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
ENST00000240285 [[74206846, 74207813], [74209428, 74209664], [74231330, 74231429], [74233166, 74233312], [74234913, 74235045], [74235147, 74237516]] [[74207524, 74207813], [74209428, 74209664], [74231330, 74231429], [74233166, 74233312], [74234913, 74235045], [74235147, 74235271]]
ENST00000518870 [[74207750, 74207813], [74209428, 74209975]] None
ENST00000521928 [[74208073, 74208117], [74209428, 74209664], [74231330, 74231429], [74233166, 74233223]] [[74209634, 74209664], [74231330, 74231429], [74233166, 74233223]]
ENST00000519380 [[74209250, 74209664], [74231330, 74231429], [74233166, 74233312], [74234913, 74235045], [74235147, 74235334]] [[74209634, 74209664], [74231330, 74231429], [74233166, 74233312], [74234913, 74235045], [74235147, 74235271]]
ENST00000521013 [[74234074, 74235045], [74235147, 74235543]] None
NM_172037 [[74206836, 74207813], [74209428, 74209664], [74231330, 74231429], [74233166, 74233312], [74234913, 74235045], [74235147, 74237520]] [[74207524, 74207813], [74209428, 74209664], [74231330, 74231429], [74233166, 74233312], [74234913, 74235045], [74235147, 74235271]]
Promoter
Chrom Start End Description
chr8 74206513 74206529 CAGE_peak_4_at_RDH10_5end
chr8 74206784 74206821 CAGE_peak_2_at_RDH10_5end
chr8 74206829 74206846 CAGE_peak_1_at_RDH10_5end
chr8 74206886 74206890 CAGE_peak_14_at_RDH10_5end
chr8 74207362 74207385 CAGE_peak_8_at_RDH10_5end
chr8 74207392 74207440 CAGE_peak_5_at_RDH10_5end
chr8 74209403 74209419 CAGE_peak_16_at_RDH10_5end
chr8 74209501 74209514 CAGE_peak_11_at_RDH10_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I073291 73291981 73297545 2.27 [{'connected_gene': 'RPL7', 'score': 565.54}, {'connected_gene': 'RDH10', 'score': 550.77}, {'connected_gene': 'RDH10-AS1', 'score': 10.29}]
chr8 GH08I073745 73745098 73748266 2.04 [{'connected_gene': 'STAU2', 'score': 550.77}, {'connected_gene': 'RDH10', 'score': 9.84}, {'connected_gene': 'GC08M073613', 'score': 0.37}, {'connected_gene': 'ENSG00000254538', 'score': 0.18}, {'connected_gene': 'ENSG00000258677', 'score': 0.12}]
chr8 GH08I073630 73630154 73633832 0.69 [{'connected_gene': 'RDH10', 'score': 19.47}, {'connected_gene': 'RPL7', 'score': 9.76}, {'connected_gene': 'VENTXP6', 'score': 0.37}, {'connected_gene': 'ENSG00000253383', 'score': 0.26}, {'connected_gene': 'STAU2', 'score': 0.13}, {'connected_gene': 'GC08M073613', 'score': 0.12}]
chr8 GH08I073504 73504401 73504800 1.04 [{'connected_gene': 'RDH10', 'score': 10.37}, {'connected_gene': 'RPL7', 'score': 10.37}, {'connected_gene': 'ENSG00000254273', 'score': 0.44}, {'connected_gene': 'GC08M073453', 'score': 0.26}, {'connected_gene': 'STAU2', 'score': 0.07}]
chr8 GH08I073340 73340635 73341835 0.98 [{'connected_gene': 'RDH10', 'score': 10.69}, {'connected_gene': 'RPL7', 'score': 10.69}, {'connected_gene': 'RDH10-AS1', 'score': 0.37}, {'connected_gene': 'GC08P073298', 'score': 0.26}]
chr8 GH08I073611 73611756 73613805 0.6 [{'connected_gene': 'RDH10', 'score': 9.79}, {'connected_gene': 'ENSG00000253383', 'score': 0.34}, {'connected_gene': 'VENTXP6', 'score': 0.28}, {'connected_gene': 'STAU2', 'score': 0.12}, {'connected_gene': 'GC08M073613', 'score': 0.11}]
chr8 GH08I073603 73603088 73603929 0.38 [{'connected_gene': 'RDH10', 'score': 7.65}, {'connected_gene': 'ENSG00000253383', 'score': 0.39}, {'connected_gene': 'VENTXP6', 'score': 0.25}, {'connected_gene': 'STAU2', 'score': 0.11}]
chr8 GH08I073585 73585139 73586895 0.4 [{'connected_gene': 'RDH10', 'score': 7.83}, {'connected_gene': 'ENSG00000253383', 'score': 0.77}, {'connected_gene': 'ENSG00000254273', 'score': 0.19}, {'connected_gene': 'STAU2', 'score': 0.1}]
chr8 GH08I073470 73470694 73471387 0.2 [{'connected_gene': 'RDH10', 'score': 4.69}, {'connected_gene': 'GC08M073453', 'score': 0.39}, {'connected_gene': 'ENSG00000254273', 'score': 0.26}, {'connected_gene': 'STAU2', 'score': 0.06}]
chr8 GH08I073490 73490891 73491678 0.67 [{'connected_gene': 'RDH10', 'score': 6.14}, {'connected_gene': 'ENSG00000254273', 'score': 0.34}, {'connected_gene': 'GC08M073453', 'score': 0.29}, {'connected_gene': 'STAU2', 'score': 0.07}]
chr8 GH08I073489 73489193 73490840 0.86 [{'connected_gene': 'RDH10', 'score': 6.14}, {'connected_gene': 'ENSG00000254273', 'score': 0.34}, {'connected_gene': 'GC08M073453', 'score': 0.31}, {'connected_gene': 'STAU2', 'score': 0.07}]
chr8 GH08I073482 73482462 73482572 0.2 [{'connected_gene': 'RDH10', 'score': 6.11}, {'connected_gene': 'GC08M073453', 'score': 0.34}, {'connected_gene': 'ENSG00000254273', 'score': 0.31}, {'connected_gene': 'STAU2', 'score': 0.06}]
chr8 GH08I073519 73519646 73521915 1.35 [{'connected_gene': 'RDH10', 'score': 9.97}, {'connected_gene': 'SBSPON', 'score': 1.5}, {'connected_gene': 'ENSG00000254273', 'score': 0.44}, {'connected_gene': 'ENSG00000253383', 'score': 0.2}, {'connected_gene': 'STAU2', 'score': 0.07}]
chr8 GH08I073315 73315566 73315735 0.66 [{'connected_gene': 'RDH10', 'score': 11.72}, {'connected_gene': 'ENSG00000253339', 'score': 11.22}, {'connected_gene': 'RDH10-AS1', 'score': 11.22}, {'connected_gene': 'GC08P073298', 'score': 0.37}]
chr8 GH08I073450 73450361 73452619 0.92 [{'connected_gene': 'RDH10', 'score': 5.33}, {'connected_gene': 'GC08M073453', 'score': 0.44}, {'connected_gene': 'STAU2-AS1', 'score': 0.29}, {'connected_gene': 'STAU2', 'score': 0.06}]
chr8 GH08I072994 72994066 72994295 0.38 [{'connected_gene': 'RNU6-285P', 'score': 12.06}, {'connected_gene': 'RDH10', 'score': 9.51}, {'connected_gene': 'RPL7', 'score': 9.51}, {'connected_gene': 'TERF1', 'score': 0.39}, {'connected_gene': 'ENSG00000260838', 'score': 0.25}]
chr8 GH08I073363 73363933 73365041 1.14 [{'connected_gene': 'LOC105375899', 'score': 6.36}, {'connected_gene': 'RDH10', 'score': 5.61}, {'connected_gene': 'SBSPON', 'score': 1.59}, {'connected_gene': 'ENSG00000253339', 'score': 0.44}]
chr8 GH08I073316 73316256 73319552 0.73 [{'connected_gene': 'RDH10-AS1', 'score': 19.57}, {'connected_gene': 'RDH10', 'score': 11.72}, {'connected_gene': 'RPL7', 'score': 11.72}, {'connected_gene': 'ENSG00000253339', 'score': 11.22}, {'connected_gene': 'GC08P073298', 'score': 0.37}]
chr8 GH08I073326 73326981 73327970 0.86 [{'connected_gene': 'RDH10-AS1', 'score': 12.57}, {'connected_gene': 'ENSG00000253339', 'score': 12.56}, {'connected_gene': 'RDH10', 'score': 11.48}, {'connected_gene': 'RPL7', 'score': 11.48}, {'connected_gene': 'GC08P073298', 'score': 0.31}]
chr8 GH08I073320 73320653 73322541 0.38 [{'connected_gene': 'RDH10-AS1', 'score': 23.77}, {'connected_gene': 'ENSG00000253339', 'score': 12.54}, {'connected_gene': 'RDH10', 'score': 11.5}, {'connected_gene': 'RPL7', 'score': 11.5}, {'connected_gene': 'GC08P073298', 'score': 0.34}]
chr8 GH08I073313 73313757 73315530 0.84 [{'connected_gene': 'RDH10-AS1', 'score': 21.89}, {'connected_gene': 'RDH10', 'score': 11.72}, {'connected_gene': 'ENSG00000253339', 'score': 11.22}, {'connected_gene': 'GC08P073298', 'score': 0.37}]
chr8 GH08I073306 73306192 73308375 0.92 [{'connected_gene': 'RDH10-AS1', 'score': 19.71}, {'connected_gene': 'ENSG00000253339', 'score': 10.69}, {'connected_gene': 'GC08P073298', 'score': 0.44}, {'connected_gene': 'RDH10', 'score': 0.39}]
chr8 GH08I073311 73311250 73313116 1.36 [{'connected_gene': 'RDH10-AS1', 'score': 18.86}, {'connected_gene': 'ENSG00000253339', 'score': 10.44}, {'connected_gene': 'GC08P073298', 'score': 0.39}, {'connected_gene': 'RDH10', 'score': 0.37}]
chr8 GH08I073301 73301591 73303150 0.31 [{'connected_gene': 'RDH10-AS1', 'score': 20.58}, {'connected_gene': 'ENSG00000253339', 'score': 10.61}, {'connected_gene': 'GC08P073298', 'score': 0.77}, {'connected_gene': 'RDH10', 'score': 0.44}]
chr8 GH08I073305 73305626 73305775 0.82 [{'connected_gene': 'RDH10-AS1', 'score': 19.03}, {'connected_gene': 'ENSG00000253339', 'score': 10.62}, {'connected_gene': 'GC08P073298', 'score': 0.44}, {'connected_gene': 'RDH10', 'score': 0.39}]
chr8 GH08I073300 73300014 73300981 0.43 [{'connected_gene': 'RDH10-AS1', 'score': 21.6}, {'connected_gene': 'ENSG00000253339', 'score': 10.61}, {'connected_gene': 'GC08P073298', 'score': 0.77}, {'connected_gene': 'RDH10', 'score': 0.44}]
chr8 GH08I073285 73285826 73286200 0.58 [{'connected_gene': 'C8orf89', 'score': 550.77}, {'connected_gene': 'RPL7', 'score': 10.71}, {'connected_gene': 'RDH10-AS1', 'score': 9.82}, {'connected_gene': 'RDH10', 'score': 0.44}]
chr8 GH08I073458 73458191 73462146 1.31 [{'connected_gene': 'GC08M073453', 'score': 550.77}, {'connected_gene': 'RDH10', 'score': 5.98}, {'connected_gene': 'JPH1', 'score': 4.76}, {'connected_gene': 'STAU2-AS1', 'score': 0.26}, {'connected_gene': 'STAU2', 'score': 0.06}]
chr8 GH08I073587 73587939 73589307 0.58 [{'connected_gene': 'ENSG00000253383', 'score': 550.77}, {'connected_gene': 'RDH10', 'score': 7.65}, {'connected_gene': 'ENSG00000254273', 'score': 0.18}, {'connected_gene': 'STAU2', 'score': 0.1}]
chr8 GH08I073309 73309726 73309875 0.63 [{'connected_gene': 'GC08P073298', 'score': 0.39}, {'connected_gene': 'RDH10', 'score': 0.37}, {'connected_gene': 'RDH10-AS1', 'score': 0.25}]
chr8 GH08I073330 73330746 73330895 0.74 [{'connected_gene': 'ENSG00000253339', 'score': 12.57}, {'connected_gene': 'RDH10-AS1', 'score': 12.57}, {'connected_gene': 'RDH10', 'score': 11.47}, {'connected_gene': 'RPL7', 'score': 11.47}, {'connected_gene': 'GC08P073298', 'score': 0.29}]
chr8 GH08I073462 73462418 73467374 0.2 [{'connected_gene': 'ENSG00000253339', 'score': 11.02}, {'connected_gene': 'RDH10-AS1', 'score': 11.02}, {'connected_gene': 'RDH10', 'score': 6.55}, {'connected_gene': 'JPH1', 'score': 4.75}, {'connected_gene': 'GC08M073453', 'score': 0.77}, {'connected_gene': 'ENSG00000254273', 'score': 0.25}, {'connected_gene': 'STAU2', 'score': 0.06}]
chr8 GH08I073469 73469406 73470665 0.31 [{'connected_gene': 'ENSG00000253339', 'score': 11.01}, {'connected_gene': 'RDH10-AS1', 'score': 11.01}, {'connected_gene': 'RDH10', 'score': 4.96}, {'connected_gene': 'GC08M073453', 'score': 0.44}, {'connected_gene': 'ENSG00000254273', 'score': 0.26}, {'connected_gene': 'STAU2', 'score': 0.06}]
chr8 GH08I073299 73299509 73299859 0.56 [{'connected_gene': 'GC08P073298', 'score': 550.77}, {'connected_gene': 'RDH10-AS1', 'score': 21.58}, {'connected_gene': 'ENSG00000253339', 'score': 10.61}, {'connected_gene': 'RDH10', 'score': 0.44}]