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
ENST00000534797 [[494511, 494778], [494882, 495053], [497970, 498141], [498456, 498627], [498762, 498933], [499014, 499185], [499828, 499999], [500483, 500654], [502061, 503570]] [[494690, 494778], [494882, 495053], [497970, 498141], [498456, 498627], [498762, 498933], [499014, 499185], [499828, 499999], [500483, 500654], [502061, 502162]]
ENST00000397614 [[494512, 494778], [494882, 495053], [497970, 498141], [498456, 498627], [498762, 498933], [499014, 499185], [499828, 499999], [500483, 500654], [502061, 502249], [506608, 506821]] [[494690, 494778], [494882, 495053], [497970, 498141], [498456, 498627], [498762, 498933], [499014, 499185], [499828, 499999], [500483, 500654], [502061, 502162]]
ENST00000397615 [[494514, 494778], [494882, 495053], [497970, 498141], [498456, 498627], [498762, 498933], [499014, 499185], [499828, 499999], [500483, 500654], [502061, 502249], [504823, 504996], [506608, 506800]] [[494690, 494778], [494882, 495053], [497970, 498141], [498456, 498627], [498762, 498933], [499014, 499185], [499828, 499999], [500483, 500654], [502061, 502162]]
ENST00000397604 [[494514, 494778], [494882, 495053], [497970, 498141], [498456, 498627], [498762, 498933], [499014, 499185], [499828, 499999], [500483, 500654], [502061, 502181], [507112, 507253]] [[494690, 494778], [494882, 495053], [497970, 498141], [498456, 498627], [498762, 498933], [499014, 499185], [499828, 499999], [500483, 500654], [502061, 502162]]
ENST00000525522 [[494515, 494778], [494882, 495053], [497970, 498141], [498456, 498627], [498762, 498933], [499014, 499999], [500483, 500654], [502061, 502181], [504823, 505881]] None
ENST00000525701 [[494522, 494778], [494882, 495053], [497970, 498141], [498456, 498627], [498762, 498933], [499014, 499185], [499828, 499923], [500483, 500738], [502061, 502249], [507112, 507257]] [[500731, 500738], [502061, 502162]]
ENST00000529768 [[494543, 495053], [497970, 498141], [498456, 498627], [498762, 498929]] [[494704, 495053], [497970, 498141], [498456, 498627], [498762, 498929]]
ENST00000533410 [[494545, 494778], [494882, 495053], [497970, 498141], [498456, 498627], [498762, 498933], [499014, 499185], [499828, 499999], [500483, 500654], [502061, 502181], [504823, 504996], [507112, 507218]] [[494690, 494778], [494882, 495053], [497970, 498141], [498456, 498627], [498762, 498933], [499014, 499185], [499828, 499999], [500483, 500654], [502061, 502162]]
ENST00000438658 [[494547, 494778], [494882, 495053], [497970, 498141], [498456, 498627], [498762, 498933], [499014, 499185], [499828, 499999], [500483, 500654], [502061, 502181], [506608, 506785]] [[494690, 494778], [494882, 495053], [497970, 498141], [498456, 498627], [498762, 498933], [499014, 499185], [499828, 499999], [500483, 500654], [502061, 502162]]
ENST00000354420 [[494551, 494778], [494882, 495053], [497970, 498141], [498456, 498627], [498762, 498933], [499014, 499185], [499828, 499999], [500483, 500654], [502061, 502249], [504823, 504996], [507112, 507221]] [[494690, 494778], [494882, 495053], [497970, 498141], [498456, 498627], [498762, 498933], [499014, 499185], [499828, 499999], [500483, 500654], [502061, 502162]]
ENST00000356187 [[494560, 494778], [494882, 495053], [497970, 498141], [498456, 498627], [498762, 498933], [499014, 499185], [499828, 499999], [500483, 500654], [502061, 502249], [507112, 507300]] [[494690, 494778], [494882, 495053], [497970, 498141], [498456, 498627], [498762, 498933], [499014, 499185], [499828, 499999], [500483, 500654], [502061, 502162]]
ENST00000524464 [[495007, 495053], [497970, 498141], [498456, 498515], [500541, 500654], [502061, 502181], [507112, 507227]] [[498495, 498515], [500541, 500654], [502061, 502162]]
ENST00000529115 [[498787, 498933], [499014, 499185], [499828, 499923], [500483, 500654], [502061, 502181], [507112, 507264]] [[499045, 499185], [499828, 499923], [500483, 500654], [502061, 502162]]
ENST00000527485 [[499030, 499185], [499828, 499999], [500483, 500654], [502061, 502249], [506608, 506796]] [[499030, 499185], [499828, 499999], [500483, 500654], [502061, 502162]]
ENST00000529368 [[499046, 499185], [499828, 499999], [500483, 500654], [502061, 502181], [504426, 504552]] [[499046, 499185], [499828, 499999], [500483, 500654], [502061, 502162]]
ENST00000529306 [[499061, 499185], [499828, 499999], [500483, 500654], [502061, 502249], [504823, 504888], [506608, 506759]] [[499061, 499185], [499828, 499999], [500483, 500654], [502061, 502162]]
ENST00000524780 [[499399, 499999], [500483, 500654], [502061, 502249], [507112, 507212]] None
ENST00000531149 [[499500, 499600], [499828, 499999], [500483, 500654], [502061, 502181], [507112, 507259]] [[499500, 499600], [499828, 499999], [500483, 500654], [502061, 502162]]
ENST00000531223 [[499676, 499923], [500483, 500654], [502061, 502215]] None
ENST00000528713 [[499896, 500654], [502061, 502249], [504823, 504996], [507112, 507195]] None
ENST00000532055 [[500634, 500654], [502061, 502249], [504823, 504996], [505377, 505461], [506077, 506316]] [[500634, 500654], [502061, 502162]]
ENST00000533592 [[500846, 503183]] None
ENST00000531540 [[502136, 502181], [504823, 504996], [506077, 506339]] [[502136, 502162]]
ENST00000526295 [[502213, 502249], [504823, 504996], [506077, 506356]] None
NM_002939 [[494511, 494778], [494882, 495053], [497970, 498141], [498456, 498627], [498762, 498933], [499014, 499185], [499828, 499999], [500483, 500654], [502061, 502249], [504823, 504996], [506608, 506821]] [[494690, 494778], [494882, 495053], [497970, 498141], [498456, 498627], [498762, 498933], [499014, 499185], [499828, 499999], [500483, 500654], [502061, 502162]]
NM_203383 [[494511, 494778], [494882, 495053], [497970, 498141], [498456, 498627], [498762, 498933], [499014, 499185], [499828, 499999], [500483, 500654], [502061, 502181], [504823, 504996], [506608, 506821]] [[494690, 494778], [494882, 495053], [497970, 498141], [498456, 498627], [498762, 498933], [499014, 499185], [499828, 499999], [500483, 500654], [502061, 502162]]
NM_203385 [[494511, 494778], [494882, 495053], [497970, 498141], [498456, 498627], [498762, 498933], [499014, 499185], [499828, 499999], [500483, 500654], [502061, 502249], [506608, 506821]] [[494690, 494778], [494882, 495053], [497970, 498141], [498456, 498627], [498762, 498933], [499014, 499185], [499828, 499999], [500483, 500654], [502061, 502162]]
NM_203384 [[494511, 494778], [494882, 495053], [497970, 498141], [498456, 498627], [498762, 498933], [499014, 499185], [499828, 499999], [500483, 500654], [502061, 502181], [506608, 506821]] [[494690, 494778], [494882, 495053], [497970, 498141], [498456, 498627], [498762, 498933], [499014, 499185], [499828, 499999], [500483, 500654], [502061, 502162]]
NM_203387 [[494511, 494778], [494882, 495053], [497970, 498141], [498456, 498627], [498762, 498933], [499014, 499185], [499828, 499999], [500483, 500654], [502061, 502249], [504823, 504996], [507112, 507283]] [[494690, 494778], [494882, 495053], [497970, 498141], [498456, 498627], [498762, 498933], [499014, 499185], [499828, 499999], [500483, 500654], [502061, 502162]]
NM_203386 [[494511, 494778], [494882, 495053], [497970, 498141], [498456, 498627], [498762, 498933], [499014, 499185], [499828, 499999], [500483, 500654], [502061, 502181], [504823, 504996], [507112, 507283]] [[494690, 494778], [494882, 495053], [497970, 498141], [498456, 498627], [498762, 498933], [499014, 499185], [499828, 499999], [500483, 500654], [502061, 502162]]
NM_203389 [[494511, 494778], [494882, 495053], [497970, 498141], [498456, 498627], [498762, 498933], [499014, 499185], [499828, 499999], [500483, 500654], [502061, 502249], [507112, 507283]] [[494690, 494778], [494882, 495053], [497970, 498141], [498456, 498627], [498762, 498933], [499014, 499185], [499828, 499999], [500483, 500654], [502061, 502162]]
NM_203388 [[494511, 494778], [494882, 495053], [497970, 498141], [498456, 498627], [498762, 498933], [499014, 499185], [499828, 499999], [500483, 500654], [502061, 502181], [507112, 507283]] [[494690, 494778], [494882, 495053], [497970, 498141], [498456, 498627], [498762, 498933], [499014, 499185], [499828, 499999], [500483, 500654], [502061, 502162]]
Promoter
Chrom Start End Description
chr11 503521 503525 CAGE_peak_26_at_RNH1_5end
chr11 504446 504486 CAGE_peak_4_at_RNH1_5end
chr11 504489 504498 CAGE_peak_7_at_RNH1_5end
chr11 504867 504925 CAGE_peak_3_at_RNH1_5end
chr11 504942 504959 CAGE_peak_5_at_RNH1_5end
chr11 506325 506344 CAGE_peak_11_at_RNH1_5end
chr11 506739 506814 CAGE_peak_2_at_RNH1_5end
chr11 507175 507178 CAGE_peak_6_at_RNH1_5end
chr11 507184 507269 CAGE_peak_1_at_RNH1_5end