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
ENST00000421865 [[129204341, 129204502], [129371062, 129371233], [129380928, 129381041], [129419317, 129419560], [129465045, 129465225], [129468103, 129468193], [129470123, 129470241], [129475649, 129475828], [129486720, 129486820], [129498850, 129499011], [129511349, 129511490], [129513824, 129513998], [129571256, 129571358], [129573228, 129573440], [129581855, 129581967], [129588250, 129588364], [129591768, 129591896], [129601205, 129601292], [129608991, 129609203], [129612758, 129612865], [129618829, 129619010], [129621880, 129622017], [129634005, 129634242], [129635799, 129635943], [129636620, 129636800], [129636906, 129637095], [129637182, 129637316], [129641682, 129641800], [129649422, 129649557], [129663487, 129663612], [129670442, 129670529], [129674308, 129674502], [129687363, 129687506], [129691036, 129691135], [129704266, 129704378], [129712635, 129712798], [129714189, 129714400], [129722368, 129722485], [129723468, 129723632], [129724965, 129725104], [129748896, 129748999], [129759790, 129759907], [129761960, 129762143], [129764207, 129764213], [129766811, 129766966], [129774132, 129774276], [129775299, 129775433], [129777479, 129777639], [129781344, 129781469], [129785434, 129785597], [129786289, 129786434], [129794358, 129794497], [129796534, 129796546], [129799837, 129799958], [129802407, 129802584], [129807618, 129807767], [129813045, 129813222], [129813459, 129813628], [129823803, 129823916], [129824235, 129824425], [129826344, 129826500], [129828633, 129828787], [129833507, 129833638], [129835517, 129835740], [129837334, 129837714]] [[129204390, 129204502], [129371062, 129371233], [129380928, 129381041], [129419317, 129419560], [129465045, 129465225], [129468103, 129468193], [129470123, 129470241], [129475649, 129475828], [129486720, 129486820], [129498850, 129499011], [129511349, 129511490], [129513824, 129513998], [129571256, 129571358], [129573228, 129573440], [129581855, 129581967], [129588250, 129588364], [129591768, 129591896], [129601205, 129601292], [129608991, 129609203], [129612758, 129612865], [129618829, 129619010], [129621880, 129622017], [129634005, 129634242], [129635799, 129635943], [129636620, 129636800], [129636906, 129637095], [129637182, 129637316], [129641682, 129641800], [129649422, 129649557], [129663487, 129663612], [129670442, 129670529], [129674308, 129674502], [129687363, 129687506], [129691036, 129691135], [129704266, 129704378], [129712635, 129712798], [129714189, 129714400], [129722368, 129722485], [129723468, 129723632], [129724965, 129725104], [129748896, 129748999], [129759790, 129759907], [129761960, 129762143], [129764207, 129764213], [129766811, 129766966], [129774132, 129774276], [129775299, 129775433], [129777479, 129777639], [129781344, 129781469], [129785434, 129785597], [129786289, 129786434], [129794358, 129794497], [129796534, 129796546], [129799837, 129799958], [129802407, 129802584], [129807618, 129807767], [129813045, 129813222], [129813459, 129813628], [129823803, 129823916], [129824235, 129824425], [129826344, 129826500], [129828633, 129828787], [129833507, 129833638], [129835517, 129835740], [129837334, 129837492]]
ENST00000466230 [[129204459, 129204502], [129226544, 129226725], [129371062, 129371126]] None
ENST00000498257 [[129811827, 129811940], [129812126, 129812224], [129813045, 129813222], [129813459, 129813628], [129823803, 129823817]] None
ENST00000494137 [[129811880, 129811940], [129813045, 129813222], [129813459, 129813595]] None
NM_001079823 [[129204285, 129204502], [129371062, 129371233], [129380928, 129381041], [129419317, 129419560], [129465045, 129465225], [129468103, 129468193], [129470123, 129470241], [129475649, 129475828], [129486720, 129486820], [129498850, 129499011], [129511349, 129511490], [129513824, 129513998], [129571256, 129571358], [129573228, 129573440], [129581855, 129581967], [129588250, 129588364], [129591768, 129591896], [129601205, 129601292], [129608991, 129609203], [129612758, 129612865], [129618829, 129619010], [129621880, 129622017], [129634005, 129634242], [129635799, 129635943], [129636620, 129636800], [129636906, 129637095], [129637182, 129637316], [129641682, 129641800], [129649422, 129649557], [129663487, 129663612], [129670442, 129670529], [129674308, 129674502], [129687363, 129687506], [129691036, 129691135], [129704266, 129704378], [129712635, 129712798], [129714189, 129714400], [129722368, 129722485], [129723468, 129723632], [129724965, 129725104], [129748896, 129748999], [129759790, 129759907], [129761960, 129762143], [129764207, 129764213], [129766811, 129766966], [129774132, 129774276], [129775299, 129775433], [129777479, 129777639], [129781344, 129781469], [129785434, 129785597], [129786289, 129786434], [129794358, 129794497], [129799837, 129799958], [129802407, 129802584], [129807618, 129807767], [129813045, 129813222], [129813459, 129813628], [129823803, 129823916], [129824235, 129824425], [129826344, 129826500], [129828633, 129828787], [129833507, 129833638], [129835517, 129835740], [129837334, 129837711]] [[129204390, 129204502], [129371062, 129371233], [129380928, 129381041], [129419317, 129419560], [129465045, 129465225], [129468103, 129468193], [129470123, 129470241], [129475649, 129475828], [129486720, 129486820], [129498850, 129499011], [129511349, 129511490], [129513824, 129513998], [129571256, 129571358], [129573228, 129573440], [129581855, 129581967], [129588250, 129588364], [129591768, 129591896], [129601205, 129601292], [129608991, 129609203], [129612758, 129612865], [129618829, 129619010], [129621880, 129622017], [129634005, 129634242], [129635799, 129635943], [129636620, 129636800], [129636906, 129637095], [129637182, 129637316], [129641682, 129641800], [129649422, 129649557], [129663487, 129663612], [129670442, 129670529], [129674308, 129674502], [129687363, 129687506], [129691036, 129691135], [129704266, 129704378], [129712635, 129712798], [129714189, 129714400], [129722368, 129722485], [129723468, 129723632], [129724965, 129725104], [129748896, 129748999], [129759790, 129759907], [129761960, 129762143], [129764207, 129764213], [129766811, 129766966], [129774132, 129774276], [129775299, 129775433], [129777479, 129777639], [129781344, 129781469], [129785434, 129785597], [129786289, 129786434], [129794358, 129794497], [129799837, 129799958], [129802407, 129802584], [129807618, 129807767], [129813045, 129813222], [129813459, 129813628], [129823803, 129823916], [129824235, 129824425], [129826344, 129826500], [129828633, 129828787], [129833507, 129833638], [129835517, 129835740], [129837334, 129837492]]
NM_000426 [[129204285, 129204502], [129371062, 129371233], [129380928, 129381041], [129419317, 129419560], [129465045, 129465225], [129468103, 129468193], [129470123, 129470241], [129475649, 129475828], [129486720, 129486820], [129498850, 129499011], [129511349, 129511490], [129513824, 129513998], [129571256, 129571358], [129573228, 129573440], [129581855, 129581967], [129588250, 129588364], [129591768, 129591896], [129601205, 129601292], [129608991, 129609203], [129612758, 129612865], [129618829, 129619010], [129621880, 129622017], [129634005, 129634242], [129635799, 129635943], [129636620, 129636800], [129636906, 129637095], [129637182, 129637316], [129641682, 129641800], [129649422, 129649557], [129663487, 129663612], [129670442, 129670529], [129674308, 129674502], [129687363, 129687506], [129691036, 129691135], [129704266, 129704378], [129712635, 129712798], [129714189, 129714400], [129722368, 129722485], [129723468, 129723632], [129724965, 129725104], [129748896, 129748999], [129759790, 129759907], [129761960, 129762143], [129764207, 129764213], [129766811, 129766966], [129774132, 129774276], [129775299, 129775433], [129777479, 129777639], [129781344, 129781469], [129785434, 129785597], [129786289, 129786434], [129794358, 129794497], [129796534, 129796546], [129799837, 129799958], [129802407, 129802584], [129807618, 129807767], [129813045, 129813222], [129813459, 129813628], [129823803, 129823916], [129824235, 129824425], [129826344, 129826500], [129828633, 129828787], [129833507, 129833638], [129835517, 129835740], [129837334, 129837711]] [[129204390, 129204502], [129371062, 129371233], [129380928, 129381041], [129419317, 129419560], [129465045, 129465225], [129468103, 129468193], [129470123, 129470241], [129475649, 129475828], [129486720, 129486820], [129498850, 129499011], [129511349, 129511490], [129513824, 129513998], [129571256, 129571358], [129573228, 129573440], [129581855, 129581967], [129588250, 129588364], [129591768, 129591896], [129601205, 129601292], [129608991, 129609203], [129612758, 129612865], [129618829, 129619010], [129621880, 129622017], [129634005, 129634242], [129635799, 129635943], [129636620, 129636800], [129636906, 129637095], [129637182, 129637316], [129641682, 129641800], [129649422, 129649557], [129663487, 129663612], [129670442, 129670529], [129674308, 129674502], [129687363, 129687506], [129691036, 129691135], [129704266, 129704378], [129712635, 129712798], [129714189, 129714400], [129722368, 129722485], [129723468, 129723632], [129724965, 129725104], [129748896, 129748999], [129759790, 129759907], [129761960, 129762143], [129764207, 129764213], [129766811, 129766966], [129774132, 129774276], [129775299, 129775433], [129777479, 129777639], [129781344, 129781469], [129785434, 129785597], [129786289, 129786434], [129794358, 129794497], [129796534, 129796546], [129799837, 129799958], [129802407, 129802584], [129807618, 129807767], [129813045, 129813222], [129813459, 129813628], [129823803, 129823916], [129824235, 129824425], [129826344, 129826500], [129828633, 129828787], [129833507, 129833638], [129835517, 129835740], [129837334, 129837492]]
Promoter
Chrom Start End Description
chr6 129204219 129204228 CAGE_peak_6_at_LAMA2_5end
chr6 129204231 129204248 CAGE_peak_4_at_LAMA2_5end
chr6 129204259 129204300 CAGE_peak_1_at_LAMA2_5end
chr6 129204301 129204323 CAGE_peak_2_at_LAMA2_5end
chr6 129204337 129204348 CAGE_peak_5_at_LAMA2_5end
chr6 129811829 129811874 CAGE_peak_3_at_LAMA2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I129495 129495688 129495847 0.44 [{'connected_gene': 'ARHGAP18', 'score': 11.98}, {'connected_gene': 'RPL5P21', 'score': 10.85}, {'connected_gene': 'GC06M129493', 'score': 0.77}, {'connected_gene': 'LOC102723409', 'score': 0.22}, {'connected_gene': 'LAMA2', 'score': 0.03}]
chr6 GH06I129184 129184441 129185760 0.46 [{'connected_gene': 'PTPRK', 'score': 4.69}, {'connected_gene': 'BMPR1APS1', 'score': 0.31}, {'connected_gene': 'GC06P129295', 'score': 0.14}, {'connected_gene': 'LAMA2', 'score': 0.06}]
chr6 GH06I129186 129186552 129187627 0.68 [{'connected_gene': 'PTPRK', 'score': 4.62}, {'connected_gene': 'BMPR1APS1', 'score': 0.31}, {'connected_gene': 'GC06P129295', 'score': 0.14}, {'connected_gene': 'LAMA2', 'score': 0.06}]
chr6 GH06I129341 129340074 129340308 0.22 [{'connected_gene': 'LAMA2', 'score': 2.02}, {'connected_gene': 'GC06P129295', 'score': 0.26}, {'connected_gene': 'RNU6-861P', 'score': 0.15}]
chr6 GH06I129345 129345954 129346192 0.42 [{'connected_gene': 'LAMA2', 'score': 2.26}, {'connected_gene': 'GC06P129295', 'score': 0.23}, {'connected_gene': 'RNU6-861P', 'score': 0.16}]
chr6 GH06I129133 129133434 129134965 0.81 [{'connected_gene': 'LAMA2', 'score': 2.23}, {'connected_gene': 'BMPR1APS1', 'score': 0.34}, {'connected_gene': 'MESTP1', 'score': 0.08}]
chr6 GH06I129073 129073508 129074622 0.31 [{'connected_gene': 'LAMA2', 'score': 4.42}, {'connected_gene': 'BMPR1APS1', 'score': 0.17}, {'connected_gene': 'MESTP1', 'score': 0.11}]
chr6 GH06I128882 128882171 128885000 1.49 [{'connected_gene': 'LAMA2', 'score': 550.77}, {'connected_gene': 'GC06M128928', 'score': 0.25}]
chr6 GH06I129029 129029916 129033175 0.43 [{'connected_gene': 'MESTP1', 'score': 0.15}, {'connected_gene': 'BMPR1APS1', 'score': 0.13}, {'connected_gene': 'LAMA2', 'score': 0.11}]
chr6 GH06I129211 129211134 129213336 0.2 [{'connected_gene': 'BMPR1APS1', 'score': 0.23}, {'connected_gene': 'GC06P129295', 'score': 0.18}, {'connected_gene': 'LAMA2', 'score': 0.05}]
chr6 GH06I129183 129183677 129183945 1.1 [{'connected_gene': 'BMPR1APS1', 'score': 0.34}, {'connected_gene': 'GC06P129295', 'score': 0.14}, {'connected_gene': 'LAMA2', 'score': 0.06}]
chr6 GH06I129120 129120583 129121674 0.31 [{'connected_gene': 'BMPR1APS1', 'score': 0.28}, {'connected_gene': 'MESTP1', 'score': 0.08}, {'connected_gene': 'LAMA2', 'score': 0.07}]
chr6 GH06I129130 129130889 129131879 0.31 [{'connected_gene': 'BMPR1APS1', 'score': 0.31}, {'connected_gene': 'MESTP1', 'score': 0.08}, {'connected_gene': 'LAMA2', 'score': 0.07}]
chr6 GH06I129102 129102282 129106201 0.66 [{'connected_gene': 'BMPR1APS1', 'score': 0.23}, {'connected_gene': 'MESTP1', 'score': 0.09}, {'connected_gene': 'LAMA2', 'score': 0.07}]
chr6 GH06I129139 129139563 129141961 0.31 [{'connected_gene': 'BMPR1APS1', 'score': 0.37}, {'connected_gene': 'MESTP1', 'score': 0.08}, {'connected_gene': 'LAMA2', 'score': 0.07}]
chr6 GH06I129497 129497286 129503594 1.62 [{'connected_gene': 'RPL5P21', 'score': 10.85}, {'connected_gene': 'ARHGAP18', 'score': 9.84}, {'connected_gene': 'GC06M129493', 'score': 0.44}, {'connected_gene': 'LOC102723409', 'score': 0.23}, {'connected_gene': 'LAMA2', 'score': 0.03}]
chr6 GH06I129507 129507129 129508207 0.78 [{'connected_gene': 'RPL5P21', 'score': 10.27}, {'connected_gene': 'GC06M129493', 'score': 0.39}, {'connected_gene': 'LOC102723409', 'score': 0.25}, {'connected_gene': 'LAMA2', 'score': 0.03}]
chr6 GH06I129481 129481039 129482919 0.38 [{'connected_gene': 'ENSG00000233351', 'score': 550.77}, {'connected_gene': 'GC06M129493', 'score': 0.39}, {'connected_gene': 'LAMA2', 'score': 0.03}]
chr6 GH06I128803 128803956 128804105 0.2 [{'connected_gene': 'ENSG00000202200', 'score': 0.26}, {'connected_gene': 'GC06M128762', 'score': 0.26}, {'connected_gene': 'LAMA2', 'score': 0.18}]
chr6 GH06I129485 129485292 129486295 0.46 [{'connected_gene': 'ENSG00000233351', 'score': 0.77}, {'connected_gene': 'GC06M129493', 'score': 0.44}, {'connected_gene': 'LAMA2', 'score': 0.03}]
chr6 GH06I128929 128929432 128929955 0.31 [{'connected_gene': 'GC06M128928', 'score': 550.77}, {'connected_gene': 'MESTP1', 'score': 550.77}, {'connected_gene': 'LAMA2', 'score': 0.25}]
chr6 GH06I129312 129312976 129313125 0.43 [{'connected_gene': 'GC06P129295', 'score': 0.37}, {'connected_gene': 'RNU6-861P', 'score': 0.13}, {'connected_gene': 'LAMA2', 'score': 0.04}]
chr6 GH06I129340 129340333 129342584 0.56 [{'connected_gene': 'GC06P129295', 'score': 0.25}, {'connected_gene': 'RNU6-861P', 'score': 0.15}, {'connected_gene': 'LAMA2', 'score': 0.05}]
chr6 GH06I129320 129320132 129321251 0.2 [{'connected_gene': 'GC06P129295', 'score': 0.34}, {'connected_gene': 'RNU6-861P', 'score': 0.13}, {'connected_gene': 'LAMA2', 'score': 0.05}]
chr6 GH06I129317 129317693 129319165 1.19 [{'connected_gene': 'GC06P129295', 'score': 0.34}, {'connected_gene': 'RNU6-861P', 'score': 0.13}, {'connected_gene': 'LAMA2', 'score': 0.05}]
chr6 GH06I129447 129447643 129447996 0.23 [{'connected_gene': 'ENSG00000233351', 'score': 18.9}, {'connected_gene': 'RNU6-861P', 'score': 0.39}, {'connected_gene': 'LAMA2', 'score': 0.03}]
chr6 GH06I129252 129252196 129252325 0.6 [{'connected_gene': 'GC06P129295', 'score': 0.26}, {'connected_gene': 'BMPR1APS1', 'score': 0.16}, {'connected_gene': 'LAMA2', 'score': 0.05}]
chr6 GH06I129279 129279932 129284437 0.43 [{'connected_gene': 'GC06P129295', 'score': 0.39}, {'connected_gene': 'BMPR1APS1', 'score': 0.13}, {'connected_gene': 'LAMA2', 'score': 0.05}]
chr6 GH06I129488 129488806 129495188 1.75 [{'connected_gene': 'GC06M129493', 'score': 550.77}, {'connected_gene': 'RPL5P21', 'score': 10.84}, {'connected_gene': 'ARHGAP18', 'score': 9.84}, {'connected_gene': 'ENSG00000233351', 'score': 5.89}, {'connected_gene': 'LAMA2', 'score': 0.03}]

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