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
ENST00000245865 [[61780191, 61782268], [61783994, 61784090], [61784606, 61784778], [61787850, 61787974], [61788087, 61788196], [61790765, 61790887], [61791365, 61791468], [61803997, 61804055], [61805693, 61805773], [61819100, 61819121]] [[61782238, 61782268], [61783994, 61784090], [61784606, 61784778], [61787850, 61787974], [61788087, 61788196], [61790765, 61790887], [61791365, 61791417]]
ENST00000375840 [[61780191, 61781111], [61781364, 61781407], [61781700, 61781942], [61783994, 61784099], [61784606, 61784778], [61787850, 61787974], [61788087, 61788196], [61790765, 61790887], [61791365, 61791468], [61803997, 61804055], [61805693, 61805773], [61819100, 61819143]] [[61780958, 61781111], [61781364, 61781407], [61781700, 61781942], [61783994, 61784099], [61784606, 61784778], [61787850, 61787974], [61788087, 61788196], [61790765, 61790887], [61791365, 61791417]]
ENST00000583085 [[61780199, 61783884]] None
ENST00000392950 [[61780201, 61781942], [61783994, 61784099], [61784606, 61784778], [61787850, 61787974], [61788087, 61788196], [61790765, 61790887], [61791365, 61791468], [61805717, 61805773], [61819100, 61819330]] [[61781642, 61781942], [61783994, 61784099], [61784606, 61784778], [61787850, 61787974], [61788087, 61788196], [61790765, 61790887], [61791365, 61791468], [61805717, 61805729]]
ENST00000336174 [[61780224, 61781111], [61781364, 61781407], [61781700, 61781942], [61783994, 61784099], [61784606, 61784778], [61787850, 61787974], [61788087, 61788196], [61790765, 61790887], [61791365, 61791468], [61800657, 61800686], [61803997, 61804055], [61805693, 61805773], [61819100, 61819169]] [[61780958, 61781111], [61781364, 61781407], [61781700, 61781942], [61783994, 61784099], [61784606, 61784778], [61787850, 61787974], [61788087, 61788196], [61790765, 61790887], [61791365, 61791468], [61800657, 61800686], [61803997, 61804055], [61805693, 61805729]]
ENST00000582026 [[61780561, 61781407], [61781700, 61781815]] [[61781355, 61781407], [61781700, 61781815]]
ENST00000447001 [[61780815, 61781111], [61781364, 61781407], [61781791, 61781942], [61783994, 61784099], [61784606, 61784778], [61787850, 61787974], [61788087, 61788196], [61790765, 61790887], [61803997, 61804055], [61805693, 61805773], [61819100, 61819238]] [[61781384, 61781407], [61781791, 61781942], [61783994, 61784099], [61784606, 61784778], [61787850, 61787974], [61788087, 61788196], [61790765, 61790887], [61803997, 61804055], [61805693, 61805729]]
ENST00000582137 [[61781017, 61781111], [61781364, 61781407], [61781791, 61781942], [61783994, 61784099], [61784606, 61784778], [61787850, 61787974], [61788087, 61788196], [61790765, 61790887], [61791365, 61791468], [61805693, 61805773], [61819100, 61819156]] [[61781384, 61781407], [61781791, 61781942], [61783994, 61784099], [61784606, 61784778], [61787850, 61787974], [61788087, 61788196], [61790765, 61790887], [61791365, 61791468], [61805693, 61805729]]
ENST00000580039 [[61781059, 61781111], [61781364, 61781407], [61781700, 61781942], [61783994, 61784099], [61784606, 61784778], [61787850, 61787974], [61788087, 61788196], [61790765, 61790887], [61800657, 61800734]] None
ENST00000579340 [[61781567, 61781942], [61783994, 61784099], [61787850, 61787974], [61788087, 61788196], [61790765, 61790887], [61791365, 61791468], [61803997, 61804055], [61805693, 61805773], [61819100, 61819192]] [[61781932, 61781942], [61783994, 61784099], [61787850, 61787974], [61788087, 61788196], [61790765, 61790887], [61791365, 61791417]]
ENST00000578008 [[61781944, 61782268], [61783994, 61784099], [61784606, 61784778], [61787850, 61787974], [61788087, 61788160]] [[61782238, 61782268], [61783994, 61784099], [61784606, 61784778], [61787850, 61787974], [61788087, 61788160]]
ENST00000578801 [[61782085, 61782268], [61783994, 61784099], [61787850, 61787974], [61788087, 61788196], [61790765, 61790804]] [[61782249, 61782268], [61783994, 61784099], [61787850, 61787974], [61788087, 61788196], [61790765, 61790804]]
ENST00000581243 [[61784606, 61784778], [61787850, 61787974], [61788087, 61788196], [61790765, 61790887], [61791365, 61791468], [61794434, 61794514], [61803997, 61804055], [61805693, 61805773], [61819100, 61819190]] [[61794485, 61794514], [61803997, 61804055], [61805693, 61805729]]
ENST00000581505 [[61784766, 61784870], [61787850, 61787974], [61788087, 61788196], [61790765, 61790887], [61800657, 61800733]] None
ENST00000577375 [[61787721, 61787974], [61788087, 61788196], [61790765, 61790887], [61791365, 61791468], [61803997, 61804055], [61805693, 61805744]] None
ENST00000580338 [[61788134, 61788196], [61790765, 61790887], [61791365, 61791468], [61803997, 61804055], [61805693, 61805773], [61814755, 61814796], [61819100, 61819197]] [[61788134, 61788196], [61790765, 61790887], [61791365, 61791417]]
ENST00000579549 [[61790785, 61790887], [61791365, 61791468], [61805717, 61805773], [61818813, 61819156]] [[61790785, 61790887], [61791365, 61791468], [61805717, 61805729]]
ENST00000582030 [[61790788, 61790887], [61791365, 61791468], [61803997, 61804055], [61805717, 61805773], [61818813, 61819023], [61819100, 61819156]] [[61790788, 61790887], [61791365, 61791417]]
ENST00000579318 [[61790813, 61790887], [61791365, 61791914]] None
ENST00000579350 [[61790867, 61790887], [61791365, 61791468], [61792564, 61792911]] None
ENST00000584110 [[61791386, 61791468], [61803997, 61804055], [61805693, 61805773], [61818813, 61819156]] [[61791386, 61791417]]
ENST00000580288 [[61791455, 61791468], [61800657, 61800686], [61803997, 61804055], [61805693, 61805773], [61818813, 61819158]] [[61791455, 61791468], [61800657, 61800686], [61803997, 61804055], [61805693, 61805729]]
ENST00000578507 [[61805271, 61805773], [61819100, 61819178]] None
NM_001003787 [[61780191, 61781111], [61781364, 61781407], [61781700, 61781942], [61783994, 61784099], [61784606, 61784778], [61787850, 61787974], [61788087, 61788196], [61790765, 61790887], [61791365, 61791468], [61800657, 61800686], [61803997, 61804055], [61805693, 61805773], [61819100, 61819330]] [[61780958, 61781111], [61781364, 61781407], [61781700, 61781942], [61783994, 61784099], [61784606, 61784778], [61787850, 61787974], [61788087, 61788196], [61790765, 61790887], [61791365, 61791468], [61800657, 61800686], [61803997, 61804055], [61805693, 61805729]]
NM_001003788 [[61780191, 61781111], [61781364, 61781407], [61781700, 61781942], [61783994, 61784099], [61784606, 61784778], [61787850, 61787974], [61788087, 61788196], [61790765, 61790887], [61791365, 61791468], [61803997, 61804055], [61805693, 61805773], [61819100, 61819330]] [[61780958, 61781111], [61781364, 61781407], [61781700, 61781942], [61783994, 61784099], [61784606, 61784778], [61787850, 61787974], [61788087, 61788196], [61790765, 61790887], [61791365, 61791417]]
NM_001165970 [[61780191, 61781111], [61781364, 61781407], [61781791, 61781942], [61783994, 61784099], [61784606, 61784778], [61787850, 61787974], [61788087, 61788196], [61790765, 61790887], [61803997, 61804055], [61805693, 61805773], [61819100, 61819330]] [[61781384, 61781407], [61781791, 61781942], [61783994, 61784099], [61784606, 61784778], [61787850, 61787974], [61788087, 61788196], [61790765, 61790887], [61803997, 61804055], [61805693, 61805729]]
NM_001165969 [[61780191, 61781111], [61781364, 61781407], [61781791, 61781942], [61783994, 61784099], [61784606, 61784778], [61787850, 61787974], [61788087, 61788196], [61790765, 61790887], [61791365, 61791468], [61805693, 61805773], [61819100, 61819330]] [[61781384, 61781407], [61781791, 61781942], [61783994, 61784099], [61784606, 61784778], [61787850, 61787974], [61788087, 61788196], [61790765, 61790887], [61791365, 61791468], [61805693, 61805729]]
NM_153335 [[61780191, 61781942], [61783994, 61784099], [61784606, 61784778], [61787850, 61787974], [61788087, 61788196], [61790765, 61790887], [61791365, 61791468], [61805717, 61805773], [61819100, 61819330]] [[61781642, 61781942], [61783994, 61784099], [61784606, 61784778], [61787850, 61787974], [61788087, 61788196], [61790765, 61790887], [61791365, 61791468], [61805717, 61805729]]
NM_001003786 [[61780191, 61781111], [61781364, 61781407], [61781700, 61781942], [61783994, 61784099], [61784606, 61784778], [61787850, 61787974], [61788087, 61788196], [61790765, 61790887], [61791365, 61791468], [61805717, 61805773], [61819100, 61819330]] [[61780958, 61781111], [61781364, 61781407], [61781700, 61781942], [61783994, 61784099], [61784606, 61784778], [61787850, 61787974], [61788087, 61788196], [61790765, 61790887], [61791365, 61791468], [61805717, 61805729]]
Promoter
Chrom Start End Description
chr17 61819121 61819219 CAGE_peak_1_at_STRADA_5end
chr17 61819229 61819243 CAGE_peak_2_at_STRADA_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I063740 63740213 63743704 2.1 [{'connected_gene': 'STRADA', 'score': 550.77}, {'connected_gene': 'FTSJ3', 'score': 100.04}, {'connected_gene': 'DDX5', 'score': 44.09}, {'connected_gene': 'SMARCD2', 'score': 35.58}, {'connected_gene': 'POLG2', 'score': 28.83}, {'connected_gene': 'CEP95', 'score': 25.02}, {'connected_gene': 'DDX42', 'score': 20.46}, {'connected_gene': 'ENSG00000281311', 'score': 18.87}, {'connected_gene': 'CSH2', 'score': 16.77}, {'connected_gene': 'EEF1DP7', 'score': 12.63}, {'connected_gene': 'MAP3K3', 'score': 12.6}, {'connected_gene': 'DCAF7', 'score': 10.53}, {'connected_gene': 'ENSG00000125695', 'score': 0.39}, {'connected_gene': 'PIR56154', 'score': 0.29}]
chr17 GH17I063720 63720760 63720819 0.5 [{'connected_gene': 'STRADA', 'score': 563.13}, {'connected_gene': 'ENSG00000125695', 'score': 13.08}, {'connected_gene': 'DCAF7', 'score': 9.95}, {'connected_gene': 'PIR56154', 'score': 0.39}]
chr17 GH17I063739 63739801 63740000 0.2 [{'connected_gene': 'STRADA', 'score': 0.77}, {'connected_gene': 'ENSG00000125695', 'score': 0.39}, {'connected_gene': 'PIR56154', 'score': 0.31}]
chr17 GH17I063664 63664756 63666583 0.94 [{'connected_gene': 'LIMD2', 'score': 12.48}, {'connected_gene': 'TACO1', 'score': 11.06}, {'connected_gene': 'STRADA', 'score': 10.77}, {'connected_gene': 'ENSG00000125695', 'score': 10.75}, {'connected_gene': 'SMARCD2', 'score': 10.55}, {'connected_gene': 'PSMC5', 'score': 4.09}, {'connected_gene': 'LOC101927898', 'score': 0.31}, {'connected_gene': 'EEF1DP7', 'score': 0.31}, {'connected_gene': 'MAP3K3', 'score': 0.26}]
chr17 GH17I063694 63694182 63704360 2.15 [{'connected_gene': 'LOC729683', 'score': 550.77}, {'connected_gene': 'LIMD2', 'score': 550.77}, {'connected_gene': 'PIR54058', 'score': 550.77}, {'connected_gene': 'GC17M063698', 'score': 550.77}, {'connected_gene': 'GC17M063699', 'score': 550.77}, {'connected_gene': 'FTSJ3', 'score': 75.45}, {'connected_gene': 'CSH2', 'score': 16.69}, {'connected_gene': 'STRADA', 'score': 12.35}, {'connected_gene': 'ENSG00000125695', 'score': 12.32}, {'connected_gene': 'PSMC5', 'score': 11.01}, {'connected_gene': 'TCAM1P', 'score': 6.14}, {'connected_gene': 'MAP3K3', 'score': 0.18}]
chr17 GH17I063716 63716276 63717149 0.2 [{'connected_gene': 'FTSJ3', 'score': 63.19}, {'connected_gene': 'STRADA', 'score': 12.08}, {'connected_gene': 'ENSG00000125695', 'score': 12.05}, {'connected_gene': 'PIR56154', 'score': 0.44}]
chr17 GH17I063674 63674232 63677730 1.75 [{'connected_gene': 'FTSJ3', 'score': 30.14}, {'connected_gene': 'SMARCD2', 'score': 17.69}, {'connected_gene': 'DDX5', 'score': 17.03}, {'connected_gene': 'POLG2', 'score': 14.4}, {'connected_gene': 'ENSG00000281311', 'score': 14.1}, {'connected_gene': 'DDX42', 'score': 13.39}, {'connected_gene': 'CEP95', 'score': 13.1}, {'connected_gene': 'LIMD2', 'score': 13.06}, {'connected_gene': 'ERN1', 'score': 11.37}, {'connected_gene': 'STRADA', 'score': 11.21}, {'connected_gene': 'ENSG00000125695', 'score': 11.19}, {'connected_gene': 'TACO1', 'score': 10.62}, {'connected_gene': 'LOC101927898', 'score': 0.37}, {'connected_gene': 'EEF1DP7', 'score': 0.28}, {'connected_gene': 'MAP3K3', 'score': 0.23}]
chr17 GH17I063672 63672266 63673175 0.65 [{'connected_gene': 'FTSJ3', 'score': 30.18}, {'connected_gene': 'SMARCD2', 'score': 17.68}, {'connected_gene': 'DDX5', 'score': 17.03}, {'connected_gene': 'POLG2', 'score': 14.4}, {'connected_gene': 'ENSG00000281311', 'score': 14.1}, {'connected_gene': 'DDX42', 'score': 13.38}, {'connected_gene': 'CEP95', 'score': 13.1}, {'connected_gene': 'LIMD2', 'score': 13.06}, {'connected_gene': 'ERN1', 'score': 11.37}, {'connected_gene': 'STRADA', 'score': 11.21}, {'connected_gene': 'ENSG00000125695', 'score': 11.19}, {'connected_gene': 'LOC101927898', 'score': 0.37}, {'connected_gene': 'EEF1DP7', 'score': 0.28}, {'connected_gene': 'MAP3K3', 'score': 0.23}]
chr17 GH17I063791 63791881 63792747 0.31 [{'connected_gene': 'FTSJ3', 'score': 27.3}, {'connected_gene': 'PSMC5', 'score': 12.38}, {'connected_gene': 'ENSG00000125695', 'score': 12.04}, {'connected_gene': 'STRADA', 'score': 12.01}, {'connected_gene': 'PIR56411', 'score': 0.44}, {'connected_gene': 'DDX42', 'score': 0.37}]
chr17 GH17I063834 63834155 63835610 0.87 [{'connected_gene': 'FTSJ3', 'score': 64.89}, {'connected_gene': 'CSH2', 'score': 17.66}, {'connected_gene': 'ENSG00000125695', 'score': 10.71}, {'connected_gene': 'STRADA', 'score': 10.69}, {'connected_gene': 'GC17P063832', 'score': 0.77}, {'connected_gene': 'GC17P063839', 'score': 0.44}, {'connected_gene': 'SMARCD2', 'score': 0.44}]
chr17 GH17I063704 63704861 63708618 0.58 [{'connected_gene': 'FTSJ3', 'score': 74.98}, {'connected_gene': 'CSH2', 'score': 18.1}, {'connected_gene': 'STRADA', 'score': 12.37}, {'connected_gene': 'ENSG00000125695', 'score': 12.34}, {'connected_gene': 'PSMC5', 'score': 11.01}, {'connected_gene': 'TACO1', 'score': 10.92}, {'connected_gene': 'LIMD2', 'score': 0.77}, {'connected_gene': 'PIR56154', 'score': 0.77}]
chr17 GH17I063354 63354149 63354252 0.39 [{'connected_gene': 'LOC105371857', 'score': 550.77}, {'connected_gene': 'ACE', 'score': 46.3}, {'connected_gene': 'STRADA', 'score': 3.01}, {'connected_gene': 'ENSG00000233635', 'score': 0.37}, {'connected_gene': 'TANC2', 'score': 0.05}]
chr17 GH17I063691 63691240 63692176 0.31 [{'connected_gene': 'LOC101927898', 'score': 550.77}, {'connected_gene': 'FTSJ3', 'score': 16.44}, {'connected_gene': 'PIR54058', 'score': 0.44}, {'connected_gene': 'GC17M063698', 'score': 0.44}, {'connected_gene': 'STRADA', 'score': 0.23}, {'connected_gene': 'MAP3K3', 'score': 0.2}]
chr17 GH17I063709 63709792 63710853 0.78 [{'connected_gene': 'PIR56154', 'score': 550.77}, {'connected_gene': 'CSH2', 'score': 17.22}, {'connected_gene': 'STRADA', 'score': 12.06}, {'connected_gene': 'ENSG00000125695', 'score': 12.03}, {'connected_gene': 'PSMC5', 'score': 10.58}, {'connected_gene': 'FTSJ3', 'score': 10.58}, {'connected_gene': 'LIMD2', 'score': 0.44}]
chr17 GH17I063751 63751588 63752585 0.96 [{'connected_gene': 'ENSG00000125695', 'score': 550.77}, {'connected_gene': 'FTSJ3', 'score': 75.69}, {'connected_gene': 'PSMC5', 'score': 11.57}, {'connected_gene': 'STRADA', 'score': 0.39}, {'connected_gene': 'CCDC47', 'score': 0.34}]
chr17 GH17I063783 63783974 63788309 0.89 [{'connected_gene': 'PIR56411', 'score': 550.77}, {'connected_gene': 'FTSJ3', 'score': 76.13}, {'connected_gene': 'PSMC5', 'score': 12.0}, {'connected_gene': 'ENSG00000125695', 'score': 11.89}, {'connected_gene': 'STRADA', 'score': 11.85}, {'connected_gene': 'MAP3K3', 'score': 4.19}, {'connected_gene': 'CCDC47', 'score': 0.44}, {'connected_gene': 'DDX42', 'score': 0.39}]

© 2018 bmi.sjtu.edu.cn. All rights reserved.
浙ICP备18030141号.