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
ENST00000515673 [[141780960, 141789533], [141832297, 141832508], [141847130, 141847227], [141868807, 141868890], [141870454, 141870526], [141888776, 141889027], [142053478, 142053996]] [[141789414, 141789533], [141832297, 141832508], [141847130, 141847227], [141868807, 141868890], [141870454, 141870526], [141888776, 141889027], [142053478, 142053962]]
ENST00000379512 [[141786724, 141789533], [141832297, 141832508], [141847130, 141847227], [141868807, 141868890], [141870454, 141870526], [141888776, 141889027], [141974819, 141974880]] [[141789414, 141789533], [141832297, 141832508], [141847130, 141847227], [141868807, 141868890], [141870454, 141870526], [141888776, 141889027], [141974819, 141974880]]
ENST00000306799 [[141786724, 141789533], [141832297, 141832508], [141847130, 141847227], [141868807, 141868890], [141870454, 141870526], [141888902, 141889027], [142053478, 142054616]] [[141789414, 141789533], [141832297, 141832508], [141847130, 141847227], [141868807, 141868890], [141870454, 141870526], [141888902, 141889027], [142053478, 142053962]]
ENST00000420921 [[141786724, 141789533], [141832297, 141832508], [141847130, 141847227], [141868807, 141868890], [141870454, 141870526], [141888776, 141889027], [141974819, 141974885], [142133947, 142134031]] [[141789414, 141789533], [141832297, 141832508], [141847130, 141847227], [141868807, 141868890], [141870454, 141870526], [141888776, 141889027], [141974819, 141974880]]
ENST00000507500 [[141832206, 141832508], [141847130, 141847227], [141868807, 141868890], [141870454, 141870526], [141888776, 141889027], [142053478, 142054203]] [[141832277, 141832508], [141847130, 141847227], [141868807, 141868890], [141870454, 141870526], [141888776, 141889027], [142053478, 142053962]]
ENST00000506101 [[141832297, 141832508], [141847130, 141847227], [141868807, 141868890], [141870454, 141870526], [141888776, 141889027], [141918111, 141918190]] [[141832297, 141832508], [141847130, 141847227], [141868807, 141868890], [141870454, 141870526], [141888776, 141889004]]
ENST00000515057 [[141865702, 141865964], [141868807, 141868890], [141870454, 141870526], [141888776, 141889024]] None
NM_020724 [[141786724, 141789533], [141832297, 141832508], [141847130, 141847227], [141868807, 141868890], [141870454, 141870526], [141888776, 141889027], [142053478, 142054616]] [[141789414, 141789533], [141832297, 141832508], [141847130, 141847227], [141868807, 141868890], [141870454, 141870526], [141888776, 141889027], [142053478, 142053962]]
Promoter
Chrom Start End Description
chr4 142053722 142053729 CAGE_peak_10_at_RNF150_5end
chr4 142053952 142053977 CAGE_peak_2_at_RNF150_5end
chr4 142054424 142054435 CAGE_peak_9_at_RNF150_5end
chr4 142054469 142054497 CAGE_peak_4_at_RNF150_5end
chr4 142054498 142054547 CAGE_peak_3_at_RNF150_5end
chr4 142054563 142054577 CAGE_peak_6_at_RNF150_5end
chr4 142054590 142054648 CAGE_peak_1_at_RNF150_5end
chr4 142054674 142054686 CAGE_peak_7_at_RNF150_5end
chr4 142133987 142133994 CAGE_peak_15_at_RNF150_5end
chr4 142134015 142134022 CAGE_peak_14_at_RNF150_5end
chr4 142134039 142134066 CAGE_peak_5_at_RNF150_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I141131 141131242 141135075 1.95 [{'connected_gene': 'RNF150', 'score': 550.18}, {'connected_gene': 'ZNF330', 'score': 16.35}, {'connected_gene': 'ELMOD2', 'score': 15.32}, {'connected_gene': 'MAML3', 'score': 10.5}, {'connected_gene': 'GC04M141077', 'score': 0.26}, {'connected_gene': 'GC04P141205', 'score': 0.19}]
chr4 GH04I141027 141027844 141028996 0.64 [{'connected_gene': 'RNF150', 'score': 4.7}, {'connected_gene': 'GC04P141077', 'score': 0.25}, {'connected_gene': 'GC04P140945', 'score': 0.18}]
chr4 GH04I141105 141105169 141105239 0.22 [{'connected_gene': 'RNF150', 'score': 2.72}, {'connected_gene': 'GC04M141077', 'score': 0.39}, {'connected_gene': 'GC04P141205', 'score': 0.15}]
chr4 GH04I140880 140880503 140880611 0.22 [{'connected_gene': 'RNF150', 'score': 2.5}, {'connected_gene': 'GC04P140867', 'score': 0.39}, {'connected_gene': 'GC04P140911', 'score': 0.29}]
chr4 GH04I141045 141045847 141047405 0.8 [{'connected_gene': 'RNF150', 'score': 4.11}, {'connected_gene': 'GC04P141077', 'score': 0.29}, {'connected_gene': 'GC04P140945', 'score': 0.15}]
chr4 GH04I140236 140236524 140239677 1.2 [{'connected_gene': 'MAML3', 'score': 12.78}, {'connected_gene': 'RNF150', 'score': 10.35}, {'connected_gene': 'SCOC', 'score': 0.37}]
chr4 GH04I141139 141139802 141141755 0.2 [{'connected_gene': 'ZNF330', 'score': 6.89}, {'connected_gene': 'GC04M141077', 'score': 0.23}, {'connected_gene': 'GC04P141205', 'score': 0.21}, {'connected_gene': 'RNF150', 'score': 0.19}]
chr4 GH04I141143 141143608 141143735 0.22 [{'connected_gene': 'ZNF330', 'score': 6.45}, {'connected_gene': 'GC04M141077', 'score': 0.23}, {'connected_gene': 'GC04P141205', 'score': 0.21}, {'connected_gene': 'RNF150', 'score': 0.2}]
chr4 GH04I140937 140937662 140938805 0.52 [{'connected_gene': 'GC04P140945', 'score': 0.44}, {'connected_gene': 'GC04P140911', 'score': 0.31}, {'connected_gene': 'RNF150', 'score': 0.06}]
chr4 GH04I141020 141020373 141021503 0.38 [{'connected_gene': 'GC04P141077', 'score': 0.22}, {'connected_gene': 'GC04P140945', 'score': 0.18}, {'connected_gene': 'RNF150', 'score': 0.08}]
chr4 GH04I140942 140942827 140944992 0.38 [{'connected_gene': 'GC04P140945', 'score': 550.77}, {'connected_gene': 'GC04P140911', 'score': 0.29}, {'connected_gene': 'RNF150', 'score': 0.06}]
chr4 GH04I141127 141127001 141127200 0.2 [{'connected_gene': 'GC04M141077', 'score': 0.28}, {'connected_gene': 'GC04P141205', 'score': 0.18}, {'connected_gene': 'RNF150', 'score': 0.17}]
chr4 GH04I140863 140863201 140863600 0.2 [{'connected_gene': 'ENSG00000248335', 'score': 10.47}, {'connected_gene': 'GC04P140867', 'score': 0.77}, {'connected_gene': 'GC04P140811', 'score': 0.23}, {'connected_gene': 'RNF150', 'score': 0.05}]
chr4 GH04I141002 141002600 141002801 0.2 [{'connected_gene': 'GC04P140945', 'score': 0.22}, {'connected_gene': 'GC04P141077', 'score': 0.19}, {'connected_gene': 'RNF150', 'score': 0.08}]
chr4 GH04I140976 140976552 140976664 0.34 [{'connected_gene': 'GC04P140945', 'score': 0.29}, {'connected_gene': 'GC04P141077', 'score': 0.15}, {'connected_gene': 'RNF150', 'score': 0.07}]
chr4 GH04I141028 141027559 141027656 0.52 [{'connected_gene': 'GC04P141077', 'score': 0.25}, {'connected_gene': 'GC04P140945', 'score': 0.18}, {'connected_gene': 'RNF150', 'score': 0.09}]
chr4 GH04I141130 141130402 141130999 0.2 [{'connected_gene': 'GC04M141077', 'score': 0.26}, {'connected_gene': 'GC04P141205', 'score': 0.18}, {'connected_gene': 'RNF150', 'score': 0.18}]
chr4 GH04I141058 141058528 141059876 0.2 [{'connected_gene': 'GC04P141077', 'score': 0.37}, {'connected_gene': 'GC04P140945', 'score': 0.14}, {'connected_gene': 'RNF150', 'score': 0.1}]
chr4 GH04I141102 141102387 141102576 0.62 [{'connected_gene': 'GC04M141077', 'score': 0.39}, {'connected_gene': 'GC04P141077', 'score': 0.34}, {'connected_gene': 'GC04P141205', 'score': 0.15}, {'connected_gene': 'RNF150', 'score': 0.14}]
chr4 GH04I140893 140893987 140894136 0.38 [{'connected_gene': 'GC04P140911', 'score': 0.37}, {'connected_gene': 'GC04P140867', 'score': 0.31}, {'connected_gene': 'RNF150', 'score': 0.06}]