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
ENST00000354577 [[131895105, 131895435], [131908848, 131908986], [131910604, 131910736], [131911461, 131911582], [131912452, 131912667], [131913527, 131913600], [131914145, 131914311], [131915238, 131915475], [131917086, 131917303], [131917657, 131917828], [131919426, 131919607], [131919695, 131919901], [131921177, 131921302], [131923357, 131923521], [131924169, 131924344], [131925317, 131925460], [131926379, 131926625], [131927618, 131927764], [131929067, 131929211], [131931185, 131931386], [131936463, 131936481], [131937046, 131937142], [131939546, 131939659], [131940966, 131941036], [131941767, 131941869], [131943020, 131943119], [131944490, 131944602], [131946004, 131946129], [131948535, 131948623], [131948780, 131948812], [131949150, 131949345]] [[131895432, 131895435], [131908848, 131908986], [131910604, 131910736], [131911461, 131911582], [131912452, 131912667], [131913527, 131913600], [131914145, 131914311], [131915238, 131915475], [131917086, 131917303], [131917657, 131917828], [131919426, 131919607], [131919695, 131919901], [131921177, 131921302], [131923357, 131923521], [131924169, 131924344], [131925317, 131925460], [131926379, 131926625], [131927618, 131927764], [131929067, 131929211], [131931185, 131931386], [131936463, 131936481], [131937046, 131937142], [131939546, 131939659], [131940966, 131941036], [131941767, 131941869], [131943020, 131943119], [131944490, 131944602], [131946004, 131946129], [131948535, 131948623], [131948780, 131948812], [131949150, 131949189]]
ENST00000403834 [[131907872, 131908986], [131910604, 131910736], [131911461, 131911582], [131912452, 131912667], [131913527, 131913600], [131914145, 131914311], [131915238, 131915475], [131917086, 131917303], [131917657, 131917828], [131919426, 131919607], [131919695, 131919901], [131921177, 131921302], [131923357, 131923521], [131924169, 131924344], [131925317, 131925460], [131926379, 131926625], [131927618, 131927764], [131929067, 131929211], [131931185, 131931404], [131937046, 131937142], [131939546, 131939659], [131940966, 131941036], [131941767, 131941869], [131943020, 131943119], [131944490, 131944602], [131946004, 131946129], [131948535, 131948623], [131948780, 131948812], [131949150, 131949363]] [[131908818, 131908986], [131910604, 131910736], [131911461, 131911582], [131912452, 131912667], [131913527, 131913600], [131914145, 131914311], [131915238, 131915475], [131917086, 131917303], [131917657, 131917828], [131919426, 131919607], [131919695, 131919901], [131921177, 131921302], [131923357, 131923521], [131924169, 131924344], [131925317, 131925460], [131926379, 131926625], [131927618, 131927764], [131929067, 131929211], [131931185, 131931404], [131937046, 131937142], [131939546, 131939659], [131940966, 131941036], [131941767, 131941869], [131943020, 131943119], [131944490, 131944602], [131946004, 131946129], [131948535, 131948623], [131948780, 131948812], [131949150, 131949189]]
ENST00000368068 [[131907872, 131908986], [131910604, 131910736], [131911461, 131911582], [131912452, 131912667], [131913527, 131913600], [131914145, 131914311], [131915238, 131915475], [131917086, 131917303], [131917657, 131917828], [131919426, 131919607], [131919695, 131919901], [131921177, 131921302], [131923357, 131923521], [131924169, 131924344], [131925317, 131925460], [131926379, 131926625], [131927618, 131927764], [131929067, 131929211], [131931185, 131931386], [131937046, 131937142], [131939546, 131939659], [131940966, 131941036], [131941767, 131941869], [131943020, 131943119], [131944490, 131944602], [131946004, 131946129], [131948535, 131948623], [131948780, 131948812], [131949150, 131949369]] [[131908818, 131908986], [131910604, 131910736], [131911461, 131911582], [131912452, 131912667], [131913527, 131913600], [131914145, 131914311], [131915238, 131915475], [131917086, 131917303], [131917657, 131917828], [131919426, 131919607], [131919695, 131919901], [131921177, 131921302], [131923357, 131923521], [131924169, 131924344], [131925317, 131925460], [131926379, 131926625], [131927618, 131927764], [131929067, 131929211], [131931185, 131931386], [131937046, 131937142], [131939546, 131939659], [131940966, 131941036], [131941767, 131941869], [131943020, 131943119], [131944490, 131944602], [131946004, 131946129], [131948535, 131948623], [131948780, 131948812], [131949150, 131949189]]
ENST00000479213 [[131907877, 131908986], [131910604, 131910736], [131911461, 131911582], [131912452, 131912667], [131913527, 131914311], [131915238, 131915475], [131917086, 131917661]] None
ENST00000368060 [[131907888, 131908077], [131908848, 131908986], [131910604, 131910736], [131911461, 131911582], [131912452, 131912667], [131913527, 131913600], [131914145, 131914311], [131915238, 131915475], [131917086, 131917303], [131917657, 131917828], [131919426, 131919607], [131919695, 131919901], [131921177, 131921302], [131923357, 131923521], [131924169, 131924344], [131925317, 131925460], [131926379, 131926625], [131927618, 131927764], [131929067, 131929211], [131931185, 131931386], [131937046, 131937142], [131939546, 131939659], [131940966, 131941036], [131941767, 131941869], [131943020, 131943119], [131944490, 131944602], [131946004, 131946129], [131948535, 131948623], [131948780, 131948812], [131949150, 131949369]] [[131908059, 131908077], [131908848, 131908986], [131910604, 131910736], [131911461, 131911582], [131912452, 131912667], [131913527, 131913600], [131914145, 131914311], [131915238, 131915475], [131917086, 131917303], [131917657, 131917828], [131919426, 131919607], [131919695, 131919901], [131921177, 131921302], [131923357, 131923521], [131924169, 131924344], [131925317, 131925460], [131926379, 131926625], [131927618, 131927764], [131929067, 131929211], [131931185, 131931386], [131937046, 131937142], [131939546, 131939659], [131940966, 131941036], [131941767, 131941869], [131943020, 131943119], [131944490, 131944602], [131946004, 131946129], [131948535, 131948623], [131948780, 131948812], [131949150, 131949189]]
ENST00000368058 [[131908384, 131908982], [131910600, 131910736], [131911461, 131911582], [131912452, 131912667], [131913527, 131913600], [131914145, 131914311], [131915238, 131915475], [131917086, 131917303], [131917657, 131917828], [131919426, 131919607], [131919695, 131919901], [131921177, 131921302], [131923357, 131923521], [131924169, 131924344], [131925317, 131925460], [131926379, 131926625], [131927618, 131927764], [131929067, 131929211], [131931185, 131931386], [131936463, 131936481], [131937046, 131937142], [131939546, 131939659], [131940966, 131941036], [131941767, 131941869], [131943020, 131943119], [131944490, 131944602], [131946004, 131946129], [131948535, 131948623], [131948780, 131948812], [131949150, 131949206]] [[131908818, 131908982], [131910600, 131910736], [131911461, 131911582], [131912452, 131912667], [131913527, 131913600], [131914145, 131914311], [131915238, 131915475], [131917086, 131917303], [131917657, 131917828], [131919426, 131919607], [131919695, 131919901], [131921177, 131921302], [131923357, 131923521], [131924169, 131924344], [131925317, 131925460], [131926379, 131926625], [131927618, 131927764], [131929067, 131929211], [131931185, 131931386], [131936463, 131936481], [131937046, 131937142], [131939546, 131939659], [131940966, 131941036], [131941767, 131941869], [131943020, 131943119], [131944490, 131944602], [131946004, 131946129], [131948535, 131948623], [131948780, 131948812], [131949150, 131949189]]
ENST00000545957 [[131908564, 131908986], [131910604, 131910736], [131911461, 131911582], [131912452, 131912667], [131913527, 131913600], [131914145, 131914311], [131915238, 131915475], [131917086, 131917303], [131917657, 131917828], [131919426, 131919607], [131919695, 131919901], [131921177, 131921302], [131923357, 131923521], [131924169, 131924344], [131925317, 131925460], [131926379, 131926625], [131927618, 131927764], [131931185, 131931335]] [[131908818, 131908986], [131910604, 131910736], [131911461, 131911582], [131912452, 131912667], [131913527, 131913600], [131914145, 131914311], [131915238, 131915475], [131917086, 131917303], [131917657, 131917828], [131919426, 131919607], [131919695, 131919901], [131921177, 131921302], [131923357, 131923521], [131924169, 131924344], [131925317, 131925460], [131926379, 131926625], [131927618, 131927764], [131931185, 131931329]]
ENST00000484885 [[131911549, 131911582], [131912452, 131913124]] None
ENST00000368053 [[131919390, 131919607], [131919695, 131919901], [131921177, 131921302], [131923357, 131923521], [131924169, 131924344], [131925317, 131925460], [131926379, 131926625], [131927618, 131927764], [131929067, 131929211], [131931185, 131931386], [131936463, 131936481], [131937046, 131937142], [131939546, 131939659], [131940966, 131941036], [131941767, 131941869], [131943020, 131943119], [131944490, 131944602], [131946004, 131946129], [131948535, 131948623], [131948780, 131948812], [131949150, 131949339]] [[131919390, 131919607], [131919695, 131919901], [131921177, 131921302], [131923357, 131923521], [131924169, 131924344], [131925317, 131925460], [131926379, 131926625], [131927618, 131927764], [131929067, 131929211], [131931185, 131931386], [131936463, 131936481], [131937046, 131937142], [131939546, 131939659], [131940966, 131941036], [131941767, 131941869], [131943020, 131943119], [131944490, 131944602], [131946004, 131946129], [131948535, 131948623], [131948780, 131948812], [131949150, 131949189]]
ENST00000540546 [[131919390, 131919607], [131919695, 131919901], [131921177, 131921302], [131923357, 131923521], [131924169, 131924344], [131925317, 131925460], [131926379, 131926625], [131927618, 131927764], [131929067, 131929211], [131931185, 131931386], [131936839, 131936852], [131937041, 131937142], [131939546, 131939659], [131940966, 131941036], [131941767, 131941869], [131943020, 131943119], [131944490, 131944602], [131946004, 131946129], [131948535, 131948623], [131948780, 131948812], [131949150, 131949363]] [[131919390, 131919607], [131919695, 131919901], [131921177, 131921302], [131923357, 131923521], [131924169, 131924344], [131925317, 131925460], [131926379, 131926625], [131927618, 131927764], [131929067, 131929211], [131931185, 131931386], [131936839, 131936852], [131937041, 131937142], [131939546, 131939659], [131940966, 131941036], [131941767, 131941869], [131943020, 131943119], [131944490, 131944602], [131946004, 131946129], [131948535, 131948623], [131948780, 131948812], [131949150, 131949189]]
ENST00000539158 [[131923438, 131923521], [131924169, 131924344], [131927618, 131927764], [131929067, 131929211], [131931185, 131931386], [131937046, 131937142], [131939546, 131939659], [131940966, 131941036], [131941767, 131941869], [131943020, 131943119], [131944490, 131944602], [131946004, 131946129], [131948535, 131948623], [131948780, 131948812], [131949150, 131949200]] [[131924283, 131924344], [131927618, 131927764], [131929067, 131929211], [131931185, 131931386], [131937046, 131937142], [131939546, 131939659], [131940966, 131941036], [131941767, 131941869], [131943020, 131943119], [131944490, 131944602], [131946004, 131946129], [131948535, 131948623], [131948780, 131948812], [131949150, 131949189]]
ENST00000489888 [[131948100, 131948623], [131948780, 131948812], [131949150, 131949340]] None
NM_015979 [[131895105, 131895435], [131908848, 131908986], [131910604, 131910736], [131911461, 131911582], [131912452, 131912667], [131913527, 131913600], [131914145, 131914311], [131915238, 131915475], [131917086, 131917303], [131917657, 131917828], [131919426, 131919607], [131919695, 131919901], [131921177, 131921302], [131923357, 131923521], [131924169, 131924344], [131925317, 131925460], [131926379, 131926625], [131927618, 131927764], [131929067, 131929211], [131931185, 131931386], [131936463, 131936481], [131937046, 131937142], [131939546, 131939659], [131940966, 131941036], [131941767, 131941869], [131943020, 131943119], [131944490, 131944602], [131946004, 131946129], [131948535, 131948623], [131948780, 131948812], [131949150, 131949379]] [[131895432, 131895435], [131908848, 131908986], [131910604, 131910736], [131911461, 131911582], [131912452, 131912667], [131913527, 131913600], [131914145, 131914311], [131915238, 131915475], [131917086, 131917303], [131917657, 131917828], [131919426, 131919607], [131919695, 131919901], [131921177, 131921302], [131923357, 131923521], [131924169, 131924344], [131925317, 131925460], [131926379, 131926625], [131927618, 131927764], [131929067, 131929211], [131931185, 131931386], [131936463, 131936481], [131937046, 131937142], [131939546, 131939659], [131940966, 131941036], [131941767, 131941869], [131943020, 131943119], [131944490, 131944602], [131946004, 131946129], [131948535, 131948623], [131948780, 131948812], [131949150, 131949189]]
NM_001270521 [[131895105, 131895435], [131908848, 131908986], [131910604, 131910736], [131911461, 131911582], [131912452, 131912667], [131913527, 131913600], [131914145, 131914311], [131915238, 131915475], [131917086, 131917303], [131917657, 131917828], [131919426, 131919607], [131919695, 131919901], [131921177, 131921302], [131923357, 131923521], [131924169, 131924344], [131925317, 131925460], [131926379, 131926625], [131927618, 131927764], [131929067, 131929211], [131931185, 131931386], [131937046, 131937142], [131939546, 131939659], [131940966, 131941036], [131941767, 131941869], [131943020, 131943119], [131944490, 131944602], [131946004, 131946129], [131948535, 131948623], [131948780, 131948812], [131949150, 131949379]] [[131895432, 131895435], [131908848, 131908986], [131910604, 131910736], [131911461, 131911582], [131912452, 131912667], [131913527, 131913600], [131914145, 131914311], [131915238, 131915475], [131917086, 131917303], [131917657, 131917828], [131919426, 131919607], [131919695, 131919901], [131921177, 131921302], [131923357, 131923521], [131924169, 131924344], [131925317, 131925460], [131926379, 131926625], [131927618, 131927764], [131929067, 131929211], [131931185, 131931386], [131937046, 131937142], [131939546, 131939659], [131940966, 131941036], [131941767, 131941869], [131943020, 131943119], [131944490, 131944602], [131946004, 131946129], [131948535, 131948623], [131948780, 131948812], [131949150, 131949189]]
NM_004830 [[131907877, 131908986], [131910604, 131910736], [131911461, 131911582], [131912452, 131912667], [131913527, 131913600], [131914145, 131914311], [131915238, 131915475], [131917086, 131917303], [131917657, 131917828], [131919426, 131919607], [131919695, 131919901], [131921177, 131921302], [131923357, 131923521], [131924169, 131924344], [131925317, 131925460], [131926379, 131926625], [131927618, 131927764], [131929067, 131929211], [131931185, 131931386], [131937046, 131937142], [131939546, 131939659], [131940966, 131941036], [131941767, 131941869], [131943020, 131943119], [131944490, 131944602], [131946004, 131946129], [131948535, 131948623], [131948780, 131948812], [131949150, 131949379]] [[131908818, 131908986], [131910604, 131910736], [131911461, 131911582], [131912452, 131912667], [131913527, 131913600], [131914145, 131914311], [131915238, 131915475], [131917086, 131917303], [131917657, 131917828], [131919426, 131919607], [131919695, 131919901], [131921177, 131921302], [131923357, 131923521], [131924169, 131924344], [131925317, 131925460], [131926379, 131926625], [131927618, 131927764], [131929067, 131929211], [131931185, 131931386], [131937046, 131937142], [131939546, 131939659], [131940966, 131941036], [131941767, 131941869], [131943020, 131943119], [131944490, 131944602], [131946004, 131946129], [131948535, 131948623], [131948780, 131948812], [131949150, 131949189]]
NM_001270522 [[131907877, 131908077], [131908848, 131908986], [131910604, 131910736], [131911461, 131911582], [131912452, 131912667], [131913527, 131913600], [131914145, 131914311], [131915238, 131915475], [131917086, 131917303], [131917657, 131917828], [131919426, 131919607], [131919695, 131919901], [131921177, 131921302], [131923357, 131923521], [131924169, 131924344], [131925317, 131925460], [131926379, 131926625], [131927618, 131927764], [131929067, 131929211], [131931185, 131931386], [131937046, 131937142], [131939546, 131939659], [131940966, 131941036], [131941767, 131941869], [131943020, 131943119], [131944490, 131944602], [131946004, 131946129], [131948535, 131948623], [131948780, 131948812], [131949150, 131949379]] [[131908059, 131908077], [131908848, 131908986], [131910604, 131910736], [131911461, 131911582], [131912452, 131912667], [131913527, 131913600], [131914145, 131914311], [131915238, 131915475], [131917086, 131917303], [131917657, 131917828], [131919426, 131919607], [131919695, 131919901], [131921177, 131921302], [131923357, 131923521], [131924169, 131924344], [131925317, 131925460], [131926379, 131926625], [131927618, 131927764], [131929067, 131929211], [131931185, 131931386], [131937046, 131937142], [131939546, 131939659], [131940966, 131941036], [131941767, 131941869], [131943020, 131943119], [131944490, 131944602], [131946004, 131946129], [131948535, 131948623], [131948780, 131948812], [131949150, 131949189]]
Promoter
Chrom Start End Description
chr6 131949244 131949299 CAGE_peak_2_at_MED23_5end
chr6 131949305 131949389 CAGE_peak_1_at_MED23_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I131274 131274496 131274626 0.23 [{'connected_gene': 'AKAP7', 'score': 6.46}, {'connected_gene': 'MED23', 'score': 3.2}, {'connected_gene': 'LOC100421246', 'score': 0.17}, {'connected_gene': 'LOC105378005', 'score': 0.1}]
chr6 GH06I131273 131273046 131273348 0.28 [{'connected_gene': 'AKAP7', 'score': 5.5}, {'connected_gene': 'MED23', 'score': 3.18}, {'connected_gene': 'LOC100421246', 'score': 0.17}, {'connected_gene': 'LOC105378005', 'score': 0.09}]
chr6 GH06I131627 131627104 131629128 2.16 [{'connected_gene': 'MED23', 'score': 620.25}, {'connected_gene': 'ENPP3', 'score': 550.77}, {'connected_gene': 'ARG1', 'score': 27.19}]
chr6 GH06I131753 131753848 131756721 1.1 [{'connected_gene': 'MED23', 'score': 17.39}, {'connected_gene': 'ENPP1', 'score': 5.4}, {'connected_gene': 'GC06M131781', 'score': 0.31}, {'connected_gene': 'CTAGE9', 'score': 0.26}]
chr6 GH06I132279 132279499 132280156 1.1 [{'connected_gene': 'MED23', 'score': 9.98}, {'connected_gene': 'MOXD1', 'score': 6.18}, {'connected_gene': 'EEF1A1P36', 'score': 0.44}, {'connected_gene': 'GC06M132077', 'score': 0.37}]
chr6 GH06I132333 132333589 132335388 1.05 [{'connected_gene': 'MED23', 'score': 13.97}, {'connected_gene': 'MOXD1', 'score': 12.24}, {'connected_gene': 'PIR45153', 'score': 0.37}, {'connected_gene': 'GC06M132077', 'score': 0.28}]
chr6 GH06I130980 130980001 130983496 1 [{'connected_gene': 'MED23', 'score': 21.56}, {'connected_gene': 'SMLR1', 'score': 16.15}, {'connected_gene': 'AKAP7', 'score': 5.55}, {'connected_gene': 'EPB41L2', 'score': 0.18}]
chr6 GH06I131915 131915261 131915430 0.74 [{'connected_gene': 'MED23', 'score': 12.4}, {'connected_gene': 'ENSG00000280058', 'score': 0.44}, {'connected_gene': 'ENSG00000236673', 'score': 0.39}, {'connected_gene': 'GC06M131950', 'score': 0.29}]
chr6 GH06I131937 131937278 131938850 1.13 [{'connected_gene': 'MED23', 'score': 12.4}, {'connected_gene': 'GC06M131950', 'score': 0.39}, {'connected_gene': 'ENSG00000280058', 'score': 0.31}]
chr6 GH06I132510 132510540 132514972 2.55 [{'connected_gene': 'STX7', 'score': 563.72}, {'connected_gene': 'MED23', 'score': 19.19}, {'connected_gene': 'SNORA33', 'score': 12.24}, {'connected_gene': 'LOC100421775', 'score': 10.25}, {'connected_gene': 'ENPP1', 'score': 9.86}, {'connected_gene': 'VNN2', 'score': 9.56}, {'connected_gene': 'VNN1', 'score': 2.74}, {'connected_gene': 'MOXD1', 'score': 0.14}]
chr6 GH06I131256 131256938 131260055 0.92 [{'connected_gene': 'ARG1', 'score': 5.19}, {'connected_gene': 'AKAP7', 'score': 2.06}, {'connected_gene': 'MED23', 'score': 1.3}, {'connected_gene': 'LOC100421246', 'score': 0.19}, {'connected_gene': 'LOC105378005', 'score': 0.09}]
chr6 GH06I131602 131602614 131603827 0.38 [{'connected_gene': 'ARG1', 'score': 62.03}, {'connected_gene': 'MED23', 'score': 11.86}, {'connected_gene': 'ENPP3', 'score': 11.86}, {'connected_gene': 'RNU4-18P', 'score': 10.7}]
chr6 GH06I131639 131639701 131640832 1.11 [{'connected_gene': 'ARG1', 'score': 43.64}, {'connected_gene': 'MED23', 'score': 10.34}, {'connected_gene': 'RNU4-18P', 'score': 0.77}, {'connected_gene': 'ENPP3', 'score': 0.39}]
chr6 GH06I131573 131573177 131573236 0.94 [{'connected_gene': 'ARG1', 'score': 550.77}, {'connected_gene': 'MED23', 'score': 0.22}]
chr6 GH06I131629 131629679 131630002 0.34 [{'connected_gene': 'ENPP3', 'score': 567.46}, {'connected_gene': 'MED23', 'score': 550.77}, {'connected_gene': 'RNU4-18P', 'score': 0.39}]
chr6 GH06I131807 131807161 131808803 1.95 [{'connected_gene': 'ENPP1', 'score': 550.77}, {'connected_gene': 'MED23', 'score': 17.35}, {'connected_gene': 'LOC100421775', 'score': 6.73}, {'connected_gene': 'MIR548H5', 'score': 0.37}]
chr6 GH06I132400 132400070 132402237 1.84 [{'connected_gene': 'MOXD1', 'score': 558.11}, {'connected_gene': 'MED23', 'score': 21.56}, {'connected_gene': 'SNORA33', 'score': 10.62}, {'connected_gene': 'PIR45153', 'score': 0.25}]
chr6 GH06I131061 131060953 131064370 2.17 [{'connected_gene': 'EPB41L2', 'score': 554.94}, {'connected_gene': 'LOC105378004', 'score': 550.77}, {'connected_gene': 'MED23', 'score': 11.78}, {'connected_gene': 'SMLR1', 'score': 0.07}]

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