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
ENST00000331715 [[127539436, 127539639], [127549253, 127549517], [127561563, 127561770], [127563692, 127563942], [127566372, 127566515]] [[127539549, 127539639], [127549253, 127549517], [127561563, 127561770], [127563692, 127563942], [127566372, 127566515]]
ENST00000373580 [[127539549, 127539639], [127549253, 127549517], [127557302, 127557410], [127561563, 127561770], [127563692, 127563942], [127566372, 127566621], [127570059, 127570245], [127572086, 127577157]] [[127539549, 127539639], [127549253, 127549517], [127557302, 127557410], [127561563, 127561770], [127563692, 127563942], [127566372, 127566621], [127570059, 127570245], [127572086, 127572691]]
ENST00000288815 [[127563152, 127563353], [127563692, 127563942], [127566372, 127566621], [127570059, 127570245], [127572086, 127577164]] [[127563326, 127563353], [127563692, 127563942], [127566372, 127566621], [127570059, 127570245], [127572086, 127572691]]
NM_182487 [[127539436, 127539639], [127549253, 127549517], [127557302, 127557410], [127561563, 127561770], [127563692, 127563942], [127566372, 127566621], [127570059, 127570245], [127572086, 127577170]] [[127539549, 127539639], [127549253, 127549517], [127557302, 127557410], [127561563, 127561770], [127563692, 127563942], [127566372, 127566621], [127570059, 127570245], [127572086, 127572691]]
NM_001282715 [[127563152, 127563353], [127563692, 127563942], [127566372, 127566621], [127570059, 127570245], [127572086, 127577170]] [[127563326, 127563353], [127563692, 127563942], [127566372, 127566621], [127570059, 127570245], [127572086, 127572691]]
Promoter
Chrom Start End Description
chr9 127539377 127539423 CAGE_peak_1_at_OLFML2A_5end
chr9 127539425 127539448 CAGE_peak_2_at_OLFML2A_5end
chr9 127539451 127539471 CAGE_peak_3_at_OLFML2A_5end
chr9 127539481 127539493 CAGE_peak_4_at_OLFML2A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I124880 124880928 124881759 0.31 [{'connected_gene': 'ARPC5L', 'score': 13.02}, {'connected_gene': 'WDR38', 'score': 12.15}, {'connected_gene': 'OLFML2A', 'score': 11.68}, {'connected_gene': 'GOLGA1', 'score': 10.51}, {'connected_gene': 'PPP6C', 'score': 4.35}, {'connected_gene': 'RNU4-82P', 'score': 0.44}, {'connected_gene': 'GC09M124888', 'score': 0.44}]
chr9 GH09I124831 124831464 124833362 1.29 [{'connected_gene': 'ARPC5L', 'score': 8.94}, {'connected_gene': 'OLFML2A', 'score': 5.28}, {'connected_gene': 'PIR55692', 'score': 0.34}, {'connected_gene': 'WDR38', 'score': 0.34}]
chr9 GH09I124834 124834077 124836335 1.22 [{'connected_gene': 'ARPC5L', 'score': 8.05}, {'connected_gene': 'OLFML2A', 'score': 6.49}, {'connected_gene': 'WDR38', 'score': 0.37}, {'connected_gene': 'PIR55692', 'score': 0.34}]
chr9 GH09I124839 124839371 124841933 1.03 [{'connected_gene': 'ARPC5L', 'score': 23.88}, {'connected_gene': 'RPL35', 'score': 12.8}, {'connected_gene': 'GOLGA1', 'score': 7.42}, {'connected_gene': 'OLFML2A', 'score': 5.07}, {'connected_gene': 'WDR38', 'score': 0.39}, {'connected_gene': 'PIR55692', 'score': 0.29}]
chr9 GH09I124851 124851700 124854167 2.19 [{'connected_gene': 'WDR38', 'score': 550.77}, {'connected_gene': 'ARPC5L', 'score': 14.47}, {'connected_gene': 'OLFML2A', 'score': 4.22}, {'connected_gene': 'PIR55692', 'score': 0.26}]
chr9 GH09I124795 124795022 124798471 1.24 [{'connected_gene': 'WDR38', 'score': 12.09}, {'connected_gene': 'ARPC5L', 'score': 12.07}, {'connected_gene': 'RPL35', 'score': 12.07}, {'connected_gene': 'GAPVD1', 'score': 10.18}, {'connected_gene': 'RNU6-1020P', 'score': 10.16}, {'connected_gene': 'MIR181A2HG', 'score': 8.44}, {'connected_gene': 'PIR55692', 'score': 0.39}, {'connected_gene': 'OLFML2A', 'score': 0.37}]
chr9 GH09I124774 124774324 124775000 1.05 [{'connected_gene': 'WDR38', 'score': 13.58}, {'connected_gene': 'ARPC5L', 'score': 13.57}, {'connected_gene': 'RPL35', 'score': 13.57}, {'connected_gene': 'MIR181A2HG', 'score': 8.32}, {'connected_gene': 'OLFML2A', 'score': 0.77}, {'connected_gene': 'NR6A1', 'score': 0.77}]
chr9 GH09I124881 124880413 124880823 0.51 [{'connected_gene': 'WDR38', 'score': 12.15}, {'connected_gene': 'OLFML2A', 'score': 11.68}, {'connected_gene': 'GOLGA1', 'score': 10.38}, {'connected_gene': 'RNU4-82P', 'score': 0.44}, {'connected_gene': 'GC09M124888', 'score': 0.44}, {'connected_gene': 'ARPC5L', 'score': 0.37}]
chr9 GH09I125095 125095040 125095835 0.38 [{'connected_gene': 'SCAI', 'score': 16.15}, {'connected_gene': 'RABEPK', 'score': 15.89}, {'connected_gene': 'OLFML2A', 'score': 4.42}, {'connected_gene': 'GC09P125105', 'score': 0.44}, {'connected_gene': 'GC09M125042', 'score': 0.23}]
chr9 GH09I124510 124510517 124513933 1.18 [{'connected_gene': 'GOLGA1', 'score': 12.22}, {'connected_gene': 'OLFML2A', 'score': 11.41}, {'connected_gene': 'GAPVD1', 'score': 10.75}, {'connected_gene': 'NR5A1', 'score': 0.77}, {'connected_gene': 'ENSG00000231149', 'score': 0.77}]
chr9 GH09I124772 124772582 124772631 0.38 [{'connected_gene': 'NR6A1', 'score': 550.77}, {'connected_gene': 'WDR38', 'score': 13.58}, {'connected_gene': 'ARPC5L', 'score': 13.57}, {'connected_gene': 'RPL35', 'score': 13.57}, {'connected_gene': 'OLFML2A', 'score': 0.77}, {'connected_gene': 'ENSG00000236643', 'score': 0.77}]
chr9 GH09I125238 125238117 125244755 2.29 [{'connected_gene': 'GAPVD1', 'score': 589.95}, {'connected_gene': 'HSPA5', 'score': 550.77}, {'connected_gene': 'GC09M125241', 'score': 550.77}, {'connected_gene': 'ENSG00000239705', 'score': 550.77}, {'connected_gene': 'GOLGA1', 'score': 22.95}, {'connected_gene': 'PRPS1P2', 'score': 22.57}, {'connected_gene': 'RABEPK', 'score': 14.15}, {'connected_gene': 'RPL35', 'score': 9.67}, {'connected_gene': 'OLFML2A', 'score': 4.32}]
chr9 GH09I124499 124499745 124502291 0.68 [{'connected_gene': 'GAPVD1', 'score': 20.19}, {'connected_gene': 'GOLGA1', 'score': 12.23}, {'connected_gene': 'OLFML2A', 'score': 11.4}, {'connected_gene': 'NR5A1', 'score': 0.44}, {'connected_gene': 'LOC105376270', 'score': 0.25}]
chr9 GH09I124799 124799642 124802984 1.49 [{'connected_gene': 'OLFML2A', 'score': 561.52}, {'connected_gene': 'WDR38', 'score': 12.1}, {'connected_gene': 'ARPC5L', 'score': 12.08}, {'connected_gene': 'RPL35', 'score': 12.08}, {'connected_gene': 'GAPVD1', 'score': 10.18}, {'connected_gene': 'RNU6-1020P', 'score': 10.16}, {'connected_gene': 'MIR181A2HG', 'score': 7.47}, {'connected_gene': 'PIR55692', 'score': 0.44}]
chr9 GH09I124819 124819922 124822095 1 [{'connected_gene': 'OLFML2A', 'score': 5.27}, {'connected_gene': 'PIR55692', 'score': 0.39}, {'connected_gene': 'WDR38', 'score': 0.29}]
chr9 GH09I124776 124776902 124781071 2.25 [{'connected_gene': 'OLFML2A', 'score': 550.77}, {'connected_gene': 'SCAI', 'score': 4.28}, {'connected_gene': 'GOLGA1', 'score': 4.08}, {'connected_gene': 'PIR55692', 'score': 0.29}]
chr9 GH09I124804 124804699 124806117 0.51 [{'connected_gene': 'OLFML2A', 'score': 7.78}, {'connected_gene': 'PIR55692', 'score': 0.77}]
chr9 GH09I124782 124782643 124783230 0.69 [{'connected_gene': 'OLFML2A', 'score': 0.44}, {'connected_gene': 'PIR55692', 'score': 0.31}]
chr9 GH09I124803 124803416 124803903 0.2 [{'connected_gene': 'OLFML2A', 'score': 10.99}, {'connected_gene': 'PIR55692', 'score': 0.44}]
chr9 GH09I124790 124790417 124791469 0.31 [{'connected_gene': 'OLFML2A', 'score': 0.39}, {'connected_gene': 'PIR55692', 'score': 0.37}]
chr9 GH09I125537 125537044 125538987 1.29 [{'connected_gene': 'LOC102723468', 'score': 550.77}, {'connected_gene': 'OLFML2A', 'score': 4.82}, {'connected_gene': 'LOC105376272', 'score': 0.31}, {'connected_gene': 'MAPKAP1', 'score': 0.1}]
chr9 GH09I125407 125407601 125411372 1.49 [{'connected_gene': 'LOC101929014', 'score': 550.77}, {'connected_gene': 'GAPVD1', 'score': 43.64}, {'connected_gene': 'GOLGA1', 'score': 40.96}, {'connected_gene': 'PRPS1P2', 'score': 34.39}, {'connected_gene': 'LOC101929116', 'score': 11.68}, {'connected_gene': 'OLFML2A', 'score': 11.37}, {'connected_gene': 'PPP6C', 'score': 5.26}, {'connected_gene': 'PBX3', 'score': 4.44}, {'connected_gene': 'GC09P125397', 'score': 0.39}]
chr9 GH09I124488 124488034 124490960 0.56 [{'connected_gene': 'MIR181A2HG', 'score': 5.65}, {'connected_gene': 'OLFML2A', 'score': 5.55}, {'connected_gene': 'NR5A1', 'score': 0.37}, {'connected_gene': 'LOC105376270', 'score': 0.28}]
chr9 GH09I124783 124783797 124784946 0.76 [{'connected_gene': 'MIR181A2HG', 'score': 6.69}, {'connected_gene': 'OLFML2A', 'score': 0.44}, {'connected_gene': 'PIR55692', 'score': 0.31}]
chr9 GH09I124791 124791936 124794582 0.99 [{'connected_gene': 'MIR181A2HG', 'score': 8.92}, {'connected_gene': 'PIR55692', 'score': 0.37}, {'connected_gene': 'OLFML2A', 'score': 0.37}]
chr9 GH09I124808 124808482 124814575 1.29 [{'connected_gene': 'PIR55692', 'score': 550.77}, {'connected_gene': 'GOLGA1', 'score': 17.45}, {'connected_gene': 'OLFML2A', 'score': 5.47}, {'connected_gene': 'WDR38', 'score': 0.26}]
chr9 GH09I124574 124574292 124575753 0.82 [{'connected_gene': 'ENSG00000231149', 'score': 11.2}, {'connected_gene': 'NR5A1', 'score': 11.18}, {'connected_gene': 'MIR181A2HG', 'score': 8.23}, {'connected_gene': 'OLFML2A', 'score': 4.22}, {'connected_gene': 'LOC100419284', 'score': 0.34}, {'connected_gene': 'PIR56415', 'score': 0.22}, {'connected_gene': 'NR6A1', 'score': 0.08}]