene': 'CD86', 'score': 13.94}, {'connected_gene': 'ENSG00000202388', 'score': 13.28}, {'connected_gene': 'ILDR1', 'score': 13.16}, {'connected_gene': 'CSTA', 'score': 1.54}, {'connected_gene': 'EAF2', 'score': 1.53}, {'connected_gene': 'HCLS1', 'score': 1.53}, {'connected_gene': 'LOC101927010', 'score': 0.37}, {'connected_gene': 'GC03M121324', 'score': 0.28}]
chr3 GH03I121994 121994028 121996283 1.21 [{'connected_gene': 'IQCB1', 'score': 21.22}, {'connected_gene': 'SLC15A2', 'score': 17.81}, {'connected_gene': 'EAF2', 'score': 12.82}, {'connected_gene': 'CD86', 'score': 10.88}, {'connected_gene': 'HCLS1', 'score': 1.43}, {'connected_gene': 'CSTA', 'score': 1.32}, {'connected_gene': 'LOC101927010', 'score': 0.44}, {'connected_gene': 'ENSG00000202388', 'score': 0.29}, {'connected_gene': 'GC03M121324', 'score': 0.26}, {'connected_gene': 'ILDR1', 'score': 0.2}]
chr3 GH03I121624 121624141 121625413 0.31 [{'connected_gene': 'IQCB1', 'score': 23.38}, {'connected_gene': 'SLC15A2', 'score': 6.37}, {'connected_gene': 'HCLS1', 'score': 5.89}, {'connected_gene': 'RN7SL172P', 'score': 0.31}, {'connected_gene': 'FBXO40', 'score': 0.29}, {'connected_gene': 'GC03M121324', 'score': 0.05}]
chr3 GH03I121625 121625611 121628282 0.2 [{'connected_gene': 'IQCB1', 'score': 23.38}, {'connected_gene': 'SLC15A2', 'score': 6.37}, {'connected_gene': 'HCLS1', 'score': 6.06}, {'connected_gene': 'RN7SL172P', 'score': 0.31}, {'connected_gene': 'FBXO40', 'score': 0.29}, {'connected_gene': 'GC03M121324', 'score': 0.05}]
chr3 GH03I121792 121792792 121795370 0.63 [{'connected_gene': 'IQCB1', 'score': 38.26}, {'connected_gene': 'EAF2', 'score': 11.32}, {'connected_gene': 'HCLS1', 'score': 5.59}, {'connected_gene': 'GOLGB1', 'score': 0.26}, {'connected_gene': 'GC03M121324', 'score': 0.07}]
chr3 GH03I121833 121833858 121837075 1.98 [{'connected_gene': 'IQCB1', 'score': 587.34}, {'connected_gene': 'EAF2', 'score': 550.77}, {'connected_gene': 'GOLGB1', 'score': 11.59}, {'connected_gene': 'HCLS1', 'score': 5.54}, {'connected_gene': 'SLC15A2', 'score': 4.11}, {'connected_gene': 'GC03M121324', 'score': 0.08}]
chr3 GH03I121808 121808455 121810511 0.9 [{'connected_gene': 'IQCB1', 'score': 27.25}, {'connected_gene': 'HCLS1', 'score': 5.54}, {'connected_gene': 'GOLGB1', 'score': 0.22}, {'connected_gene': 'GC03M121324', 'score': 0.07}]
chr3 GH03I121957 121957777 121958200 1.04 [{'connected_gene': 'CD86', 'score': 13.08}, {'connected_gene': 'IQCB1', 'score': 11.47}, {'connected_gene': 'HCLS1', 'score': 2.53}, {'connected_gene': 'EAF2', 'score': 1.57}, {'connected_gene': 'CSTA', 'score': 1.21}, {'connected_gene': 'GC03P121966', 'score': 0.44}, {'connected_gene': 'SLC15A2', 'score': 0.21}, {'connected_gene': 'GC03M121324', 'score': 0.18}]
chr3 GH03I122053 122053081 122053250 0.61 [{'connected_gene': 'CD86', 'score': 8.47}, {'connected_gene': 'HCLS1', 'score': 1.79}, {'connected_gene': 'EAF2', 'score': 1.6}, {'connected_gene': 'CSTA', 'score': 1.3}, {'connected_gene': 'ILDR1', 'score': 0.44}, {'connected_gene': 'GC03M121324', 'score': 0.39}]
chr3 GH03I122101 122101492 122102043 1.44 [{'connected_gene': 'CD86', 'score': 4.66}, {'connected_gene': 'DTX3L', 'score': 2.2}, {'connected_gene': 'PARP9', 'score': 1.98}, {'connected_gene': 'EAF2', 'score': 1.83}, {'connected_gene': 'HCLS1', 'score': 1.6}, {'connected_gene': 'ILDR1', 'score': 0.26}, {'connected_gene': 'CASR', 'score': 0.18}]
chr3 GH03I122074 122073100 122073207 0.56 [{'connected_gene': 'CD86', 'score': 8.6}, {'connected_gene': 'DTX3L', 'score': 7.71}, {'connected_gene': 'PARP9', 'score': 7.39}, {'connected_gene': 'HCLS1', 'score': 1.73}, {'connected_gene': 'EAF2', 'score': 1.67}, {'connected_gene': 'ILDR1', 'score': 0.39}, {'connected_gene': 'CASR', 'score': 0.14}]
chr3 GH03I122073 122073889 122080970 2.01 [{'connected_gene': 'CD86', 'score': 562.73}, {'connected_gene': 'ENSG00000202388', 'score': 12.36}, {'connected_gene': 'DTX3L', 'score': 10.76}, {'connected_gene': 'PARP9', 'score': 10.42}, {'connected_gene': 'CCDC58', 'score': 9.91}, {'connected_gene': 'FAM162A', 'score': 9.91}, {'connected_gene': 'IQCB1', 'score': 5.91}, {'connected_gene': 'EAF2', 'score': 1.77}, {'connected_gene': 'CSTA', 'score': 1.68}, {'connected_gene': 'HCLS1', 'score': 1.65}, {'connected_gene': 'ILDR1', 'score': 0.37}, {'connected_gene': 'CASR', 'score': 0.14}]
chr3 GH03I122065 122065768 122068616 1.32 [{'connected_gene': 'CASR', 'score': 10.49}, {'connected_gene': 'CD86', 'score': 3.27}, {'connected_gene': 'EAF2', 'score': 2.45}, {'connected_gene': 'HCLS1', 'score': 1.85}, {'connected_gene': 'PARP9', 'score': 1.67}, {'connected_gene': 'DTX3L', 'score': 1.5}, {'connected_gene': 'ILDR1', 'score': 0.44}]
chr3 GH03I122099 122099167 122101418 1.1 [{'connected_gene': 'PARP9', 'score': 9.36}, {'connected_gene': 'DTX3L', 'score': 9.25}, {'connected_gene': 'CD86', 'score': 7.24}, {'connected_gene': 'HCLS1', 'score': 2.8}, {'connected_gene': 'CSTA', 'score': 2.12}, {'connected_gene': 'EAF2', 'score': 1.97}, {'connected_gene': 'ILDR1', 'score': 0.28}, {'connected_gene': 'CASR', 'score': 0.18}]
chr3 GH03I121997 121997402 121999599 1.28 [{'connected_gene': 'SLC15A2', 'score': 13.72}, {'connected_gene': 'CD86', 'score': 13.51}, {'connected_gene': 'EAF2', 'score': 11.77}, {'connected_gene': 'ENSG00000202388', 'score': 11.74}, {'connected_gene': 'ILDR1', 'score': 11.64}, {'connected_gene': 'IQCB1', 'score': 10.46}, {'connected_gene': 'CSTA', 'score': 1.56}, {'connected_gene': 'HCLS1', 'score': 1.45}, {'connected_gene': 'LOC101927010', 'score': 0.39}, {'connected_gene': 'GC03M121324', 'score': 0.26}]
chr3 GH03I121658 121658100 121662040 2.32 [{'connected_gene': 'HCLS1', 'score': 563.94}, {'connected_gene': 'IQCB1', 'score': 28.61}, {'connected_gene': 'SLC15A2', 'score': 4.12}, {'connected_gene': 'GOLGB1', 'score': 2.14}, {'connected_gene': 'CD86', 'score': 1.41}, {'connected_gene': 'RNU4-62P', 'score': 0.77}, {'connected_gene': 'GC03M121324', 'score': 0.05}]
chr3 GH03I121757 121756659 121758333 0.31 [{'connected_gene': 'HCLS1', 'score': 16.62}, {'connected_gene': 'IQCB1', 'score': 13.62}, {'connected_gene': 'RN7SL172P', 'score': 11.41}, {'connected_gene': 'RNU4-62P', 'score': 11.41}, {'connected_gene': 'SLC15A2', 'score': 4.65}, {'connected_gene': 'GOLGB1', 'score': 0.44}, {'connected_gene': 'GC03M121324', 'score': 0.06}]
chr3 GH03I121609 121609253 121610723 0.2 [{'connected_gene': 'HCLS1', 'score': 4.87}, {'connected_gene': 'EAF2', 'score': 4.72}, {'connected_gene': 'IQCB1', 'score': 4.68}, {'connected_gene': 'FBXO40', 'score': 0.37}, {'connected_gene': 'RN7SL172P', 'score': 0.26}, {'connected_gene': 'GC03M121324', 'score': 0.04}]
chr3 GH03I121714 121714734 121715759 0.2 [{'connected_gene': 'HCLS1', 'score': 5.55}, {'connected_gene': 'PIR54680', 'score': 0.37}, {'connected_gene': 'GC03P121749', 'score': 0.29}, {'connected_gene': 'GOLGB1', 'score': 0.28}, {'connected_gene': 'GC03M121324', 'score': 0.05}]
chr3 GH03I121667 121667201 121667800 0.2 [{'connected_gene': 'HCLS1', 'score': 0.44}, {'connected_gene': 'PIR54680', 'score': 0.29}, {'connected_gene': 'GOLGB1', 'score': 0.18}, {'connected_gene': 'GC03M121324', 'score': 0.05}]
chr3 GH03I121628 121628723 121630973 0.31 [{'connected_gene': 'HCLS1', 'score': 5.96}, {'connected_gene': 'RN7SL172P', 'score': 0.34}, {'connected_gene': 'FBXO40', 'score': 0.28}, {'connected_gene': 'GC03M121324', 'score': 0.05}]
chr3 GH03I122056 122056401 122060690 1.27 [{'connected_gene': 'ILDR1', 'score': 550.77}, {'connected_gene': 'ENSG00000202388', 'score': 12.34}, {'connected_gene': 'CD86', 'score': 11.87}, {'connected_gene': 'IQCB1', 'score': 6.71}, {'connected_gene': 'HCLS1', 'score': 2.12}, {'connected_gene': 'EAF2', 'score': 1.7}]
chr3 GH03I121747 121747639 121750907 2.03 [{'connected_gene': 'GOLGB1', 'score': 560.95}, {'connected_gene': 'PIR33653', 'score': 550.77}, {'connected_gene': 'GC03P121749', 'score': 550.77}, {'connected_gene': 'IQCB1', 'score': 52.76}, {'connected_gene': 'LOC102723582', 'score': 28.61}, {'connected_gene': 'HCLS1', 'score': 5.49}, {'connected_gene': 'PIR54680', 'score': 0.23}, {'connected_gene': 'GC03M121324', 'score': 0.06}]
chr3 GH03I122030 122030173 122031013 0.86 [{'connected_gene': 'GOLGB1', 'score': 11.36}, {'connected_gene': 'CD86', 'score': 5.87}, {'connected_gene': 'EAF2', 'score': 1.51}, {'connected_gene': 'HCLS1', 'score': 1.34}, {'connected_gene': 'GC03M121324', 'score': 0.44}, {'connected_gene': 'ENSG00000202388', 'score': 0.44}, {'connected_gene': 'ILDR1', 'score': 0.31}]
chr3 GH03I121648 121648734 121648883 0.38 [{'connected_gene': 'RN7SL172P', 'score': 0.44}, {'connected_gene': 'HCLS1', 'score': 0.39}, {'connected_gene': 'FBXO40', 'score': 0.22}, {'connected_gene': 'GC03M121324', 'score': 0.05}]
chr3 GH03I121654 121654003 121655253 0.88 [{'connected_gene': 'RN7SL172P', 'score': 550.77}, {'connected_gene': 'RNU4-62P', 'score': 550.77}, {'connected_gene': 'IQCB1', 'score': 13.78}, {'connected_gene': 'SLC15A2', 'score': 6.61}, {'connected_gene': 'HCLS1', 'score': 5.81}, {'connected_gene': 'GC03M121324', 'score': 0.05}]
chr3 GH03I121655 121655530 121655701 0.73 [{'connected_gene': 'RN7SL172P', 'score': 550.77}, {'connected_gene': 'RNU4-62P', 'score': 550.77}, {'connected_gene': 'GOLGB1', 'score': 16.28}, {'connected_gene': 'IQCB1', 'score': 15.84}, {'connected_gene': 'LOC102723582', 'score': 14.79}, {'connected_gene': 'HCLS1', 'score': 10.29}, {'connected_gene': 'SLC15A2', 'score': 6.65}, {'connected_gene': 'EAF2', 'score': 1.17}, {'connected_gene': 'GC03M121324', 'score': 0.05}]
chr3 GH03I122063 122063514 122064859 1.04 [{'connected_gene': 'ENSG00000202388', 'score': 11.81}, {'connected_gene': 'CD86', 'score': 10.77}, {'connected_gene': 'IQCB1', 'score': 6.46}, {'connected_gene': 'DTX3L', 'score': 4.13}, {'connected_gene': 'PARP9', 'score': 4.06}, {'connected_gene': 'HCLS1', 'score': 2.28}, {'connected_gene': 'EAF2', 'score': 2.15}, {'connected_gene': 'CSTA', 'score': 1.7}, {'connected_gene': 'ILDR1', 'score': 0.77}, {'connected_gene': 'CASR', 'score': 0.13}]

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