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
ENST00000315901 [[10057263, 10057389], [10064150, 10064365], [10067627, 10067806], [10068230, 10068332], [10075839, 10076078]] [[10057316, 10057389], [10064150, 10064257]]
ENST00000294435 [[10057273, 10057389], [10067627, 10067806], [10068230, 10068332], [10075839, 10076078]] [[10057316, 10057389], [10067627, 10067806], [10068230, 10068332], [10075839, 10075890]]
NM_052960 [[10057254, 10057389], [10067627, 10067806], [10068230, 10068332], [10075839, 10076078]] [[10057316, 10057389], [10067627, 10067806], [10068230, 10068332], [10075839, 10075890]]
NR_138250 [[10057254, 10057389], [10064150, 10064365], [10067627, 10067806], [10068230, 10068332], [10075839, 10076078]] None
Promoter
Chrom Start End Description
chr1 10057107 10057116 CAGE_peak_5_at_RBP7_5end
chr1 10057123 10057149 CAGE_peak_3_at_RBP7_5end
chr1 10057236 10057248 CAGE_peak_4_at_RBP7_5end
chr1 10057249 10057268 CAGE_peak_2_at_RBP7_5end
chr1 10057278 10057296 CAGE_peak_1_at_RBP7_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I009942 9942021 9944401 2.13 [{'connected_gene': 'LZIC', 'score': 571.87}, {'connected_gene': 'NMNAT1', 'score': 558.65}, {'connected_gene': 'ENSG00000228150', 'score': 550.77}, {'connected_gene': 'MIR34AHG', 'score': 18.71}, {'connected_gene': 'GPR157', 'score': 14.43}, {'connected_gene': 'CASZ1', 'score': 13.32}, {'connected_gene': 'RBP7', 'score': 5.1}]
chr1 GH01I009949 9949802 9951893 1.11 [{'connected_gene': 'LZIC', 'score': 21.53}, {'connected_gene': 'RBP7', 'score': 4.86}, {'connected_gene': 'RN7SKP269', 'score': 0.77}, {'connected_gene': 'ENSG00000228150', 'score': 0.44}, {'connected_gene': 'ENSG00000283611', 'score': 0.44}, {'connected_gene': 'NMNAT1', 'score': 0.44}]
chr1 GH01I009712 9712075 9720417 1.47 [{'connected_gene': 'GPR157', 'score': 14.44}, {'connected_gene': 'CLSTN1', 'score': 5.51}, {'connected_gene': 'RBP7', 'score': 5.51}, {'connected_gene': 'PIK3CD-AS2', 'score': 0.31}, {'connected_gene': 'MZT1P1', 'score': 0.21}, {'connected_gene': 'PIK3CD', 'score': 0.17}]
chr1 GH01I009881 9881546 9883206 0.63 [{'connected_gene': 'CTNNBIP1', 'score': 23.26}, {'connected_gene': 'ENSG00000223989', 'score': 12.25}, {'connected_gene': 'ENSG00000228150', 'score': 11.24}, {'connected_gene': 'LZIC', 'score': 11.24}, {'connected_gene': 'RN7SKP269', 'score': 11.24}, {'connected_gene': 'NMNAT1', 'score': 11.24}, {'connected_gene': 'RBP7', 'score': 6.24}, {'connected_gene': 'PIR35071', 'score': 0.44}]
chr1 GH01I009869 9869553 9870537 0.63 [{'connected_gene': 'CTNNBIP1', 'score': 15.42}, {'connected_gene': 'RBP7', 'score': 6.16}, {'connected_gene': 'PIR35071', 'score': 0.44}, {'connected_gene': 'LOC105376717', 'score': 0.37}]
chr1 GH01I009908 9908739 9912936 2.24 [{'connected_gene': 'CTNNBIP1', 'score': 564.06}, {'connected_gene': 'RBP7', 'score': 6.58}, {'connected_gene': 'GC01M009926', 'score': 0.37}]
chr1 GH01I010521 10521133 10523679 0.54 [{'connected_gene': 'PEX14', 'score': 17.28}, {'connected_gene': 'DFFA', 'score': 10.11}, {'connected_gene': 'C1orf127', 'score': 9.68}, {'connected_gene': 'RBP7', 'score': 5.81}, {'connected_gene': 'GC01P010513', 'score': 0.44}, {'connected_gene': 'PIR58493', 'score': 0.37}]
chr1 GH01I010471 10471244 10473863 2.1 [{'connected_gene': 'PEX14', 'score': 550.77}, {'connected_gene': 'DFFA', 'score': 550.77}, {'connected_gene': 'RBP7', 'score': 6.01}]
chr1 GH01I009369 9369550 9377696 1.47 [{'connected_gene': 'MIR34A', 'score': 10.31}, {'connected_gene': 'RBP7', 'score': 6.42}, {'connected_gene': 'ENSG00000284652', 'score': 0.25}, {'connected_gene': 'SPSB1', 'score': 0.18}]
chr1 GH01I010124 10124839 10134344 0.43 [{'connected_gene': 'PGD', 'score': 13.01}, {'connected_gene': 'RNU6-828P', 'score': 11.84}, {'connected_gene': 'RN7SKP269', 'score': 11.18}, {'connected_gene': 'LZIC', 'score': 11.18}, {'connected_gene': 'ENSG00000228150', 'score': 11.18}, {'connected_gene': 'NMNAT1', 'score': 11.18}, {'connected_gene': 'UBE4B', 'score': 10.73}, {'connected_gene': 'RNU6-37P', 'score': 10.33}, {'connected_gene': 'ENSG00000223989', 'score': 10.11}, {'connected_gene': 'CTNNBIP1', 'score': 10.08}, {'connected_gene': 'RBP7', 'score': 5.45}, {'connected_gene': 'CENPS', 'score': 4.54}, {'connected_gene': 'PGAM1P11', 'score': 0.19}]
chr1 GH01I010662 10662487 10690510 2.45 [{'connected_gene': 'TARDBP', 'score': 37.65}, {'connected_gene': 'ENSG00000226849', 'score': 28.33}, {'connected_gene': 'EXOSC10', 'score': 24.53}, {'connected_gene': 'MTOR', 'score': 11.14}, {'connected_gene': 'ENSG00000271895', 'score': 10.46}, {'connected_gene': 'C1orf127', 'score': 10.42}, {'connected_gene': 'DFFA', 'score': 10.08}, {'connected_gene': 'PGD', 'score': 4.47}, {'connected_gene': 'RBP7', 'score': 4.42}, {'connected_gene': 'CASZ1', 'score': 1.6}, {'connected_gene': 'GC01P010673', 'score': 0.77}]
chr1 GH01I010208 10208192 10214199 2.77 [{'connected_gene': 'KIF1B', 'score': 566.53}, {'connected_gene': 'PGD', 'score': 23.67}, {'connected_gene': 'LZIC', 'score': 12.22}, {'connected_gene': 'RNU6-37P', 'score': 11.47}, {'connected_gene': 'RBP7', 'score': 1.38}, {'connected_gene': 'MIR1273D', 'score': 0.37}]
chr1 GH01I009835 9835160 9837371 1.09 [{'connected_gene': 'CLSTN1', 'score': 10.19}, {'connected_gene': 'CTNNBIP1', 'score': 6.13}, {'connected_gene': 'RBP7', 'score': 5.03}, {'connected_gene': 'ENSG00000280113', 'score': 0.44}, {'connected_gene': 'ENSG00000223989', 'score': 0.39}]
chr1 GH01I009703 9703977 9705725 1.13 [{'connected_gene': 'PIK3CD', 'score': 12.63}, {'connected_gene': 'UBE4B', 'score': 1.36}, {'connected_gene': 'RBP7', 'score': 1.24}, {'connected_gene': 'PIK3CD-AS2', 'score': 0.37}, {'connected_gene': 'MZT1P1', 'score': 0.18}]
chr1 GH01I010655 10655442 10660749 0.56 [{'connected_gene': 'C1orf127', 'score': 10.42}, {'connected_gene': 'CENPS', 'score': 5.8}, {'connected_gene': 'PGD', 'score': 5.42}, {'connected_gene': 'RBP7', 'score': 4.39}, {'connected_gene': 'ENSG00000272078', 'score': 0.37}, {'connected_gene': 'GC01P010673', 'score': 0.37}, {'connected_gene': 'CASZ1', 'score': 0.12}]
chr1 GH01I009811 9811198 9811854 0.49 [{'connected_gene': 'RBP7', 'score': 5.49}, {'connected_gene': 'CLSTN1', 'score': 0.39}, {'connected_gene': 'MZT1P1', 'score': 0.29}]
chr1 GH01I009770 9770423 9770552 0.31 [{'connected_gene': 'RBP7', 'score': 5.0}, {'connected_gene': 'MZT1P1', 'score': 0.39}, {'connected_gene': 'CLSTN1', 'score': 0.23}, {'connected_gene': 'PIK3CD-AS2', 'score': 0.18}]
chr1 GH01I009872 9872090 9874004 0.66 [{'connected_gene': 'RBP7', 'score': 6.16}, {'connected_gene': 'PIR35071', 'score': 0.77}, {'connected_gene': 'LOC105376717', 'score': 0.34}, {'connected_gene': 'CTNNBIP1', 'score': 0.28}]
chr1 GH01I009860 9860569 9861664 0.46 [{'connected_gene': 'RBP7', 'score': 6.48}, {'connected_gene': 'PIR35071', 'score': 0.39}, {'connected_gene': 'LOC105376717', 'score': 0.39}, {'connected_gene': 'CTNNBIP1', 'score': 0.25}]
chr1 GH01I009997 9997179 9998001 1.5 [{'connected_gene': 'RBP7', 'score': 566.87}, {'connected_gene': 'UBE4B', 'score': 12.14}, {'connected_gene': 'LZIC', 'score': 11.49}, {'connected_gene': 'RN7SKP269', 'score': 11.49}, {'connected_gene': 'ENSG00000228150', 'score': 11.49}, {'connected_gene': 'NMNAT1', 'score': 11.49}, {'connected_gene': 'CTNNBIP1', 'score': 11.26}, {'connected_gene': 'RNU6-828P', 'score': 10.4}, {'connected_gene': 'GC01P010029', 'score': 0.29}]
chr1 GH01I009990 9990401 9991600 0.69 [{'connected_gene': 'RBP7', 'score': 11.9}, {'connected_gene': 'UBE4B', 'score': 11.77}, {'connected_gene': 'RN7SKP269', 'score': 11.38}, {'connected_gene': 'LZIC', 'score': 11.36}, {'connected_gene': 'ENSG00000228150', 'score': 11.36}, {'connected_gene': 'NMNAT1', 'score': 11.36}, {'connected_gene': 'CTNNBIP1', 'score': 10.31}, {'connected_gene': 'ENSG00000241326', 'score': 0.44}]
chr1 GH01I009842 9842692 9844121 0.76 [{'connected_gene': 'RBP7', 'score': 4.41}, {'connected_gene': 'ENSG00000223989', 'score': 0.77}, {'connected_gene': 'ENSG00000280113', 'score': 0.37}]
chr1 GH01I010507 10507201 10518285 1.85 [{'connected_gene': 'GC01P010513', 'score': 550.77}, {'connected_gene': 'PGD', 'score': 15.43}, {'connected_gene': 'NMNAT1', 'score': 10.48}, {'connected_gene': 'PEX14', 'score': 7.03}, {'connected_gene': 'ENSG00000271989', 'score': 6.94}, {'connected_gene': 'RBP7', 'score': 5.82}, {'connected_gene': 'DFFA', 'score': 0.26}]
chr1 GH01I010637 10637962 10638870 0.31 [{'connected_gene': 'ENSG00000272078', 'score': 550.77}, {'connected_gene': 'RBP7', 'score': 4.95}, {'connected_gene': 'GC01P010626', 'score': 0.39}, {'connected_gene': 'CASZ1', 'score': 0.1}]
chr1 GH01I010031 10031258 10035470 2.28 [{'connected_gene': 'PIR54123', 'score': 550.77}, {'connected_gene': 'GC01M010031', 'score': 550.77}, {'connected_gene': 'UBE4B', 'score': 550.77}, {'connected_gene': 'TARDBP', 'score': 19.36}, {'connected_gene': 'LZIC', 'score': 14.77}, {'connected_gene': 'GPR157', 'score': 14.43}, {'connected_gene': 'CASZ1', 'score': 13.32}, {'connected_gene': 'KIF1B', 'score': 5.04}, {'connected_gene': 'RBP7', 'score': 4.9}, {'connected_gene': 'PGD', 'score': 4.68}, {'connected_gene': 'RPL21P21', 'score': 0.34}]
chr1 GH01I009928 9928494 9930643 1.2 [{'connected_gene': 'PIR60952', 'score': 550.77}, {'connected_gene': 'GC01M009929', 'score': 550.77}, {'connected_gene': 'UBE4B', 'score': 10.79}, {'connected_gene': 'ENSG00000223989', 'score': 10.65}, {'connected_gene': 'RNU6-828P', 'score': 10.21}, {'connected_gene': 'RBP7', 'score': 4.82}, {'connected_gene': 'LZIC', 'score': 0.39}, {'connected_gene': 'ENSG00000228150', 'score': 0.39}, {'connected_gene': 'NMNAT1', 'score': 0.39}]