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
ENST00000341893 [[101442768, 101443563], [101445437, 101445580], [101446226, 101446385], [101447679, 101447781], [101450683, 101450797], [101451331, 101451498], [101474273, 101474438], [101475906, 101476040], [101476477, 101477267], [101481328, 101481404], [101483690, 101489406]] [[101443520, 101443563], [101445437, 101445580], [101446226, 101446385], [101447679, 101447781], [101450683, 101450797], [101451331, 101451498], [101474273, 101474438], [101475906, 101476040], [101476477, 101477267], [101481328, 101481404], [101483690, 101484395]]
ENST00000489172 [[101443436, 101443563], [101445437, 101445580], [101446226, 101446385], [101450683, 101450797], [101451331, 101451498], [101474273, 101474438], [101475906, 101476040], [101476477, 101478356]] None
ENST00000327230 [[101443486, 101443563], [101445437, 101445580], [101446226, 101446385], [101447679, 101447781], [101450683, 101450797], [101451331, 101451498], [101474273, 101474438], [101475906, 101476040], [101476477, 101477267], [101481328, 101481404], [101481952, 101482030], [101483690, 101489405]] [[101443520, 101443563], [101445437, 101445580], [101446226, 101446385], [101447679, 101447781], [101450683, 101450797], [101451331, 101451498], [101474273, 101474438], [101475906, 101476040], [101476477, 101477267], [101481328, 101481404], [101481952, 101482030], [101483690, 101484395]]
ENST00000494050 [[101443498, 101443563], [101445437, 101445580], [101446226, 101446385], [101447679, 101447781], [101450683, 101450797], [101451331, 101451498], [101474273, 101474438], [101475906, 101476040], [101476654, 101477267], [101481328, 101481404], [101483690, 101484822]] [[101443520, 101443563], [101445437, 101445580], [101446226, 101446385], [101447679, 101447781], [101450683, 101450797], [101451331, 101451498], [101474273, 101474438], [101475906, 101476040], [101476654, 101477267], [101481328, 101481404], [101483690, 101484395]]
ENST00000465011 [[101443501, 101443563], [101445437, 101445580], [101446226, 101446385], [101447657, 101447781], [101450683, 101450797], [101451331, 101451498]] [[101443520, 101443563], [101445437, 101445580], [101446226, 101446385], [101447657, 101447699]]
ENST00000467655 [[101446313, 101446385], [101450683, 101450797], [101451331, 101451498], [101474273, 101474438], [101475916, 101476040], [101476477, 101477267], [101481328, 101481404], [101481952, 101482030], [101483690, 101483886]] [[101446313, 101446385], [101450683, 101450797], [101451331, 101451498], [101474273, 101474438], [101475916, 101475926]]
ENST00000462076 [[101451454, 101451498], [101474273, 101474322]] None
NM_001303401 [[101443436, 101443563], [101445437, 101445580], [101446226, 101446385], [101447679, 101447781], [101450683, 101450797], [101451331, 101451498], [101474273, 101474438], [101475906, 101476040], [101476654, 101477267], [101481328, 101481404], [101483690, 101489406]] [[101443520, 101443563], [101445437, 101445580], [101446226, 101446385], [101447679, 101447781], [101450683, 101450797], [101451331, 101451498], [101474273, 101474438], [101475906, 101476040], [101476654, 101477267], [101481328, 101481404], [101483690, 101484395]]
NM_024548 [[101443436, 101443563], [101445437, 101445580], [101446226, 101446385], [101447679, 101447781], [101450683, 101450797], [101451331, 101451498], [101474273, 101474438], [101475906, 101476040], [101476477, 101477267], [101481328, 101481404], [101483690, 101489406]] [[101443520, 101443563], [101445437, 101445580], [101446226, 101446385], [101447679, 101447781], [101450683, 101450797], [101451331, 101451498], [101474273, 101474438], [101475906, 101476040], [101476477, 101477267], [101481328, 101481404], [101483690, 101484395]]
Promoter
Chrom Start End Description
chr3 101443431 101443440 CAGE_peak_3_at_CEP97_5end
chr3 101443446 101443471 CAGE_peak_1_at_CEP97_5end
chr3 101443476 101443515 CAGE_peak_2_at_CEP97_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I101778 101778309 101781742 2.17 [{'connected_gene': 'NXPE3', 'score': 577.24}, {'connected_gene': 'CEP97', 'score': 11.22}, {'connected_gene': 'RPL24', 'score': 10.89}, {'connected_gene': 'SENP7', 'score': 5.53}, {'connected_gene': 'ENSG00000249474', 'score': 0.26}]
chr3 GH03I101767 101767337 101770404 0.31 [{'connected_gene': 'NXPE3', 'score': 19.91}, {'connected_gene': 'CEP97', 'score': 11.93}, {'connected_gene': 'RPL24', 'score': 10.99}, {'connected_gene': 'ABI3BP', 'score': 4.33}]
chr3 GH03I101800 101800871 101802192 0.46 [{'connected_gene': 'NXPE3', 'score': 11.96}, {'connected_gene': 'CEP97', 'score': 10.87}, {'connected_gene': 'RPL24', 'score': 10.86}, {'connected_gene': 'ENSG00000249474', 'score': 0.34}]
chr3 GH03I101793 101793883 101795110 0.2 [{'connected_gene': 'NXPE3', 'score': 19.03}, {'connected_gene': 'CEP97', 'score': 10.88}, {'connected_gene': 'RPL24', 'score': 10.87}, {'connected_gene': 'ENSG00000249474', 'score': 0.29}]
chr3 GH03I101327 101327242 101327421 0.26 [{'connected_gene': 'CEP97', 'score': 2.52}, {'connected_gene': 'SENP7', 'score': 1.84}, {'connected_gene': 'ZBTB11', 'score': 1.25}, {'connected_gene': 'GC03M101320', 'score': 0.44}, {'connected_gene': 'GC03M101322', 'score': 0.44}, {'connected_gene': 'ZNF90P1', 'score': 0.31}]
chr3 GH03I101795 101795601 101796636 0.2 [{'connected_gene': 'CEP97', 'score': 10.88}, {'connected_gene': 'RPL24', 'score': 10.87}, {'connected_gene': 'NXPE3', 'score': 0.37}, {'connected_gene': 'ENSG00000249474', 'score': 0.31}]
chr3 GH03I101141 101141657 101142249 0.74 [{'connected_gene': 'CEP97', 'score': 4.15}, {'connected_gene': 'ACTR3P3', 'score': 0.34}, {'connected_gene': 'GC03P101086', 'score': 0.22}]
chr3 GH03I101723 101723801 101726786 2.48 [{'connected_gene': 'CEP97', 'score': 554.72}, {'connected_gene': 'ZBTB11-AS1', 'score': 21.57}, {'connected_gene': 'NXPE3', 'score': 19.45}, {'connected_gene': 'ZNF90P1', 'score': 10.3}]
chr3 GH03I101674 101674894 101678546 2.07 [{'connected_gene': 'ZBTB11', 'score': 571.62}, {'connected_gene': 'ZBTB11-AS1', 'score': 556.05}, {'connected_gene': 'NXPE3', 'score': 18.06}, {'connected_gene': 'SENP7', 'score': 17.91}, {'connected_gene': 'CEP97', 'score': 14.78}]
chr3 GH03I101169 101169705 101171125 0.56 [{'connected_gene': 'RNU6-865P', 'score': 9.78}, {'connected_gene': 'CEP97', 'score': 7.23}, {'connected_gene': 'ACTR3P3', 'score': 0.44}, {'connected_gene': 'GC03P101264', 'score': 0.16}]
chr3 GH03I101720 101720639 101723000 0.99 [{'connected_gene': 'GC03P101720', 'score': 550.77}, {'connected_gene': 'GC03P101721', 'score': 550.77}, {'connected_gene': 'NXPE3', 'score': 29.62}, {'connected_gene': 'ZBTB11', 'score': 22.35}, {'connected_gene': 'ZBTB11-AS1', 'score': 15.44}, {'connected_gene': 'RPL24', 'score': 11.62}, {'connected_gene': 'CEP97', 'score': 0.77}]