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
ENST00000550005 [[31959161, 31959309], [31995257, 31995382], [32019976, 32020133], [32031273, 32031403]] [[32020100, 32020133], [32031273, 32031403]]
ENST00000550649 [[32030590, 32030753], [32031273, 32031421], [32034219, 32034254], [32315676, 32315797], [32319324, 32319407], [32328323, 32328330]] [[32030645, 32030753], [32031273, 32031421], [32034219, 32034254], [32315676, 32315797], [32319324, 32319407], [32328323, 32328330]]
ENST00000281081 [[32030600, 32030753], [32031273, 32031421], [32034219, 32034254], [32068494, 32068585], [32142560, 32142600], [32142689, 32142780], [32256985, 32257079], [32295834, 32295920], [32315676, 32315797], [32319324, 32319407], [32328323, 32330430]] [[32030645, 32030753], [32031273, 32031421], [32034219, 32034254], [32068494, 32068585], [32142560, 32142600], [32142689, 32142780], [32256985, 32257079], [32295834, 32295920], [32315676, 32315797], [32319324, 32319407], [32328323, 32328386]]
ENST00000547839 [[32030603, 32030753], [32031273, 32031421], [32034219, 32034254], [32068494, 32068585], [32142560, 32142600], [32142689, 32142780], [32295834, 32295920], [32315676, 32315797], [32319324, 32319407], [32328323, 32329479]] [[32030645, 32030753], [32031273, 32031421], [32034219, 32034254], [32068494, 32068585], [32142560, 32142600], [32142689, 32142780], [32295834, 32295843]]
ENST00000548937 [[32030641, 32030753], [32031273, 32031421], [32034219, 32034254], [32068494, 32068585], [32142560, 32142600], [32142689, 32142780], [32172322, 32172383]] None
ENST00000552489 [[32030645, 32030753], [32031273, 32031421], [32031997, 32032091], [32034219, 32034254], [32068494, 32068585], [32142560, 32142600], [32142689, 32142714]] [[32030645, 32030753], [32031273, 32031421], [32031997, 32032053]]
ENST00000549838 [[32030681, 32030753], [32031273, 32031421], [32034219, 32034254], [32068494, 32068585], [32123275, 32123340], [32142560, 32142600], [32142689, 32142780], [32256985, 32256999]] [[32030681, 32030753], [32031273, 32031421], [32034219, 32034254], [32068494, 32068585], [32123275, 32123322]]
ENST00000550355 [[32030696, 32030753], [32031273, 32031421], [32034219, 32034254], [32068494, 32068585], [32137026, 32137185], [32142560, 32142600], [32142689, 32142755]] None
ENST00000551314 [[32030829, 32030948], [32031273, 32031421], [32034219, 32034254], [32068494, 32068585], [32142560, 32142600], [32142689, 32142780], [32256985, 32257028]] [[32031321, 32031421], [32034219, 32034254], [32068494, 32068585], [32142560, 32142600], [32142689, 32142780], [32256985, 32257028]]
ENST00000536705 [[32068444, 32068447], [32068494, 32068585], [32142560, 32142600], [32142689, 32142780], [32256985, 32257079], [32295834, 32295920], [32315676, 32315797], [32319324, 32319407], [32328323, 32330399]] [[32068444, 32068447], [32068494, 32068585], [32142560, 32142600], [32142689, 32142780], [32256985, 32257079], [32295834, 32295920], [32315676, 32315797], [32319324, 32319407], [32328323, 32328386]]
ENST00000418681 [[32183774, 32184009], [32256985, 32257079], [32295834, 32295920], [32315676, 32315797], [32319324, 32319407], [32328323, 32329508]] None
ENST00000552814 [[31995360, 31995382], [32019976, 32020133], [32027030, 32027301]] None
ENST00000551015 [[32270062, 32270383], [32295834, 32295920], [32315676, 32315797], [32319252, 32319301]] None
ENST00000552888 [[32312949, 32315797], [32319324, 32319407], [32328323, 32330424]] None
NR_120408 [[32030590, 32030753], [32031273, 32031421], [32034219, 32034254], [32068494, 32068585], [32142560, 32142600], [32142689, 32142780], [32295834, 32295920], [32315676, 32315797], [32319324, 32319407], [32328323, 32330430]] None
NM_025152 [[32030590, 32030753], [32031273, 32031421], [32034219, 32034254], [32068494, 32068585], [32142560, 32142600], [32142689, 32142780], [32256985, 32257079], [32295834, 32295920], [32315676, 32315797], [32319324, 32319407], [32328323, 32330430]] [[32030645, 32030753], [32031273, 32031421], [32034219, 32034254], [32068494, 32068585], [32142560, 32142600], [32142689, 32142780], [32256985, 32257079], [32295834, 32295920], [32315676, 32315797], [32319324, 32319407], [32328323, 32328386]]
NM_001201573 [[32047121, 32047231], [32068494, 32068585], [32142560, 32142600], [32142689, 32142780], [32256985, 32257079], [32295834, 32295920], [32315676, 32315797], [32319324, 32319407], [32328323, 32330430]] [[32047228, 32047231], [32068494, 32068585], [32142560, 32142600], [32142689, 32142780], [32256985, 32257079], [32295834, 32295920], [32315676, 32315797], [32319324, 32319407], [32328323, 32328386]]
NM_001201574 [[32183774, 32184009], [32256985, 32257079], [32295834, 32295920], [32315676, 32315797], [32319324, 32319407], [32328323, 32330430]] [[32257021, 32257079], [32295834, 32295920], [32315676, 32315797], [32319324, 32319407], [32328323, 32328386]]
Promoter
Chrom Start End Description
chr14 31959154 31959178 CAGE_peak_3_at_NUBPL_5end
chr14 32030582 32030661 CAGE_peak_1_at_NUBPL_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I031582 31582295 31583506 0.31 [{'connected_gene': 'NUBPL', 'score': 4.82}, {'connected_gene': 'ENSG00000257155', 'score': 0.34}, {'connected_gene': 'RNU6-602P', 'score': 0.18}]
chr14 GH14I031577 31577975 31579971 0.38 [{'connected_gene': 'NUBPL', 'score': 5.31}, {'connected_gene': 'ENSG00000257155', 'score': 0.37}, {'connected_gene': 'RNU6-602P', 'score': 0.18}]
chr14 GH14I031819 31819415 31819564 0.56 [{'connected_gene': 'NUBPL', 'score': 6.39}, {'connected_gene': 'PIR42868', 'score': 0.26}, {'connected_gene': 'GC14M031687', 'score': 0.12}, {'connected_gene': 'RNU6-455P', 'score': 0.12}]
chr14 GH14I031828 31828380 31830241 0.69 [{'connected_gene': 'NUBPL', 'score': 8.21}, {'connected_gene': 'ENSG00000203546', 'score': 4.35}, {'connected_gene': 'PIR42868', 'score': 0.29}, {'connected_gene': 'GC14M031687', 'score': 0.11}, {'connected_gene': 'RNU6-455P', 'score': 0.11}]
chr14 GH14I031956 31956280 31956379 0.39 [{'connected_gene': 'NUBPL', 'score': 4.01}, {'connected_gene': 'ENSG00000275002', 'score': 0.44}, {'connected_gene': 'LINC02313', 'score': 0.39}]
chr14 GH14I031892 31892547 31896113 0.75 [{'connected_gene': 'NUBPL', 'score': 8.3}, {'connected_gene': 'ENSG00000203546', 'score': 4.75}, {'connected_gene': 'PIR42868', 'score': 0.29}, {'connected_gene': 'ENSG00000257472', 'score': 0.28}]
chr14 GH14I031876 31876325 31879037 0.66 [{'connected_gene': 'NUBPL', 'score': 5.99}, {'connected_gene': 'PIR42868', 'score': 0.37}, {'connected_gene': 'ENSG00000257472', 'score': 0.23}]
chr14 GH14I031901 31901595 31903064 0.77 [{'connected_gene': 'NUBPL', 'score': 6.12}, {'connected_gene': 'ENSG00000257472', 'score': 0.31}, {'connected_gene': 'PIR42868', 'score': 0.26}]
chr14 GH14I031880 31880574 31882238 0.56 [{'connected_gene': 'NUBPL', 'score': 4.29}, {'connected_gene': 'PIR42868', 'score': 0.34}, {'connected_gene': 'ENSG00000257472', 'score': 0.25}]
chr14 GH14I032128 32128617 32128855 0.49 [{'connected_gene': 'ARHGAP5', 'score': 11.73}, {'connected_gene': 'NUBPL', 'score': 1.52}, {'connected_gene': 'GC14P032154', 'score': 0.31}, {'connected_gene': 'ARHGAP5-AS1', 'score': 0.23}]
chr14 GH14I031377 31377477 31378744 1.13 [{'connected_gene': 'HEATR5A', 'score': 17.39}, {'connected_gene': 'LOC101927124', 'score': 11.05}, {'connected_gene': 'HECTD1', 'score': 10.26}, {'connected_gene': 'RNU6-541P', 'score': 10.08}, {'connected_gene': 'NUBPL', 'score': 4.86}, {'connected_gene': 'ENSG00000203546', 'score': 4.82}, {'connected_gene': 'ATP5MC1P2', 'score': 0.22}]
chr14 GH14I031505 31505001 31506183 0.58 [{'connected_gene': 'DTD2', 'score': 9.86}, {'connected_gene': 'LOC105370438', 'score': 0.37}, {'connected_gene': 'NUBPL', 'score': 0.37}, {'connected_gene': 'PIR47875', 'score': 0.34}]
chr14 GH14I031490 31490001 31490400 0.43 [{'connected_gene': 'LOC105370438', 'score': 550.77}, {'connected_gene': 'NUBPL', 'score': 550.77}, {'connected_gene': 'LOC101927124', 'score': 10.4}, {'connected_gene': 'HEATR5A', 'score': 10.4}, {'connected_gene': 'PIR47875', 'score': 0.26}]
chr14 GH14I031488 31488029 31488088 0.5 [{'connected_gene': 'LOC105370438', 'score': 550.77}, {'connected_gene': 'GPR33', 'score': 550.77}, {'connected_gene': 'NUBPL', 'score': 550.77}, {'connected_gene': 'LOC101927124', 'score': 10.4}, {'connected_gene': 'HEATR5A', 'score': 10.4}, {'connected_gene': 'RPL9P4', 'score': 0.34}]
chr14 GH14I031489 31489815 31489884 0.49 [{'connected_gene': 'LOC105370438', 'score': 550.77}, {'connected_gene': 'GPR33', 'score': 550.77}, {'connected_gene': 'NUBPL', 'score': 550.77}, {'connected_gene': 'LOC101927124', 'score': 10.4}, {'connected_gene': 'HEATR5A', 'score': 10.4}]
chr14 GH14I031560 31560646 31562545 2.08 [{'connected_gene': 'LOC105370437', 'score': 550.77}, {'connected_gene': 'ENSG00000257155', 'score': 550.77}, {'connected_gene': 'NUBPL', 'score': 550.19}, {'connected_gene': 'RNU6-602P', 'score': 0.15}]
chr14 GH14I031567 31567912 31567924 0.46 [{'connected_gene': 'ENSG00000257155', 'score': 0.44}, {'connected_gene': 'NUBPL', 'score': 0.18}, {'connected_gene': 'RNU6-602P', 'score': 0.16}]
chr14 GH14I031568 31568200 31568801 0.52 [{'connected_gene': 'ENSG00000257155', 'score': 0.44}, {'connected_gene': 'NUBPL', 'score': 0.18}, {'connected_gene': 'RNU6-602P', 'score': 0.16}]
chr14 GH14I031818 31818895 31819044 0.43 [{'connected_gene': 'PIR42868', 'score': 0.26}, {'connected_gene': 'GC14M031687', 'score': 0.12}, {'connected_gene': 'RNU6-455P', 'score': 0.12}, {'connected_gene': 'NUBPL', 'score': 0.05}]
chr14 GH14I031770 31770201 31770600 0.43 [{'connected_gene': 'GC14M031687', 'score': 0.18}, {'connected_gene': 'RNU6-455P', 'score': 0.18}, {'connected_gene': 'PIR42868', 'score': 0.17}, {'connected_gene': 'NUBPL', 'score': 0.06}]