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
ENST00000278505 [[94822973, 94823391], [94861540, 94865809]] [[94823091, 94823391], [94861540, 94862743]]
NM_015036 [[94822973, 94823391], [94861540, 94865815]] [[94823091, 94823391], [94861540, 94862743]]
Promoter
Chrom Start End Description
chr11 94822729 94822744 CAGE_peak_7_at_ENDOD1_5end
chr11 94822746 94822757 CAGE_peak_8_at_ENDOD1_5end
chr11 94822968 94823042 CAGE_peak_1_at_ENDOD1_5end
chr11 94823060 94823069 CAGE_peak_2_at_ENDOD1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I095156 95156263 95158392 0.54 [{'connected_gene': 'ENDOD1', 'score': 18.82}, {'connected_gene': 'CEP57', 'score': 11.02}, {'connected_gene': 'FAM76B', 'score': 11.02}, {'connected_gene': 'SESN3', 'score': 9.74}, {'connected_gene': 'GC11M095158', 'score': 0.77}, {'connected_gene': 'LOC101929295', 'score': 0.44}]
chr11 GH11I095140 95140367 95141466 0.76 [{'connected_gene': 'ENDOD1', 'score': 19.29}, {'connected_gene': 'KDM4E', 'score': 9.59}, {'connected_gene': 'GC11P095138', 'score': 0.77}, {'connected_gene': 'BUD13P1', 'score': 0.77}]
chr11 GH11I095088 95088429 95091308 2.13 [{'connected_gene': 'ENDOD1', 'score': 558.47}, {'connected_gene': 'GC11P095088', 'score': 550.77}, {'connected_gene': 'SRSF8', 'score': 17.07}, {'connected_gene': 'LOC101929295', 'score': 11.03}, {'connected_gene': 'KDM4E', 'score': 9.77}, {'connected_gene': 'GC11P095093', 'score': 0.77}, {'connected_gene': 'GC11M095076', 'score': 0.39}]
chr11 GH11I095098 95098550 95100313 0.91 [{'connected_gene': 'ENDOD1', 'score': 11.37}, {'connected_gene': 'LOC101929295', 'score': 11.01}, {'connected_gene': 'FAM76B', 'score': 4.42}, {'connected_gene': 'GC11M095076', 'score': 0.77}, {'connected_gene': 'GC11P095093', 'score': 0.44}]
chr11 GH11I095076 95076177 95076924 0.87 [{'connected_gene': 'ENDOD1', 'score': 19.81}, {'connected_gene': 'LOC101929295', 'score': 11.63}, {'connected_gene': 'GC11P095067', 'score': 0.44}, {'connected_gene': 'GC11P095083', 'score': 0.44}, {'connected_gene': 'GC11M095076', 'score': 0.31}]
chr11 GH11I095133 95133070 95135995 1.02 [{'connected_gene': 'ENDOD1', 'score': 23.8}, {'connected_gene': 'BUD13P1', 'score': 15.6}, {'connected_gene': 'ENSG00000270578', 'score': 13.63}, {'connected_gene': 'CWC15', 'score': 10.44}, {'connected_gene': 'KDM4D', 'score': 10.44}, {'connected_gene': 'KDM4E', 'score': 9.76}, {'connected_gene': 'SRSF8', 'score': 4.99}, {'connected_gene': 'LOC105369435', 'score': 4.66}, {'connected_gene': 'GC11P095138', 'score': 0.77}, {'connected_gene': 'GC11M095076', 'score': 0.29}]
chr11 GH11I095119 95119306 95120487 0.58 [{'connected_gene': 'ENDOD1', 'score': 5.19}, {'connected_gene': 'GC11P095138', 'score': 0.37}, {'connected_gene': 'GC11M095076', 'score': 0.37}]
chr11 GH11I095123 95123404 95124008 0.2 [{'connected_gene': 'ENDOD1', 'score': 5.22}, {'connected_gene': 'GC11P095138', 'score': 0.39}, {'connected_gene': 'GC11M095076', 'score': 0.34}]
chr11 GH11I095252 95252327 95257755 1.55 [{'connected_gene': 'SESN3', 'score': 12.14}, {'connected_gene': 'LOC101929295', 'score': 11.94}, {'connected_gene': 'ENDOD1', 'score': 4.96}, {'connected_gene': 'GC11M095260', 'score': 0.44}, {'connected_gene': 'GC11M095250', 'score': 0.18}]
chr11 GH11I095066 95066276 95069947 2.28 [{'connected_gene': 'SRSF8', 'score': 563.59}, {'connected_gene': 'GC11P095067', 'score': 550.77}, {'connected_gene': 'GC11M095066', 'score': 550.77}, {'connected_gene': 'ENDOD1', 'score': 17.07}, {'connected_gene': 'LOC101929295', 'score': 11.86}, {'connected_gene': 'KDM4E', 'score': 10.68}, {'connected_gene': 'CWC15', 'score': 10.61}, {'connected_gene': 'KDM4D', 'score': 10.61}, {'connected_gene': 'MTMR2', 'score': 10.42}, {'connected_gene': 'GC11P095083', 'score': 0.37}]
chr11 GH11I095077 95077821 95079302 0.31 [{'connected_gene': 'SRSF8', 'score': 12.78}, {'connected_gene': 'ENDOD1', 'score': 11.79}, {'connected_gene': 'LOC101929295', 'score': 11.63}, {'connected_gene': 'GC11P095083', 'score': 0.77}, {'connected_gene': 'GC11P095067', 'score': 0.39}, {'connected_gene': 'GC11M095076', 'score': 0.34}]
chr11 GH11I095085 95085954 95086553 0.56 [{'connected_gene': 'SRSF8', 'score': 17.36}, {'connected_gene': 'ENDOD1', 'score': 6.05}, {'connected_gene': 'GC11P095088', 'score': 0.77}, {'connected_gene': 'GC11P095083', 'score': 0.77}, {'connected_gene': 'GC11M095076', 'score': 0.37}]
chr11 GH11I095074 95074517 95075493 1.04 [{'connected_gene': 'SRSF8', 'score': 14.45}, {'connected_gene': 'LOC101929295', 'score': 11.62}, {'connected_gene': 'ENDOD1', 'score': 5.67}, {'connected_gene': 'GC11P095067', 'score': 0.44}, {'connected_gene': 'GC11P095083', 'score': 0.44}]
chr11 GH11I095080 95080052 95080870 0.2 [{'connected_gene': 'SRSF8', 'score': 12.32}, {'connected_gene': 'LOC101929295', 'score': 11.63}, {'connected_gene': 'ENDOD1', 'score': 8.77}, {'connected_gene': 'GC11P095083', 'score': 0.77}, {'connected_gene': 'GC11P095067', 'score': 0.39}, {'connected_gene': 'GC11M095076', 'score': 0.34}]
chr11 GH11I095146 95146608 95154450 2.25 [{'connected_gene': 'LOC101929295', 'score': 556.79}, {'connected_gene': 'CEP57', 'score': 20.31}, {'connected_gene': 'FAM76B', 'score': 16.44}, {'connected_gene': 'FGFR3P2', 'score': 15.64}, {'connected_gene': 'SESN3', 'score': 15.61}, {'connected_gene': 'ANKRD49', 'score': 13.94}, {'connected_gene': 'MRE11', 'score': 12.94}, {'connected_gene': 'SRSF8', 'score': 7.48}, {'connected_gene': 'ENDOD1', 'score': 6.65}, {'connected_gene': 'LOC105369435', 'score': 5.31}, {'connected_gene': 'CWC15', 'score': 1.93}, {'connected_gene': 'KDM4E', 'score': 1.7}, {'connected_gene': 'ENSG00000270578', 'score': 0.44}]
chr11 GH11I095097 95097133 95098135 0.31 [{'connected_gene': 'LOC101929295', 'score': 11.02}, {'connected_gene': 'CWC15', 'score': 10.04}, {'connected_gene': 'KDM4D', 'score': 10.04}, {'connected_gene': 'KDM4E', 'score': 9.42}, {'connected_gene': 'GC11M095076', 'score': 0.77}, {'connected_gene': 'GC11P095093', 'score': 0.77}, {'connected_gene': 'ENDOD1', 'score': 0.44}]
chr11 GH11I095106 95106008 95109872 1.64 [{'connected_gene': 'LOC101929295', 'score': 11.29}, {'connected_gene': 'CWC15', 'score': 9.3}, {'connected_gene': 'KDM4D', 'score': 9.3}, {'connected_gene': 'ENDOD1', 'score': 5.93}, {'connected_gene': 'GC11M095076', 'score': 0.44}, {'connected_gene': 'GC11P095138', 'score': 0.29}]
chr11 GH11I095103 95102917 95105789 0.72 [{'connected_gene': 'LOC101929295', 'score': 11.17}, {'connected_gene': 'KDM4E', 'score': 10.27}, {'connected_gene': 'CWC15', 'score': 9.3}, {'connected_gene': 'KDM4D', 'score': 9.3}, {'connected_gene': 'SRSF8', 'score': 6.8}, {'connected_gene': 'ENDOD1', 'score': 4.81}, {'connected_gene': 'GC11M095076', 'score': 0.77}, {'connected_gene': 'GC11P095138', 'score': 0.29}]
chr11 GH11I095095 95095413 95097075 1.14 [{'connected_gene': 'LOC101929295', 'score': 11.04}, {'connected_gene': 'ENDOD1', 'score': 10.99}, {'connected_gene': 'CWC15', 'score': 10.04}, {'connected_gene': 'KDM4D', 'score': 10.04}, {'connected_gene': 'KDM4E', 'score': 9.48}, {'connected_gene': 'GC11P095093', 'score': 0.77}, {'connected_gene': 'GC11M095076', 'score': 0.44}]
chr11 GH11I095143 95143237 95143386 0.31 [{'connected_gene': 'BUD13P1', 'score': 550.77}, {'connected_gene': 'ENDOD1', 'score': 10.72}, {'connected_gene': 'KDM4E', 'score': 9.59}, {'connected_gene': 'GC11P095138', 'score': 0.77}]
chr11 GH11I095100 95100817 95102538 0.76 [{'connected_gene': 'GC11M095076', 'score': 550.77}, {'connected_gene': 'ENDOD1', 'score': 12.63}, {'connected_gene': 'LOC101929295', 'score': 11.02}, {'connected_gene': 'SRSF8', 'score': 5.38}, {'connected_gene': 'GC11P095093', 'score': 0.44}]
chr11 GH11I095084 95084562 95085822 0.65 [{'connected_gene': 'GC11P095083', 'score': 550.77}, {'connected_gene': 'SRSF8', 'score': 17.59}, {'connected_gene': 'ENDOD1', 'score': 7.45}, {'connected_gene': 'GC11P095088', 'score': 0.77}, {'connected_gene': 'GC11M095076', 'score': 0.37}]
chr11 GH11I095091 95091362 95094060 1.45 [{'connected_gene': 'GC11P095093', 'score': 550.77}, {'connected_gene': 'LOC101929295', 'score': 11.04}, {'connected_gene': 'KDM4E', 'score': 9.77}, {'connected_gene': 'ENDOD1', 'score': 8.46}, {'connected_gene': 'SRSF8', 'score': 7.01}, {'connected_gene': 'GC11M095076', 'score': 0.44}]
chr11 GH11I095102 95102717 95102866 0.4 [{'connected_gene': 'GC11M095076', 'score': 550.77}, {'connected_gene': 'LOC101929295', 'score': 11.04}, {'connected_gene': 'ENDOD1', 'score': 0.39}, {'connected_gene': 'GC11P095138', 'score': 0.28}]