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
ENST00000445828 [[27280842, 27280934], [27283969, 27284076], [27294551, 27294652], [27295845, 27295891], [27301810, 27302039], [27303422, 27303608]] [[27283998, 27284076], [27294551, 27294652], [27295845, 27295891], [27301810, 27302039], [27303422, 27303608]]
ENST00000376070 [[27293044, 27294652], [27295845, 27295891], [27301810, 27302039], [27303422, 27303640], [27306430, 27306721], [27311486, 27311616], [27313375, 27313488], [27317780, 27317874], [27318214, 27318285], [27322153, 27322306], [27323724, 27324681], [27326114, 27326252], [27326799, 27326983], [27328893, 27329107], [27332354, 27332496], [27333085, 27333119], [27335281, 27335452], [27337729, 27337908], [27339987, 27340293]] [[27294518, 27294652], [27295845, 27295891], [27301810, 27302039], [27303422, 27303640], [27306430, 27306721], [27311486, 27311616], [27313375, 27313488], [27317780, 27317874], [27318214, 27318285], [27322153, 27322306], [27323724, 27324681], [27326114, 27326252], [27326799, 27326983], [27328893, 27329107], [27332354, 27332496], [27333085, 27333119], [27335281, 27335452], [27337729, 27337908], [27339987, 27340293]]
ENST00000376087 [[27293226, 27294652], [27295845, 27295891], [27301810, 27302039], [27303422, 27303640], [27306430, 27306721], [27311486, 27311616], [27313375, 27313488], [27317780, 27317874], [27318214, 27318285], [27322153, 27322306], [27323724, 27324681], [27326114, 27326252], [27326799, 27326983], [27328893, 27329107], [27332354, 27332496], [27333085, 27333119], [27335281, 27335452], [27337729, 27337908], [27342248, 27342319], [27349273, 27349346], [27349440, 27349469], [27350072, 27350171], [27352916, 27353010], [27355415, 27355477], [27356085, 27356215], [27366266, 27366469], [27366561, 27366622], [27368017, 27368090], [27371731, 27371762], [27375467, 27375538], [27381334, 27381441], [27382277, 27382451], [27382613, 27382728], [27389013, 27389421]] [[27294518, 27294652], [27295845, 27295891], [27301810, 27302039], [27303422, 27303640], [27306430, 27306721], [27311486, 27311616], [27313375, 27313488], [27317780, 27317874], [27318214, 27318285], [27322153, 27322306], [27323724, 27324681], [27326114, 27326252], [27326799, 27326983], [27328893, 27329107], [27332354, 27332496], [27333085, 27333119], [27335281, 27335452], [27337729, 27337908], [27342248, 27342319], [27349273, 27349346], [27349440, 27349469], [27350072, 27350171], [27352916, 27353010], [27355415, 27355477], [27356085, 27356215], [27366266, 27366469], [27366561, 27366622], [27368017, 27368090], [27371731, 27371762], [27375467, 27375538], [27381334, 27381441], [27382277, 27382451], [27382613, 27382728], [27389013, 27389255]]
ENST00000436985 [[27294477, 27294652], [27295845, 27295891], [27301810, 27302039], [27303422, 27303640], [27306430, 27306721], [27311486, 27311616], [27313375, 27313488], [27317780, 27317874], [27318214, 27318285], [27322153, 27322306], [27323724, 27324681], [27326114, 27326252], [27326799, 27326983], [27328893, 27329107], [27332354, 27332496], [27333085, 27333119], [27335281, 27335452], [27337729, 27337908], [27342248, 27342319], [27349273, 27349346], [27349440, 27349469], [27352916, 27353010], [27355415, 27355477], [27356085, 27356215], [27366266, 27366469], [27366561, 27366622], [27368017, 27368090], [27368960, 27369107], [27371731, 27371762], [27375467, 27375538], [27381334, 27381441], [27382277, 27382451], [27382613, 27382728], [27389013, 27389320]] [[27294518, 27294652], [27295845, 27295891], [27301810, 27302039], [27303422, 27303640], [27306430, 27306721], [27311486, 27311616], [27313375, 27313488], [27317780, 27317874], [27318214, 27318285], [27322153, 27322306], [27323724, 27324681], [27326114, 27326252], [27326799, 27326983], [27328893, 27329107], [27332354, 27332496], [27333085, 27333119], [27335281, 27335452], [27337729, 27337908], [27342248, 27342319], [27349273, 27349346], [27349440, 27349469], [27352916, 27353010], [27355415, 27355477], [27356085, 27356215], [27366266, 27366469], [27366561, 27366622], [27368017, 27368090], [27368960, 27369107], [27371731, 27371762], [27375467, 27375538], [27381334, 27381441], [27382277, 27382451], [27382613, 27382728], [27389013, 27389255]]
ENST00000490015 [[27326924, 27326983], [27328893, 27329107], [27332354, 27332496], [27333085, 27333119], [27335039, 27335222]] None
ENST00000473304 [[27355169, 27355477], [27356085, 27356215], [27366266, 27366353]] None
ENST00000466890 [[27365951, 27366469], [27366561, 27366622], [27368017, 27368090], [27369577, 27369649]] None
NM_014915 [[27293044, 27294652], [27295845, 27295891], [27301810, 27302039], [27303422, 27303640], [27306430, 27306721], [27311486, 27311616], [27313375, 27313488], [27317780, 27317874], [27318214, 27318285], [27322153, 27322306], [27323724, 27324681], [27326114, 27326252], [27326799, 27326983], [27328893, 27329107], [27332354, 27332496], [27333085, 27333119], [27335281, 27335452], [27337729, 27337908], [27342248, 27342319], [27349273, 27349346], [27349440, 27349469], [27350072, 27350171], [27352916, 27353010], [27355415, 27355477], [27356085, 27356215], [27366266, 27366469], [27366561, 27366622], [27368017, 27368090], [27371731, 27371762], [27375467, 27375538], [27381334, 27381441], [27382277, 27382451], [27382613, 27382728], [27389013, 27389427]] [[27294518, 27294652], [27295845, 27295891], [27301810, 27302039], [27303422, 27303640], [27306430, 27306721], [27311486, 27311616], [27313375, 27313488], [27317780, 27317874], [27318214, 27318285], [27322153, 27322306], [27323724, 27324681], [27326114, 27326252], [27326799, 27326983], [27328893, 27329107], [27332354, 27332496], [27333085, 27333119], [27335281, 27335452], [27337729, 27337908], [27342248, 27342319], [27349273, 27349346], [27349440, 27349469], [27350072, 27350171], [27352916, 27353010], [27355415, 27355477], [27356085, 27356215], [27366266, 27366469], [27366561, 27366622], [27368017, 27368090], [27371731, 27371762], [27375467, 27375538], [27381334, 27381441], [27382277, 27382451], [27382613, 27382728], [27389013, 27389255]]
NM_001256053 [[27293044, 27294652], [27295845, 27295891], [27301810, 27302039], [27303422, 27303640], [27306430, 27306721], [27311486, 27311616], [27313375, 27313488], [27317780, 27317874], [27318214, 27318285], [27322153, 27322306], [27323724, 27324681], [27326114, 27326252], [27326799, 27326983], [27328893, 27329107], [27332354, 27332496], [27333085, 27333119], [27335281, 27335449], [27337729, 27337908], [27342248, 27342319], [27349273, 27349346], [27349440, 27349469], [27350072, 27350171], [27352916, 27353010], [27355415, 27355477], [27356085, 27356215], [27366266, 27366469], [27366561, 27366622], [27368017, 27368090], [27371731, 27371762], [27375467, 27375538], [27381334, 27381441], [27382277, 27382451], [27382613, 27382728], [27389013, 27389427]] [[27294518, 27294652], [27295845, 27295891], [27301810, 27302039], [27303422, 27303640], [27306430, 27306721], [27311486, 27311616], [27313375, 27313488], [27317780, 27317874], [27318214, 27318285], [27322153, 27322306], [27323724, 27324681], [27326114, 27326252], [27326799, 27326983], [27328893, 27329107], [27332354, 27332496], [27333085, 27333119], [27335281, 27335449], [27337729, 27337908], [27342248, 27342319], [27349273, 27349346], [27349440, 27349469], [27350072, 27350171], [27352916, 27353010], [27355415, 27355477], [27356085, 27356215], [27366266, 27366469], [27366561, 27366622], [27368017, 27368090], [27371731, 27371762], [27375467, 27375538], [27381334, 27381441], [27382277, 27382451], [27382613, 27382728], [27389013, 27389255]]
Promoter
Chrom Start End Description
chr10 27389351 27389384 CAGE_peak_2_at_ANKRD26_5end
chr10 27389392 27389436 CAGE_peak_1_at_ANKRD26_5end
chr10 27389437 27389449 CAGE_peak_3_at_ANKRD26_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I027238 27238868 27244124 2.66 [{'connected_gene': 'ACBD5', 'score': 552.07}, {'connected_gene': 'ENSG00000262412', 'score': 550.77}, {'connected_gene': 'MASTL', 'score': 59.12}, {'connected_gene': 'YME1L1', 'score': 14.03}, {'connected_gene': 'ANKRD26', 'score': 10.66}, {'connected_gene': 'ABI1', 'score': 4.32}, {'connected_gene': 'RNU7-12P', 'score': 0.44}]
chr10 GH10I027143 27143832 27143981 0.31 [{'connected_gene': 'ACBD5', 'score': 10.48}, {'connected_gene': 'MASTL', 'score': 0.39}, {'connected_gene': 'YME1L1', 'score': 0.39}, {'connected_gene': 'ANKRD26', 'score': 0.26}]
chr10 GH10I027022 27022965 27024368 0.4 [{'connected_gene': 'MASTL', 'score': 35.79}, {'connected_gene': 'FAM238C', 'score': 14.03}, {'connected_gene': 'YME1L1', 'score': 10.09}, {'connected_gene': 'PIR38783', 'score': 0.37}, {'connected_gene': 'ANKRD26', 'score': 0.18}]
chr10 GH10I027224 27224182 27224765 0.54 [{'connected_gene': 'MASTL', 'score': 54.83}, {'connected_gene': 'YME1L1', 'score': 11.72}, {'connected_gene': 'ANKRD26', 'score': 10.79}, {'connected_gene': 'GC10P027231', 'score': 0.44}, {'connected_gene': 'GC10P027215', 'score': 0.44}, {'connected_gene': 'ACBD5', 'score': 0.37}]
chr10 GH10I027152 27152361 27157602 2.3 [{'connected_gene': 'MASTL', 'score': 625.54}, {'connected_gene': 'YME1L1', 'score': 573.04}, {'connected_gene': 'ANKRD26', 'score': 19.9}, {'connected_gene': 'FAM238C', 'score': 13.18}, {'connected_gene': 'LRRC37A6P', 'score': 5.86}]
chr10 GH10I027997 27997794 27999400 1.89 [{'connected_gene': 'ARMC4', 'score': 561.0}, {'connected_gene': 'ENSG00000233472', 'score': 550.77}, {'connected_gene': 'MASTL', 'score': 19.78}, {'connected_gene': 'ANKRD26', 'score': 15.35}, {'connected_gene': 'GC10P027944', 'score': 0.23}]
chr10 GH10I027072 27072552 27072721 0.46 [{'connected_gene': 'FAM238C', 'score': 16.81}, {'connected_gene': 'MASTL', 'score': 10.55}, {'connected_gene': 'YME1L1', 'score': 10.55}, {'connected_gene': 'GC10M027089', 'score': 0.37}, {'connected_gene': 'GC10P027057', 'score': 0.37}, {'connected_gene': 'RNU6-490P', 'score': 0.37}, {'connected_gene': 'ANKRD26', 'score': 0.31}]
chr10 GH10I026700 26700292 26701974 0.46 [{'connected_gene': 'PDSS1', 'score': 23.34}, {'connected_gene': 'ANKRD26', 'score': 10.68}, {'connected_gene': 'FAM238B', 'score': 5.8}, {'connected_gene': 'ENSG00000279212', 'score': 0.77}, {'connected_gene': 'GC10M026672', 'score': 0.39}]
chr10 GH10I027099 27099355 27101563 2.02 [{'connected_gene': 'ANKRD26', 'score': 564.14}, {'connected_gene': 'MASTL', 'score': 57.77}, {'connected_gene': 'FAM238C', 'score': 11.75}, {'connected_gene': 'YME1L1', 'score': 10.59}, {'connected_gene': 'GC10M027087', 'score': 0.77}]
chr10 GH10I027101 27101572 27101741 0.56 [{'connected_gene': 'ANKRD26', 'score': 572.25}, {'connected_gene': 'MASTL', 'score': 0.23}]
chr10 GH10I027558 27558632 27558781 0.74 [{'connected_gene': 'ANKRD26', 'score': 15.37}, {'connected_gene': 'ARMC4', 'score': 10.27}, {'connected_gene': 'LOC105376463', 'score': 0.44}, {'connected_gene': 'GC10P027538', 'score': 0.34}, {'connected_gene': 'GC10P027539', 'score': 0.34}]
chr10 GH10I026523 26523941 26524555 1.1 [{'connected_gene': 'ANKRD26', 'score': 16.82}, {'connected_gene': 'RNA5SP307', 'score': 0.39}, {'connected_gene': 'GC10P026534', 'score': 0.39}, {'connected_gene': 'APBB1IP', 'score': 0.17}]
chr10 GH10I026524 26524612 26524781 0.98 [{'connected_gene': 'ANKRD26', 'score': 16.82}, {'connected_gene': 'GC10P026534', 'score': 0.44}, {'connected_gene': 'RNA5SP307', 'score': 0.37}, {'connected_gene': 'APBB1IP', 'score': 0.17}]