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
ENST00000424155 [[79603486, 79603759], [79606098, 79606347], [79703741, 79704334]] [[79603591, 79603759], [79606098, 79606347], [79703741, 79703846]]
ENST00000299705 [[79603403, 79603759], [79606098, 79606347], [79614319, 79615189]] [[79603591, 79603759], [79606098, 79606347], [79614319, 79614556]]
ENST00000536821 [[79603497, 79603759], [79606098, 79606347], [79675309, 79675802]] [[79603591, 79603759], [79606098, 79606347], [79675309, 79675360]]
ENST00000543455 [[79603500, 79603759], [79606098, 79606347], [79606882, 79606997], [79614319, 79615179]] [[79603591, 79603759], [79606098, 79606347], [79606882, 79606906]]
ENST00000558562 [[79608272, 79608365], [79614319, 79615164]] None
NM_001330376 [[79603403, 79603759], [79606098, 79606347], [79703741, 79706228]] [[79603591, 79603759], [79606098, 79606347], [79703741, 79703846]]
NM_007364 [[79603403, 79603759], [79606098, 79606347], [79614319, 79615189]] [[79603591, 79603759], [79606098, 79606347], [79614319, 79614556]]
NR_125394 [[79603403, 79603759], [79606098, 79606347], [79606882, 79606997], [79614319, 79615189]] None
NM_001301203 [[79603403, 79603759], [79606098, 79606347], [79675309, 79677063]] [[79603591, 79603759], [79606098, 79606347], [79675309, 79675360]]
Promoter
Chrom Start End Description
chr15 79603426 79603475 CAGE_peak_2_at_TMED3_5end
chr15 79603479 79603529 CAGE_peak_1_at_TMED3_5end
chr15 79603543 79603577 CAGE_peak_3_at_TMED3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I078969 78969542 78971252 0.96 [{'connected_gene': 'RASGRF1', 'score': 9.59}, {'connected_gene': 'TMED3', 'score': 5.47}, {'connected_gene': 'LOC100129540', 'score': 0.44}, {'connected_gene': 'GC15M078960', 'score': 0.44}]
chr15 GH15I079314 79314939 79315088 0.74 [{'connected_gene': 'ANKRD34C', 'score': 10.86}, {'connected_gene': 'TMED3', 'score': 0.77}, {'connected_gene': 'GC15P079414', 'score': 0.15}]
chr15 GH15I079310 79310539 79312584 1.96 [{'connected_gene': 'TMED3', 'score': 550.77}, {'connected_gene': 'KIAA1024', 'score': 5.62}, {'connected_gene': 'GC15P079414', 'score': 0.15}]
chr15 GH15I079333 79333239 79333388 0.56 [{'connected_gene': 'TMED3', 'score': 0.34}, {'connected_gene': 'GC15P079414', 'score': 0.18}]
chr15 GH15I079377 79377464 79377576 0.22 [{'connected_gene': 'KIAA1024', 'score': 10.66}, {'connected_gene': 'GC15P079414', 'score': 0.28}, {'connected_gene': 'TMED3', 'score': 0.2}]
chr15 GH15I079328 79328512 79329874 0.89 [{'connected_gene': 'KIAA1024', 'score': 10.04}, {'connected_gene': 'TMED3', 'score': 0.37}, {'connected_gene': 'GC15P079414', 'score': 0.18}]
chr15 GH15I079381 79381159 79381308 0.64 [{'connected_gene': 'KIAA1024', 'score': 10.68}, {'connected_gene': 'GC15P079414', 'score': 0.29}, {'connected_gene': 'TMED3', 'score': 0.19}]
chr15 GH15I079374 79373799 79373948 0.2 [{'connected_gene': 'KIAA1024', 'score': 11.24}, {'connected_gene': 'RNU6-667P', 'score': 9.94}, {'connected_gene': 'GC15P079414', 'score': 0.28}, {'connected_gene': 'TMED3', 'score': 0.21}]
chr15 GH15I079370 79370819 79371048 0.54 [{'connected_gene': 'KIAA1024', 'score': 17.68}, {'connected_gene': 'RNU6-667P', 'score': 9.94}, {'connected_gene': 'TMED3', 'score': 5.06}, {'connected_gene': 'GC15P079414', 'score': 0.26}]
chr15 GH15I079364 79364457 79366775 0.38 [{'connected_gene': 'KIAA1024', 'score': 10.49}, {'connected_gene': 'RNU6-667P', 'score': 9.65}, {'connected_gene': 'TMED3', 'score': 5.21}, {'connected_gene': 'GC15P079414', 'score': 0.25}]
chr15 GH15I079372 79372139 79372288 0.2 [{'connected_gene': 'KIAA1024', 'score': 11.22}, {'connected_gene': 'RNU6-667P', 'score': 9.94}, {'connected_gene': 'GC15P079414', 'score': 0.26}, {'connected_gene': 'TMED3', 'score': 0.21}]
chr15 GH15I079373 79372499 79372648 0.31 [{'connected_gene': 'KIAA1024', 'score': 11.22}, {'connected_gene': 'RNU6-667P', 'score': 9.94}, {'connected_gene': 'TMED3', 'score': 5.01}, {'connected_gene': 'GC15P079414', 'score': 0.26}]
chr15 GH15I079322 79322207 79324014 0.38 [{'connected_gene': 'CTSH', 'score': 5.39}, {'connected_gene': 'TMED3', 'score': 0.39}, {'connected_gene': 'GC15P079414', 'score': 0.16}]
chr15 GH15I079987 79987019 79991000 1.34 [{'connected_gene': 'ENSG00000279719', 'score': 550.77}, {'connected_gene': 'BCL2A1', 'score': 14.18}, {'connected_gene': 'RNU6-667P', 'score': 9.79}, {'connected_gene': 'ST20', 'score': 5.79}, {'connected_gene': 'TMED3', 'score': 4.45}, {'connected_gene': 'ZFAND6', 'score': 3.38}, {'connected_gene': 'LOC100420205', 'score': 0.77}]