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
ENST00000295470 [[83343716, 83346036], [83347189, 83347282], [83347615, 83347786], [83348342, 83348457], [83348585, 83348717], [83349170, 83349332], [83349430, 83349599], [83350400, 83351019]] [[83347211, 83347282], [83347615, 83347786], [83348342, 83348457], [83348585, 83348717], [83349170, 83349332], [83349430, 83349599], [83350400, 83350843]]
ENST00000349655 [[83345781, 83346036], [83347189, 83347282], [83348342, 83348457], [83348585, 83348717], [83349170, 83349332], [83349430, 83349599], [83350400, 83350594]] [[83347211, 83347282], [83348342, 83348457], [83348585, 83348717], [83349170, 83349332], [83349430, 83349599], [83350400, 83350486]]
ENST00000602300 [[83345781, 83346036], [83346715, 83346820], [83347189, 83347282], [83347615, 83347786], [83348342, 83348457], [83348585, 83348717], [83349170, 83349332], [83349430, 83349599], [83350400, 83350600]] [[83347211, 83347282], [83347615, 83347786], [83348342, 83348457], [83348585, 83348717], [83349170, 83349332], [83349430, 83349599], [83350400, 83350486]]
ENST00000502762 [[83345781, 83346036], [83346715, 83346820], [83347189, 83347282], [83347615, 83347786], [83348342, 83348457], [83348585, 83348717], [83349170, 83349332], [83349430, 83349599], [83350400, 83351294]] [[83347211, 83347282], [83347615, 83347786], [83348342, 83348457], [83348585, 83348717], [83349170, 83349332], [83349430, 83349599], [83350400, 83350843]]
ENST00000507721 [[83345783, 83347282], [83347615, 83347786], [83348342, 83348344]] None
ENST00000514511 [[83346735, 83347282], [83347615, 83347786], [83348342, 83348457], [83348585, 83348717], [83350400, 83350578]] None
NR_003249 [[83343716, 83346036], [83346715, 83346820], [83347189, 83347282], [83347615, 83347786], [83348342, 83348457], [83348585, 83348717], [83349170, 83349332], [83349430, 83349599], [83350400, 83351378]] None
NM_031372 [[83343716, 83346036], [83347189, 83347282], [83347615, 83347786], [83348342, 83348457], [83348585, 83348717], [83349170, 83349332], [83349430, 83349599], [83350400, 83351378]] [[83347211, 83347282], [83347615, 83347786], [83348342, 83348457], [83348585, 83348717], [83349170, 83349332], [83349430, 83349599], [83350400, 83350843]]
NM_001207000 [[83343716, 83346036], [83347189, 83347282], [83348342, 83348457], [83348585, 83348717], [83349170, 83349332], [83349430, 83349599], [83350400, 83351378]] [[83347211, 83347282], [83348342, 83348457], [83348585, 83348717], [83349170, 83349332], [83349430, 83349599], [83350400, 83350843]]
Promoter
Chrom Start End Description
chr4 83348378 83348400 CAGE_peak_6_at_HNRPDL_5end
chr4 83348645 83348673 CAGE_peak_7_at_HNRPDL_5end
chr4 83350555 83350566 CAGE_peak_2_at_HNRPDL_5end
chr4 83350580 83350600 CAGE_peak_1_at_HNRPDL_5end
chr4 83351005 83351014 CAGE_peak_19_at_HNRPDL_5end
chr4 83351029 83351036 CAGE_peak_21_at_HNRPDL_5end
chr4 83351107 83351121 CAGE_peak_8_at_HNRPDL_5end
chr4 83351124 83351222 CAGE_peak_4_at_HNRPDL_5end
chr4 83351344 83351417 CAGE_peak_5_at_HNRPDL_5end
chr4 83351529 83351540 CAGE_peak_10_at_HNRPDL_5end
chr4 83351556 83351628 CAGE_peak_3_at_HNRPDL_5end
chr4 83351863 83351886 CAGE_peak_16_at_HNRPDL_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I082394 82394488 82395559 0.63 [{'connected_gene': 'HNRNPDL', 'score': 11.76}, {'connected_gene': 'ENOPH1', 'score': 11.76}, {'connected_gene': 'HNRNPD', 'score': 11.7}, {'connected_gene': 'TMEM150C', 'score': 9.74}, {'connected_gene': 'IGBP1P4', 'score': 0.44}]
chr4 GH04I082380 82380428 82380577 0.6 [{'connected_gene': 'HNRNPDL', 'score': 11.45}, {'connected_gene': 'ENOPH1', 'score': 11.45}, {'connected_gene': 'HNRNPD', 'score': 0.44}, {'connected_gene': 'LOC101928963', 'score': 0.44}, {'connected_gene': 'IGBP1P4', 'score': 0.34}]
chr4 GH04I082367 82367627 82368566 0.49 [{'connected_gene': 'HNRNPDL', 'score': 11.42}, {'connected_gene': 'ENOPH1', 'score': 11.42}, {'connected_gene': 'PIR50483', 'score': 0.77}, {'connected_gene': 'HNRNPD', 'score': 0.44}, {'connected_gene': 'LOC101928963', 'score': 0.44}]
chr4 GH04I082366 82366790 82367598 0.46 [{'connected_gene': 'HNRNPDL', 'score': 11.42}, {'connected_gene': 'ENOPH1', 'score': 11.42}, {'connected_gene': 'ENSG00000273156', 'score': 4.99}, {'connected_gene': 'PIR50483', 'score': 0.77}, {'connected_gene': 'HNRNPD', 'score': 0.44}, {'connected_gene': 'LOC101928963', 'score': 0.44}]
chr4 GH04I082427 82427001 82431942 2.47 [{'connected_gene': 'HNRNPDL', 'score': 561.48}, {'connected_gene': 'ENOPH1', 'score': 555.76}, {'connected_gene': 'HNRNPD', 'score': 51.86}, {'connected_gene': 'ENSG00000202440', 'score': 0.31}, {'connected_gene': 'GC04M082403', 'score': 0.31}]
chr4 GH04I082360 82360040 82361408 0.74 [{'connected_gene': 'HNRNPDL', 'score': 11.7}, {'connected_gene': 'ENOPH1', 'score': 11.7}, {'connected_gene': 'ENSG00000273156', 'score': 5.89}, {'connected_gene': 'PIR50483', 'score': 0.77}, {'connected_gene': 'HNRNPD', 'score': 0.39}]
chr4 GH04I082796 82796333 82799522 2.1 [{'connected_gene': 'SCD5', 'score': 550.77}, {'connected_gene': 'HNRNPDL', 'score': 51.3}, {'connected_gene': 'THAP9-AS1', 'score': 42.32}, {'connected_gene': 'LOC101928963', 'score': 30.74}, {'connected_gene': 'HNRNPD', 'score': 30.28}, {'connected_gene': 'SEC31A', 'score': 10.35}, {'connected_gene': 'ENSG00000270842', 'score': 0.34}]
chr4 GH04I083033 83033922 83036652 2.11 [{'connected_gene': 'COPS4', 'score': 550.77}, {'connected_gene': 'GC04P083035', 'score': 550.77}, {'connected_gene': 'HNRNPD', 'score': 39.25}, {'connected_gene': 'HELQ', 'score': 25.8}, {'connected_gene': 'THAP9-AS1', 'score': 20.74}, {'connected_gene': 'ABRAXAS1', 'score': 19.05}, {'connected_gene': 'HNRNPDL', 'score': 12.77}, {'connected_gene': 'SEC31A', 'score': 10.63}]
chr4 GH04I083254 83254875 83261297 1.35 [{'connected_gene': 'LOC391674', 'score': 19.07}, {'connected_gene': 'HNRNPD', 'score': 16.09}, {'connected_gene': 'HNRNPDL', 'score': 15.74}, {'connected_gene': 'SEC31A', 'score': 13.4}, {'connected_gene': 'HELQ', 'score': 12.71}, {'connected_gene': 'THAP9-AS1', 'score': 11.04}, {'connected_gene': 'ABRAXAS1', 'score': 9.73}, {'connected_gene': 'PLAC8', 'score': 7.67}, {'connected_gene': 'PIR52005', 'score': 0.44}, {'connected_gene': 'GC04P083274', 'score': 0.37}, {'connected_gene': 'COQ2', 'score': 0.31}]
chr4 GH04I082425 82425467 82425790 0.63 [{'connected_gene': 'HNRNPD', 'score': 11.7}, {'connected_gene': 'HNRNPDL', 'score': 0.77}, {'connected_gene': 'ENSG00000202440', 'score': 0.34}, {'connected_gene': 'GC04M082403', 'score': 0.34}]
chr4 GH04I082426 82425262 82425461 0.51 [{'connected_gene': 'HNRNPD', 'score': 11.7}, {'connected_gene': 'HNRNPDL', 'score': 0.44}, {'connected_gene': 'ENSG00000202440', 'score': 0.34}, {'connected_gene': 'GC04M082403', 'score': 0.34}]
chr4 GH04I082423 82423021 82424614 0.65 [{'connected_gene': 'HNRNPD', 'score': 11.96}, {'connected_gene': 'ENOPH1', 'score': 5.31}, {'connected_gene': 'HNRNPDL', 'score': 0.44}, {'connected_gene': 'ENSG00000202440', 'score': 0.34}, {'connected_gene': 'GC04M082403', 'score': 0.34}]
chr4 GH04I082370 82370936 82376001 2.33 [{'connected_gene': 'HNRNPD', 'score': 580.64}, {'connected_gene': 'LOC101928963', 'score': 556.13}, {'connected_gene': 'HNRNPDL', 'score': 27.44}, {'connected_gene': 'THAP9-AS1', 'score': 19.9}, {'connected_gene': 'SEC31A', 'score': 13.38}, {'connected_gene': 'ENOPH1', 'score': 11.72}, {'connected_gene': 'TMEM150C', 'score': 4.4}, {'connected_gene': 'PIR50483', 'score': 0.44}]
chr4 GH04I081503 81503771 81507058 1.39 [{'connected_gene': 'RASGEF1B', 'score': 30.33}, {'connected_gene': 'HNRNPD', 'score': 21.27}, {'connected_gene': 'HNRNPDL', 'score': 16.11}, {'connected_gene': 'LOC105377306', 'score': 0.44}, {'connected_gene': 'GC04M081523', 'score': 0.23}]
chr4 GH04I082766 82766494 82770029 0.31 [{'connected_gene': 'GC04M082767', 'score': 550.77}, {'connected_gene': 'HNRNPDL', 'score': 10.36}, {'connected_gene': 'MIR575', 'score': 0.39}, {'connected_gene': 'SCD5', 'score': 0.29}]
chr4 GH04I082363 82363139 82364803 0.54 [{'connected_gene': 'PIR50483', 'score': 550.77}, {'connected_gene': 'HNRNPDL', 'score': 11.7}, {'connected_gene': 'ENOPH1', 'score': 11.7}, {'connected_gene': 'ENSG00000273156', 'score': 5.94}, {'connected_gene': 'HNRNPD', 'score': 0.39}, {'connected_gene': 'LOC101928963', 'score': 0.39}]
chr4 GH04I082361 82361654 82362966 0.49 [{'connected_gene': 'PIR50483', 'score': 550.77}, {'connected_gene': 'HNRNPDL', 'score': 11.7}, {'connected_gene': 'ENOPH1', 'score': 11.7}, {'connected_gene': 'ENSG00000273156', 'score': 5.01}, {'connected_gene': 'HNRNPD', 'score': 0.39}]
chr4 GH04I082416 82416088 82416237 0.52 [{'connected_gene': 'ENSG00000202440', 'score': 0.39}, {'connected_gene': 'HNRNPDL', 'score': 0.39}, {'connected_gene': 'GC04M082403', 'score': 0.39}]