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
ENST00000446900 [[89401455, 89401928], [89408687, 89408774], [89409032, 89409106], [89414773, 89414960], [89418745, 89418835], [89420831, 89420908], [89426849, 89426970], [89427063, 89427189], [89427741, 89427828], [89430238, 89430395], [89430511, 89430661], [89434352, 89434497], [89435091, 89435150], [89453934, 89454038]] None
ENST00000370491 [[89401455, 89401928], [89408687, 89408774], [89409032, 89409106], [89414773, 89414960], [89418745, 89418835], [89420831, 89420908], [89426849, 89426970], [89427063, 89427189], [89427741, 89427828], [89430511, 89430661], [89434352, 89434497], [89435091, 89435150], [89458267, 89458459]] [[89401865, 89401928], [89408687, 89408774], [89409032, 89409106], [89414773, 89414960], [89418745, 89418835], [89420831, 89420908], [89426849, 89426970], [89427063, 89427189], [89427741, 89427828], [89430511, 89430661], [89434352, 89434497], [89435091, 89435147]]
ENST00000260508 [[89401498, 89401928], [89408687, 89408774], [89409032, 89409106], [89414773, 89414960], [89418745, 89418835], [89420831, 89420908], [89426849, 89426970], [89427063, 89427189], [89427741, 89427828], [89430511, 89430661], [89434352, 89434497], [89435091, 89435150], [89453934, 89454034], [89458267, 89458604]] [[89401865, 89401928], [89408687, 89408774], [89409032, 89409106], [89414773, 89414960], [89418745, 89418835], [89420831, 89420908], [89426849, 89426970], [89427063, 89427189], [89427741, 89427828], [89430511, 89430661], [89434352, 89434497], [89435091, 89435150]]
ENST00000370485 [[89401541, 89401928], [89408687, 89408774], [89409032, 89409106], [89414773, 89414960], [89418745, 89418835], [89420831, 89420908], [89426849, 89426970], [89427063, 89427189], [89427741, 89427828], [89430238, 89430395], [89430511, 89430661], [89434352, 89434497], [89435091, 89435150], [89453934, 89454034], [89458267, 89458287]] [[89430344, 89430395], [89430511, 89430661], [89434352, 89434497], [89435091, 89435150]]
ENST00000370486 [[89426849, 89426970], [89427063, 89427189], [89427741, 89427828], [89430511, 89430661], [89434352, 89434497], [89435091, 89435150], [89453934, 89454034], [89458267, 89458431], [89458569, 89458636]] [[89426849, 89426970], [89427063, 89427189], [89427741, 89427828], [89430511, 89430661], [89434352, 89434497], [89435091, 89435150]]
NM_001008661 [[89401455, 89401928], [89408687, 89408774], [89409032, 89409106], [89414773, 89414960], [89418745, 89418835], [89420831, 89420908], [89426849, 89426970], [89427063, 89427189], [89427741, 89427828], [89430511, 89430661], [89434352, 89434497], [89435091, 89435150], [89453934, 89454034], [89458267, 89458643]] [[89401865, 89401928], [89408687, 89408774], [89409032, 89409106], [89414773, 89414960], [89418745, 89418835], [89420831, 89420908], [89426849, 89426970], [89427063, 89427189], [89427741, 89427828], [89430511, 89430661], [89434352, 89434497], [89435091, 89435150]]
NM_001008662 [[89401455, 89401928], [89408687, 89408774], [89409032, 89409106], [89414773, 89414960], [89418745, 89418835], [89420831, 89420908], [89426849, 89426970], [89427063, 89427189], [89427741, 89427828], [89430511, 89430661], [89434352, 89434497], [89435091, 89435150], [89458267, 89458643]] [[89401865, 89401928], [89408687, 89408774], [89409032, 89409106], [89414773, 89414960], [89418745, 89418835], [89420831, 89420908], [89426849, 89426970], [89427063, 89427189], [89427741, 89427828], [89430511, 89430661], [89434352, 89434497], [89435091, 89435147]]
Promoter
Chrom Start End Description
chr1 89458299 89458321 CAGE_peak_1_at_CCBL2_5end
chr1 89458335 89458346 CAGE_peak_3_at_CCBL2_5end
chr1 89458415 89458463 CAGE_peak_1_at_RBMXL1_5end,CAGE_peak_2_at_CCBL2_5end
chr1 89458476 89458490 CAGE_peak_5_at_CCBL2_5end
chr1 89458607 89458627 CAGE_peak_4_at_CCBL2_5end
chr1 89458651 89458685 CAGE_peak_2_at_RBMXL1_5end,CAGE_peak_6_at_CCBL2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I088611 88611568 88613865 0.54 [{'connected_gene': 'KYAT3', 'score': 15.56}, {'connected_gene': 'PKN2', 'score': 6.17}, {'connected_gene': 'LOC105378838', 'score': 0.77}, {'connected_gene': 'RPL36AP10', 'score': 0.29}, {'connected_gene': 'PKN2-AS1', 'score': 0.19}]
chr1 GH01I088722 88722847 88723081 0.22 [{'connected_gene': 'KYAT3', 'score': 31.47}, {'connected_gene': 'GC01M088742', 'score': 0.37}, {'connected_gene': 'GC01P088703', 'score': 0.37}, {'connected_gene': 'PKN2', 'score': 0.28}]
chr1 GH01I088776 88776238 88776367 0.2 [{'connected_gene': 'KYAT3', 'score': 8.21}, {'connected_gene': 'GC01M088742', 'score': 0.29}, {'connected_gene': 'GC01P088818', 'score': 0.26}, {'connected_gene': 'PKN2', 'score': 0.16}]
chr1 GH01I088772 88772690 88775893 0.89 [{'connected_gene': 'KYAT3', 'score': 7.32}, {'connected_gene': 'GC01M088742', 'score': 0.29}, {'connected_gene': 'GC01P088818', 'score': 0.26}, {'connected_gene': 'PKN2', 'score': 0.16}]
chr1 GH01I088990 88990547 88994566 2.49 [{'connected_gene': 'KYAT3', 'score': 550.77}, {'connected_gene': 'RBMXL1', 'score': 550.77}, {'connected_gene': 'GBP3', 'score': 86.11}, {'connected_gene': 'GBP5', 'score': 10.91}, {'connected_gene': 'GBP6', 'score': 10.8}, {'connected_gene': 'GBP7', 'score': 5.12}, {'connected_gene': 'PTGES3P1', 'score': 4.75}, {'connected_gene': 'GC01M088952', 'score': 0.28}]
chr1 GH01I088662 88661001 88661400 0.2 [{'connected_gene': 'KYAT3', 'score': 27.15}, {'connected_gene': 'GC01M088677', 'score': 0.37}, {'connected_gene': 'PKN2-AS1', 'score': 0.34}, {'connected_gene': 'LOC105378838', 'score': 0.25}]
chr1 GH01I088661 88661518 88663077 0.38 [{'connected_gene': 'KYAT3', 'score': 28.88}, {'connected_gene': 'GC01M088677', 'score': 0.37}, {'connected_gene': 'PKN2-AS1', 'score': 0.34}, {'connected_gene': 'LOC105378838', 'score': 0.25}]
chr1 GH01I088867 88867368 88868527 0.56 [{'connected_gene': 'KYAT3', 'score': 32.4}, {'connected_gene': 'LOC100130455', 'score': 11.7}, {'connected_gene': 'PKN2', 'score': 10.37}, {'connected_gene': 'GTF2B', 'score': 0.34}, {'connected_gene': 'GC01M088841', 'score': 0.31}]
chr1 GH01I088220 88220393 88222057 0.8 [{'connected_gene': 'KYAT3', 'score': 4.91}, {'connected_gene': 'GC01P088185', 'score': 0.28}, {'connected_gene': 'GC01P088266', 'score': 0.26}]
chr1 GH01I088682 88682334 88686789 2.11 [{'connected_gene': 'PKN2', 'score': 613.9}, {'connected_gene': 'PKN2-AS1', 'score': 550.77}, {'connected_gene': 'KYAT3', 'score': 54.13}, {'connected_gene': 'ELOCP19', 'score': 14.8}, {'connected_gene': 'LOC100130455', 'score': 11.27}, {'connected_gene': 'RBMXL1', 'score': 10.37}, {'connected_gene': 'PTGES3P1', 'score': 9.78}]
chr1 GH01I088889 88889569 88893602 2.42 [{'connected_gene': 'GTF2B', 'score': 550.77}, {'connected_gene': 'KYAT3', 'score': 65.83}, {'connected_gene': 'PKN2', 'score': 41.89}, {'connected_gene': 'ELOCP19', 'score': 13.9}, {'connected_gene': 'LOC100130455', 'score': 13.11}, {'connected_gene': 'PTGES3P1', 'score': 9.81}, {'connected_gene': 'RBMXL1', 'score': 4.45}, {'connected_gene': 'GC01M088841', 'score': 0.25}]
chr1 GH01I089354 89354201 89354600 0.66 [{'connected_gene': 'GBP2', 'score': 13.37}, {'connected_gene': 'GBP5', 'score': 10.15}, {'connected_gene': 'GBP1', 'score': 9.3}, {'connected_gene': 'GBP4', 'score': 7.52}, {'connected_gene': 'GTF2B', 'score': 5.81}, {'connected_gene': 'KYAT3', 'score': 2.76}, {'connected_gene': 'LRRC8C', 'score': 1.7}, {'connected_gene': 'GBP6', 'score': 0.44}, {'connected_gene': 'PIR56754', 'score': 0.39}]
chr1 GH01I089277 89277765 89280569 1.09 [{'connected_gene': 'GBP1', 'score': 35.51}, {'connected_gene': 'GBP5', 'score': 32.1}, {'connected_gene': 'GBP4', 'score': 29.22}, {'connected_gene': 'GBP2', 'score': 12.04}, {'connected_gene': 'LOC100421401', 'score': 10.69}, {'connected_gene': 'GBP7', 'score': 9.72}, {'connected_gene': 'GTF2B', 'score': 5.74}, {'connected_gene': 'LRRC8C', 'score': 2.83}, {'connected_gene': 'KYAT3', 'score': 1.73}, {'connected_gene': 'GBP3', 'score': 1.7}, {'connected_gene': 'GC01P089283', 'score': 0.77}]
chr1 GH01I088983 88983458 88986492 1 [{'connected_gene': 'GBP6', 'score': 10.73}, {'connected_gene': 'RBMXL1', 'score': 10.62}, {'connected_gene': 'GBP5', 'score': 10.42}, {'connected_gene': 'LOC100421401', 'score': 10.22}, {'connected_gene': 'KYAT3', 'score': 0.44}, {'connected_gene': 'GC01M088952', 'score': 0.29}]
chr1 GH01I089123 89123001 89123200 0.4 [{'connected_gene': 'GBP5', 'score': 11.24}, {'connected_gene': 'GBP2', 'score': 11.18}, {'connected_gene': 'GBP4', 'score': 10.97}, {'connected_gene': 'GBP7', 'score': 10.36}, {'connected_gene': 'KYAT3', 'score': 4.48}, {'connected_gene': 'LOC105378842', 'score': 0.44}, {'connected_gene': 'PTGES3P1', 'score': 0.37}]
chr1 GH01I088989 88989801 88990000 0.38 [{'connected_gene': 'GBP5', 'score': 10.91}, {'connected_gene': 'GBP6', 'score': 10.8}, {'connected_gene': 'KYAT3', 'score': 0.77}, {'connected_gene': 'RBMXL1', 'score': 0.77}, {'connected_gene': 'GC01M088952', 'score': 0.28}]
chr1 GH01I088998 88998818 88998967 0.57 [{'connected_gene': 'GC01P089002', 'score': 0.77}, {'connected_gene': 'KYAT3', 'score': 0.44}, {'connected_gene': 'RBMXL1', 'score': 0.44}]
chr1 GH01I089001 89001251 89001492 0.26 [{'connected_gene': 'GC01P089002', 'score': 550.77}, {'connected_gene': 'GBP3', 'score': 24.37}, {'connected_gene': 'GBP5', 'score': 10.39}, {'connected_gene': 'GBP7', 'score': 9.74}, {'connected_gene': 'GTF2B', 'score': 1.37}, {'connected_gene': 'GBP2', 'score': 1.26}, {'connected_gene': 'KYAT3', 'score': 0.44}, {'connected_gene': 'RBMXL1', 'score': 0.44}]
chr1 GH01I088936 88936118 88936135 0.56 [{'connected_gene': 'GC01M088909', 'score': 0.44}, {'connected_gene': 'LOC100130455', 'score': 0.39}, {'connected_gene': 'KYAT3', 'score': 0.22}]