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
ENST00000331079 [[20409075, 20409320], [20409564, 20409700], [20411289, 20411372], [20413756, 20413806], [20414442, 20414545], [20417348, 20417508], [20419122, 20419267], [20424464, 20424530], [20429456, 20429578], [20448311, 20448411], [20473675, 20473754], [20483525, 20483713], [20486005, 20486092], [20515464, 20515515], [20515712, 20515800], [20529849, 20530799]] [[20409292, 20409320], [20409564, 20409700], [20411289, 20411372], [20413756, 20413806], [20414442, 20414545], [20417348, 20417508], [20419122, 20419267], [20424464, 20424530], [20429456, 20429578], [20448311, 20448411], [20473675, 20473754], [20483525, 20483713], [20486005, 20486092], [20515464, 20515515], [20515712, 20515800], [20529849, 20529959]]
ENST00000330796 [[20409103, 20409320], [20411289, 20411372], [20413756, 20413806], [20414442, 20414545], [20417348, 20417508], [20419122, 20419267], [20424464, 20424530], [20429456, 20429578], [20448311, 20448411], [20473675, 20473754], [20483525, 20483713], [20486005, 20486092], [20515464, 20515515], [20515712, 20515800], [20529849, 20530840]] [[20409292, 20409320], [20411289, 20411372], [20413756, 20413786]]
ENST00000437750 [[20409261, 20409320], [20411289, 20411372], [20414442, 20414545], [20417348, 20417508], [20419122, 20419267], [20424464, 20424530], [20429456, 20429578], [20448311, 20448411], [20473675, 20473754], [20483525, 20483713], [20486005, 20486092], [20515464, 20515515], [20515712, 20515800], [20529849, 20530254]] [[20409292, 20409320], [20411289, 20411372], [20414442, 20414545], [20417348, 20417508], [20419122, 20419267], [20424464, 20424530], [20429456, 20429578], [20448311, 20448411], [20473675, 20473754], [20483525, 20483713], [20486005, 20486092], [20515464, 20515515], [20515712, 20515800], [20529849, 20529959]]
ENST00000529592 [[20426991, 20429578], [20448311, 20448411], [20473675, 20473754], [20483525, 20483713], [20486005, 20486092], [20515464, 20515515], [20515712, 20515800], [20529849, 20530828]] None
ENST00000525188 [[20409185, 20409320], [20411289, 20411372], [20413756, 20413806], [20414442, 20414545], [20415336, 20415400], [20417348, 20417508], [20419122, 20419208]] [[20409292, 20409320], [20411289, 20411372], [20413756, 20413786]]
ENST00000526583 [[20409292, 20409700], [20411289, 20411372], [20413756, 20413797]] [[20409292, 20409457]]
NM_001145166 [[20409075, 20409320], [20411289, 20411372], [20414442, 20414545], [20417348, 20417508], [20419122, 20419267], [20424464, 20424530], [20429456, 20429578], [20448311, 20448411], [20473675, 20473754], [20483525, 20483713], [20486005, 20486092], [20515464, 20515515], [20515712, 20515800], [20529849, 20530879]] [[20409292, 20409320], [20411289, 20411372], [20414442, 20414545], [20417348, 20417508], [20419122, 20419267], [20424464, 20424530], [20429456, 20429578], [20448311, 20448411], [20473675, 20473754], [20483525, 20483713], [20486005, 20486092], [20515464, 20515515], [20515712, 20515800], [20529849, 20529959]]
NM_001145167 [[20409075, 20409320], [20411289, 20411372], [20413756, 20413806], [20414442, 20414545], [20417348, 20417508], [20419122, 20419267], [20424464, 20424530], [20429456, 20429578], [20448311, 20448411], [20473675, 20473754], [20483525, 20483713], [20486005, 20486092], [20515464, 20515515], [20515712, 20515800], [20529849, 20530879]] [[20411356, 20411372], [20413756, 20413806], [20414442, 20414545], [20417348, 20417508], [20419122, 20419267], [20424464, 20424530], [20429456, 20429578], [20448311, 20448411], [20473675, 20473754], [20483525, 20483713], [20486005, 20486092], [20515464, 20515515], [20515712, 20515800], [20529849, 20529959]]
NM_005788 [[20409075, 20409320], [20409564, 20409700], [20411289, 20411372], [20413756, 20413806], [20414442, 20414545], [20417348, 20417508], [20419122, 20419267], [20424464, 20424530], [20429456, 20429578], [20448311, 20448411], [20473675, 20473754], [20483525, 20483713], [20486005, 20486092], [20515464, 20515515], [20515712, 20515800], [20529849, 20530879]] [[20409292, 20409320], [20409564, 20409700], [20411289, 20411372], [20413756, 20413806], [20414442, 20414545], [20417348, 20417508], [20419122, 20419267], [20424464, 20424530], [20429456, 20429578], [20448311, 20448411], [20473675, 20473754], [20483525, 20483713], [20486005, 20486092], [20515464, 20515515], [20515712, 20515800], [20529849, 20529959]]
Promoter
Chrom Start End Description
chr11 20409070 20409164 CAGE_peak_2_at_PRMT3_5end
chr11 20409172 20409217 CAGE_peak_3_at_PRMT3_5end
chr11 20409227 20409298 CAGE_peak_1_at_PRMT3_5end
chr11 20409299 20409309 CAGE_peak_4_at_PRMT3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I020564 20564935 20565084 0.2 [{'connected_gene': 'SLC6A5', 'score': 11.01}, {'connected_gene': 'LOC105376584', 'score': 0.44}, {'connected_gene': 'PRMT3', 'score': 0.1}]
chr11 GH11I020566 20565876 20566056 0.2 [{'connected_gene': 'SLC6A5', 'score': 10.68}, {'connected_gene': 'LOC105376584', 'score': 0.44}, {'connected_gene': 'PRMT3', 'score': 0.1}]
chr11 GH11I020565 20565415 20565564 0.2 [{'connected_gene': 'SLC6A5', 'score': 10.68}, {'connected_gene': 'LOC105376584', 'score': 0.44}, {'connected_gene': 'PRMT3', 'score': 0.1}]
chr11 GH11I020366 20366246 20369782 1.13 [{'connected_gene': 'HTATIP2', 'score': 44.95}, {'connected_gene': 'SLC6A5', 'score': 9.17}, {'connected_gene': 'PRMT3', 'score': 0.37}]
chr11 GH11I020496 20496975 20497824 0.2 [{'connected_gene': 'HTATIP2', 'score': 16.52}, {'connected_gene': 'LOC105376584', 'score': 0.18}, {'connected_gene': 'PRMT3', 'score': 0.14}]
chr11 GH11I020473 20473989 20475485 0.72 [{'connected_gene': 'HTATIP2', 'score': 11.45}, {'connected_gene': 'PRMT3', 'score': 0.17}, {'connected_gene': 'LOC105376584', 'score': 0.15}]
chr11 GH11I020458 20458895 20460199 0.95 [{'connected_gene': 'HTATIP2', 'score': 21.31}, {'connected_gene': 'PRMT3', 'score': 0.19}, {'connected_gene': 'LOC105376584', 'score': 0.14}]
chr11 GH11I020362 20362695 20365897 2 [{'connected_gene': 'HTATIP2', 'score': 624.18}, {'connected_gene': 'PRMT3', 'score': 0.34}]
chr11 GH11I020544 20544343 20545294 0.31 [{'connected_gene': 'LOC105376586', 'score': 9.64}, {'connected_gene': 'NELL1', 'score': 9.64}, {'connected_gene': 'LOC105376584', 'score': 0.31}, {'connected_gene': 'PRMT3', 'score': 0.1}]
chr11 GH11I020386 20386392 20389652 2.08 [{'connected_gene': 'PRMT3', 'score': 557.24}, {'connected_gene': 'HTATIP2', 'score': 29.51}, {'connected_gene': 'LOC105376584', 'score': 0.09}]