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
ENST00000254322 [[14625581, 14626982], [14627277, 14627858], [14628950, 14629232]] [[14626751, 14626982], [14627277, 14627858], [14628950, 14629161]]
ENST00000396969 [[14626460, 14626982], [14627277, 14627858], [14638537, 14638622], [14640021, 14640120]] [[14626751, 14626982], [14627277, 14627769]]
ENST00000598235 [[14626924, 14626982], [14627277, 14627858], [14628402, 14628645]] [[14626924, 14626982], [14627277, 14627769]]
ENST00000595139 [[14627380, 14627858], [14628290, 14628381]] [[14627380, 14627858], [14628290, 14628300]]
ENST00000596853 [[14627419, 14627858], [14638537, 14638622], [14639936, 14640005]] [[14627419, 14627769]]
ENST00000595992 [[14627421, 14627858], [14638537, 14638622], [14640033, 14640112]] [[14627421, 14627769]]
ENST00000594099 [[14627447, 14627858], [14638498, 14638622], [14640122, 14640582]] [[14627447, 14627769]]
ENST00000601533 [[14627496, 14627858], [14638498, 14638622], [14640033, 14640120]] [[14627496, 14627769]]
ENST00000598692 [[14627528, 14627858], [14638498, 14638622], [14640021, 14640134]] [[14627528, 14627769]]
ENST00000596075 [[14627530, 14627858], [14628950, 14629080], [14638537, 14638622], [14640033, 14640063]] [[14627530, 14627769]]
ENST00000601087 [[14638178, 14638622], [14640021, 14640065]] None
NM_001300914 [[14625575, 14626982], [14627277, 14627858], [14628402, 14628674]] [[14626751, 14626982], [14627277, 14627769]]
NM_006145 [[14625575, 14626982], [14627277, 14627858], [14628950, 14629371]] [[14626751, 14626982], [14627277, 14627858], [14628950, 14629161]]
NM_001313964 [[14625575, 14626982], [14627277, 14627858], [14638537, 14638622], [14640021, 14640134]] [[14626751, 14626982], [14627277, 14627769]]
Promoter
Chrom Start End Description
chr19 14627684 14627713 CAGE_peak_5_at_DNAJB1_5end
chr19 14629071 14629095 CAGE_peak_12_at_DNAJB1_5end
chr19 14629195 14629216 CAGE_peak_1_at_DNAJB1_5end
chr19 14629224 14629262 CAGE_peak_2_at_DNAJB1_5end
chr19 14629264 14629275 CAGE_peak_3_at_DNAJB1_5end
chr19 14640050 14640124 CAGE_peak_4_at_DNAJB1_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 GH19I014782 14782858 14786862 1.52 [{'connected_gene': 'DCAF15', 'score': 29.08}, {'connected_gene': 'DDX39A', 'score': 24.45}, {'connected_gene': 'RFX1', 'score': 20.55}, {'connected_gene': 'ADGRE2', 'score': 19.87}, {'connected_gene': 'AKAP8', 'score': 16.14}, {'connected_gene': 'BRD4', 'score': 12.47}, {'connected_gene': 'OR7C1', 'score': 12.23}, {'connected_gene': 'ADGRE5', 'score': 9.32}, {'connected_gene': 'ZNF333', 'score': 8.05}, {'connected_gene': 'ADGRE3', 'score': 6.93}, {'connected_gene': 'OR7A5', 'score': 5.82}, {'connected_gene': 'PKN1', 'score': 5.61}, {'connected_gene': 'DNAJB1', 'score': 2.2}, {'connected_gene': 'LOC100129118', 'score': 0.44}]
chr19 GH19I014471 14471396 14479161 1.68 [{'connected_gene': 'PTGER1', 'score': 556.27}, {'connected_gene': 'CCDC130', 'score': 49.93}, {'connected_gene': 'AKAP8', 'score': 47.19}, {'connected_gene': 'MRI1', 'score': 32.21}, {'connected_gene': 'ZNF333', 'score': 30.49}, {'connected_gene': 'BRD4', 'score': 24.14}, {'connected_gene': 'DCAF15', 'score': 21.91}, {'connected_gene': 'RFX1', 'score': 21.09}, {'connected_gene': 'DDX39A', 'score': 12.62}, {'connected_gene': 'ADGRL1', 'score': 12.12}, {'connected_gene': 'NANOS3', 'score': 11.53}, {'connected_gene': 'PKN1', 'score': 7.33}, {'connected_gene': 'GIPC1', 'score': 5.73}, {'connected_gene': 'DNAJB1', 'score': 4.8}, {'connected_gene': 'ENSG00000267474', 'score': 0.37}]
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 GH19I014558 14558042 14565160 1.2 [{'connected_gene': 'NDUFB7', 'score': 6.05}, {'connected_gene': 'DNAJB1', 'score': 0.29}, {'connected_gene': 'TECR', 'score': 0.26}]
chr19 GH19I014566 14566869 14567018 0.2 [{'connected_gene': 'NDUFB7', 'score': 0.44}, {'connected_gene': 'DNAJB1', 'score': 0.28}]
chr19 GH19I014546 14544627 14546955 0.83 [{'connected_gene': 'NDUFB7', 'score': 12.91}, {'connected_gene': 'GIPC1', 'score': 11.75}, {'connected_gene': 'TECR', 'score': 5.73}, {'connected_gene': 'SLC1A6', 'score': 5.12}, {'connected_gene': 'DNAJB1', 'score': 0.37}]
chr19 GH19I014544 14544013 14544176 0.52 [{'connected_gene': 'NDUFB7', 'score': 12.91}, {'connected_gene': 'GIPC1', 'score': 11.75}, {'connected_gene': 'TECR', 'score': 5.79}, {'connected_gene': 'DNAJB1', 'score': 0.39}]
chr19 GH19I014542 14542334 14543401 0.92 [{'connected_gene': 'NDUFB7', 'score': 12.91}, {'connected_gene': 'GIPC1', 'score': 11.75}, {'connected_gene': 'TECR', 'score': 6.09}, {'connected_gene': 'LOC100507373', 'score': 5.1}, {'connected_gene': 'DNAJB1', 'score': 0.39}]
chr19 GH19I014545 14544318 14544418 0.72 [{'connected_gene': 'NDUFB7', 'score': 12.91}, {'connected_gene': 'GIPC1', 'score': 11.75}, {'connected_gene': 'DNAJB1', 'score': 0.39}, {'connected_gene': 'TECR', 'score': 0.31}]
chr19 GH19I014541 14541419 14541791 0.31 [{'connected_gene': 'NDUFB7', 'score': 12.89}, {'connected_gene': 'GIPC1', 'score': 11.75}, {'connected_gene': 'LOC100507373', 'score': 5.62}, {'connected_gene': 'DNAJB1', 'score': 0.39}, {'connected_gene': 'TECR', 'score': 0.34}]
chr19 GH19I014570 14570875 14572718 2.09 [{'connected_gene': 'NDUFB7', 'score': 556.83}, {'connected_gene': 'AKAP8', 'score': 16.14}, {'connected_gene': 'CCDC130', 'score': 15.49}, {'connected_gene': 'DDX39A', 'score': 15.4}, {'connected_gene': 'DCAF15', 'score': 13.88}, {'connected_gene': 'BRD4', 'score': 12.46}, {'connected_gene': 'RFX1', 'score': 12.22}, {'connected_gene': 'ENSG00000268189', 'score': 11.98}, {'connected_gene': 'WIZ', 'score': 10.81}, {'connected_gene': 'DNAJB1', 'score': 0.26}]
chr19 GH19I014078 14078201 14079200 0.46 [{'connected_gene': 'NANOS3', 'score': 13.83}, {'connected_gene': 'PRKACA', 'score': 12.7}, {'connected_gene': 'MIR181D', 'score': 12.47}, {'connected_gene': 'MIR181C', 'score': 12.47}, {'connected_gene': 'C19orf57', 'score': 11.63}, {'connected_gene': 'CC2D1A', 'score': 11.63}, {'connected_gene': 'ZSWIM4', 'score': 4.55}, {'connected_gene': 'CCDC130', 'score': 3.36}, {'connected_gene': 'ADGRE5', 'score': 2.72}, {'connected_gene': 'RFX1', 'score': 2.68}, {'connected_gene': 'PKN1', 'score': 1.6}, {'connected_gene': 'DCAF15', 'score': 1.27}, {'connected_gene': 'DNAJB1', 'score': 1.2}, {'connected_gene': 'GC19M014079', 'score': 0.77}, {'connected_gene': 'MIR1199', 'score': 0.44}]
chr19 GH19I014525 14525248 14531134 2.72 [{'connected_gene': 'DNAJB1', 'score': 561.5}, {'connected_gene': 'TECR', 'score': 556.69}, {'connected_gene': 'GC19P014531', 'score': 550.77}, {'connected_gene': 'PIR54842', 'score': 550.77}, {'connected_gene': 'MIR639', 'score': 550.77}, {'connected_gene': 'GC19P014530', 'score': 550.77}, {'connected_gene': 'CCDC130', 'score': 26.34}, {'connected_gene': 'AKAP8', 'score': 19.93}, {'connected_gene': 'MRI1', 'score': 18.09}, {'connected_gene': 'BRD4', 'score': 12.46}, {'connected_gene': 'ZNF333', 'score': 12.34}, {'connected_gene': 'RFX1', 'score': 9.74}, {'connected_gene': 'GIPC1', 'score': 5.98}, {'connected_gene': 'OR7C2', 'score': 4.92}]
chr19 GH19I014509 14509002 14511799 1.24 [{'connected_gene': 'DNAJB1', 'score': 10.19}, {'connected_gene': 'TECR', 'score': 4.82}, {'connected_gene': 'GC19P014515', 'score': 0.77}, {'connected_gene': 'GIPC1', 'score': 0.39}]
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 GH19I014289 14289498 14289800 0.39 [{'connected_gene': 'ADGRE2', 'score': 8.28}, {'connected_gene': 'DNAJB1', 'score': 1.97}, {'connected_gene': 'ENSG00000267723', 'score': 0.77}, {'connected_gene': 'ENSG00000267406', 'score': 0.34}]
chr19 GH19I014550 14550001 14555198 1.64 [{'connected_gene': 'LOC284454', 'score': 14.19}, {'connected_gene': 'CCDC130', 'score': 13.68}, {'connected_gene': 'RFX1', 'score': 10.28}, {'connected_gene': 'AKAP8L', 'score': 10.23}, {'connected_gene': 'MRI1', 'score': 10.18}, {'connected_gene': 'AKAP8', 'score': 10.07}, {'connected_gene': 'SLC1A6', 'score': 7.52}, {'connected_gene': 'OR7C2', 'score': 3.49}, {'connected_gene': 'NDUFB7', 'score': 0.37}, {'connected_gene': 'DNAJB1', 'score': 0.34}, {'connected_gene': 'TECR', 'score': 0.28}]
chr19 GH19I014536 14536521 14538519 1.05 [{'connected_gene': 'GIPC1', 'score': 12.15}, {'connected_gene': 'TECR', 'score': 5.71}, {'connected_gene': 'DNAJB1', 'score': 0.44}, {'connected_gene': 'NDUFB7', 'score': 0.29}]
chr19 GH19I014535 14535688 14536309 0.31 [{'connected_gene': 'GIPC1', 'score': 12.16}, {'connected_gene': 'TECR', 'score': 5.55}, {'connected_gene': 'DNAJB1', 'score': 0.44}, {'connected_gene': 'NDUFB7', 'score': 0.28}]
chr19 GH19I014531 14531732 14534134 0.72 [{'connected_gene': 'GIPC1', 'score': 12.16}, {'connected_gene': 'TECR', 'score': 5.77}, {'connected_gene': 'DNAJB1', 'score': 0.77}, {'connected_gene': 'NDUFB7', 'score': 0.28}]
chr19 GH19I014494 14494406 14498219 2.27 [{'connected_gene': 'GIPC1', 'score': 556.0}, {'connected_gene': 'AKAP8', 'score': 28.43}, {'connected_gene': 'BRD4', 'score': 22.67}, {'connected_gene': 'ZNF333', 'score': 21.81}, {'connected_gene': 'MRI1', 'score': 17.38}, {'connected_gene': 'CCDC130', 'score': 15.52}, {'connected_gene': 'DDX39A', 'score': 14.4}, {'connected_gene': 'DCAF15', 'score': 11.83}, {'connected_gene': 'RFX1', 'score': 11.57}, {'connected_gene': 'DNAJB1', 'score': 6.2}, {'connected_gene': 'GC19P014515', 'score': 0.37}]
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 GH19I014555 14555535 14557398 1.36 [{'connected_gene': 'AKAP8', 'score': 75.37}, {'connected_gene': 'CCDC130', 'score': 69.43}, {'connected_gene': 'MRI1', 'score': 44.94}, {'connected_gene': 'RFX1', 'score': 37.78}, {'connected_gene': 'BRD4', 'score': 36.33}, {'connected_gene': 'ZNF333', 'score': 31.8}, {'connected_gene': 'DCAF15', 'score': 23.92}, {'connected_gene': 'DDX39A', 'score': 21.0}, {'connected_gene': 'AKAP8L', 'score': 18.27}, {'connected_gene': 'SNRPGP15', 'score': 10.0}, {'connected_gene': 'NDUFB7', 'score': 5.45}, {'connected_gene': 'DNAJB1', 'score': 0.31}, {'connected_gene': 'TECR', 'score': 0.28}]
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 GH19I014080 14080001 14082800 1.71 [{'connected_gene': 'GC19M014079', 'score': 550.77}, {'connected_gene': 'PRKACA', 'score': 18.09}, {'connected_gene': 'PALM3', 'score': 16.12}, {'connected_gene': 'ADGRE5', 'score': 5.17}, {'connected_gene': 'ZSWIM4', 'score': 5.03}, {'connected_gene': 'ADGRL1', 'score': 4.68}, {'connected_gene': 'CCDC130', 'score': 2.84}, {'connected_gene': 'RFX1', 'score': 2.66}, {'connected_gene': 'PKN1', 'score': 2.13}, {'connected_gene': 'DCAF15', 'score': 1.75}, {'connected_gene': 'DNAJB1', 'score': 1.38}, {'connected_gene': 'C19orf67', 'score': 0.77}, {'connected_gene': 'MIR1199', 'score': 0.44}]

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