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
ENST00000355295 [[100174231, 100174520], [100190741, 100190954], [100193214, 100193356], [100194306, 100194520], [100201526, 100201600], [100203939, 100204157], [100222459, 100223046], [100227123, 100227310], [100232839, 100232951], [100234574, 100234777], [100235773, 100235908], [100237664, 100237751], [100240720, 100240855], [100243109, 100243220], [100245130, 100245633], [100249453, 100249614], [100257944, 100258407]] [[100190747, 100190954], [100193214, 100193356], [100194306, 100194520], [100201526, 100201600], [100203939, 100204157], [100222459, 100223046], [100227123, 100227310], [100232839, 100232951], [100234574, 100234777], [100235773, 100235908], [100237664, 100237751], [100240720, 100240855], [100243109, 100243220], [100245130, 100245633], [100249453, 100249614], [100257944, 100258165]]
ENST00000422139 [[100174375, 100174520], [100193214, 100193356], [100194306, 100194520], [100201526, 100201600], [100203939, 100204157], [100222459, 100223046], [100227123, 100227310], [100232839, 100232951], [100234574, 100234777], [100235773, 100235908], [100237664, 100237751], [100240720, 100240855], [100243109, 100243220], [100245130, 100245633], [100249453, 100249614], [100257944, 100258403]] [[100193229, 100193356], [100194306, 100194520], [100201526, 100201600], [100203939, 100204157], [100222459, 100223046], [100227123, 100227310], [100232839, 100232951], [100234574, 100234777], [100235773, 100235908], [100237664, 100237751], [100240720, 100240855], [100243109, 100243220], [100245130, 100245633], [100249453, 100249614], [100257944, 100258165]]
ENST00000540902 [[100230676, 100230898], [100232839, 100232951], [100234574, 100234777], [100235773, 100235908], [100240720, 100240855], [100243109, 100243220], [100245130, 100245633], [100249453, 100249614], [100257944, 100258249]] [[100235782, 100235908], [100240720, 100240855], [100243109, 100243220], [100245130, 100245633], [100249453, 100249614], [100257944, 100258165]]
ENST00000492428 [[100242623, 100243220], [100245130, 100245228]] None
NM_001302884 [[100174301, 100174520], [100193214, 100193356], [100194306, 100194520], [100201526, 100201600], [100203939, 100204157], [100222459, 100223046], [100227123, 100227310], [100232839, 100232951], [100234574, 100234777], [100235773, 100235908], [100237664, 100237751], [100240720, 100240855], [100243109, 100243220], [100245130, 100245633], [100249453, 100249614], [100257944, 100258407]] [[100193229, 100193356], [100194306, 100194520], [100201526, 100201600], [100203939, 100204157], [100222459, 100223046], [100227123, 100227310], [100232839, 100232951], [100234574, 100234777], [100235773, 100235908], [100237664, 100237751], [100240720, 100240855], [100243109, 100243220], [100245130, 100245633], [100249453, 100249614], [100257944, 100258165]]
NM_014290 [[100174301, 100174520], [100190741, 100190954], [100193214, 100193356], [100194306, 100194520], [100201526, 100201600], [100203939, 100204157], [100222459, 100223046], [100227123, 100227310], [100232839, 100232951], [100234574, 100234777], [100235773, 100235908], [100237664, 100237751], [100240720, 100240855], [100243109, 100243220], [100245130, 100245633], [100249453, 100249614], [100257944, 100258407]] [[100190747, 100190954], [100193214, 100193356], [100194306, 100194520], [100201526, 100201600], [100203939, 100204157], [100222459, 100223046], [100227123, 100227310], [100232839, 100232951], [100234574, 100234777], [100235773, 100235908], [100237664, 100237751], [100240720, 100240855], [100243109, 100243220], [100245130, 100245633], [100249453, 100249614], [100257944, 100258165]]
Promoter
Chrom Start End Description
chr9 100174295 100174318 CAGE_peak_3_at_TDRD7_5end
chr9 100174344 100174474 CAGE_peak_1_at_TDRD7_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I097404 97404407 97407730 1.13 [{'connected_gene': 'MFSD14C', 'score': 12.16}, {'connected_gene': 'LOC441454', 'score': 11.37}, {'connected_gene': 'TSTD2', 'score': 10.74}, {'connected_gene': 'ENSG00000203279', 'score': 5.71}, {'connected_gene': 'FAM220CP', 'score': 5.67}, {'connected_gene': 'VN1R51P', 'score': 3.99}, {'connected_gene': 'LOC286359', 'score': 0.44}, {'connected_gene': 'TDRD7', 'score': 0.44}, {'connected_gene': 'LOC105376167', 'score': 0.44}]
chr9 GH09I097522 97522828 97523931 0.2 [{'connected_gene': 'TMOD1', 'score': 11.77}, {'connected_gene': 'TDRD7', 'score': 10.26}, {'connected_gene': 'LOC105376168', 'score': 6.99}, {'connected_gene': 'PIR34153', 'score': 0.2}]
chr9 GH09I097520 97520197 97522445 0.31 [{'connected_gene': 'TMOD1', 'score': 11.77}, {'connected_gene': 'TDRD7', 'score': 10.26}, {'connected_gene': 'LOC105376168', 'score': 0.77}, {'connected_gene': 'PIR34153', 'score': 0.19}]
chr9 GH09I097468 97468239 97469853 0.79 [{'connected_gene': 'TMOD1', 'score': 11.58}, {'connected_gene': 'TDRD7', 'score': 11.05}]
chr9 GH09I097575 97575001 97576200 0.38 [{'connected_gene': 'TMOD1', 'score': 20.41}, {'connected_gene': 'LOC105376168', 'score': 12.07}, {'connected_gene': 'TDRD7', 'score': 10.18}, {'connected_gene': 'TRMO', 'score': 4.33}, {'connected_gene': 'PIR34153', 'score': 0.37}]
chr9 GH09I097524 97524620 97530389 1.22 [{'connected_gene': 'TMOD1', 'score': 11.74}, {'connected_gene': 'LOC105376168', 'score': 11.43}, {'connected_gene': 'TDRD7', 'score': 10.25}, {'connected_gene': 'ANKRD18CP', 'score': 5.84}, {'connected_gene': 'ENSG00000203279', 'score': 4.75}, {'connected_gene': 'AAED1', 'score': 4.63}, {'connected_gene': 'CCDC180', 'score': 4.21}, {'connected_gene': 'PIR34153', 'score': 0.2}]
chr9 GH09I097570 97570402 97572183 0.69 [{'connected_gene': 'TMOD1', 'score': 19.28}, {'connected_gene': 'LOC105376168', 'score': 12.08}, {'connected_gene': 'TDRD7', 'score': 10.19}, {'connected_gene': 'PIR34153', 'score': 0.34}]
chr9 GH09I097631 97631431 97635396 2.29 [{'connected_gene': 'NCBP1', 'score': 582.53}, {'connected_gene': 'TSTD2', 'score': 567.37}, {'connected_gene': 'MFSD14C', 'score': 22.19}, {'connected_gene': 'ZNF782', 'score': 21.82}, {'connected_gene': 'NUTM2G', 'score': 20.22}, {'connected_gene': 'ZNF322P1', 'score': 13.57}, {'connected_gene': 'ENSG00000224848', 'score': 12.63}, {'connected_gene': 'ZNF510', 'score': 12.18}, {'connected_gene': 'ENSG00000254633', 'score': 12.02}, {'connected_gene': 'XPA', 'score': 10.96}, {'connected_gene': 'LOC105376171', 'score': 10.79}, {'connected_gene': 'TDRD7', 'score': 10.74}, {'connected_gene': 'LOC441454', 'score': 10.57}, {'connected_gene': 'TMOD1', 'score': 9.21}, {'connected_gene': 'PIR37261', 'score': 0.31}, {'connected_gene': 'GC09P097607', 'score': 0.31}]
chr9 GH09I097435 97435994 97438568 0.42 [{'connected_gene': 'TDRD7', 'score': 11.41}, {'connected_gene': 'ENSG00000254633', 'score': 4.22}, {'connected_gene': 'TMOD1', 'score': 0.21}]
chr9 GH09I097418 97418426 97420108 0.76 [{'connected_gene': 'TDRD7', 'score': 0.44}, {'connected_gene': 'TMOD1', 'score': 0.18}]
chr9 GH09I097430 97430459 97430608 0.2 [{'connected_gene': 'TDRD7', 'score': 0.37}, {'connected_gene': 'TMOD1', 'score': 0.19}]
chr9 GH09I097411 97411382 97413708 2.03 [{'connected_gene': 'TDRD7', 'score': 550.77}, {'connected_gene': 'NCBP1', 'score': 22.38}, {'connected_gene': 'ZNF782', 'score': 20.3}, {'connected_gene': 'MFSD14C', 'score': 13.07}, {'connected_gene': 'NUTM2G', 'score': 10.76}, {'connected_gene': 'ZNF322P1', 'score': 9.71}, {'connected_gene': 'FAM220CP', 'score': 4.65}, {'connected_gene': 'CCDC180', 'score': 4.27}, {'connected_gene': 'TMOD1', 'score': 0.17}]
chr9 GH09I097050 97050977 97053978 0.86 [{'connected_gene': 'TDRD7', 'score': 9.52}, {'connected_gene': 'GAS2L1P2', 'score': 7.0}, {'connected_gene': 'PIR34542', 'score': 0.77}, {'connected_gene': 'CTSV', 'score': 0.39}]
chr9 GH09I097388 97388406 97389368 0.9 [{'connected_gene': 'TDRD7', 'score': 2.01}, {'connected_gene': 'LOC286359', 'score': 0.44}, {'connected_gene': 'LOC105376167', 'score': 0.44}, {'connected_gene': 'MIR1302-8', 'score': 0.31}]
chr9 GH09I097540 97540031 97540706 0.31 [{'connected_gene': 'TDRD7', 'score': 9.78}, {'connected_gene': 'LOC105376168', 'score': 0.34}, {'connected_gene': 'TMOD1', 'score': 0.28}, {'connected_gene': 'PIR34153', 'score': 0.23}]
chr9 GH09I097531 97531466 97532519 0.58 [{'connected_gene': 'TDRD7', 'score': 10.18}, {'connected_gene': 'LOC105376168', 'score': 0.39}, {'connected_gene': 'TMOD1', 'score': 0.29}, {'connected_gene': 'PIR34153', 'score': 0.21}]
chr9 GH09I097615 97615599 97615768 0.62 [{'connected_gene': 'TDRD7', 'score': 11.2}, {'connected_gene': 'LOC105376168', 'score': 10.95}, {'connected_gene': 'PIR37261', 'score': 0.44}, {'connected_gene': 'GC09P097607', 'score': 0.44}, {'connected_gene': 'TSTD2', 'score': 0.37}, {'connected_gene': 'NCBP1', 'score': 0.37}]
chr9 GH09I097533 97533409 97534096 0.31 [{'connected_gene': 'TDRD7', 'score': 10.18}, {'connected_gene': 'LOC105376168', 'score': 8.91}, {'connected_gene': 'ANKRD18CP', 'score': 5.07}, {'connected_gene': 'TMOD1', 'score': 0.29}, {'connected_gene': 'PIR34153', 'score': 0.22}]
chr9 GH09I097534 97534792 97536883 0.4 [{'connected_gene': 'TDRD7', 'score': 9.78}, {'connected_gene': 'LOC105376168', 'score': 8.89}, {'connected_gene': 'ANKRD18CP', 'score': 5.99}, {'connected_gene': 'TMOD1', 'score': 0.29}, {'connected_gene': 'PIR34153', 'score': 0.22}]
chr9 GH09I097537 97537011 97537719 0.38 [{'connected_gene': 'TDRD7', 'score': 9.78}, {'connected_gene': 'LOC105376168', 'score': 8.86}, {'connected_gene': 'ANKRD18CP', 'score': 6.19}, {'connected_gene': 'ENSG00000203279', 'score': 4.09}, {'connected_gene': 'TMOD1', 'score': 0.28}, {'connected_gene': 'PIR34153', 'score': 0.22}]
chr9 GH09I097766 97766199 97766348 0.2 [{'connected_gene': 'TDRD7', 'score': 8.83}, {'connected_gene': 'ENSG00000260677', 'score': 0.34}, {'connected_gene': 'PTCSC2', 'score': 0.17}]
chr9 GH09I097012 97012000 97014400 1.87 [{'connected_gene': 'ZNF782', 'score': 550.77}, {'connected_gene': 'MFSD14C', 'score': 550.77}, {'connected_gene': 'CTSV', 'score': 13.18}, {'connected_gene': 'AAED1', 'score': 3.4}, {'connected_gene': 'TDRD7', 'score': 2.07}, {'connected_gene': 'YRDCP2', 'score': 0.22}]
chr9 GH09I097505 97505920 97509445 0.66 [{'connected_gene': 'LOC105376168', 'score': 13.41}, {'connected_gene': 'TDRD7', 'score': 10.3}, {'connected_gene': 'TMOD1', 'score': 0.44}]
chr9 GH09I097380 97380991 97383474 1.02 [{'connected_gene': 'CCDC180', 'score': 35.88}, {'connected_gene': 'TDRD7', 'score': 11.53}, {'connected_gene': 'VN1R51P', 'score': 8.46}, {'connected_gene': 'LOC105376167', 'score': 0.39}, {'connected_gene': 'MIR1302-8', 'score': 0.37}]
chr9 GH09I096859 96859360 96860502 0.63 [{'connected_gene': 'CCDC180', 'score': 14.9}, {'connected_gene': 'ZNF510', 'score': 14.15}, {'connected_gene': 'ZNF322P1', 'score': 10.87}, {'connected_gene': 'TDRD7', 'score': 10.18}, {'connected_gene': 'ENSG00000224848', 'score': 10.01}, {'connected_gene': 'NUTM2G', 'score': 4.85}, {'connected_gene': 'LOC100132781', 'score': 0.44}, {'connected_gene': 'ZNF782', 'score': 0.1}]
chr9 GH09I096866 96866654 96867923 0.49 [{'connected_gene': 'LOC100132781', 'score': 550.77}, {'connected_gene': 'TDRD7', 'score': 9.33}, {'connected_gene': 'ZNF510', 'score': 0.17}, {'connected_gene': 'ZNF782', 'score': 0.11}]
chr9 GH09I096868 96868859 96869008 0.64 [{'connected_gene': 'LOC100132781', 'score': 550.77}, {'connected_gene': 'TDRD7', 'score': 9.33}, {'connected_gene': 'PIR60717', 'score': 0.31}, {'connected_gene': 'ZNF782', 'score': 0.11}]
chr9 GH09I097593 97593370 97595070 0.43 [{'connected_gene': 'PIR34153', 'score': 550.77}, {'connected_gene': 'TMOD1', 'score': 11.84}, {'connected_gene': 'LOC105376168', 'score': 11.45}, {'connected_gene': 'TDRD7', 'score': 10.59}, {'connected_gene': 'PIR41890', 'score': 0.44}]
chr9 GH09I097399 97399400 97399600 0.8 [{'connected_gene': 'ENSG00000203279', 'score': 10.74}, {'connected_gene': 'LOC286359', 'score': 0.77}, {'connected_gene': 'LOC105376167', 'score': 0.77}, {'connected_gene': 'TDRD7', 'score': 0.39}]
chr9 GH09I097400 97399000 97399388 1.04 [{'connected_gene': 'ENSG00000203279', 'score': 10.96}, {'connected_gene': 'LOC286359', 'score': 0.77}, {'connected_gene': 'LOC105376167', 'score': 0.77}, {'connected_gene': 'TDRD7', 'score': 0.39}]
chr9 GH09I097424 97424975 97426415 0.31 [{'connected_gene': 'ENSG00000254633', 'score': 4.24}, {'connected_gene': 'TDRD7', 'score': 0.39}, {'connected_gene': 'TMOD1', 'score': 0.18}]
chr9 GH09I096856 96856235 96859261 1.17 [{'connected_gene': 'ENSG00000224848', 'score': 16.71}, {'connected_gene': 'TDRD7', 'score': 10.98}, {'connected_gene': 'LOC100132781', 'score': 0.39}, {'connected_gene': 'ZNF510', 'score': 0.18}, {'connected_gene': 'ZNF782', 'score': 0.1}]