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
ENST00000579925 [[56566897, 56569201], [56569871, 56569960], [56570202, 56570313], [56572292, 56573691], [56581104, 56581259], [56581663, 56581849], [56582139, 56582335], [56582832, 56582944], [56584103, 56584232], [56584483, 56584680], [56585521, 56585635], [56585828, 56585925], [56586041, 56586202], [56588789, 56588872], [56589750, 56589867], [56590212, 56590302], [56593940, 56593979], [56595177, 56595212]] [[56569023, 56569201], [56569871, 56569960], [56570202, 56570313], [56572292, 56573691], [56581104, 56581259], [56581663, 56581849], [56582139, 56582335], [56582832, 56582944], [56584103, 56584232], [56584483, 56584680], [56585521, 56585635], [56585828, 56585925], [56586041, 56586202], [56588789, 56588872], [56589750, 56589867], [56590212, 56590302], [56593940, 56593943]]
ENST00000323456 [[56566897, 56569201], [56569871, 56569960], [56570202, 56570313], [56572292, 56573691], [56581104, 56581259], [56581410, 56581581], [56581663, 56581849], [56582139, 56582335], [56582832, 56582944], [56584103, 56584232], [56584483, 56584680], [56585521, 56585635], [56585828, 56585925], [56586041, 56586202], [56588789, 56588872], [56589750, 56589867], [56590212, 56590302], [56593940, 56593979], [56595177, 56595266]] [[56569023, 56569201], [56569871, 56569960], [56570202, 56570313], [56572292, 56573691], [56581104, 56581259], [56581410, 56581581], [56581663, 56581849], [56582139, 56582335], [56582832, 56582944], [56584103, 56584232], [56584483, 56584680], [56585521, 56585635], [56585828, 56585925], [56586041, 56586202], [56588789, 56588872], [56589750, 56589867], [56590212, 56590302], [56593940, 56593943]]
ENST00000578259 [[56568841, 56569201], [56569871, 56570099]] None
ENST00000580983 [[56585345, 56585635], [56585828, 56585925], [56586041, 56586202], [56588789, 56588872]] None
ENST00000582663 [[56585528, 56585635], [56585828, 56585925], [56588789, 56588872], [56589750, 56589867], [56590212, 56590302], [56593940, 56593979], [56595177, 56595216]] [[56585921, 56585925], [56588789, 56588872], [56589750, 56589867], [56590212, 56590302], [56593940, 56593943]]
ENST00000583966 [[56585682, 56585925], [56586041, 56586237]] None
ENST00000583656 [[56585828, 56585925], [56586041, 56586202], [56588789, 56588872], [56589750, 56589867], [56590212, 56590302], [56591723, 56591985]] [[56585828, 56585925], [56586041, 56586202], [56588789, 56588872], [56589750, 56589867], [56590212, 56590302], [56591723, 56591768]]
ENST00000582390 [[56587957, 56587992], [56588095, 56588872], [56589750, 56589867], [56590212, 56590302], [56591723, 56591985]] [[56588785, 56588872], [56589750, 56589867], [56590212, 56590302], [56591723, 56591768]]
ENST00000579921 [[56588808, 56588872], [56589750, 56589867], [56590212, 56590302], [56592352, 56592444], [56593940, 56593979], [56595177, 56595200]] [[56588808, 56588872], [56589750, 56589867], [56590212, 56590302], [56592352, 56592367]]
ENST00000583243 [[56588811, 56588872], [56589750, 56589867], [56590212, 56590302], [56591348, 56591397]] [[56588811, 56588860]]
NM_004687 [[56566892, 56569201], [56569871, 56569960], [56570202, 56570313], [56572292, 56573691], [56581104, 56581259], [56581410, 56581581], [56581663, 56581849], [56582139, 56582335], [56582832, 56582944], [56584103, 56584232], [56584483, 56584680], [56585521, 56585635], [56585828, 56585925], [56586041, 56586202], [56588789, 56588872], [56589750, 56589867], [56590212, 56590302], [56593940, 56593979], [56595177, 56595251]] [[56569023, 56569201], [56569871, 56569960], [56570202, 56570313], [56572292, 56573691], [56581104, 56581259], [56581410, 56581581], [56581663, 56581849], [56582139, 56582335], [56582832, 56582944], [56584103, 56584232], [56584483, 56584680], [56585521, 56585635], [56585828, 56585925], [56586041, 56586202], [56588789, 56588872], [56589750, 56589867], [56590212, 56590302], [56593940, 56593943]]
Promoter
Chrom Start End Description
chr17 56591880 56591907 CAGE_peak_5_at_MTMR4_5end
chr17 56591910 56591941 CAGE_peak_4_at_MTMR4_5end
chr17 56591943 56591977 CAGE_peak_3_at_MTMR4_5end
chr17 56591978 56592056 CAGE_peak_2_at_MTMR4_5end
chr17 56595196 56595259 CAGE_peak_1_at_MTMR4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I058327 58327280 58348034 2.63 [{'connected_gene': 'TSPOAP1', 'score': 565.91}, {'connected_gene': 'MIR4736', 'score': 550.77}, {'connected_gene': 'SRSF1', 'score': 52.05}, {'connected_gene': 'MKS1', 'score': 28.81}, {'connected_gene': 'SUPT4H1', 'score': 22.33}, {'connected_gene': 'VEZF1', 'score': 21.83}, {'connected_gene': 'TRIM37', 'score': 15.01}, {'connected_gene': 'DYNLL2', 'score': 5.1}, {'connected_gene': 'TEX14', 'score': 4.62}, {'connected_gene': 'MTMR4', 'score': 3.94}, {'connected_gene': 'MPO', 'score': 3.52}, {'connected_gene': 'RAD51C', 'score': 1.76}, {'connected_gene': 'HSF5', 'score': 1.51}, {'connected_gene': 'OR4D2', 'score': 1.44}, {'connected_gene': 'MIR142', 'score': 0.44}, {'connected_gene': 'ENSG00000265206', 'score': 0.44}, {'connected_gene': 'TSPOAP1-AS1', 'score': 0.39}]
chr17 GH17I058711 58711100 58711249 0.63 [{'connected_gene': 'MTMR4', 'score': 10.42}, {'connected_gene': 'GC17M058695', 'score': 0.44}, {'connected_gene': 'RAD51C', 'score': 0.37}, {'connected_gene': 'ENSG00000274198', 'score': 0.28}]
chr17 GH17I058626 58626673 58627673 0.31 [{'connected_gene': 'MTMR4', 'score': 10.87}, {'connected_gene': 'ENSG00000212195', 'score': 0.77}, {'connected_gene': 'GC17M058632', 'score': 0.77}, {'connected_gene': 'PIR61090', 'score': 0.39}, {'connected_gene': 'TEX14', 'score': 0.21}]
chr17 GH17I058511 58511776 58520656 2.32 [{'connected_gene': 'MTMR4', 'score': 550.77}, {'connected_gene': 'TRIM37', 'score': 38.17}, {'connected_gene': 'RAD51C', 'score': 30.03}, {'connected_gene': 'SRSF1', 'score': 24.29}, {'connected_gene': 'MKS1', 'score': 19.25}, {'connected_gene': 'HSF5', 'score': 11.65}, {'connected_gene': 'VEZF1', 'score': 11.58}, {'connected_gene': 'SEPT4', 'score': 11.09}, {'connected_gene': 'C17orf47', 'score': 11.06}, {'connected_gene': 'SMG8', 'score': 10.35}, {'connected_gene': 'SUPT4H1', 'score': 9.72}, {'connected_gene': 'RNF43', 'score': 8.73}, {'connected_gene': 'SEPT4-AS1', 'score': 0.77}, {'connected_gene': 'PIR59993', 'score': 0.31}]
chr17 GH17I058349 58349516 58349601 0.42 [{'connected_gene': 'SUPT4H1', 'score': 1.95}, {'connected_gene': 'MTMR4', 'score': 1.35}, {'connected_gene': 'MIR4736', 'score': 0.39}, {'connected_gene': 'TSPOAP1-AS1', 'score': 0.34}]
chr17 GH17I058559 58559800 58561482 0.63 [{'connected_gene': 'RAD51C', 'score': 29.95}, {'connected_gene': 'ENSG00000224738', 'score': 12.88}, {'connected_gene': 'TRIM37', 'score': 12.41}, {'connected_gene': 'MTMR4', 'score': 11.22}, {'connected_gene': 'ENSG00000212195', 'score': 11.05}, {'connected_gene': 'RNF43', 'score': 9.18}, {'connected_gene': 'C17orf47', 'score': 0.37}, {'connected_gene': 'PIR55527', 'score': 0.23}, {'connected_gene': 'TEX14', 'score': 0.12}]
chr17 GH17I058624 58624494 58625883 0.38 [{'connected_gene': 'RAD51C', 'score': 41.25}, {'connected_gene': 'TRIM37', 'score': 32.92}, {'connected_gene': 'TEX14', 'score': 14.91}, {'connected_gene': 'SEPT4', 'score': 11.14}, {'connected_gene': 'C17orf47', 'score': 11.14}, {'connected_gene': 'MTMR4', 'score': 10.87}, {'connected_gene': 'ENSG00000212195', 'score': 0.44}, {'connected_gene': 'GC17M058632', 'score': 0.44}, {'connected_gene': 'PIR61090', 'score': 0.39}]
chr17 GH17I058565 58565611 58566223 0.62 [{'connected_gene': 'RAD51C', 'score': 29.96}, {'connected_gene': 'ENSG00000224738', 'score': 12.88}, {'connected_gene': 'C17orf47', 'score': 12.35}, {'connected_gene': 'SEPT4', 'score': 12.32}, {'connected_gene': 'MTMR4', 'score': 11.51}, {'connected_gene': 'TEX14', 'score': 7.88}, {'connected_gene': 'PIR55527', 'score': 0.25}]
chr17 GH17I058491 58491711 58493637 0.96 [{'connected_gene': 'RNF43', 'score': 18.82}, {'connected_gene': 'MTMR4', 'score': 11.08}, {'connected_gene': 'PIR59993', 'score': 0.77}]
chr17 GH17I058510 58510279 58510383 0.62 [{'connected_gene': 'SEPT4', 'score': 11.71}, {'connected_gene': 'HSF5', 'score': 11.68}, {'connected_gene': 'C17orf47', 'score': 10.5}, {'connected_gene': 'SUPT4H1', 'score': 9.73}, {'connected_gene': 'MTMR4', 'score': 4.62}, {'connected_gene': 'DYNLL2', 'score': 2.23}, {'connected_gene': 'PPM1E', 'score': 2.02}, {'connected_gene': 'MKS1', 'score': 1.14}, {'connected_gene': 'PIR59993', 'score': 0.37}]
chr17 GH17I058350 58350833 58351138 0.58 [{'connected_gene': 'TRIM37', 'score': 4.41}, {'connected_gene': 'MTMR4', 'score': 4.11}, {'connected_gene': 'SUPT4H1', 'score': 3.35}, {'connected_gene': 'VEZF1', 'score': 2.66}, {'connected_gene': 'MIR4736', 'score': 0.39}, {'connected_gene': 'TSPOAP1-AS1', 'score': 0.31}]
chr17 GH17I058407 58407253 58409926 0.49 [{'connected_gene': 'TRIM37', 'score': 27.94}, {'connected_gene': 'SUPT4H1', 'score': 11.35}, {'connected_gene': 'TSPOAP1', 'score': 11.24}, {'connected_gene': 'SRSF1', 'score': 11.2}, {'connected_gene': 'HSF5', 'score': 11.11}, {'connected_gene': 'LPO', 'score': 9.58}, {'connected_gene': 'MTMR4', 'score': 9.04}, {'connected_gene': 'RNF43', 'score': 0.44}, {'connected_gene': 'TSPOAP1-AS1', 'score': 0.18}]
chr17 GH17I058406 58406833 58407091 0.38 [{'connected_gene': 'TRIM37', 'score': 27.9}, {'connected_gene': 'SUPT4H1', 'score': 11.29}, {'connected_gene': 'SRSF1', 'score': 11.2}, {'connected_gene': 'HSF5', 'score': 11.11}, {'connected_gene': 'TSPOAP1', 'score': 10.53}, {'connected_gene': 'LPO', 'score': 9.58}, {'connected_gene': 'MTMR4', 'score': 9.03}, {'connected_gene': 'RNF43', 'score': 0.39}, {'connected_gene': 'TSPOAP1-AS1', 'score': 0.18}]
chr17 GH17I058405 58405300 58406305 0.7 [{'connected_gene': 'TRIM37', 'score': 29.34}, {'connected_gene': 'SUPT4H1', 'score': 11.29}, {'connected_gene': 'HSF5', 'score': 11.11}, {'connected_gene': 'TSPOAP1', 'score': 10.53}, {'connected_gene': 'LPO', 'score': 9.58}, {'connected_gene': 'MTMR4', 'score': 9.03}, {'connected_gene': 'RNF43', 'score': 0.39}, {'connected_gene': 'TSPOAP1-AS1', 'score': 0.18}]
chr17 GH17I058400 58400881 58404651 0.95 [{'connected_gene': 'TRIM37', 'score': 29.08}, {'connected_gene': 'RAD51C', 'score': 25.88}, {'connected_gene': 'SUPT4H1', 'score': 11.31}, {'connected_gene': 'HSF5', 'score': 11.1}, {'connected_gene': 'TSPOAP1', 'score': 10.63}, {'connected_gene': 'LPO', 'score': 9.58}, {'connected_gene': 'MTMR4', 'score': 9.1}, {'connected_gene': 'RNF43', 'score': 9.06}, {'connected_gene': 'TSPOAP1-AS1', 'score': 0.18}]
chr17 GH17I058374 58374782 58385131 1.42 [{'connected_gene': 'TRIM37', 'score': 28.87}, {'connected_gene': 'RAD51C', 'score': 25.88}, {'connected_gene': 'RNF43', 'score': 20.64}, {'connected_gene': 'SRSF1', 'score': 16.03}, {'connected_gene': 'SUPT4H1', 'score': 11.9}, {'connected_gene': 'MKS1', 'score': 11.01}, {'connected_gene': 'HSF5', 'score': 10.98}, {'connected_gene': 'LPO', 'score': 10.39}, {'connected_gene': 'EPX', 'score': 10.24}, {'connected_gene': 'MSX2P1', 'score': 9.4}, {'connected_gene': 'OR4D1', 'score': 9.4}, {'connected_gene': 'MTMR4', 'score': 9.21}, {'connected_gene': 'TSPOAP1-AS1', 'score': 0.23}]
chr17 GH17I058503 58503782 58506158 1.09 [{'connected_gene': 'TRIM37', 'score': 33.85}, {'connected_gene': 'RAD51C', 'score': 29.74}, {'connected_gene': 'RNF43', 'score': 19.23}, {'connected_gene': 'SEPT4', 'score': 10.85}, {'connected_gene': 'C17orf47', 'score': 10.85}, {'connected_gene': 'SUPT4H1', 'score': 10.34}, {'connected_gene': 'MKS1', 'score': 9.73}, {'connected_gene': 'MTMR4', 'score': 0.39}, {'connected_gene': 'PIR59993', 'score': 0.39}]
chr17 GH17I058575 58575281 58577889 0.87 [{'connected_gene': 'TRIM37', 'score': 38.17}, {'connected_gene': 'RAD51C', 'score': 29.96}, {'connected_gene': 'ENSG00000224738', 'score': 12.88}, {'connected_gene': 'C17orf47', 'score': 11.76}, {'connected_gene': 'SEPT4', 'score': 11.74}, {'connected_gene': 'MTMR4', 'score': 11.49}, {'connected_gene': 'TEX14', 'score': 4.25}, {'connected_gene': 'PIR55527', 'score': 0.29}]
chr17 GH17I058506 58506506 58508433 0.89 [{'connected_gene': 'TRIM37', 'score': 38.31}, {'connected_gene': 'SEPT4', 'score': 10.87}, {'connected_gene': 'C17orf47', 'score': 10.85}, {'connected_gene': 'RNF43', 'score': 10.45}, {'connected_gene': 'SUPT4H1', 'score': 10.07}, {'connected_gene': 'MKS1', 'score': 9.73}, {'connected_gene': 'MTMR4', 'score': 0.39}, {'connected_gene': 'PIR59993', 'score': 0.37}]
chr17 GH17I058570 58568620 58568769 0.43 [{'connected_gene': 'TRIM37', 'score': 38.4}, {'connected_gene': 'C17orf47', 'score': 12.35}, {'connected_gene': 'SEPT4', 'score': 12.32}, {'connected_gene': 'MTMR4', 'score': 11.5}, {'connected_gene': 'PIR55527', 'score': 0.26}, {'connected_gene': 'TEX14', 'score': 0.13}]
chr17 GH17I059046 59046380 59046469 0.52 [{'connected_gene': 'MIR301A', 'score': 10.98}, {'connected_gene': 'SMG8', 'score': 10.1}, {'connected_gene': 'MTMR4', 'score': 9.4}, {'connected_gene': 'GC17P059054', 'score': 0.44}, {'connected_gene': 'GC17M059024', 'score': 0.34}, {'connected_gene': 'TRIM37', 'score': 0.21}]
chr17 GH17I058568 58568801 58569400 0.43 [{'connected_gene': 'C17orf47', 'score': 12.35}, {'connected_gene': 'SEPT4', 'score': 12.32}, {'connected_gene': 'MTMR4', 'score': 11.5}, {'connected_gene': 'PIR55527', 'score': 0.26}, {'connected_gene': 'TEX14', 'score': 0.13}]
chr17 GH17I058616 58616160 58616309 0.69 [{'connected_gene': 'C17orf47', 'score': 11.37}, {'connected_gene': 'SEPT4', 'score': 11.36}, {'connected_gene': 'MTMR4', 'score': 10.65}, {'connected_gene': 'PIR61090', 'score': 0.77}, {'connected_gene': 'ENSG00000212195', 'score': 0.37}, {'connected_gene': 'GC17M058632', 'score': 0.37}, {'connected_gene': 'TEX14', 'score': 0.18}]
chr17 GH17I058569 58568001 58568400 0.38 [{'connected_gene': 'C17orf47', 'score': 12.35}, {'connected_gene': 'SEPT4', 'score': 12.32}, {'connected_gene': 'MTMR4', 'score': 11.5}, {'connected_gene': 'PIR55527', 'score': 0.26}, {'connected_gene': 'TEX14', 'score': 0.13}]
chr17 GH17I058623 58623874 58624300 0.42 [{'connected_gene': 'C17orf47', 'score': 11.15}, {'connected_gene': 'SEPT4', 'score': 11.14}, {'connected_gene': 'RAD51C', 'score': 10.91}, {'connected_gene': 'TEX14', 'score': 10.91}, {'connected_gene': 'MTMR4', 'score': 10.49}, {'connected_gene': 'OR4D1', 'score': 2.19}, {'connected_gene': 'TSPOAP1', 'score': 1.4}, {'connected_gene': 'ENSG00000212195', 'score': 0.44}, {'connected_gene': 'GC17M058632', 'score': 0.44}, {'connected_gene': 'PIR61090', 'score': 0.39}]
chr17 GH17I058991 58991159 58994213 0.98 [{'connected_gene': 'PPM1E', 'score': 10.78}, {'connected_gene': 'MTMR4', 'score': 10.42}, {'connected_gene': 'ENSG00000212195', 'score': 10.24}, {'connected_gene': 'GC17P058985', 'score': 0.44}, {'connected_gene': 'GC17M059024', 'score': 0.29}, {'connected_gene': 'TRIM37', 'score': 0.14}]
chr17 GH17I058152 58152166 58154181 0.71 [{'connected_gene': 'HSF5', 'score': 2.07}, {'connected_gene': 'MTMR4', 'score': 1.96}, {'connected_gene': 'MSX2P1', 'score': 0.77}, {'connected_gene': 'OR4D1', 'score': 0.77}, {'connected_gene': 'GC17M057928', 'score': 0.31}]
chr17 GH17I058489 58489980 58490129 0.2 [{'connected_gene': 'HSF5', 'score': 550.77}, {'connected_gene': 'PIR59993', 'score': 550.77}, {'connected_gene': 'MTMR4', 'score': 0.31}]
chr17 GH17I058081 58081553 58085752 2.26 [{'connected_gene': 'LOC101927666', 'score': 558.81}, {'connected_gene': 'DYNLL2', 'score': 557.38}, {'connected_gene': 'ENSG00000264112', 'score': 12.08}, {'connected_gene': 'SRSF1', 'score': 10.15}, {'connected_gene': 'VEZF1', 'score': 1.62}, {'connected_gene': 'MTMR4', 'score': 1.46}, {'connected_gene': 'GC17P058094', 'score': 0.44}, {'connected_gene': 'GC17M057928', 'score': 0.15}]
chr17 GH17I058658 58658002 58660018 2.4 [{'connected_gene': 'GC17M058661', 'score': 550.77}, {'connected_gene': 'TEX14', 'score': 550.29}, {'connected_gene': 'SRSF1', 'score': 97.53}, {'connected_gene': 'MKS1', 'score': 68.69}, {'connected_gene': 'TRIM37', 'score': 37.42}, {'connected_gene': 'RAD51C', 'score': 30.65}, {'connected_gene': 'DHX40', 'score': 27.37}, {'connected_gene': 'SMG8', 'score': 22.86}, {'connected_gene': 'VEZF1', 'score': 21.11}, {'connected_gene': 'MTMR4', 'score': 1.89}, {'connected_gene': 'PPM1E', 'score': 1.47}, {'connected_gene': 'SEPT4', 'score': 1.2}, {'connected_gene': 'IGBP1P2', 'score': 0.77}, {'connected_gene': 'LOC105371842', 'score': 0.31}]
chr17 GH17I058587 58587760 58587949 0.8 [{'connected_gene': 'ENSG00000212195', 'score': 12.58}, {'connected_gene': 'C17orf47', 'score': 11.72}, {'connected_gene': 'SEPT4', 'score': 11.71}, {'connected_gene': 'MTMR4', 'score': 10.83}, {'connected_gene': 'PIR55527', 'score': 0.34}, {'connected_gene': 'TEX14', 'score': 0.15}]
chr17 GH17I058630 58630585 58633177 1.85 [{'connected_gene': 'ENSG00000212195', 'score': 550.77}, {'connected_gene': 'GC17M058632', 'score': 550.77}, {'connected_gene': 'LOC105371842', 'score': 550.77}, {'connected_gene': 'SRSF1', 'score': 109.64}, {'connected_gene': 'MKS1', 'score': 76.69}, {'connected_gene': 'TRIM37', 'score': 46.21}, {'connected_gene': 'DHX40', 'score': 37.35}, {'connected_gene': 'RAD51C', 'score': 34.56}, {'connected_gene': 'VEZF1', 'score': 21.11}, {'connected_gene': 'SKA2', 'score': 18.05}, {'connected_gene': 'TEX14', 'score': 16.48}, {'connected_gene': 'SMG8', 'score': 13.98}, {'connected_gene': 'TSPOAP1', 'score': 13.22}, {'connected_gene': 'RNU1-108P', 'score': 13.07}, {'connected_gene': 'MTMR4', 'score': 10.85}]

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