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
ENST00000357731 [[71861622, 71873253], [72058499, 72058651], [72076708, 72076829], [72163690, 72163822], [72241854, 72241980], [72400761, 72400994], [72748001, 72748417]] [[71873128, 71873253], [72058499, 72058651], [72076708, 72076829], [72163690, 72163822], [72241854, 72241980], [72400761, 72400994], [72748001, 72748177]]
ENST00000306821 [[71868626, 71873253], [72058499, 72058651], [72076708, 72076829], [72163690, 72163822], [72241854, 72241980], [72400761, 72400994], [72566427, 72566613]] [[71873128, 71873253], [72058499, 72058651], [72076708, 72076829], [72163690, 72163822], [72241854, 72241980], [72400761, 72400786]]
ENST00000434200 [[71873128, 71873253], [72058499, 72058651], [72076708, 72076829], [72241854, 72241980], [72400761, 72400994], [72748001, 72748171]] [[71873128, 71873253], [72058499, 72058651], [72076708, 72076829], [72241854, 72241980], [72400761, 72400994], [72748001, 72748171]]
ENST00000467479 [[72163628, 72163822], [72241854, 72241980], [72400761, 72400994], [72566427, 72566600]] None
ENST00000474357 [[71873174, 71873253], [71905408, 71905521]] None
ENST00000478526 [[72163618, 72163822], [72168864, 72169088]] None
NM_173808 [[71868624, 71873253], [72058499, 72058651], [72076708, 72076829], [72163690, 72163822], [72241854, 72241980], [72400761, 72400994], [72748001, 72748277]] [[71873128, 71873253], [72058499, 72058651], [72076708, 72076829], [72163690, 72163822], [72241854, 72241980], [72400761, 72400994], [72748001, 72748177]]
Promoter
Chrom Start End Description
chr1 72566627 72566642 CAGE_peak_10_at_NEGR1_5end
chr1 72748128 72748139 CAGE_peak_6_at_NEGR1_5end
chr1 72748140 72748229 CAGE_peak_1_at_NEGR1_5end
chr1 72748244 72748253 CAGE_peak_7_at_NEGR1_5end
chr1 72748492 72748510 CAGE_peak_5_at_NEGR1_5end
chr1 72748523 72748538 CAGE_peak_3_at_NEGR1_5end
chr1 72748551 72748570 CAGE_peak_4_at_NEGR1_5end
chr1 72748623 72748686 CAGE_peak_2_at_NEGR1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I072280 72280912 72287038 2.42 [{'connected_gene': 'NEGR1', 'score': 562.83}, {'connected_gene': 'LOC105378797', 'score': 550.77}, {'connected_gene': 'RPL31P12', 'score': 24.37}]
chr1 GH01I072220 72220803 72220938 0.22 [{'connected_gene': 'NEGR1', 'score': 1.62}, {'connected_gene': 'GC01P072172', 'score': 0.25}, {'connected_gene': 'GDI2P2', 'score': 0.23}]
chr1 GH01I072281 72280001 72280400 0.2 [{'connected_gene': 'RPL31P12', 'score': 7.78}, {'connected_gene': 'NEGR1', 'score': 0.77}, {'connected_gene': 'GDI2P2', 'score': 0.44}]
chr1 GH01I072121 72121880 72123108 0.31 [{'connected_gene': 'RPL31P12', 'score': 8.16}, {'connected_gene': 'GC01P072172', 'score': 0.23}, {'connected_gene': 'GC01M071959', 'score': 0.1}, {'connected_gene': 'NEGR1', 'score': 0.1}]
chr1 GH01I072034 72034562 72035411 0.38 [{'connected_gene': 'GC01M071959', 'score': 0.19}, {'connected_gene': 'GC01P072172', 'score': 0.12}, {'connected_gene': 'NEGR1', 'score': 0.07}]
chr1 GH01I071619 71619218 71619367 0.2 [{'connected_gene': 'ENSG00000231985', 'score': 10.92}, {'connected_gene': 'GC01M071606', 'score': 0.44}, {'connected_gene': 'GC01P071650', 'score': 0.29}, {'connected_gene': 'NEGR1', 'score': 0.03}]
chr1 GH01I071785 71785011 71786043 0.2 [{'connected_gene': 'GC01M071789', 'score': 0.44}, {'connected_gene': 'ENSG00000271618', 'score': 0.25}, {'connected_gene': 'NEGR1', 'score': 0.04}]
chr1 GH01I071617 71617986 71619174 0.2 [{'connected_gene': 'ENSG00000231985', 'score': 10.92}, {'connected_gene': 'GC01M071606', 'score': 0.44}, {'connected_gene': 'GC01P071650', 'score': 0.29}, {'connected_gene': 'NEGR1', 'score': 0.03}]
chr1 GH01I071649 71649407 71651081 0.2 [{'connected_gene': 'GC01P071650', 'score': 550.77}, {'connected_gene': 'GC01M071606', 'score': 0.28}, {'connected_gene': 'NEGR1', 'score': 0.03}]
chr1 GH01I071642 71642491 71642558 0.22 [{'connected_gene': 'GC01P071650', 'score': 0.44}, {'connected_gene': 'GC01M071606', 'score': 0.31}, {'connected_gene': 'NEGR1', 'score': 0.03}]
chr1 GH01I071690 71690173 71690505 0.22 [{'connected_gene': 'GC01P071650', 'score': 0.26}, {'connected_gene': 'ENSG00000271618', 'score': 0.25}, {'connected_gene': 'NEGR1', 'score': 0.03}]
chr1 GH01I072000 72000621 72001331 0.58 [{'connected_gene': 'GC01M071959', 'score': 0.28}, {'connected_gene': 'GC01P072172', 'score': 0.09}, {'connected_gene': 'NEGR1', 'score': 0.06}]
chr1 GH01I071640 71640198 71640347 0.2 [{'connected_gene': 'GC01P071650', 'score': 0.44}, {'connected_gene': 'GC01M071606', 'score': 0.31}, {'connected_gene': 'NEGR1', 'score': 0.03}]
chr1 GH01I071732 71732498 71732647 0.2 [{'connected_gene': 'ENSG00000271618', 'score': 0.44}, {'connected_gene': 'GC01P071650', 'score': 0.18}, {'connected_gene': 'NEGR1', 'score': 0.03}]
chr1 GH01I071621 71621798 71622320 0.31 [{'connected_gene': 'ENSG00000231985', 'score': 10.9}, {'connected_gene': 'GC01M071606', 'score': 0.44}, {'connected_gene': 'GC01P071650', 'score': 0.31}, {'connected_gene': 'NEGR1', 'score': 0.03}]
chr1 GH01I071705 71705618 71706851 0.38 [{'connected_gene': 'ENSG00000271618', 'score': 0.29}, {'connected_gene': 'GC01P071650', 'score': 0.22}, {'connected_gene': 'NEGR1', 'score': 0.03}]
chr1 GH01I071413 71413417 71414473 0.2 [{'connected_gene': 'GC01M071372', 'score': 0.26}, {'connected_gene': 'GC01P071485', 'score': 0.19}, {'connected_gene': 'ZRANB2-AS2', 'score': 0.06}, {'connected_gene': 'NEGR1', 'score': 0.03}]
chr1 GH01I071462 71462418 71462547 0.38 [{'connected_gene': 'ENSG00000269933', 'score': 5.09}, {'connected_gene': 'GC01P071485', 'score': 0.34}, {'connected_gene': 'GC01M071415', 'score': 0.28}, {'connected_gene': 'GC01M071372', 'score': 0.17}, {'connected_gene': 'ZRANB2-AS2', 'score': 0.05}, {'connected_gene': 'NEGR1', 'score': 0.03}]
chr1 GH01I071407 71407131 71407386 0.4 [{'connected_gene': 'GC01M071372', 'score': 0.29}, {'connected_gene': 'GC01P071485', 'score': 0.18}, {'connected_gene': 'ZRANB2-AS2', 'score': 0.05}, {'connected_gene': 'NEGR1', 'score': 0.02}]
chr1 GH01I071868 71868439 71868607 0.22 [{'connected_gene': 'GC01M071897', 'score': 0.29}, {'connected_gene': 'NEGR1-IT1', 'score': 0.29}, {'connected_gene': 'NEGR1', 'score': 0.05}]
chr1 GH01I071881 71881477 71882899 0.38 [{'connected_gene': 'GC01M071897', 'score': 0.37}, {'connected_gene': 'NEGR1-IT1', 'score': 0.25}, {'connected_gene': 'NEGR1', 'score': 0.05}]