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
ENST00000560386 [[35509545, 35512783], [35665721, 35665809], [35674022, 35674117], [35703035, 35703052]] None
ENST00000558973 [[35623001, 35623278], [35665721, 35665809], [35674022, 35674117], [35703035, 35703059]] None
ENST00000256538 [[35663082, 35664404], [35665721, 35665809], [35674022, 35674117], [35703035, 35703097], [35742885, 35743004], [35746947, 35747021], [35830474, 35830668], [35834613, 35834708], [35838319, 35838369]] [[35664350, 35664404], [35665721, 35665809], [35674022, 35674117], [35703035, 35703097], [35742885, 35743004], [35746947, 35747021], [35830474, 35830668], [35834613, 35834708], [35838319, 35838342]]
ENST00000561411 [[35674032, 35674117], [35703035, 35703097], [35742885, 35743004], [35746947, 35747021], [35830474, 35830668], [35838319, 35838366]] [[35674032, 35674117], [35703035, 35703097], [35742885, 35743004], [35746947, 35747021], [35830474, 35830642]]
ENST00000559784 [[35674035, 35674117], [35703035, 35703097], [35746947, 35747021], [35830474, 35830668], [35834613, 35834692]] None
ENST00000559585 [[35782169, 35782398], [35830474, 35830668], [35834613, 35834708], [35838319, 35838354]] None
ENST00000558266 [[35664307, 35664394], [35665721, 35665809], [35674022, 35674117], [35703035, 35703097], [35742885, 35743004], [35746947, 35746961]] [[35664307, 35664394], [35665721, 35665809], [35674022, 35674117], [35703035, 35703097], [35742885, 35743004], [35746947, 35746961]]
ENST00000440392 [[35812473, 35814479], [35830474, 35830668], [35834613, 35834708], [35838319, 35838393]] [[35814293, 35814479], [35830474, 35830668], [35834613, 35834708], [35838319, 35838342]]
ENST00000560526 [[35830282, 35830668], [35834613, 35834708], [35838319, 35838394]] None
NM_080650 [[35663169, 35664404], [35665721, 35665809], [35674022, 35674117], [35703035, 35703097], [35742885, 35743004], [35746947, 35747021], [35830474, 35830668], [35834613, 35834708], [35838319, 35838404]] [[35664350, 35664404], [35665721, 35665809], [35674022, 35674117], [35703035, 35703097], [35742885, 35743004], [35746947, 35747021], [35830474, 35830668], [35834613, 35834708], [35838319, 35838342]]
NM_001141972 [[35812473, 35814479], [35830474, 35830668], [35834613, 35834708], [35838319, 35838404]] [[35814293, 35814479], [35830474, 35830668], [35834613, 35834708], [35838319, 35838342]]
Promoter
Chrom Start End Description
chr15 35838348 35838399 CAGE_peak_1_at_ATPBD4_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I035690 35690052 35694280 0.96 [{'connected_gene': 'AQR', 'score': 11.24}, {'connected_gene': 'DPH6-AS1', 'score': 10.76}, {'connected_gene': 'DPH6', 'score': 10.76}, {'connected_gene': 'RPL36AP8', 'score': 10.23}, {'connected_gene': 'GC15P035699', 'score': 0.44}, {'connected_gene': 'PIR55827', 'score': 0.29}]
chr15 GH15I035140 35140792 35143713 0.89 [{'connected_gene': 'DPH6', 'score': 5.29}, {'connected_gene': 'LOC441722', 'score': 4.57}, {'connected_gene': 'PIR59365', 'score': 0.37}, {'connected_gene': 'ENSG00000259336', 'score': 0.31}]
chr15 GH15I035534 35534874 35536541 0.2 [{'connected_gene': 'DPH6', 'score': 6.13}, {'connected_gene': 'DPH6-AS1', 'score': 0.39}, {'connected_gene': 'HNRNPA1P45', 'score': 0.12}]
chr15 GH15I035491 35491892 35493160 0.2 [{'connected_gene': 'DPH6', 'score': 4.77}, {'connected_gene': 'DPH6-AS1', 'score': 0.23}, {'connected_gene': 'HNRNPA1P45', 'score': 0.16}]
chr15 GH15I035427 35427016 35427656 0.2 [{'connected_gene': 'DPH6', 'score': 6.77}, {'connected_gene': 'HNRNPA1P45', 'score': 0.31}, {'connected_gene': 'DPH6-AS1', 'score': 0.13}]
chr15 GH15I035544 35544625 35550640 2.25 [{'connected_gene': 'DPH6-AS1', 'score': 550.77}, {'connected_gene': 'DPH6', 'score': 550.77}, {'connected_gene': 'AQR', 'score': 29.32}, {'connected_gene': 'GC15P035618', 'score': 0.19}]
chr15 GH15I035477 35477908 35478156 0.66 [{'connected_gene': 'DPH6-AS1', 'score': 0.2}, {'connected_gene': 'DPH6', 'score': 0.2}, {'connected_gene': 'HNRNPA1P45', 'score': 0.18}]
chr15 GH15I035496 35496553 35496805 0.61 [{'connected_gene': 'DPH6-AS1', 'score': 0.25}, {'connected_gene': 'DPH6', 'score': 0.25}, {'connected_gene': 'HNRNPA1P45', 'score': 0.15}]
chr15 GH15I035541 35541080 35541229 0.38 [{'connected_gene': 'DPH6-AS1', 'score': 0.44}, {'connected_gene': 'DPH6', 'score': 0.44}, {'connected_gene': 'HNRNPA1P45', 'score': 0.11}]
chr15 GH15I035522 35522060 35522209 0.49 [{'connected_gene': 'DPH6-AS1', 'score': 11.02}, {'connected_gene': 'DPH6', 'score': 11.02}, {'connected_gene': 'HNRNPA1P45', 'score': 0.13}]
chr15 GH15I035481 35481833 35482495 0.66 [{'connected_gene': 'DPH6-AS1', 'score': 0.21}, {'connected_gene': 'DPH6', 'score': 0.21}, {'connected_gene': 'HNRNPA1P45', 'score': 0.18}]
chr15 GH15I035556 35556728 35558308 1.14 [{'connected_gene': 'DPH6-AS1', 'score': 0.39}, {'connected_gene': 'DPH6', 'score': 0.39}, {'connected_gene': 'GC15P035618', 'score': 0.21}]
chr15 GH15I035565 35565763 35566121 0.4 [{'connected_gene': 'DPH6-AS1', 'score': 0.37}, {'connected_gene': 'DPH6', 'score': 0.37}, {'connected_gene': 'GC15P035618', 'score': 0.23}]
chr15 GH15I035559 35559453 35563353 0.64 [{'connected_gene': 'DPH6-AS1', 'score': 0.37}, {'connected_gene': 'DPH6', 'score': 0.37}, {'connected_gene': 'GC15P035618', 'score': 0.22}]
chr15 GH15I035381 35381442 35381663 0.58 [{'connected_gene': 'MIR3942', 'score': 0.44}, {'connected_gene': 'ENSG00000259688', 'score': 0.39}, {'connected_gene': 'DPH6', 'score': 0.1}]
chr15 GH15I035361 35361944 35363041 0.31 [{'connected_gene': 'MIR3942', 'score': 0.44}, {'connected_gene': 'RBM17P4', 'score': 0.21}, {'connected_gene': 'DPH6', 'score': 0.09}]
chr15 GH15I035246 35246198 35246875 0.2 [{'connected_gene': 'NUTF2P6', 'score': 0.28}, {'connected_gene': 'ANP32AP1', 'score': 0.21}, {'connected_gene': 'DPH6', 'score': 0.06}]
chr15 GH15I035253 35253121 35254645 0.71 [{'connected_gene': 'NUTF2P6', 'score': 0.31}, {'connected_gene': 'ANP32AP1', 'score': 0.19}, {'connected_gene': 'DPH6', 'score': 0.06}]
chr15 GH15I035245 35245780 35245929 0.2 [{'connected_gene': 'NUTF2P6', 'score': 0.28}, {'connected_gene': 'ANP32AP1', 'score': 0.21}, {'connected_gene': 'DPH6', 'score': 0.06}]
chr15 GH15I035436 35436723 35437875 0.31 [{'connected_gene': 'HNRNPA1P45', 'score': 0.28}, {'connected_gene': 'DPH6-AS1', 'score': 0.14}, {'connected_gene': 'DPH6', 'score': 0.14}]
chr15 GH15I035437 35436540 35436689 0.2 [{'connected_gene': 'HNRNPA1P45', 'score': 0.28}, {'connected_gene': 'DPH6-AS1', 'score': 0.14}, {'connected_gene': 'DPH6', 'score': 0.14}]
chr15 GH15I035438 35438900 35439919 0.31 [{'connected_gene': 'HNRNPA1P45', 'score': 0.28}, {'connected_gene': 'DPH6-AS1', 'score': 0.14}, {'connected_gene': 'DPH6', 'score': 0.14}]
chr15 GH15I035302 35302258 35302730 0.51 [{'connected_gene': 'RBM17P4', 'score': 0.77}, {'connected_gene': 'MIR3942', 'score': 0.2}, {'connected_gene': 'DPH6', 'score': 0.07}]
chr15 GH15I035311 35311720 35311869 0.31 [{'connected_gene': 'RBM17P4', 'score': 0.39}, {'connected_gene': 'MIR3942', 'score': 0.21}, {'connected_gene': 'DPH6', 'score': 0.07}]
chr15 GH15I035304 35304817 35310390 1.34 [{'connected_gene': 'RBM17P4', 'score': 4.98}, {'connected_gene': 'MIR3942', 'score': 0.21}, {'connected_gene': 'DPH6', 'score': 0.07}]
chr15 GH15I035696 35696118 35699945 1.26 [{'connected_gene': 'GC15P035699', 'score': 550.77}, {'connected_gene': 'DPH6-AS1', 'score': 10.75}, {'connected_gene': 'DPH6', 'score': 10.75}, {'connected_gene': 'PIR55827', 'score': 0.28}]
chr15 GH15I035293 35293400 35293801 1 [{'connected_gene': 'GC15M035300', 'score': 0.44}, {'connected_gene': 'PIR40873', 'score': 0.44}, {'connected_gene': 'NUTF2P6', 'score': 0.39}, {'connected_gene': 'DPH6', 'score': 0.07}]
chr15 GH15I035290 35290362 35290683 0.58 [{'connected_gene': 'GC15M035300', 'score': 0.44}, {'connected_gene': 'NUTF2P6', 'score': 0.44}, {'connected_gene': 'PIR40873', 'score': 0.44}, {'connected_gene': 'DPH6', 'score': 0.07}]