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
ENST00000432186 [[45064592, 45064685], [45098371, 45098488], [45110470, 45110551], [45121123, 45121172], [45122456, 45122514], [45127609, 45127701], [45128130, 45128271], [45130906, 45131042], [45132651, 45132789]] [[45098381, 45098488], [45110470, 45110551], [45121123, 45121172], [45122456, 45122514], [45127609, 45127701], [45128130, 45128271], [45130906, 45131042], [45132651, 45132789]]
ENST00000492475 [[45072860, 45073120], [45110470, 45110551], [45121123, 45121172], [45122456, 45122514], [45127609, 45127701], [45128130, 45128271], [45130906, 45131042], [45132651, 45132754]] None
ENST00000006251 [[45072936, 45073120], [45098371, 45098488], [45110470, 45110551], [45121123, 45121172], [45122456, 45122514], [45127609, 45127701], [45128130, 45128271], [45130906, 45131042], [45132651, 45133560]] [[45098381, 45098488], [45110470, 45110551], [45121123, 45121172], [45122456, 45122514], [45127609, 45127701], [45128130, 45128271], [45130906, 45131042], [45132651, 45133127]]
ENST00000459857 [[45072964, 45073120], [45098371, 45098488], [45110470, 45110551], [45121123, 45121176], [45122456, 45122514], [45125193, 45125288]] None
ENST00000403581 [[45072964, 45073120], [45075226, 45075765], [45098371, 45098488], [45110470, 45110551], [45121123, 45121172], [45122456, 45122514], [45127609, 45127701], [45128130, 45128271], [45130906, 45131042], [45132651, 45133561]] [[45075679, 45075765], [45098371, 45098488], [45110470, 45110551], [45121123, 45121172], [45122456, 45122514], [45127609, 45127701], [45128130, 45128271], [45130906, 45131042], [45132651, 45133127]]
ENST00000492289 [[45073013, 45073120], [45098371, 45098488], [45110470, 45110551], [45121123, 45121172], [45122456, 45122514], [45126489, 45126812]] None
ENST00000336985 [[45098077, 45098488], [45110470, 45110551], [45121123, 45121172], [45122456, 45122514], [45127609, 45127701], [45128130, 45128271], [45130906, 45131042], [45132651, 45133561]] [[45098354, 45098488], [45110470, 45110551], [45121123, 45121172], [45122456, 45122514], [45127609, 45127701], [45128130, 45128271], [45130906, 45131042], [45132651, 45133127]]
ENST00000403696 [[45098097, 45098488], [45110470, 45110551], [45121123, 45121172], [45122456, 45122514], [45127558, 45127701], [45128130, 45128197]] [[45098354, 45098488], [45110470, 45110551], [45121123, 45121172], [45122456, 45122514], [45127558, 45127701], [45128130, 45128197]]
ENST00000457960 [[45098097, 45098289], [45098371, 45098488], [45110470, 45110551], [45121123, 45121172], [45122456, 45122514], [45127609, 45127701], [45128130, 45128271], [45130906, 45131042], [45132651, 45132666]] [[45098381, 45098488], [45110470, 45110551], [45121123, 45121172], [45122456, 45122514], [45127609, 45127701], [45128130, 45128271], [45130906, 45131042], [45132651, 45132666]]
ENST00000431834 [[45098098, 45098488], [45110470, 45110551], [45121123, 45121172], [45122456, 45122514], [45127614, 45127701], [45128130, 45128271], [45130906, 45131042], [45132651, 45133321]] [[45098354, 45098488], [45110470, 45110551], [45121123, 45121172], [45122456, 45122514], [45127614, 45127661]]
ENST00000432916 [[45098365, 45098488], [45110470, 45110551], [45121123, 45121172], [45122456, 45122514], [45127614, 45127701], [45128130, 45128271], [45132651, 45133542]] [[45098381, 45098488], [45110470, 45110551], [45121123, 45121172], [45122456, 45122514], [45127614, 45127661]]
ENST00000477331 [[45098399, 45098488], [45110470, 45110551], [45122456, 45122514], [45127609, 45127701], [45128130, 45128271], [45130906, 45131042], [45132651, 45133095]] None
ENST00000455389 [[45126683, 45126884], [45127609, 45127701], [45128130, 45128271], [45130906, 45131042], [45132651, 45133512]] [[45126683, 45126884], [45127609, 45127701], [45128130, 45128271], [45130906, 45131042], [45132651, 45133127]]
ENST00000495017 [[45126763, 45127701], [45128130, 45128271], [45130906, 45131042], [45132651, 45133561]] None
ENST00000475850 [[45129987, 45131042], [45132651, 45133561]] None
NM_001017529 [[45064426, 45064685], [45110470, 45110551], [45121123, 45121172], [45122456, 45122514], [45127609, 45127701], [45128130, 45128271], [45130906, 45131042], [45132651, 45133561]] [[45122477, 45122514], [45127609, 45127701], [45128130, 45128271], [45130906, 45131042], [45132651, 45133127]]
NM_001017528 [[45064426, 45064685], [45098371, 45098488], [45110470, 45110551], [45121123, 45121172], [45122456, 45122514], [45127609, 45127701], [45128130, 45128271], [45130906, 45131042], [45132651, 45133561]] [[45098381, 45098488], [45110470, 45110551], [45121123, 45121172], [45122456, 45122514], [45127609, 45127701], [45128130, 45128271], [45130906, 45131042], [45132651, 45133127]]
NM_001017530 [[45072687, 45073120], [45110470, 45110551], [45121123, 45121172], [45122456, 45122514], [45127609, 45127701], [45128130, 45128271], [45130906, 45131042], [45132651, 45133561]] [[45122477, 45122514], [45127609, 45127701], [45128130, 45128271], [45130906, 45131042], [45132651, 45133127]]
NM_015366 [[45072687, 45073120], [45098371, 45098488], [45110470, 45110551], [45121123, 45121172], [45122456, 45122514], [45127609, 45127701], [45128130, 45128271], [45130906, 45131042], [45132651, 45133561]] [[45098381, 45098488], [45110470, 45110551], [45121123, 45121172], [45122456, 45122514], [45127609, 45127701], [45128130, 45128271], [45130906, 45131042], [45132651, 45133127]]
NM_001198721 [[45072687, 45073120], [45075226, 45075765], [45098371, 45098488], [45110470, 45110551], [45121123, 45121172], [45122456, 45122514], [45127609, 45127701], [45128130, 45128271], [45130906, 45131042], [45132651, 45133561]] [[45075679, 45075765], [45098371, 45098488], [45110470, 45110551], [45121123, 45121172], [45122456, 45122514], [45127609, 45127701], [45128130, 45128271], [45130906, 45131042], [45132651, 45133127]]
NM_181333 [[45098077, 45098488], [45110470, 45110551], [45121123, 45121172], [45122456, 45122514], [45127609, 45127701], [45128130, 45128271], [45130906, 45131042], [45132651, 45133561]] [[45098354, 45098488], [45110470, 45110551], [45121123, 45121172], [45122456, 45122514], [45127609, 45127701], [45128130, 45128271], [45130906, 45131042], [45132651, 45133127]]
Promoter
Chrom Start End Description
chr22 45064469 45064490 CAGE_peak_4_at_PRR5_5end
chr22 45064621 45064656 CAGE_peak_2_at_PRR5_5end
chr22 45072793 45072804 CAGE_peak_15_at_PRR5_5end
chr22 45072854 45072867 CAGE_peak_12_at_PRR5_5end
chr22 45072883 45072911 CAGE_peak_5_at_PRR5_5end
chr22 45072925 45072942 CAGE_peak_6_at_PRR5_5end
chr22 45072958 45072972 CAGE_peak_3_at_PRR5_5end
chr22 45072983 45072995 CAGE_peak_9_at_PRR5_5end
chr22 45098067 45098143 CAGE_peak_1_at_ARHGAP8_5end,CAGE_peak_1_at_PRR5-ARHGAP8_5end,CAGE_peak_1_at_PRR5_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr22 GH22I044691 44691279 44692982 0.76 [{'connected_gene': 'SHISAL1', 'score': 9.78}, {'connected_gene': 'PRR5-ARHGAP8', 'score': 0.39}, {'connected_gene': 'PRR5', 'score': 0.34}]
chr22 GH22I044689 44689281 44689430 0.68 [{'connected_gene': 'SHISAL1', 'score': 9.78}, {'connected_gene': 'PRR5-ARHGAP8', 'score': 0.39}, {'connected_gene': 'PRR5', 'score': 0.34}]
chr22 GH22I044619 44619641 44621326 1.47 [{'connected_gene': 'PARVG', 'score': 11.88}, {'connected_gene': 'PRR5', 'score': 5.55}, {'connected_gene': 'LINC00229', 'score': 0.77}, {'connected_gene': 'LOC105373060', 'score': 0.77}, {'connected_gene': 'LINC00207', 'score': 0.23}]
chr22 GH22I044608 44608278 44610127 0.46 [{'connected_gene': 'PRR5', 'score': 11.5}, {'connected_gene': 'SHISAL1', 'score': 10.33}, {'connected_gene': 'ENSG00000220702', 'score': 10.04}, {'connected_gene': 'SAMM50', 'score': 9.39}, {'connected_gene': 'RPL35AP36', 'score': 9.39}, {'connected_gene': 'LOC105373060', 'score': 0.39}, {'connected_gene': 'LINC00229', 'score': 0.37}, {'connected_gene': 'LINC00207', 'score': 0.28}]
chr22 GH22I044671 44671236 44672408 1.02 [{'connected_gene': 'PRR5', 'score': 9.75}, {'connected_gene': 'PARVG', 'score': 1.64}, {'connected_gene': 'NUP50', 'score': 1.48}, {'connected_gene': 'PRR5-ARHGAP8', 'score': 0.29}]
chr22 GH22I044676 44676019 44678326 1.7 [{'connected_gene': 'PRR5', 'score': 550.44}, {'connected_gene': 'PRR5-ARHGAP8', 'score': 12.7}, {'connected_gene': 'ARHGAP8', 'score': 12.57}, {'connected_gene': 'ENSG00000232363', 'score': 5.33}]
chr22 GH22I044697 44697501 44703815 2.37 [{'connected_gene': 'PRR5', 'score': 561.71}, {'connected_gene': 'PRR5-ARHGAP8', 'score': 550.77}, {'connected_gene': 'ENSG00000273243', 'score': 11.13}]
chr22 GH22I044718 44718013 44719358 0.63 [{'connected_gene': 'PRR5', 'score': 5.61}, {'connected_gene': 'GC22P044710', 'score': 0.44}, {'connected_gene': 'PIR46615', 'score': 0.39}, {'connected_gene': 'PRR5-ARHGAP8', 'score': 0.37}, {'connected_gene': 'GC22M044704', 'score': 0.03}]
chr22 GH22I044720 44720133 44720834 0.4 [{'connected_gene': 'PRR5', 'score': 5.14}, {'connected_gene': 'GC22P044710', 'score': 0.39}, {'connected_gene': 'PIR46615', 'score': 0.39}, {'connected_gene': 'PRR5-ARHGAP8', 'score': 0.37}, {'connected_gene': 'GC22M044704', 'score': 0.03}]
chr22 GH22I044633 44633121 44633270 0.2 [{'connected_gene': 'PRR5', 'score': 12.53}, {'connected_gene': 'GC22P044638', 'score': 0.77}, {'connected_gene': 'LINC00229', 'score': 0.44}]
chr22 GH22I044757 44757973 44760186 1 [{'connected_gene': 'PRR5-ARHGAP8', 'score': 11.87}, {'connected_gene': 'PRR5', 'score': 11.81}, {'connected_gene': 'ARHGAP8', 'score': 0.44}, {'connected_gene': 'LOC105373062', 'score': 0.14}, {'connected_gene': 'GC22M044704', 'score': 0.03}]
chr22 GH22I044684 44684301 44687671 1.64 [{'connected_gene': 'ARHGAP8', 'score': 12.59}, {'connected_gene': 'SHISAL1', 'score': 10.11}, {'connected_gene': 'PRR5', 'score': 4.15}, {'connected_gene': 'PRR5-ARHGAP8', 'score': 0.37}]
chr22 GH22I044683 44683036 44684226 0.77 [{'connected_gene': 'ARHGAP8', 'score': 12.59}, {'connected_gene': 'PRR5', 'score': 0.37}, {'connected_gene': 'PRR5-ARHGAP8', 'score': 0.37}]
chr22 GH22I044735 44735594 44736610 0.72 [{'connected_gene': 'ARHGAP8', 'score': 5.43}, {'connected_gene': 'PIR46615', 'score': 0.44}, {'connected_gene': 'GC22P044753', 'score': 0.37}, {'connected_gene': 'PRR5-ARHGAP8', 'score': 0.29}, {'connected_gene': 'PRR5', 'score': 0.2}, {'connected_gene': 'GC22M044704', 'score': 0.03}]
chr22 GH22I044736 44736982 44737899 0.43 [{'connected_gene': 'NUP50', 'score': 5.44}, {'connected_gene': 'PIR46615', 'score': 0.44}, {'connected_gene': 'GC22P044753', 'score': 0.39}, {'connected_gene': 'PRR5-ARHGAP8', 'score': 0.28}, {'connected_gene': 'PRR5', 'score': 0.2}, {'connected_gene': 'GC22M044704', 'score': 0.03}]
chr22 GH22I044709 44709086 44713321 1.09 [{'connected_gene': 'GC22P044710', 'score': 550.77}, {'connected_gene': 'PRR5', 'score': 5.12}, {'connected_gene': 'PRR5-ARHGAP8', 'score': 0.44}, {'connected_gene': 'PIR46615', 'score': 0.37}, {'connected_gene': 'GC22M044704', 'score': 0.03}]
chr22 GH22I044667 44667002 44669201 1.68 [{'connected_gene': 'GC22P044669', 'score': 550.77}, {'connected_gene': 'PRR5', 'score': 550.77}, {'connected_gene': 'GC22P044670', 'score': 550.77}, {'connected_gene': 'ANP32BP2', 'score': 0.37}]
chr22 GH22I044638 44638415 44640323 0.97 [{'connected_gene': 'GC22P044638', 'score': 550.77}, {'connected_gene': 'PRR5', 'score': 1.7}, {'connected_gene': 'ANP32BP2', 'score': 0.39}]
chr22 GH22I044707 44707960 44708641 0.31 [{'connected_gene': 'GC22P044710', 'score': 550.77}, {'connected_gene': 'PRR5-ARHGAP8', 'score': 0.44}, {'connected_gene': 'PRR5', 'score': 0.28}, {'connected_gene': 'GC22M044704', 'score': 0.02}]
chr22 GH22I044721 44721264 44721536 0.53 [{'connected_gene': 'PIR46615', 'score': 0.44}, {'connected_gene': 'GC22P044710', 'score': 0.39}, {'connected_gene': 'PRR5-ARHGAP8', 'score': 0.37}, {'connected_gene': 'PRR5', 'score': 0.23}, {'connected_gene': 'GC22M044704', 'score': 0.03}]
chr22 GH22I044722 44722418 44722897 0.31 [{'connected_gene': 'PIR46615', 'score': 0.44}, {'connected_gene': 'GC22P044710', 'score': 0.39}, {'connected_gene': 'PRR5-ARHGAP8', 'score': 0.34}, {'connected_gene': 'PRR5', 'score': 0.23}, {'connected_gene': 'GC22M044704', 'score': 0.03}]
chr22 GH22I044727 44727642 44730845 0.99 [{'connected_gene': 'PIR46615', 'score': 550.77}, {'connected_gene': 'ARHGAP8', 'score': 6.47}, {'connected_gene': 'NUP50', 'score': 5.25}, {'connected_gene': 'GC22P044710', 'score': 0.37}, {'connected_gene': 'PRR5-ARHGAP8', 'score': 0.31}, {'connected_gene': 'PRR5', 'score': 0.21}, {'connected_gene': 'GC22M044704', 'score': 0.03}]

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