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
ENST00000514815 [[108511432, 108511554], [108552786, 108552960]] None
ENST00000265174 [[108534821, 108535543], [108552786, 108553016], [108565957, 108566226], [108574646, 108574782], [108575850, 108576056], [108578051, 108578163], [108581114, 108581228], [108603170, 108603289], [108608194, 108608333], [108614926, 108615162], [108622326, 108622441], [108641275, 108641608]] [[108535404, 108535543], [108552786, 108553016], [108565957, 108566226], [108574646, 108574782], [108575850, 108576056], [108578051, 108578163], [108581114, 108581228], [108603170, 108603289], [108608194, 108608333], [108614926, 108615162], [108622326, 108622441], [108641275, 108641335]]
ENST00000511304 [[108574648, 108574782], [108575850, 108576056], [108578051, 108578163], [108581114, 108581228], [108603170, 108603289], [108608194, 108608333], [108641275, 108641378]] None
ENST00000502431 [[108581115, 108581228], [108603170, 108603289], [108608194, 108608333], [108614926, 108615162], [108622326, 108622441], [108640998, 108641179]] None
ENST00000514489 [[108608267, 108608333], [108614926, 108615162], [108622326, 108622441], [108639497, 108639552], [108641275, 108641382]] None
ENST00000506544 [[108608284, 108608333], [108614926, 108615454]] None
ENST00000512641 [[108614925, 108615162], [108622326, 108622441], [108641159, 108641273]] None
ENST00000504987 [[108614995, 108615162], [108622326, 108622441], [108641159, 108641369]] None
NM_005443 [[108534821, 108535543], [108552786, 108553016], [108565957, 108566226], [108574646, 108574782], [108575850, 108576056], [108578051, 108578163], [108581114, 108581228], [108603170, 108603289], [108608194, 108608333], [108614926, 108615162], [108622326, 108622441], [108641275, 108641419]] [[108535404, 108535543], [108552786, 108553016], [108565957, 108566226], [108574646, 108574782], [108575850, 108576056], [108578051, 108578163], [108581114, 108581228], [108603170, 108603289], [108608194, 108608333], [108614926, 108615162], [108622326, 108622441], [108641275, 108641335]]
Promoter
Chrom Start End Description
chr4 108641066 108641110 CAGE_peak_2_at_PAPSS1_5end
chr4 108641345 108641431 CAGE_peak_1_at_PAPSS1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I107808 107808368 107809938 0.2 [{'connected_gene': 'PAPSS1', 'score': 16.37}, {'connected_gene': 'RPL34', 'score': 4.86}, {'connected_gene': 'SGMS2', 'score': 4.86}, {'connected_gene': 'GC04P107803', 'score': 0.44}]
chr4 GH04I107913 107913201 107913401 0.69 [{'connected_gene': 'PAPSS1', 'score': 10.54}, {'connected_gene': 'RPL34-AS1', 'score': 4.96}, {'connected_gene': 'CYP2U1', 'score': 0.37}, {'connected_gene': 'RNU6-733P', 'score': 0.25}, {'connected_gene': 'LOC101929595', 'score': 0.2}, {'connected_gene': 'SGMS2', 'score': 0.17}]
chr4 GH04I107830 107830323 107831599 0.38 [{'connected_gene': 'PAPSS1', 'score': 9.83}, {'connected_gene': 'SGMS2', 'score': 0.44}, {'connected_gene': 'GC04P107803', 'score': 0.31}, {'connected_gene': 'RNU6-733P', 'score': 0.28}]
chr4 GH04I107623 107623584 107623958 0.22 [{'connected_gene': 'PAPSS1', 'score': 4.46}, {'connected_gene': 'SGMS2', 'score': 3.14}, {'connected_gene': 'LOC105377358', 'score': 0.29}, {'connected_gene': 'GC04P107697', 'score': 0.19}]
chr4 GH04I107792 107792992 107794774 0.31 [{'connected_gene': 'PAPSS1', 'score': 10.57}, {'connected_gene': 'SGMS2', 'score': 6.45}, {'connected_gene': 'GC04P107803', 'score': 0.39}, {'connected_gene': 'GC04P107734', 'score': 0.21}]
chr4 GH04I107709 107709602 107710800 0.97 [{'connected_gene': 'PAPSS1', 'score': 14.77}, {'connected_gene': 'SGMS2', 'score': 6.36}, {'connected_gene': 'GC04P107697', 'score': 0.39}]
chr4 GH04I107817 107817631 107819588 0.54 [{'connected_gene': 'PAPSS1', 'score': 10.23}, {'connected_gene': 'SGMS2', 'score': 5.01}, {'connected_gene': 'GC04P107803', 'score': 0.39}]
chr4 GH04I107914 107913405 107913554 0.7 [{'connected_gene': 'PAPSS1', 'score': 10.54}, {'connected_gene': 'CYP2U1', 'score': 0.37}, {'connected_gene': 'RNU6-733P', 'score': 0.25}, {'connected_gene': 'LOC101929595', 'score': 0.2}, {'connected_gene': 'SGMS2', 'score': 0.17}]
chr4 GH04I107739 107739916 107741931 0.89 [{'connected_gene': 'PAPSS1', 'score': 34.66}, {'connected_gene': 'CYP2U1', 'score': 12.86}, {'connected_gene': 'GC04P107734', 'score': 0.44}, {'connected_gene': 'GC04P107803', 'score': 0.21}]
chr4 GH04I107624 107624187 107626436 0.57 [{'connected_gene': 'PAPSS1', 'score': 6.25}, {'connected_gene': 'LOC105377358', 'score': 0.29}, {'connected_gene': 'GC04P107697', 'score': 0.19}]
chr4 GH04I107617 107617800 107621192 0.51 [{'connected_gene': 'PAPSS1', 'score': 6.46}, {'connected_gene': 'LOC105377358', 'score': 0.31}, {'connected_gene': 'GC04P107697', 'score': 0.18}]
chr4 GH04I107683 107683985 107684114 0.68 [{'connected_gene': 'PAPSS1', 'score': 17.24}, {'connected_gene': 'GC04P107697', 'score': 0.39}, {'connected_gene': 'LOC105377358', 'score': 0.16}]
chr4 GH04I107692 107692890 107694129 0.94 [{'connected_gene': 'PAPSS1', 'score': 62.57}, {'connected_gene': 'GC04P107697', 'score': 0.77}, {'connected_gene': 'LOC105377358', 'score': 0.15}]
chr4 GH04I107689 107689766 107691150 0.59 [{'connected_gene': 'PAPSS1', 'score': 24.31}, {'connected_gene': 'GC04P107697', 'score': 0.44}, {'connected_gene': 'LOC105377358', 'score': 0.15}]
chr4 GH04I107718 107718465 107721971 1.99 [{'connected_gene': 'PAPSS1', 'score': 586.48}, {'connected_gene': 'GC04P107697', 'score': 0.34}]
chr4 GH04I107725 107725098 107726177 0.43 [{'connected_gene': 'PAPSS1', 'score': 21.12}, {'connected_gene': 'GC04P107728', 'score': 0.77}]
chr4 GH04I107823 107823593 107828573 2.15 [{'connected_gene': 'SGMS2', 'score': 550.77}, {'connected_gene': 'PAPSS1', 'score': 11.96}, {'connected_gene': 'GC04P107803', 'score': 0.34}, {'connected_gene': 'RNU6-733P', 'score': 0.26}]
chr4 GH04I107799 107799348 107801301 0.51 [{'connected_gene': 'SGMS2', 'score': 18.49}, {'connected_gene': 'PAPSS1', 'score': 16.36}, {'connected_gene': 'LOC101929595', 'score': 10.11}, {'connected_gene': 'GC04P107803', 'score': 0.77}, {'connected_gene': 'GC04P107734', 'score': 0.2}]
chr4 GH04I107801 107801391 107802534 0.43 [{'connected_gene': 'SGMS2', 'score': 19.11}, {'connected_gene': 'PAPSS1', 'score': 13.21}, {'connected_gene': 'GC04P107803', 'score': 0.77}, {'connected_gene': 'GC04P107734', 'score': 0.2}]
chr4 GH04I107632 107632635 107633816 0.72 [{'connected_gene': 'CYP2U1', 'score': 4.78}, {'connected_gene': 'PAPSS1', 'score': 4.75}, {'connected_gene': 'LOC105377358', 'score': 0.26}, {'connected_gene': 'GC04P107697', 'score': 0.21}]
chr4 GH04I107906 107906685 107906834 0.38 [{'connected_gene': 'CYP2U1', 'score': 12.4}, {'connected_gene': 'LOC101929595', 'score': 12.25}, {'connected_gene': 'PAPSS1', 'score': 10.43}, {'connected_gene': 'RNU6-733P', 'score': 0.28}, {'connected_gene': 'SGMS2', 'score': 0.18}]
chr4 GH04I107599 107599420 107601628 0.31 [{'connected_gene': 'LOC105377358', 'score': 0.39}, {'connected_gene': 'LOC105377357', 'score': 0.34}, {'connected_gene': 'GC04P107697', 'score': 0.15}, {'connected_gene': 'PAPSS1', 'score': 0.13}]
chr4 GH04I107694 107694365 107694500 0.2 [{'connected_gene': 'GC04P107697', 'score': 550.77}, {'connected_gene': 'PAPSS1', 'score': 12.46}, {'connected_gene': 'LOC105377358', 'score': 0.15}]