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
ENST00000263379 [[14142559, 14142784], [14143197, 14143315], [14150319, 14150477], [14150564, 14150722], [14153264, 14153424], [14153527, 14153601], [14156965, 14157149], [14157241, 14157430], [14159792, 14159894], [14159967, 14160126], [14161569, 14161695], [14162418, 14162512], [14162691, 14162785], [14162907, 14163743]] [[14142684, 14142784], [14143197, 14143315], [14150319, 14150477], [14150564, 14150722], [14153264, 14153424], [14153527, 14153601], [14156965, 14157149], [14157241, 14157430], [14159792, 14159894], [14159967, 14160126], [14161569, 14161695], [14162418, 14162512], [14162691, 14162785], [14162907, 14163102]]
NM_004843 [[14142551, 14142784], [14143197, 14143315], [14150319, 14150477], [14150564, 14150722], [14153264, 14153424], [14153527, 14153601], [14156965, 14157149], [14157241, 14157430], [14159792, 14159894], [14159967, 14160126], [14161569, 14161695], [14162418, 14162512], [14162691, 14162785], [14162907, 14163731]] [[14142684, 14142784], [14143197, 14143315], [14150319, 14150477], [14150564, 14150722], [14153264, 14153424], [14153527, 14153601], [14156965, 14157149], [14157241, 14157430], [14159792, 14159894], [14159967, 14160126], [14161569, 14161695], [14162418, 14162512], [14162691, 14162785], [14162907, 14163102]]
Promoter
Chrom Start End Description
chr19 14142535 14142556 CAGE_peak_2_at_IL27RA_5end
chr19 14142565 14142628 CAGE_peak_1_at_IL27RA_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I014378 14378751 14386401 2.53 [{'connected_gene': 'ADGRE5', 'score': 564.18}, {'connected_gene': 'CCDC130', 'score': 85.14}, {'connected_gene': 'AKAP8', 'score': 79.38}, {'connected_gene': 'MRI1', 'score': 61.03}, {'connected_gene': 'ZNF333', 'score': 40.86}, {'connected_gene': 'BRD4', 'score': 39.37}, {'connected_gene': 'DDX39A', 'score': 35.93}, {'connected_gene': 'DCAF15', 'score': 17.82}, {'connected_gene': 'RFX1', 'score': 17.71}, {'connected_gene': 'LOC284454', 'score': 14.2}, {'connected_gene': 'SYDE1', 'score': 9.86}, {'connected_gene': 'PKN1', 'score': 3.21}, {'connected_gene': 'IL27RA', 'score': 2.91}, {'connected_gene': 'DNAJB1', 'score': 2.58}, {'connected_gene': 'ENSG00000267379', 'score': 0.31}]
chr19 GH19I014512 14512509 14524550 2.6 [{'connected_gene': 'TECR', 'score': 566.76}, {'connected_gene': 'DNAJB1', 'score': 562.9}, {'connected_gene': 'NOTCH3', 'score': 13.11}, {'connected_gene': 'SYDE1', 'score': 12.3}, {'connected_gene': 'AKAP8', 'score': 11.92}, {'connected_gene': 'SNRPGP15', 'score': 11.87}, {'connected_gene': 'BRD4', 'score': 11.33}, {'connected_gene': 'ENSG00000273218', 'score': 9.72}, {'connected_gene': 'GIPC1', 'score': 6.04}, {'connected_gene': 'IL27RA', 'score': 5.35}, {'connected_gene': 'ADGRE5', 'score': 4.79}, {'connected_gene': 'PKN1', 'score': 3.86}, {'connected_gene': 'DDX39A', 'score': 1.58}, {'connected_gene': 'GC19P014515', 'score': 0.77}, {'connected_gene': 'PIR54842', 'score': 0.44}]
chr19 GH19I013982 13982892 13989384 1.53 [{'connected_gene': 'IL27RA', 'score': 10.97}, {'connected_gene': 'RFX1', 'score': 8.85}, {'connected_gene': 'CCDC130', 'score': 8.13}, {'connected_gene': 'PKN1', 'score': 7.46}, {'connected_gene': 'DDX39A', 'score': 5.4}, {'connected_gene': 'DCAF15', 'score': 4.6}, {'connected_gene': 'ADGRE5', 'score': 3.9}, {'connected_gene': 'ENSG00000275091', 'score': 0.34}, {'connected_gene': 'PODNL1', 'score': 0.29}]
chr19 GH19I014017 14017727 14018569 0.52 [{'connected_gene': 'IL27RA', 'score': 15.59}, {'connected_gene': 'RFX1', 'score': 0.39}, {'connected_gene': 'RLN3', 'score': 0.39}]
chr19 GH19I014042 14042244 14043788 1.06 [{'connected_gene': 'IL27RA', 'score': 17.61}, {'connected_gene': 'PALM3', 'score': 0.37}]
chr19 GH19I014041 14041261 14041951 0.62 [{'connected_gene': 'IL27RA', 'score': 15.33}, {'connected_gene': 'PALM3', 'score': 0.34}]
chr19 GH19I014024 14024643 14026843 0.79 [{'connected_gene': 'IL27RA', 'score': 13.1}, {'connected_gene': 'RLN3', 'score': 0.77}, {'connected_gene': 'RFX1', 'score': 0.37}]
chr19 GH19I014023 14023089 14024400 1.29 [{'connected_gene': 'IL27RA', 'score': 14.01}, {'connected_gene': 'RLN3', 'score': 0.77}, {'connected_gene': 'RFX1', 'score': 0.37}]
chr19 GH19I014030 14030585 14033553 2 [{'connected_gene': 'IL27RA', 'score': 569.09}, {'connected_gene': 'ENSG00000267670', 'score': 550.77}, {'connected_gene': 'SNRPGP15', 'score': 9.84}, {'connected_gene': 'RLN3', 'score': 0.77}, {'connected_gene': 'PALM3', 'score': 0.29}]
chr19 GH19I014000 14000593 14007606 2.63 [{'connected_gene': 'RFX1', 'score': 593.27}, {'connected_gene': 'CCDC130', 'score': 72.03}, {'connected_gene': 'TRMT1', 'score': 41.86}, {'connected_gene': 'DDX39A', 'score': 38.27}, {'connected_gene': 'DCAF15', 'score': 35.74}, {'connected_gene': 'ZNF333', 'score': 30.73}, {'connected_gene': 'MRI1', 'score': 18.13}, {'connected_gene': 'LOC284454', 'score': 14.27}, {'connected_gene': 'TECR', 'score': 10.68}, {'connected_gene': 'PKN1', 'score': 4.85}, {'connected_gene': 'ADGRE5', 'score': 3.11}, {'connected_gene': 'ZSWIM4', 'score': 2.38}, {'connected_gene': 'IL27RA', 'score': 1.66}, {'connected_gene': 'ENSG00000275091', 'score': 0.77}, {'connected_gene': 'PODNL1', 'score': 0.23}]
chr19 GH19I014015 14015017 14016170 1.23 [{'connected_gene': 'PKN1', 'score': 5.25}, {'connected_gene': 'NANOS3', 'score': 1.82}, {'connected_gene': 'IL27RA', 'score': 1.57}, {'connected_gene': 'RFX1', 'score': 0.44}, {'connected_gene': 'RLN3', 'score': 0.39}]
chr19 GH19I014111 14111465 14120803 2.59 [{'connected_gene': 'PRKACA', 'score': 567.43}, {'connected_gene': 'DDX39A', 'score': 17.14}, {'connected_gene': 'DCAF15', 'score': 14.58}, {'connected_gene': 'LOC284454', 'score': 14.23}, {'connected_gene': 'RFX1', 'score': 13.72}, {'connected_gene': 'CCDC130', 'score': 7.21}, {'connected_gene': 'ADGRE5', 'score': 6.38}, {'connected_gene': 'PALM3', 'score': 6.06}, {'connected_gene': 'DNAJB1', 'score': 5.95}, {'connected_gene': 'PKN1', 'score': 5.8}, {'connected_gene': 'IL27RA', 'score': 3.41}, {'connected_gene': 'ZSWIM4', 'score': 3.01}, {'connected_gene': 'PIR49003', 'score': 0.77}, {'connected_gene': 'ENSG00000267783', 'score': 0.77}, {'connected_gene': 'GC19M014124', 'score': 0.77}, {'connected_gene': 'GC19M014096', 'score': 0.37}, {'connected_gene': 'ASF1B', 'score': 0.34}]
chr19 GH19I013884 13884668 13887949 1.17 [{'connected_gene': 'CC2D1A', 'score': 22.82}, {'connected_gene': 'C19orf57', 'score': 13.13}, {'connected_gene': 'PALM3', 'score': 12.96}, {'connected_gene': 'EEF1DP1', 'score': 12.8}, {'connected_gene': 'MISP3', 'score': 12.79}, {'connected_gene': 'IL27RA', 'score': 2.14}, {'connected_gene': 'CCDC130', 'score': 1.37}, {'connected_gene': 'DCAF15', 'score': 1.34}, {'connected_gene': 'GC19P013876', 'score': 0.39}]
chr19 GH19I014056 14056849 14056998 0.59 [{'connected_gene': 'PALM3', 'score': 0.44}, {'connected_gene': 'IL27RA', 'score': 0.31}]
chr19 GH19I014048 14048649 14048858 0.72 [{'connected_gene': 'PALM3', 'score': 0.39}, {'connected_gene': 'IL27RA', 'score': 0.37}]
chr19 GH19I014057 14057030 14057818 1.28 [{'connected_gene': 'PALM3', 'score': 5.36}, {'connected_gene': 'IL27RA', 'score': 0.31}]
chr19 GH19I014059 14059051 14062737 1.65 [{'connected_gene': 'PALM3', 'score': 610.91}, {'connected_gene': 'PRKACA', 'score': 7.88}, {'connected_gene': 'IL27RA', 'score': 0.31}]
chr19 GH19I013860 13860585 13863183 2.08 [{'connected_gene': 'NANOS3', 'score': 550.77}, {'connected_gene': 'SNRPGP15', 'score': 9.82}, {'connected_gene': 'CCDC130', 'score': 7.47}, {'connected_gene': 'ZSWIM4', 'score': 5.39}, {'connected_gene': 'RFX1', 'score': 5.03}, {'connected_gene': 'DCAF15', 'score': 4.67}, {'connected_gene': 'IL27RA', 'score': 2.52}, {'connected_gene': 'PRKACA', 'score': 1.37}, {'connected_gene': 'GC19M013921', 'score': 0.37}]
chr19 GH19I014502 14502150 14508912 1.69 [{'connected_gene': 'DNAJB1', 'score': 11.84}, {'connected_gene': 'ENSG00000268189', 'score': 9.66}, {'connected_gene': 'GIPC1', 'score': 8.78}, {'connected_gene': 'PKN1', 'score': 5.91}, {'connected_gene': 'ADGRE5', 'score': 4.84}, {'connected_gene': 'TECR', 'score': 4.83}, {'connected_gene': 'SNRPGP15', 'score': 4.79}, {'connected_gene': 'IL27RA', 'score': 3.83}, {'connected_gene': 'DDX39A', 'score': 1.4}, {'connected_gene': 'GC19P014515', 'score': 0.44}]
chr19 GH19I014354 14354985 14357113 1.47 [{'connected_gene': 'ADGRE2', 'score': 17.95}, {'connected_gene': 'ADGRE5', 'score': 11.31}, {'connected_gene': 'SNRPGP15', 'score': 9.91}, {'connected_gene': 'DNAJB1', 'score': 9.11}, {'connected_gene': 'LINC01842', 'score': 6.85}, {'connected_gene': 'ZNF333', 'score': 4.3}, {'connected_gene': 'PKN1', 'score': 3.85}, {'connected_gene': 'DCAF15', 'score': 3.04}, {'connected_gene': 'RFX1', 'score': 2.58}, {'connected_gene': 'DDX39A', 'score': 2.51}, {'connected_gene': 'IL27RA', 'score': 1.95}, {'connected_gene': 'LINC01841', 'score': 0.39}]
chr19 GH19I014365 14365418 14376806 1.68 [{'connected_gene': 'LINC01841', 'score': 550.77}, {'connected_gene': 'ADGRE5', 'score': 13.88}, {'connected_gene': 'PKN1', 'score': 7.22}, {'connected_gene': 'TECR', 'score': 5.79}, {'connected_gene': 'DDX39A', 'score': 5.55}, {'connected_gene': 'ZNF333', 'score': 3.81}, {'connected_gene': 'DCAF15', 'score': 3.52}, {'connected_gene': 'IL27RA', 'score': 3.4}, {'connected_gene': 'DNAJB1', 'score': 3.03}, {'connected_gene': 'RFX1', 'score': 2.58}]
chr19 GH19I014389 14389168 14389390 0.43 [{'connected_gene': 'DDX39A', 'score': 12.48}, {'connected_gene': 'OR7A17', 'score': 4.55}, {'connected_gene': 'ADGRE5', 'score': 3.9}, {'connected_gene': 'PKN1', 'score': 2.75}, {'connected_gene': 'RFX1', 'score': 2.19}, {'connected_gene': 'ZNF333', 'score': 1.94}, {'connected_gene': 'IL27RA', 'score': 1.62}, {'connected_gene': 'DCAF15', 'score': 1.18}, {'connected_gene': 'ENSG00000267379', 'score': 0.37}]
chr19 GH19I014415 14415308 14420536 2.56 [{'connected_gene': 'DDX39A', 'score': 579.09}, {'connected_gene': 'AKAP8', 'score': 39.49}, {'connected_gene': 'BRD4', 'score': 33.14}, {'connected_gene': 'DCAF15', 'score': 24.58}, {'connected_gene': 'RFX1', 'score': 22.4}, {'connected_gene': 'CCDC130', 'score': 19.14}, {'connected_gene': 'GIPC1', 'score': 12.39}, {'connected_gene': 'ADGRE2', 'score': 11.69}, {'connected_gene': 'ZNF333', 'score': 9.67}, {'connected_gene': 'DNAJB1', 'score': 8.23}, {'connected_gene': 'PKN1', 'score': 2.57}, {'connected_gene': 'IL27RA', 'score': 2.37}, {'connected_gene': 'ADGRE5', 'score': 2.08}, {'connected_gene': 'ENSG00000267379', 'score': 0.44}]
chr19 GH19I013833 13833001 13856144 2.16 [{'connected_gene': 'GC19M013921', 'score': 550.77}, {'connected_gene': 'CCDC130', 'score': 50.07}, {'connected_gene': 'ZNF333', 'score': 30.86}, {'connected_gene': 'MRI1', 'score': 29.01}, {'connected_gene': 'DDX39A', 'score': 22.14}, {'connected_gene': 'TRMT1', 'score': 18.66}, {'connected_gene': 'RFX1', 'score': 15.65}, {'connected_gene': 'DCAF15', 'score': 15.32}, {'connected_gene': 'C19orf53', 'score': 11.68}, {'connected_gene': 'RPS6P25', 'score': 10.98}, {'connected_gene': 'SYCE2', 'score': 9.7}, {'connected_gene': 'ZSWIM4', 'score': 3.31}, {'connected_gene': 'PRKACA', 'score': 1.72}, {'connected_gene': 'IL27RA', 'score': 1.69}, {'connected_gene': 'GC19M013916', 'score': 0.44}, {'connected_gene': 'GC19M013915', 'score': 0.44}, {'connected_gene': 'MIR27A', 'score': 0.44}, {'connected_gene': 'GC19M013874', 'score': 0.44}, {'connected_gene': 'GC19M013919', 'score': 0.44}, {'connected_gene': 'MIR23A', 'score': 0.44}, {'connected_gene': 'LOC284454', 'score': 0.44}, {'connected_gene': 'MIR24-2', 'score': 0.44}, {'connected_gene': 'NANOS3', 'score': 0.37}]
chr19 GH19I014459 14459289 14460248 0.45 [{'connected_gene': 'ENSG00000267474', 'score': 550.77}, {'connected_gene': 'OR7C2', 'score': 4.94}, {'connected_gene': 'DDX39A', 'score': 1.94}, {'connected_gene': 'IL27RA', 'score': 1.54}, {'connected_gene': 'PKN1', 'score': 1.43}, {'connected_gene': 'ZNF333', 'score': 1.21}, {'connected_gene': 'PTGER1', 'score': 0.37}]

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