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
ENST00000395699 [[44915895, 44924960]] [[44924008, 44924947]]
NM_033224 [[44915891, 44924984]] [[44924008, 44924947]]
Promoter
Chrom Start End Description
chr7 44924939 44924993 CAGE_peak_2_at_PURB_5end
chr7 44925044 44925156 CAGE_peak_1_at_PURB_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I044893 44893266 44896273 1.18 [{'connected_gene': 'H2AFV', 'score': 18.63}, {'connected_gene': 'LINC01952', 'score': 11.85}, {'connected_gene': 'MYO1G', 'score': 10.97}, {'connected_gene': 'ENSG00000228596', 'score': 10.72}, {'connected_gene': 'PPIA', 'score': 6.92}, {'connected_gene': 'PURB', 'score': 6.42}, {'connected_gene': 'ZMIZ2', 'score': 5.86}, {'connected_gene': 'OGDH', 'score': 1.75}, {'connected_gene': 'PIR53562', 'score': 0.77}, {'connected_gene': 'LOC105375262', 'score': 0.39}]
chr7 GH07I044588 44588400 44588601 0.74 [{'connected_gene': 'H2AFV', 'score': 11.54}, {'connected_gene': 'LINC01952', 'score': 11.54}, {'connected_gene': 'ENSG00000228596', 'score': 11.47}, {'connected_gene': 'PURB', 'score': 10.71}, {'connected_gene': 'PIR35616', 'score': 0.44}, {'connected_gene': 'GC07P044582', 'score': 0.44}, {'connected_gene': 'ENSG00000271586', 'score': 0.39}]
chr7 GH07I044589 44588182 44588371 0.75 [{'connected_gene': 'H2AFV', 'score': 11.54}, {'connected_gene': 'LINC01952', 'score': 11.54}, {'connected_gene': 'ENSG00000228596', 'score': 11.47}, {'connected_gene': 'PURB', 'score': 10.71}, {'connected_gene': 'PIR35616', 'score': 0.44}, {'connected_gene': 'GC07P044582', 'score': 0.44}, {'connected_gene': 'ENSG00000271586', 'score': 0.39}]
chr7 GH07I044824 44824601 44826572 0.99 [{'connected_gene': 'ZMIZ2', 'score': 18.12}, {'connected_gene': 'DDX56', 'score': 17.12}, {'connected_gene': 'H2AFV', 'score': 11.95}, {'connected_gene': 'LINC01952', 'score': 11.95}, {'connected_gene': 'ENSG00000228596', 'score': 11.7}, {'connected_gene': 'PURB', 'score': 10.75}, {'connected_gene': 'PPIA', 'score': 6.85}, {'connected_gene': 'PIR39901', 'score': 0.77}, {'connected_gene': 'LOC105375260', 'score': 0.77}]
chr7 GH07I044997 44997963 45002495 2.5 [{'connected_gene': 'CCM2', 'score': 563.25}, {'connected_gene': 'LOC102723334', 'score': 550.77}, {'connected_gene': 'SNORA5C', 'score': 17.04}, {'connected_gene': 'POLM', 'score': 16.72}, {'connected_gene': 'ENSG00000260997', 'score': 15.92}, {'connected_gene': 'DDX56', 'score': 13.88}, {'connected_gene': 'SNORA5A', 'score': 11.63}, {'connected_gene': 'SNORA5B', 'score': 11.3}, {'connected_gene': 'ENSG00000228434', 'score': 11.29}, {'connected_gene': 'SNHG15', 'score': 10.63}, {'connected_gene': 'TMED4', 'score': 10.44}, {'connected_gene': 'TBRG4', 'score': 10.21}, {'connected_gene': 'CICP20', 'score': 9.83}, {'connected_gene': 'PURB', 'score': 5.74}, {'connected_gene': 'MYO1G', 'score': 1.87}, {'connected_gene': 'OGDH', 'score': 1.61}, {'connected_gene': 'GC07M045025', 'score': 0.29}]
chr7 GH07I044975 44975655 44982189 2.41 [{'connected_gene': 'MYO1G', 'score': 570.47}, {'connected_gene': 'CCM2', 'score': 32.69}, {'connected_gene': 'ENSG00000260997', 'score': 18.12}, {'connected_gene': 'PURB', 'score': 11.97}, {'connected_gene': 'RAMP3', 'score': 10.82}, {'connected_gene': 'SNHG15', 'score': 10.43}, {'connected_gene': 'OGDH', 'score': 3.42}, {'connected_gene': 'ZMIZ2', 'score': 1.98}]
chr7 GH07I044897 44897369 44897653 0.37 [{'connected_gene': 'MYO1G', 'score': 16.3}, {'connected_gene': 'LINC01952', 'score': 11.85}, {'connected_gene': 'H2AFV', 'score': 11.85}, {'connected_gene': 'ENSG00000228596', 'score': 10.72}, {'connected_gene': 'PURB', 'score': 9.52}, {'connected_gene': 'OGDH', 'score': 2.42}, {'connected_gene': 'LOC105375262', 'score': 0.44}, {'connected_gene': 'PIR53562', 'score': 0.44}]
chr7 GH07I044921 44921702 44921851 0.69 [{'connected_gene': 'PURB', 'score': 12.13}, {'connected_gene': 'H2AFV', 'score': 11.84}, {'connected_gene': 'LINC01952', 'score': 11.84}, {'connected_gene': 'ENSG00000228596', 'score': 10.88}, {'connected_gene': 'ZMIZ2', 'score': 6.67}, {'connected_gene': 'MRPS23P1', 'score': 0.77}, {'connected_gene': 'ENSG00000260997', 'score': 0.28}]
chr7 GH07I044912 44912001 44913000 0.49 [{'connected_gene': 'PURB', 'score': 12.42}, {'connected_gene': 'H2AFV', 'score': 11.69}, {'connected_gene': 'LINC01952', 'score': 11.69}, {'connected_gene': 'MYO1G', 'score': 11.56}, {'connected_gene': 'PPIA', 'score': 4.66}, {'connected_gene': 'MRPS23P1', 'score': 0.44}, {'connected_gene': 'LOC105375262', 'score': 0.44}]
chr7 GH07I044922 44922400 44922600 0.69 [{'connected_gene': 'PURB', 'score': 12.13}, {'connected_gene': 'H2AFV', 'score': 11.84}, {'connected_gene': 'LINC01952', 'score': 11.84}, {'connected_gene': 'ENSG00000228596', 'score': 10.89}, {'connected_gene': 'MRPS23P1', 'score': 0.77}, {'connected_gene': 'ENSG00000260997', 'score': 0.28}]
chr7 GH07I044923 44922000 44922201 0.74 [{'connected_gene': 'PURB', 'score': 12.13}, {'connected_gene': 'H2AFV', 'score': 11.84}, {'connected_gene': 'LINC01952', 'score': 11.84}, {'connected_gene': 'ENSG00000228596', 'score': 10.88}, {'connected_gene': 'MRPS23P1', 'score': 0.77}, {'connected_gene': 'ENSG00000260997', 'score': 0.28}]
chr7 GH07I044924 44922202 44922371 0.72 [{'connected_gene': 'PURB', 'score': 12.13}, {'connected_gene': 'H2AFV', 'score': 11.84}, {'connected_gene': 'LINC01952', 'score': 11.84}, {'connected_gene': 'ENSG00000228596', 'score': 10.88}, {'connected_gene': 'MRPS23P1', 'score': 0.77}, {'connected_gene': 'ENSG00000260997', 'score': 0.28}]
chr7 GH07I044613 44613873 44626909 1.64 [{'connected_gene': 'PURB', 'score': 25.43}, {'connected_gene': 'ZMIZ2', 'score': 16.61}, {'connected_gene': 'URGCP', 'score': 12.98}, {'connected_gene': 'ENSG00000228596', 'score': 11.51}, {'connected_gene': 'MYO1G', 'score': 10.35}, {'connected_gene': 'OGDH', 'score': 8.36}, {'connected_gene': 'DDX56', 'score': 7.92}, {'connected_gene': 'NUDCD3', 'score': 5.21}, {'connected_gene': 'TMED4', 'score': 1.75}, {'connected_gene': 'GC07M044657', 'score': 0.18}]
chr7 GH07I045192 45192362 45193200 0.66 [{'connected_gene': 'PURB', 'score': 13.87}, {'connected_gene': 'MYO1G', 'score': 7.33}, {'connected_gene': 'ZMIZ2', 'score': 1.28}, {'connected_gene': 'GC07P045166', 'score': 0.31}, {'connected_gene': 'GC07M045182', 'score': 0.18}, {'connected_gene': 'GC07P045063', 'score': 0.13}]
chr7 GH07I044733 44733402 44737546 1.27 [{'connected_gene': 'PURB', 'score': 16.11}, {'connected_gene': 'DDX56', 'score': 14.07}, {'connected_gene': 'MYO1G', 'score': 11.94}, {'connected_gene': 'ENSG00000228434', 'score': 10.33}, {'connected_gene': 'SPDYE1', 'score': 10.26}, {'connected_gene': 'POLM', 'score': 10.0}, {'connected_gene': 'ZMIZ2', 'score': 8.74}, {'connected_gene': 'OGDH', 'score': 5.61}, {'connected_gene': 'GC07P044747', 'score': 0.39}, {'connected_gene': 'GC07M044657', 'score': 0.29}]
chr7 GH07I044915 44915083 44915379 0.89 [{'connected_gene': 'PURB', 'score': 14.08}, {'connected_gene': 'LINC01952', 'score': 12.09}, {'connected_gene': 'H2AFV', 'score': 12.09}, {'connected_gene': 'ENSG00000228596', 'score': 10.93}, {'connected_gene': 'MYO1G', 'score': 1.84}, {'connected_gene': 'ZMIZ2', 'score': 1.79}, {'connected_gene': 'OGDH', 'score': 1.74}, {'connected_gene': 'DDX56', 'score': 1.61}, {'connected_gene': 'CCM2', 'score': 1.39}, {'connected_gene': 'MRPS23P1', 'score': 0.77}, {'connected_gene': 'LOC105375262', 'score': 0.39}]
chr7 GH07I044699 44699817 44700873 0.49 [{'connected_gene': 'DDX56', 'score': 17.18}, {'connected_gene': 'PURB', 'score': 10.61}, {'connected_gene': 'GC07M044657', 'score': 0.77}, {'connected_gene': 'OGDH', 'score': 0.16}]
chr7 GH07I044628 44628409 44641999 1.81 [{'connected_gene': 'DDX56', 'score': 31.05}, {'connected_gene': 'OGDH', 'score': 22.15}, {'connected_gene': 'H2AFV', 'score': 21.75}, {'connected_gene': 'SNORA5C', 'score': 21.7}, {'connected_gene': 'PURB', 'score': 19.81}, {'connected_gene': 'SNORA5B', 'score': 19.34}, {'connected_gene': 'NACAD', 'score': 18.78}, {'connected_gene': 'NUDCD3', 'score': 13.99}, {'connected_gene': 'TMED4', 'score': 12.56}, {'connected_gene': 'ENSG00000228434', 'score': 12.36}, {'connected_gene': 'SPDYE1', 'score': 12.25}, {'connected_gene': 'MYO1G', 'score': 11.73}, {'connected_gene': 'ENSG00000228596', 'score': 11.49}, {'connected_gene': 'SNHG15', 'score': 10.99}, {'connected_gene': 'LINC01952', 'score': 10.91}, {'connected_gene': 'POLM', 'score': 10.23}, {'connected_gene': 'GCK', 'score': 9.78}, {'connected_gene': 'PPIA', 'score': 4.98}, {'connected_gene': 'CCM2', 'score': 2.48}, {'connected_gene': 'ZMIZ2', 'score': 2.07}, {'connected_gene': 'GC07M044657', 'score': 0.2}]
chr7 GH07I044175 44175401 44178706 0.74 [{'connected_gene': 'DDX56', 'score': 11.07}, {'connected_gene': 'TUBG1P', 'score': 10.76}, {'connected_gene': 'NACAD', 'score': 10.25}, {'connected_gene': 'PURB', 'score': 9.83}, {'connected_gene': 'GCK', 'score': 5.93}, {'connected_gene': 'URGCP', 'score': 4.82}, {'connected_gene': 'YKT6', 'score': 4.49}, {'connected_gene': 'LOC105375257', 'score': 0.77}]
chr7 GH07I044488 44488995 44491586 2.31 [{'connected_gene': 'NUDCD3', 'score': 580.76}, {'connected_gene': 'DDX56', 'score': 32.41}, {'connected_gene': 'TMED4', 'score': 12.48}, {'connected_gene': 'URGCP', 'score': 12.0}, {'connected_gene': 'SNORA5B', 'score': 11.02}, {'connected_gene': 'SNORA5C', 'score': 10.77}, {'connected_gene': 'PURB', 'score': 9.82}, {'connected_gene': 'GC07M044473', 'score': 0.37}, {'connected_gene': 'GC07M044472', 'score': 0.37}]
chr7 GH07I044845 44845500 44849667 2.12 [{'connected_gene': 'LINC01952', 'score': 550.77}, {'connected_gene': 'H2AFV', 'score': 550.77}, {'connected_gene': 'CICP20', 'score': 68.11}, {'connected_gene': 'DDX56', 'score': 46.55}, {'connected_gene': 'SNORA5C', 'score': 41.11}, {'connected_gene': 'POLM', 'score': 39.05}, {'connected_gene': 'SNORA5B', 'score': 32.01}, {'connected_gene': 'ENSG00000228434', 'score': 29.96}, {'connected_gene': 'SPDYE1', 'score': 28.7}, {'connected_gene': 'TMED4', 'score': 22.39}, {'connected_gene': 'SNHG15', 'score': 20.77}, {'connected_gene': 'SNORA5A', 'score': 20.11}, {'connected_gene': 'TBRG4', 'score': 18.45}, {'connected_gene': 'URGCP', 'score': 12.0}, {'connected_gene': 'SEPT7P2', 'score': 10.15}, {'connected_gene': 'PURB', 'score': 10.04}, {'connected_gene': 'PPIA', 'score': 7.12}, {'connected_gene': 'ZMIZ2', 'score': 5.98}, {'connected_gene': 'PIR39901', 'score': 0.37}]
chr7 GH07I045205 45205011 45205376 0.22 [{'connected_gene': 'RAMP3', 'score': 5.52}, {'connected_gene': 'MYO1G', 'score': 2.29}, {'connected_gene': 'PURB', 'score': 1.89}, {'connected_gene': 'GC07P045166', 'score': 0.28}, {'connected_gene': 'GC07M045182', 'score': 0.2}]
chr7 GH07I044880 44880217 44889973 2.29 [{'connected_gene': 'PIR54023', 'score': 550.77}, {'connected_gene': 'PURB', 'score': 550.77}, {'connected_gene': 'ENSG00000272768', 'score': 550.77}, {'connected_gene': 'H2AFV', 'score': 18.46}, {'connected_gene': 'LINC01952', 'score': 12.07}, {'connected_gene': 'SNHG15', 'score': 11.59}, {'connected_gene': 'MYO1G', 'score': 11.39}, {'connected_gene': 'ENSG00000228596', 'score': 11.05}, {'connected_gene': 'PPIA', 'score': 9.17}, {'connected_gene': 'ZMIZ2', 'score': 6.78}, {'connected_gene': 'MIR4657', 'score': 0.77}]
chr7 GH07I044961 44961916 44963864 0.76 [{'connected_gene': 'ENSG00000260997', 'score': 550.77}, {'connected_gene': 'PURB', 'score': 15.43}, {'connected_gene': 'SEPT7P2', 'score': 14.3}, {'connected_gene': 'DDX56', 'score': 12.17}, {'connected_gene': 'ENSG00000228596', 'score': 10.57}, {'connected_gene': 'TMED4', 'score': 10.35}, {'connected_gene': 'MYO1G', 'score': 5.06}]

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